Variants on interaction residues (Swissprot Humsavar, NCBI Clinvar and Tommo 8.3kJPN)

KEGG pathway		Name
hsa00010		Glycolysis / Gluconeogenesis
dbSNP		Type	Disease name
	-	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	-	Likely pathogenic	Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]
	-	Likely pathogenic	Fructose-biphosphatase deficiency [MONDO:MONDO:0009251,MedGen:C0016756,OMIM:229700,Orphanet:348]
	-	Likely pathogenic	Glycogen storage disease, type VII [MONDO:MONDO:0009295,MedGen:C0017926,OMIM:232800,Orphanet:371]
	-	Likely pathogenic	Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
	-	Pathogenic	Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	-	LP/P	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
	-	Pathogenic/Likely pathogenic	not provided|Pyruvate kinase deficiency of red cells [MedGen:C3661900|MONDO:MONDO:0009950,MedGen:C0340968,OMIM:266200,Orphanet:766]
	-	LP/P	Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
	-	LP/P	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
	-	LP/P	Diabetes mellitus, permanent neonatal, 1 (PNDM1) [MIM:606176]
	-	Likely pathogenic	Maturity onset diabetes mellitus in young [Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	-	Pathogenic	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [MONDO:MONDO:0013047,MedGen:C2931743,OMIM:612933,Orphanet:284426]
	-	Likely pathogenic	Pyruvate dehydrogenase E1-beta deficiency [MONDO:MONDO:0013580,MedGen:C3279841,OMIM:614111,Orphanet:255138,Orphanet:765]
	-	LP/P	Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]
	-	LP/P	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
	-	Likely pathogenic	Isolated microphthalmia 8 [MONDO:MONDO:0014050,MedGen:C3554524,OMIM:615113,Orphanet:2542]
	.	-	-
	rs1018955701	-	-
	rs1041969	LB/B	-
	rs104894009	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs104894015	LP/P	Hyperinsulinemic hypoglycemia, familial, 3 (HHF3) [MIM:602485]
	rs1064794848	LP/P	Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547]
	rs1064794848	Pathogenic/Likely pathogenic	not provided|Neurodevelopmental disorder with visual defects and brain anomalies|Retinitis pigmentosa|Inborn genetic diseases|Hemolytic anemia due to hexokinase deficiency|Retinitis pigmentosa 79|Autism spectrum disorder [MedGen:C3661900|MONDO:MONDO:0032807,MedGen:C5231404,OMIM:618547|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009340,MedGen:C3150343,OMIM:235700,Orphanet:90031|MONDO:MONDO:0044320,MedGen:C4479526,OMIM:617460|MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586,Orphanet:106]
	rs1064795154	LP/P	Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547]
	rs1126673	-	-
	rs1131691416	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs1131691416	Pathogenic/Likely pathogenic	not provided|Maturity-onset diabetes of the young type 2|Type 2 diabetes mellitus [MedGen:C3661900|MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|Human Phenotype Ontology:HP:0005965,Human Phenotype Ontology:HP:0005978,Human Phenotype Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853]; Hyperinsulinism due to glucokinase deficiency [MONDO:MONDO:0011236,MedGen:C1865290,OMIM:602485,Orphanet:79299]; Permanent neonatal diabetes mellitus 1 [MONDO:MONDO:0100165,MedGen:C5393570,OMIM:606176]; Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]
	rs115638369	-	-
	rs1167329263	-	-
	rs1167329263	LP/P	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
	rs1168600424	-	-
	rs1170817007	Pathogenic	Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs118204083	LP/P	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
	rs118204089	Pathogenic	Pyruvate kinase deficiency of red cells [MONDO:MONDO:0009950,MedGen:C0340968,OMIM:266200,Orphanet:766]
	rs121909534	Pathogenic	HNSHA due to aldolase A deficiency [MONDO:MONDO:0012747,MedGen:C0272066,OMIM:611881,Orphanet:57]
	rs121912707	Pathogenic/Likely pathogenic	Pyridoxine-dependent epilepsy|not provided|Seizure|Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006|MedGen:C3661900|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:HP:0002279,Human Phenotype Ontology:HP:0002306,Human Phenotype Ontology:HP:0002348,Human Phenotype Ontology:HP:0002391,Human Phenotype Ontology:HP:0002417,Human Phenotype Ontology:HP:0002430,Human Phenotype Ontology:HP:0002431,Human Phenotype Ontology:HP:0002432,Human Phenotype Ontology:HP:0002434,Human Phenotype Ontology:HP:0002437,Human Phenotype Ontology:HP:0002466,Human Phenotype Ontology:HP:0002479,Human Phenotype Ontology:HP:0002794,Human Phenotype Ontology:HP:0006997,Human Phenotype Ontology:HP:0010520,MedGen:C0036572|MONDO:MONDO:0020741,MedGen:CN293409]
	rs121912711	Pathogenic	Pyridoxine-dependent epilepsy|not provided [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006|MedGen:C3661900]
	rs121918189	-	-
	rs121918189	Pathogenic	Fructose-biphosphatase deficiency [MONDO:MONDO:0009251,MedGen:C0016756,OMIM:229700,Orphanet:348]
	rs121918190	Pathogenic	Fructose-biphosphatase deficiency [MONDO:MONDO:0009251,MedGen:C0016756,OMIM:229700,Orphanet:348]
	rs121964925	LP/P	Erythrocytosis, familial, 8 (ECYT8) [MIM:222800]
	rs121964988	LP/P	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
	rs121964991	LP/P	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
	rs121964993	LP/P	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
	rs1227427396	LP/P	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
	rs1229984	LB/B	-
	rs1239029841	LP/P	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
	rs1256830271	-	-
	rs1272572107	Pathogenic/Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
	rs1272792336	-	-
	rs1280636156	-	-
	rs1286804191	LP/P	Diabetes mellitus, permanent neonatal, 1 (PNDM1) [MIM:606176]
	rs1301021797	LP/P	Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]
	rs1311982393	Pathogenic	Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs1320810473	LP/P	Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]
	rs1331843613	-	-
	rs1332966015	Pathogenic	not provided|Monogenic diabetes|Maturity onset diabetes mellitus in young [MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs1348837644	-	-
	rs1360415315	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs1360415315	Pathogenic	not provided|Maturity-onset diabetes of the young type 2|Hyperinsulinism due to glucokinase deficiency [MedGen:C3661900|MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MONDO:MONDO:0011236,MedGen:C1865290,OMIM:602485,Orphanet:79299]; Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]; Permanent neonatal diabetes mellitus [MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885]; Type 2 diabetes mellitus|Maturity onset diabetes mellitus in young|Monogenic diabetes [Human Phenotype Ontology:HP:0005965,Human Phenotype Ontology:HP:0005978,Human Phenotype Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
	rs1375656631	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs137852530	LB/B	-
	rs137852533	LP/P	Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
	rs137852539	Pathogenic	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency [MONDO:MONDO:0010392,MedGen:C1970848,OMIM:300653,Orphanet:713]
	rs137853258	LP/P	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
	rs137853582	-	-
	rs138887023	-	-
	rs138893744	Pathogenic	Glycogen storage disease, type VII [MONDO:MONDO:0009295,MedGen:C0017926,OMIM:232800,Orphanet:371]
	rs139273956	-	-
	rs140960775	-	-
	rs141315355	-	-
	rs141623265	-	-
	rs143485300	-	-
	rs1441649062	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs144723656	Pathogenic	Maturity-onset diabetes of the young type 2|not provided [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MedGen:CN517202]
	rs144723656	Pathogenic/Likely pathogenic	not provided|Maturity onset diabetes mellitus in young [MedGen:C3661900|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs144739734	-	-
	rs146153216	-	-
	rs146556418	-	-
	rs1470521850	Pathogenic	Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]
	rs147065275	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs1471862905	-	-
	rs1476637197	Pathogenic	Maturity-onset diabetes of the young type 2|Monogenic diabetes [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
	rs148311934	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs148311934	Pathogenic	Maturity-onset diabetes of the young type 2|not provided|Maturity onset diabetes mellitus in young|Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MedGen:C3661900|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]; Type 2 diabetes mellitus [Human Phenotype Ontology:HP:0005965,Human Phenotype Ontology:HP:0005978,Human Phenotype Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853]; Hyperinsulinism due to glucokinase deficiency [MONDO:MONDO:0011236,MedGen:C1865290,OMIM:602485,Orphanet:79299]; Permanent neonatal diabetes mellitus 1|Monogenic diabetes [MONDO:MONDO:0100165,MedGen:C5393570,OMIM:606176|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
	rs1490487177	-	-
	rs149408684	-	-
	rs150526754	-	-
	rs150939574	-	-
	rs1554334872	Likely pathogenic	Maturity-onset diabetes of the young type 2|Maturity onset diabetes mellitus in young [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs1554334905	Likely pathogenic	not specified|not provided|Monogenic diabetes|Maturity onset diabetes mellitus in young [MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs1554335132	Pathogenic	not specified|Maturity onset diabetes mellitus in young|Monogenic diabetes [MedGen:CN169374|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
	rs1554335135	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs1554335135	Pathogenic/Likely pathogenic	not provided|Maturity onset diabetes mellitus in young [MedGen:CN517202|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs1554335761	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs1555933963	Pathogenic/Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency|not provided|Pyruvate dehydrogenase complex deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243|MedGen:C3661900|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170,Orphanet:765,Orphanet:79243]
	rs1562711915	Pathogenic	not provided|Monogenic diabetes|Maturity onset diabetes mellitus in young [MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs1562715426	Pathogenic	not provided|Maturity onset diabetes mellitus in young [MedGen:C3661900|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs1562717053	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs1562717053	Pathogenic	not provided|Maturity-onset diabetes of the young type 2 [MedGen:C3661900|MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]; Permanent neonatal diabetes mellitus 1 [MONDO:MONDO:0100165,MedGen:C5393570,OMIM:606176]; Type 2 diabetes mellitus [Human Phenotype Ontology:HP:0005965,Human Phenotype Ontology:HP:0005978,Human Phenotype Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853]; Hyperinsulinism due to glucokinase deficiency|Monogenic diabetes|Maturity onset diabetes mellitus in young [MONDO:MONDO:0011236,MedGen:C1865290,OMIM:602485,Orphanet:79299|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs1564557037	LP/P	Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547]
	rs1564557037	Likely pathogenic	Neurodevelopmental disorder with visual defects and brain anomalies|Neurodevelopmental abnormality|Charcot-Marie-Tooth disease type 4G [MONDO:MONDO:0032807,MedGen:C5231404,OMIM:618547|Human Phenotype Ontology:HP:0012759,MedGen:C4022737|MONDO:MONDO:0011534,MedGen:C1854449,OMIM:605285,Orphanet:99953]
	rs1583591303	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs1583599303	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs1583599303	Pathogenic/Likely pathogenic/Likely risk allele	not provided|Monogenic diabetes|Maturity onset diabetes mellitus in young [MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs1750309299	Pathogenic	not provided|Pyridoxine-dependent epilepsy [MedGen:C3661900|MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs1750388096	Likely pathogenic	Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs17853396	LB/B	-
	rs1831150965	Likely pathogenic	Hereditary fructosuria [Human Phenotype Ontology:HP:0005973,MONDO:MONDO:0009249,MedGen:C0016751,OMIM:229600,Orphanet:469]
	rs184074326	-	-
	rs184618766	-	-
	rs193922272	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs193922281	Pathogenic/Likely pathogenic	Maturity-onset diabetes of the young type 2|not provided|Maturity onset diabetes mellitus in young [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MedGen:C3661900|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs193922282	Likely pathogenic	Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]
	rs193922282	LP/P	Diabetes mellitus, permanent neonatal, 1 (PNDM1) [MIM:606176]
	rs193922290	Likely pathogenic/Likely risk allele	Maturity-onset diabetes of the young type 2|Maturity onset diabetes mellitus in young [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs193922297	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs193922311	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs193922319	Likely pathogenic	Maturity-onset diabetes of the young type 2|Maturity onset diabetes mellitus in young|Monogenic diabetes [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
	rs193922327	Pathogenic/Likely pathogenic	Maturity-onset diabetes of the young type 2|not provided [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MedGen:C3661900]
	rs199624420	-	-
	rs200000745	-	-
	rs200196486	-	-
	rs200244541	-	-
	rs200544560	-	-
	rs200556774	-	-
	rs200969445	Pathogenic	Oligosynaptic infertility|Azoospermia|Spermatogenic failure 70 [MONDO:MONDO:0009776,MedGen:C0403810,OMIM:258150,Orphanet:217034|Human Phenotype Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509|MONDO:MONDO:0030733,MedGen:C5676962,OMIM:619828]
	rs201321507	-	-
	rs201745983	-	-
	rs201934016	-	-
	rs201948406	Pathogenic/Likely pathogenic	Pyridoxine-dependent epilepsy|not provided|Inborn genetic diseases [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006|MedGen:C3661900|MeSH:D030342,MedGen:C0950123]
	rs202226446	-	-
	rs2032247686	Likely pathogenic	Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
	rs2032282970	Likely pathogenic	Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
	rs2063174067	LP/P	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
	rs2063189233	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
	rs2063213272	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
	rs2066702	LB/B	-
	rs2096273902	Likely pathogenic	not provided|Maturity onset diabetes mellitus in young|Monogenic diabetes [MedGen:C3661900|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
	rs2096280050	US	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs2096281827	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs2118343224	Pathogenic	Hereditary fructosuria [Human Phenotype Ontology:HP:0005973,MONDO:MONDO:0009249,MedGen:C0016751,OMIM:229600,Orphanet:469]
	rs2128820597	Pathogenic/Likely pathogenic	Maturity-onset diabetes of the young type 2|Monogenic diabetes|not provided [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:C3661900]
	rs2128821509	Likely pathogenic	Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]
	rs2135856711	Pathogenic	Glycogen storage disease, type VII [MONDO:MONDO:0009295,MedGen:C0017926,OMIM:232800,Orphanet:371]
	rs2147176072	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
	rs2147178249	Pathogenic	not provided|Pyruvate dehydrogenase E1-alpha deficiency [MedGen:C3661900|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
	rs2147180839	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
	rs2147180851	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
	rs2147184502	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
	rs2151019295	Pathogenic/Likely pathogenic	HNSHA due to aldolase A deficiency [MONDO:MONDO:0012747,MedGen:C0272066,OMIM:611881,Orphanet:57]
	rs2458502	-	-
	rs28359542	LB/B	-
	rs28383586	LB/B	-
	rs284797	-	-
	rs28730628	LB/B	-
	rs35229514	-	-
	rs35385902	LB/B	-
	rs367861880	-	-
	rs371767574	-	-
	rs371807385	-	-
	rs372660425	Pathogenic	Pyridoxine-dependent epilepsy|not provided [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006|MedGen:C3661900]
	rs374118874	-	-
	rs376093116	-	-
	rs376297762	-	-
	rs376690171	-	-
	rs377699817	-	-
	rs398122379	LP/P	Hexokinase deficiency (HK deficiency) [MIM:235700]
	rs539728659	-	-
	rs541509845	-	-
	rs545372800	-	-
	rs546847108	-	-
	rs547918064	-	-
	rs547918064	Likely pathogenic	not provided|Isolated microphthalmia 8 [MedGen:C3661900|MONDO:MONDO:0014050,MedGen:C3554524,OMIM:615113,Orphanet:2542]
	rs555935217	-	-
	rs56251804	-	-
	rs566453434	Pathogenic/Likely pathogenic	not provided|Fructose-biphosphatase deficiency [MedGen:C3661900|MONDO:MONDO:0009251,MedGen:C0016756,OMIM:229700,Orphanet:348]
	rs573040804	-	-
	rs587780346	Pathogenic/Likely pathogenic	Gestational diabetes|not provided|Monogenic diabetes|Maturity onset diabetes mellitus in young [Human Phenotype Ontology:HP:0009800,MONDO:MONDO:0005406,MedGen:C0085207|MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs671	-	-
	rs671	LP/P	AMED syndrome, digenic (AMEDS) [MIM:619151]
	rs74451421	-	-
	rs746913146	Pathogenic	not provided|Maturity onset diabetes mellitus in young|Monogenic diabetes [MedGen:C3661900|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
	rs747097960	LP/P	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
	rs747209153	-	-
	rs747837917	-	-
	rs747971446	-	-
	rs748408705	-	-
	rs748682601	Pathogenic	Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
	rs748947397	-	-
	rs750026492	Pathogenic/Likely pathogenic	Hereditary fructosuria [Human Phenotype Ontology:HP:0005973,MONDO:MONDO:0009249,MedGen:C0016751,OMIM:229600,Orphanet:469]
	rs750389182	-	-
	rs750660594	-	-
	rs751972865	LP/P	Erythrocytosis, familial, 8 (ECYT8) [MIM:222800]
	rs752807581	-	-
	rs753407393	-	-
	rs754185312	-	-
	rs754994587	-	-
	rs755461904	-	-
	rs755761896	-	-
	rs756704521	-	-
	rs757087726	Pathogenic	Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
	rs757746489	-	-
	rs757985056	-	-
	rs758609113	Pathogenic/Likely pathogenic	not provided|Fructose-biphosphatase deficiency [MedGen:CN517202|MONDO:MONDO:0009251,MedGen:C0016756,OMIM:229700,Orphanet:348]
	rs758737171	LP/P	Hyperinsulinemic hypoglycemia, familial, 3 (HHF3) [MIM:602485]
	rs75967634	-	-
	rs759725155	-	-
	rs759933654	-	-
	rs760185950	-	-
	rs760379773	-	-
	rs760971491	-	-
	rs761042153	-	-
	rs761295869	Likely pathogenic	Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs762200045	-	-
	rs763392896	-	-
	rs767632371	-	-
	rs768176085	-	-
	rs768361068	-	-
	rs768697532	-	-
	rs769268803	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs769268803	Pathogenic	not provided|Permanent neonatal diabetes mellitus [MedGen:C3661900|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885]; Hyperinsulinism due to glucokinase deficiency [MONDO:MONDO:0011236,MedGen:C1865290,OMIM:602485,Orphanet:79299]; Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]; Type 2 diabetes mellitus|Maturity-onset diabetes of the young type 2 [Human Phenotype Ontology:HP:0005965,Human Phenotype Ontology:HP:0005978,Human Phenotype Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]
	rs769512330	-	-
	rs769724893	LB/B	-
	rs769763635	-	-
	rs769879612	-	-
	rs770231054	Likely pathogenic	Maturity onset diabetes mellitus in young [Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs770331582	-	-
	rs770807520	-	-
	rs771107373	-	-
	rs772238965	-	-
	rs772754004	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs773503933	-	-
	rs775111586	-	-
	rs775156542	-	-
	rs776400068	-	-
	rs776421832	-	-
	rs777019739	-	-
	rs777954556	LP/P	Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128]
	rs779006912	-	-
	rs779314973	-	-
	rs779828856	-	-
	rs780442649	-	-
	rs780715532	-	-
	rs781110394	-	-
	rs781222092	Pathogenic	Deficiency of bisphosphoglycerate mutase [MONDO:MONDO:0009113,MedGen:C1291620,OMIM:222800,Orphanet:714]
	rs781507152	-	-
	rs794727839	Likely pathogenic	not provided|Maturity-onset diabetes of the young type 2|Maturity onset diabetes mellitus in young|Monogenic diabetes|not specified [MedGen:C3661900|MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:CN169374]
	rs796052271	Pathogenic	not provided|Pyridoxine-dependent epilepsy [MedGen:C3661900|MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs80356655	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs80356655	Pathogenic	Maturity-onset diabetes of the young type 2|not provided|Permanent neonatal diabetes mellitus 1|Maturity onset diabetes mellitus in young|Type 2 diabetes mellitus|Hyperinsulinism due to glucokinase deficiency|Monogenic diabetes [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MedGen:C3661900|MONDO:MONDO:0100165,MedGen:C5393570,OMIM:606176|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|Human Phenotype Ontology:HP:0005965,Human Phenotype Ontology:HP:0005978,Human Phenotype Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0011236,MedGen:C1865290,OMIM:602485,Orphanet:79299|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
	rs863224149	Pathogenic	not provided|Pyruvate dehydrogenase E1-alpha deficiency [MedGen:C3661900|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
	rs863224150	Pathogenic	not provided|Pyruvate dehydrogenase E1-alpha deficiency|Pyruvate dehydrogenase complex deficiency [MedGen:C3661900|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170,Orphanet:765,Orphanet:79243]
	rs864622558	Pathogenic	Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs866904446	Pathogenic/Likely pathogenic	Glycogen storage disease, type VII [MONDO:MONDO:0009295,MedGen:C0017926,OMIM:232800,Orphanet:371]
	rs981505482	LP/P	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
hsa00020		Citrate cycle (TCA cycle)
dbSNP		Type	Disease name
	-	Pathogenic	Paragangliomas 1 [MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000,Orphanet:29072]
	-	Pathogenic	Mitochondrial DNA depletion syndrome 9 [MONDO:MONDO:0009504,MedGen:C3151476,OMIM:245400,Orphanet:17]
	-	Likely pathogenic	Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
	-	LP/P	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
	-	Likely pathogenic	Pyruvate dehydrogenase E1-beta deficiency [MONDO:MONDO:0013580,MedGen:C3279841,OMIM:614111,Orphanet:255138,Orphanet:765]
	.	-	-
	rs1040177874	-	-
	rs104894302	Pathogenic	Paragangliomas 1|Hereditary cancer-predisposing syndrome|Paragangliomas with sensorineural hearing loss [MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C1868633]; Cowden syndrome 3 [MONDO:MONDO:0014045,MedGen:CN166604,Orphanet:201]; Pheochromocytoma [Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072]; Carney-Stratakis syndrome [MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864,Orphanet:97286]
	rs1057519736	LB/B	-
	rs1057519736	Pathogenic; risk factor	Acute myeloid leukemia|Acute myocardial infarction [Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MONDO:MONDO:0004781,MedGen:C0155626]
	rs1057519906	LB/B	-
	rs1057519906	LP/P	Glioma (GLM) [MIM:137800]
	rs1057519906	Likely pathogenic; risk factor	Neoplasm of the large intestine|Neoplasm of brain|Brainstem glioma|Acute myeloid leukemia|Hepatocellular carcinoma|Acute myocardial infarction [Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0004781,MedGen:C0155626]
	rs1060503769	Pathogenic	Carney-Stratakis syndrome [MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864,Orphanet:97286]; Pheochromocytoma [Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072]; Cowden syndrome 3 [MONDO:MONDO:0014045,MedGen:CN166604,Orphanet:201]; Paragangliomas with sensorineural hearing loss|Hereditary cancer-predisposing syndrome [MedGen:C1868633|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
	rs1131691065	Pathogenic	Hereditary cancer-predisposing syndrome|Pheochromocytoma [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072]; Paragangliomas with sensorineural hearing loss [MedGen:C1868633]; Cowden syndrome 3 [MONDO:MONDO:0014045,MedGen:CN166604,Orphanet:201]; Carney-Stratakis syndrome|Mitochondrial complex 2 deficiency, nuclear type 3 [MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864,Orphanet:97286|MONDO:MONDO:0030937,MedGen:C5436934,OMIM:619167]
	rs1200905118	-	-
	rs1213395414	-	-
	rs121913499	US	Colorectal cancer
	rs121913499	Pathogenic/Likely pathogenic	Lung adenocarcinoma|Breast neoplasm|Neoplasm of brain|Hepatocellular carcinoma|Astrocytoma|Medulloblastoma|Malignant melanoma of skin|Transitional cell carcinoma of the bladder|Neoplasm of the large intestine|Multiple myeloma|Prostate adenocarcinoma|Brainstem glioma|Glioblastoma|Myelodysplastic syndrome|Acute myeloid leukemia|Adenoid cystic carcinoma|not provided|Enchondromatosis|Enchondromatosis [Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0009592,MONDO:MONDO:0019781,MeSH:D001254,MedGen:C0004114|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|MedGen:C3661900|Human Phenotype Ontology:HP:0005701,MONDO:MONDO:0008145,MedGen:C0014084,OMIM:166000,Orphanet:296|Human Phenotype Ontology:HP:0005701,MONDO:MONDO:0008145,MedGen:C0014084,OMIM:166000,Orphanet:296]; Maffucci syndrome|Glioma susceptibility 1|Maffucci syndrome [MONDO:MONDO:0013808,MedGen:C0024454,OMIM:614569,Orphanet:163634|MONDO:MONDO:0024498,MedGen:C2750850,OMIM:137800|MONDO:MONDO:0013808,MedGen:C0024454,OMIM:614569,Orphanet:163634]
	rs121913500	US	A glioma sample
	rs121913500	Pathogenic/Likely pathogenic	Glioblastoma multiforme, somatic|Transitional cell carcinoma of the bladder|Myelodysplastic syndrome|Medulloblastoma|Malignant melanoma of skin|Hepatocellular carcinoma|Lung adenocarcinoma|Brainstem glioma|Breast neoplasm|Prostate adenocarcinoma|Multiple myeloma|Neoplasm of brain|Acute myeloid leukemia|Oligodendroglioma|Adenoid cystic carcinoma|Neoplasm of the large intestine|Astrocytoma|Glioblastoma|Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria|not provided|Glioma susceptibility 1|Enchondromatosis|Metaphyseal chondromatosis [MedGen:C4016231|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0033681,MONDO:MONDO:0016695,MeSH:D009837,MedGen:C0028945,Orphanet:251627|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0009592,MONDO:MONDO:0019781,MeSH:D001254,MedGen:C0004114|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0013941,MedGen:C3553958,OMIM:614875,Orphanet:99646|MedGen:C3661900|MONDO:MONDO:0024498,MedGen:C2750850,OMIM:137800|Human Phenotype Ontology:HP:0005701,MONDO:MONDO:0008145,MedGen:C0014084,OMIM:166000,Orphanet:296|]
	rs121913502	LP/P	D-2-hydroxyglutaric aciduria 2 (D2HGA2) [MIM:613657]
	rs121913502	Pathogenic/Likely pathogenic	D-2-hydroxyglutaric aciduria 2|Squamous cell carcinoma of the head and neck|not provided|Acute myeloid leukemia|Neoplasm of the large intestine|Myelodysplastic syndrome|Multiple myeloma|Inborn genetic diseases [MONDO:MONDO:0013345,MedGen:C3150909,OMIM:613657,Orphanet:79315|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MedGen:C3661900|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MeSH:D030342,MedGen:C0950123]
	rs121913503	Pathogenic/Likely pathogenic; risk factor	Hepatocellular carcinoma|Acute myeloid leukemia|Neoplasm of the large intestine|Neoplasm of brain|Brainstem glioma|Acute myocardial infarction [Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|MONDO:MONDO:0004781,MedGen:C0155626]
	rs121913503	LP/P	Glioma (GLM) [MIM:137800]
	rs121913503	Pathogenic/Likely pathogenic; risk factor	Acute myeloid leukemia|Hepatocellular carcinoma|Neoplasm of brain|Myelodysplastic syndrome|Neoplasm of the large intestine|Brainstem glioma|Acute myocardial infarction [Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|MONDO:MONDO:0004781,MedGen:C0155626]
	rs121964988	LP/P	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
	rs121964991	LP/P	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
	rs121964993	LP/P	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
	rs1233115152	-	-
	rs1250941205	-	-
	rs1252881714	-	-
	rs1256830271	-	-
	rs1258494752	LP/P	Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
	rs1272572107	Pathogenic/Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
	rs1304729997	-	-
	rs137853258	LP/P	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
	rs139584437	-	-
	rs140626260	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 9 [MONDO:MONDO:0009504,MedGen:C3151476,OMIM:245400,Orphanet:17]
	rs141728876	-	-
	rs1423978863	Pathogenic	Hereditary cancer-predisposing syndrome|Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Paragangliomas 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
	rs148890709	-	-
	rs148943214	-	-
	rs150561917	-	-
	rs1555015018	Likely pathogenic	Pyruvate carboxylase deficiency [MONDO:MONDO:0009949,MedGen:C0034341,OMIM:266150,Orphanet:3008]
	rs1555629667	-	-
	rs1555632876	-	-
	rs1555933963	Pathogenic/Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency|not provided|Pyruvate dehydrogenase complex deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243|MedGen:C3661900|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170,Orphanet:765,Orphanet:79243]
	rs1560992565	Pathogenic	Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Paragangliomas 5|Hereditary cancer-predisposing syndrome|Paragangliomas 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
	rs1573369925	Pathogenic	Mitochondrial DNA depletion syndrome 9 [MONDO:MONDO:0009504,MedGen:C3151476,OMIM:245400,Orphanet:17]
	rs200969445	Pathogenic	Oligosynaptic infertility|Azoospermia|Spermatogenic failure 70 [MONDO:MONDO:0009776,MedGen:C0403810,OMIM:258150,Orphanet:217034|Human Phenotype Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509|MONDO:MONDO:0030733,MedGen:C5676962,OMIM:619828]
	rs2032247686	Likely pathogenic	Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
	rs2032282970	Likely pathogenic	Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
	rs2063174067	LP/P	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
	rs2063189233	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
	rs2063213272	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
	rs2146127288	Likely pathogenic	Infantile cerebellar-retinal degeneration [MONDO:MONDO:0013802,MedGen:C3281192,OMIM:614559,Orphanet:313850]
	rs2147176072	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
	rs2147178249	Pathogenic	not provided|Pyruvate dehydrogenase E1-alpha deficiency [MedGen:C3661900|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
	rs2147180839	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
	rs2147180851	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
	rs2147184502	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
	rs267606870	LP/P	D-2-hydroxyglutaric aciduria 2 (D2HGA2) [MIM:613657]
	rs267607097	LP/P	Mitochondrial DNA depletion syndrome 9 (MTDPS9) [MIM:245400]
	rs267607098	Pathogenic	Mitochondrial DNA depletion syndrome 9 [MONDO:MONDO:0009504,MedGen:C3151476,OMIM:245400,Orphanet:17]
	rs267607099	LP/P	Mitochondrial DNA depletion syndrome 9 (MTDPS9) [MIM:245400]
	rs28359542	LB/B	-
	rs28383586	LB/B	-
	rs28940589	LP/P	Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
	rs28940590	LP/P	Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
	rs35494829	-	-
	rs369153479	Pathogenic	Mitochondrial DNA depletion syndrome 9 [MONDO:MONDO:0009504,MedGen:C3151476,OMIM:245400,Orphanet:17]
	rs370866394	-	-
	rs371807385	-	-
	rs376297762	-	-
	rs377518755	-	-
	rs532952188	-	-
	rs537907558	-	-
	rs546847108	-	-
	rs564792232	-	-
	rs575833641	-	-
	rs745389409	-	-
	rs747837917	-	-
	rs747951792	-	-
	rs748682601	Pathogenic	Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
	rs753407393	-	-
	rs753617532	-	-
	rs755024692	Pathogenic	not provided|Optic atrophy 9 [MedGen:C3661900|MONDO:MONDO:0014571,MedGen:C4225384,OMIM:616289]
	rs755461904	-	-
	rs756712426	US	Retinitis pigmentosa 90 (RP90) [MIM:619007]
	rs757087726	Pathogenic	Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
	rs759846791	-	-
	rs764832926	-	-
	rs767061831	Likely pathogenic	D-2-hydroxyglutaric aciduria 2 [MONDO:MONDO:0013345,MedGen:C3150909,OMIM:613657,Orphanet:79315]
	rs768176085	-	-
	rs770028533	-	-
	rs770807520	-	-
	rs776400068	-	-
	rs776448754	-	-
	rs781739244	-	-
	rs781834702	-	-
	rs781837455	-	-
	rs782010539	-	-
	rs782308462	LP/P	Developmental and epileptic encephalopathy 51 (DEE51) [MIM:617339]
	rs782487022	-	-
	rs786202403	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome|Pheochromocytoma [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072]; Cowden syndrome 3 [MONDO:MONDO:0014045,MedGen:CN166604,Orphanet:201]; Carney-Stratakis syndrome [MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864,Orphanet:97286]; Paragangliomas with sensorineural hearing loss [MedGen:C1868633]
	rs786205145	Likely pathogenic	Carney triad [MONDO:MONDO:0011424,MedGen:C1858592,OMIM:604287,Orphanet:139411]
	rs80338847	Pathogenic	Paragangliomas 1|Hereditary pheochromocytoma-paraganglioma|not provided [MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000,Orphanet:29072|MONDO:MONDO:0017366,MedGen:C1708353,Orphanet:29072|MedGen:CN517202]
	rs80338847	Likely pathogenic	Paragangliomas with sensorineural hearing loss [MedGen:C1868633]; Carney-Stratakis syndrome [MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864,Orphanet:97286]; Cowden syndrome 3 [MONDO:MONDO:0014045,MedGen:CN166604,Orphanet:201]; Pheochromocytoma [Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072]
	rs863224149	Pathogenic	not provided|Pyruvate dehydrogenase E1-alpha deficiency [MedGen:C3661900|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
	rs863224150	Pathogenic	not provided|Pyruvate dehydrogenase E1-alpha deficiency|Pyruvate dehydrogenase complex deficiency [MedGen:C3661900|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170,Orphanet:765,Orphanet:79243]
	rs905092947	-	-
hsa00030		Pentose phosphate pathway
dbSNP		Type	Disease name
	-	Likely pathogenic	Fructose-biphosphatase deficiency [MONDO:MONDO:0009251,MedGen:C0016756,OMIM:229700,Orphanet:348]
	-	Likely pathogenic	Glycogen storage disease, type VII [MONDO:MONDO:0009295,MedGen:C0017926,OMIM:232800,Orphanet:371]
	-	LP/P	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
	-	Likely pathogenic	Anemia, nonspherocytic hemolytic, due to G6PD deficiency [MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026]
	-	Likely pathogenic	Primary hyperoxaluria type 3 [MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600]
	.	-	-
	rs1050829	LB/B	-
	rs121909534	Pathogenic	HNSHA due to aldolase A deficiency [MONDO:MONDO:0012747,MedGen:C0272066,OMIM:611881,Orphanet:57]
	rs121918189	-	-
	rs121918189	Pathogenic	Fructose-biphosphatase deficiency [MONDO:MONDO:0009251,MedGen:C0016756,OMIM:229700,Orphanet:348]
	rs121918190	Pathogenic	Fructose-biphosphatase deficiency [MONDO:MONDO:0009251,MedGen:C0016756,OMIM:229700,Orphanet:348]
	rs1280636156	-	-
	rs1362222659	-	-
	rs1378312777	-	-
	rs137852316	LP/P	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
	rs137852325	LP/P	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
	rs137852329	LP/P	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
	rs137852341	LB/B	-
	rs137852349	LP/P	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
	rs137852543	LP/P	Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]
	rs137852545	LP/P	Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]
	rs137853582	-	-
	rs138207257	LP/P	Hyperoxaluria primary 3 (HP3) [MIM:613616]
	rs138893744	Pathogenic	Glycogen storage disease, type VII [MONDO:MONDO:0009295,MedGen:C0017926,OMIM:232800,Orphanet:371]
	rs143485300	-	-
	rs1556381145	-	-
	rs1557229416	-	-
	rs1557229683	LP/P	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
	rs1557229736	Pathogenic/Likely pathogenic	Inborn genetic diseases|Anemia, nonspherocytic hemolytic, due to G6PD deficiency [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026]
	rs1557230580	-	-
	rs1831150965	Likely pathogenic	Hereditary fructosuria [Human Phenotype Ontology:HP:0005973,MONDO:MONDO:0009249,MedGen:C0016751,OMIM:229600,Orphanet:469]
	rs184658792	-	-
	rs189919790	-	-
	rs200529020	Likely pathogenic	Primary hyperoxaluria type 3 [MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600]
	rs200544560	-	-
	rs201215269	-	-
	rs202231318	-	-
	rs2118343224	Pathogenic	Hereditary fructosuria [Human Phenotype Ontology:HP:0005973,MONDO:MONDO:0009249,MedGen:C0016751,OMIM:229600,Orphanet:469]
	rs2135856711	Pathogenic	Glycogen storage disease, type VII [MONDO:MONDO:0009295,MedGen:C0017926,OMIM:232800,Orphanet:371]
	rs2147682409	Likely pathogenic	Charcot-Marie-Tooth Neuropathy X|Charcot-Marie-Tooth disease X-linked recessive 5|not provided [MedGen:CN118851|MONDO:MONDO:0010699,MedGen:C1839566,OMIM:311070,Orphanet:99014|MedGen:C3661900]
	rs2148328852	Pathogenic/Likely pathogenic	not provided|Anemia, nonspherocytic hemolytic, due to G6PD deficiency [MedGen:C3661900|MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026]
	rs2148328873	Likely pathogenic	Anemia, nonspherocytic hemolytic, due to G6PD deficiency [MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026]
	rs2151019295	Pathogenic/Likely pathogenic	HNSHA due to aldolase A deficiency [MONDO:MONDO:0012747,MedGen:C0272066,OMIM:611881,Orphanet:57]
	rs374714195	-	-
	rs376093116	-	-
	rs376690171	-	-
	rs387906468	Pathogenic/Likely pathogenic	G6PD PUERTO LIMON|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|not provided [|MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026|MedGen:C3661900]
	rs541509845	-	-
	rs555935217	-	-
	rs566453434	Pathogenic/Likely pathogenic	not provided|Fructose-biphosphatase deficiency [MedGen:C3661900|MONDO:MONDO:0009251,MedGen:C0016756,OMIM:229700,Orphanet:348]
	rs746419489	Pathogenic	Primary hyperoxaluria type 3|not provided [MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600|MedGen:C3661900]
	rs748408705	-	-
	rs749994897	-	-
	rs750026492	Pathogenic/Likely pathogenic	Hereditary fructosuria [Human Phenotype Ontology:HP:0005973,MONDO:MONDO:0009249,MedGen:C0016751,OMIM:229600,Orphanet:469]
	rs752807581	-	-
	rs754049561	-	-
	rs754160997	-	-
	rs756489804	Pathogenic	Primary hyperoxaluria type 3 [MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600]
	rs756704521	-	-
	rs757746489	-	-
	rs758609113	Pathogenic/Likely pathogenic	not provided|Fructose-biphosphatase deficiency [MedGen:CN517202|MONDO:MONDO:0009251,MedGen:C0016756,OMIM:229700,Orphanet:348]
	rs759725155	-	-
	rs760379773	-	-
	rs762200045	-	-
	rs764224799	-	-
	rs76645461	LP/P	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
	rs76645461	Pathogenic/Likely pathogenic	G6PD AURES|not provided|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD deficiency|Anemia, nonspherocytic hemolytic, due to G6PD deficiency [|MedGen:C3661900|MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026|MONDO:MONDO:0005775,MedGen:C2939465|MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026]; Malaria, susceptibility to|Malaria, susceptibility to [MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673]
	rs767405535	Pathogenic	Primary hyperoxaluria type 3|not provided [MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600|MedGen:C3661900]
	rs769512330	-	-
	rs772424772	-	-
	rs780442649	-	-
	rs780715532	-	-
	rs781110394	-	-
	rs78160297	-	-
	rs782090947	Pathogenic/Likely pathogenic	not provided|Anemia, nonspherocytic hemolytic, due to G6PD deficiency [MedGen:C3661900|MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026]
	rs782314561	-	-
	rs782412869	-	-
	rs782436684	-	-
	rs782453942	-	-
	rs782483326	-	-
	rs782549710	-	-
	rs78365220	LP/P	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
	rs78478128	LP/P	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
	rs78478128	Pathogenic	G6PD ORISSA|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|not provided|G6PD deficiency|Malaria, susceptibility to [|MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026|MedGen:C3661900|MONDO:MONDO:0005775,MedGen:C2939465|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673]
	rs796052088	Pathogenic/Likely pathogenic	Primary hyperoxaluria type 3|not provided [MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600|MedGen:C3661900]
	rs80338675	LP/P	ARTS syndrome (ARTS) [MIM:301835]
	rs80338731	LP/P	Charcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5) [MIM:311070]
	rs866904446	Pathogenic/Likely pathogenic	Glycogen storage disease, type VII [MONDO:MONDO:0009295,MedGen:C0017926,OMIM:232800,Orphanet:371]
	rs869025593	Pathogenic	Hearing loss, X-linked 1|Arts syndrome [MONDO:MONDO:0010577,MedGen:C1844677,OMIM:304500,Orphanet:90625|MONDO:MONDO:0010533,MedGen:C0796028,OMIM:301835,Orphanet:1187]
hsa00040		Pentose and glucuronate interconversions
dbSNP		Type	Disease name
	-	Pathogenic	Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	-	LP/P	Developmental and epileptic encephalopathy 84 (DEE84) [MIM:618792]
	.	-	-
	rs11666105	-	-
	rs1170817007	Pathogenic	Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs121912707	Pathogenic/Likely pathogenic	Pyridoxine-dependent epilepsy|not provided|Seizure|Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006|MedGen:C3661900|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:HP:0002279,Human Phenotype Ontology:HP:0002306,Human Phenotype Ontology:HP:0002348,Human Phenotype Ontology:HP:0002391,Human Phenotype Ontology:HP:0002417,Human Phenotype Ontology:HP:0002430,Human Phenotype Ontology:HP:0002431,Human Phenotype Ontology:HP:0002432,Human Phenotype Ontology:HP:0002434,Human Phenotype Ontology:HP:0002437,Human Phenotype Ontology:HP:0002466,Human Phenotype Ontology:HP:0002479,Human Phenotype Ontology:HP:0002794,Human Phenotype Ontology:HP:0006997,Human Phenotype Ontology:HP:0010520,MedGen:C0036572|MONDO:MONDO:0020741,MedGen:CN293409]
	rs121912711	Pathogenic	Pyridoxine-dependent epilepsy|not provided [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006|MedGen:C3661900]
	rs1226928039	-	-
	rs1239594775	-	-
	rs1267443415	Pathogenic	Neuronopathy, distal hereditary motor, autosomal recessive 8 [MONDO:MONDO:0030055,MedGen:C5394466,OMIM:618912]
	rs1294400653	-	-
	rs1311982393	Pathogenic	Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs1322196849	-	-
	rs13222	LP/P	46,XY sex reversal 8 (SRXY8) [MIM:614279]
	rs1348837644	-	-
	rs138675307	-	-
	rs138887023	-	-
	rs140112768	-	-
	rs1438253227	-	-
	rs146556418	-	-
	rs149295644	-	-
	rs150526754	-	-
	rs1564317029	-	-
	rs1568021957	-	-
	rs1750309299	Pathogenic	not provided|Pyridoxine-dependent epilepsy [MedGen:C3661900|MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs1750388096	Likely pathogenic	Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs200000745	-	-
	rs200908381	-	-
	rs201321507	-	-
	rs201835306	-	-
	rs201894374	US	Developmental and epileptic encephalopathy 84 (DEE84) [MIM:618792]
	rs201948406	Pathogenic/Likely pathogenic	Pyridoxine-dependent epilepsy|not provided|Inborn genetic diseases [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006|MedGen:C3661900|MeSH:D030342,MedGen:C0950123]
	rs2234622	LB/B	-
	rs2234625	-	-
	rs2270941	-	-
	rs2458502	-	-
	rs2959896	-	-
	rs369608407	Pathogenic/Likely pathogenic	Epileptic encephalopathy|Developmental and epileptic encephalopathy, 84 [Human Phenotype Ontology:HP:0200134,MedGen:C0543888|MONDO:MONDO:0032918,MedGen:C5394081,OMIM:618792]
	rs370245703	-	-
	rs370312954	-	-
	rs372660425	Pathogenic	Pyridoxine-dependent epilepsy|not provided [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006|MedGen:C3661900]
	rs372696285	-	-
	rs372885680	-	-
	rs373645316	-	-
	rs5054	LB/B	-
	rs5056	LB/B	-
	rs556067053	-	-
	rs556400964	Pathogenic	not provided|Pyridoxine-dependent epilepsy [MedGen:C3661900|MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs559792550	-	-
	rs573040804	-	-
	rs747847507	-	-
	rs748809586	-	-
	rs749485571	-	-
	rs753288504	-	-
	rs753830206	-	-
	rs755264844	-	-
	rs756117252	-	-
	rs756827825	-	-
	rs758625590	-	-
	rs761295869	Likely pathogenic	Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs762922297	-	-
	rs765892707	-	-
	rs771427619	-	-
	rs772424772	-	-
	rs772620790	-	-
	rs773503933	-	-
	rs773593573	-	-
	rs773802985	-	-
	rs775137066	-	-
	rs776421832	-	-
	rs781200594	-	-
	rs782266548	-	-
	rs782328441	-	-
	rs79233786	-	-
	rs796052271	Pathogenic	not provided|Pyridoxine-dependent epilepsy [MedGen:C3661900|MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs864622558	Pathogenic	Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs865845501	-	-
	rs984091958	-	-
hsa00051		Fructose and mannose metabolism
dbSNP		Type	Disease name
	-	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	-	Likely pathogenic	Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]
	-	Likely pathogenic	Fructose-biphosphatase deficiency [MONDO:MONDO:0009251,MedGen:C0016756,OMIM:229700,Orphanet:348]
	-	Likely pathogenic	Glycogen storage disease, type VII [MONDO:MONDO:0009295,MedGen:C0017926,OMIM:232800,Orphanet:371]
	-	LP/P	Diabetes mellitus, permanent neonatal, 1 (PNDM1) [MIM:606176]
	-	Likely pathogenic	Maturity onset diabetes mellitus in young [Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	-	Likely pathogenic	Neuronopathy, distal hereditary motor, autosomal recessive 8 [MONDO:MONDO:0030055,MedGen:C5394466,OMIM:618912]
	.	-	-
	rs104893643	LP/P	Fructosuria (FRUCT) [MIM:229800]
	rs104893644	LP/P	Fructosuria (FRUCT) [MIM:229800]
	rs1063554	-	-
	rs1064794848	LP/P	Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547]
	rs1064794848	Pathogenic/Likely pathogenic	not provided|Neurodevelopmental disorder with visual defects and brain anomalies|Retinitis pigmentosa|Inborn genetic diseases|Hemolytic anemia due to hexokinase deficiency|Retinitis pigmentosa 79|Autism spectrum disorder [MedGen:C3661900|MONDO:MONDO:0032807,MedGen:C5231404,OMIM:618547|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009340,MedGen:C3150343,OMIM:235700,Orphanet:90031|MONDO:MONDO:0044320,MedGen:C4479526,OMIM:617460|MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586,Orphanet:106]
	rs1064795154	LP/P	Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547]
	rs11553107	LB/B	-
	rs121909533	LP/P	Glycogen storage disease 12 (GSD12) [MIM:611881]
	rs121909534	LP/P	Glycogen storage disease 12 (GSD12) [MIM:611881]
	rs121918189	-	-
	rs121918189	Pathogenic	Fructose-biphosphatase deficiency [MONDO:MONDO:0009251,MedGen:C0016756,OMIM:229700,Orphanet:348]
	rs121918190	Pathogenic	Fructose-biphosphatase deficiency [MONDO:MONDO:0009251,MedGen:C0016756,OMIM:229700,Orphanet:348]
	rs1267443415	Pathogenic	Neuronopathy, distal hereditary motor, autosomal recessive 8 [MONDO:MONDO:0030055,MedGen:C5394466,OMIM:618912]
	rs1280636156	-	-
	rs1332966015	Pathogenic	not provided|Monogenic diabetes|Maturity onset diabetes mellitus in young [MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs1337350024	-	-
	rs1375656631	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs1379500249	-	-
	rs138367050	-	-
	rs138893744	Pathogenic	Glycogen storage disease, type VII [MONDO:MONDO:0009295,MedGen:C0017926,OMIM:232800,Orphanet:371]
	rs139620518	-	-
	rs139948811	-	-
	rs139998516	-	-
	rs140641547	-	-
	rs141315355	-	-
	rs143026820	-	-
	rs143485300	-	-
	rs1438253227	-	-
	rs1441649062	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs145813597	US	Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDD) [MIM:618912]
	rs1470521850	Pathogenic	Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]
	rs148239543	-	-
	rs148311934	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs148311934	Pathogenic	Maturity-onset diabetes of the young type 2|not provided|Maturity onset diabetes mellitus in young|Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MedGen:C3661900|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]; Type 2 diabetes mellitus [Human Phenotype Ontology:HP:0005965,Human Phenotype Ontology:HP:0005978,Human Phenotype Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853]; Hyperinsulinism due to glucokinase deficiency [MONDO:MONDO:0011236,MedGen:C1865290,OMIM:602485,Orphanet:79299]; Permanent neonatal diabetes mellitus 1|Monogenic diabetes [MONDO:MONDO:0100165,MedGen:C5393570,OMIM:606176|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
	rs148627840	-	-
	rs1490487177	-	-
	rs149975952	US	Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDD) [MIM:618912]
	rs150279875	-	-
	rs1554335132	Pathogenic	not specified|Maturity onset diabetes mellitus in young|Monogenic diabetes [MedGen:CN169374|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
	rs1554335135	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs1554335135	Pathogenic/Likely pathogenic	not provided|Maturity onset diabetes mellitus in young [MedGen:CN517202|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs1554335761	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs1562715426	Pathogenic	not provided|Maturity onset diabetes mellitus in young [MedGen:C3661900|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs1564557037	LP/P	Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547]
	rs1564557037	Likely pathogenic	Neurodevelopmental disorder with visual defects and brain anomalies|Neurodevelopmental abnormality|Charcot-Marie-Tooth disease type 4G [MONDO:MONDO:0032807,MedGen:C5231404,OMIM:618547|Human Phenotype Ontology:HP:0012759,MedGen:C4022737|MONDO:MONDO:0011534,MedGen:C1854449,OMIM:605285,Orphanet:99953]
	rs181651478	-	-
	rs1831150965	Likely pathogenic	Hereditary fructosuria [Human Phenotype Ontology:HP:0005973,MONDO:MONDO:0009249,MedGen:C0016751,OMIM:229600,Orphanet:469]
	rs190292776	-	-
	rs193922297	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs193922303	Likely pathogenic	Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]
	rs193922319	Likely pathogenic	Maturity-onset diabetes of the young type 2|Maturity onset diabetes mellitus in young|Monogenic diabetes [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
	rs193922327	Pathogenic/Likely pathogenic	Maturity-onset diabetes of the young type 2|not provided [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MedGen:C3661900]
	rs199878471	-	-
	rs200544560	-	-
	rs201037118	-	-
	rs201998835	-	-
	rs2096278847	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs2096280050	US	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs2118343224	Pathogenic	Hereditary fructosuria [Human Phenotype Ontology:HP:0005973,MONDO:MONDO:0009249,MedGen:C0016751,OMIM:229600,Orphanet:469]
	rs2128820597	Pathogenic/Likely pathogenic	Maturity-onset diabetes of the young type 2|Monogenic diabetes|not provided [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:C3661900]
	rs2128821509	Likely pathogenic	Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]
	rs2135856711	Pathogenic	Glycogen storage disease, type VII [MONDO:MONDO:0009295,MedGen:C0017926,OMIM:232800,Orphanet:371]
	rs2151019295	Pathogenic/Likely pathogenic	HNSHA due to aldolase A deficiency [MONDO:MONDO:0012747,MedGen:C0272066,OMIM:611881,Orphanet:57]
	rs2959896	-	-
	rs35117690	-	-
	rs367815523	-	-
	rs376093116	-	-
	rs376690171	-	-
	rs397518462	LP/P	Alacrima, achalasia, and impaired intellectual development syndrome (AAMR) [MIM:615510]
	rs398122379	LP/P	Hexokinase deficiency (HK deficiency) [MIM:235700]
	rs541509845	-	-
	rs554595347	-	-
	rs555935217	-	-
	rs562642551	-	-
	rs566453434	Pathogenic/Likely pathogenic	not provided|Fructose-biphosphatase deficiency [MedGen:C3661900|MONDO:MONDO:0009251,MedGen:C0016756,OMIM:229700,Orphanet:348]
	rs587780346	Pathogenic/Likely pathogenic	Gestational diabetes|not provided|Monogenic diabetes|Maturity onset diabetes mellitus in young [Human Phenotype Ontology:HP:0009800,MONDO:MONDO:0005406,MedGen:C0085207|MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs747367976	-	-
	rs747847507	-	-
	rs749145675	-	-
	rs750026492	Pathogenic/Likely pathogenic	Hereditary fructosuria [Human Phenotype Ontology:HP:0005973,MONDO:MONDO:0009249,MedGen:C0016751,OMIM:229600,Orphanet:469]
	rs750714549	-	-
	rs751012777	-	-
	rs752807581	-	-
	rs754185312	-	-
	rs754994587	-	-
	rs755264844	-	-
	rs755955022	-	-
	rs756704521	-	-
	rs757746489	-	-
	rs758609113	Pathogenic/Likely pathogenic	not provided|Fructose-biphosphatase deficiency [MedGen:CN517202|MONDO:MONDO:0009251,MedGen:C0016756,OMIM:229700,Orphanet:348]
	rs758816952	-	-
	rs759725155	-	-
	rs760068551	-	-
	rs760379773	-	-
	rs760807537	-	-
	rs761714818	LP/P	Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352]
	rs762200045	-	-
	rs762369271	-	-
	rs769268803	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs769268803	Pathogenic	not provided|Permanent neonatal diabetes mellitus [MedGen:C3661900|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885]; Hyperinsulinism due to glucokinase deficiency [MONDO:MONDO:0011236,MedGen:C1865290,OMIM:602485,Orphanet:79299]; Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]; Type 2 diabetes mellitus|Maturity-onset diabetes of the young type 2 [Human Phenotype Ontology:HP:0005965,Human Phenotype Ontology:HP:0005978,Human Phenotype Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]
	rs769512330	-	-
	rs771553926	-	-
	rs772754004	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs775137066	-	-
	rs775924004	-	-
	rs779828856	-	-
	rs780442649	-	-
	rs780715532	-	-
	rs781078287	-	-
	rs781110394	-	-
	rs794727839	Likely pathogenic	not provided|Maturity-onset diabetes of the young type 2|Maturity onset diabetes mellitus in young|Monogenic diabetes|not specified [MedGen:C3661900|MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:CN169374]
	rs80356655	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs80356655	Pathogenic	Maturity-onset diabetes of the young type 2|not provided|Permanent neonatal diabetes mellitus 1|Maturity onset diabetes mellitus in young|Type 2 diabetes mellitus|Hyperinsulinism due to glucokinase deficiency|Monogenic diabetes [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MedGen:C3661900|MONDO:MONDO:0100165,MedGen:C5393570,OMIM:606176|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|Human Phenotype Ontology:HP:0005965,Human Phenotype Ontology:HP:0005978,Human Phenotype Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0011236,MedGen:C1865290,OMIM:602485,Orphanet:79299|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
	rs866904446	Pathogenic/Likely pathogenic	Glycogen storage disease, type VII [MONDO:MONDO:0009295,MedGen:C0017926,OMIM:232800,Orphanet:371]
	rs943355847	-	-
	rs992781636	-	-
hsa00052		Galactose metabolism
dbSNP		Type	Disease name
	-	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	-	Likely pathogenic	Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]
	-	LP/P	Galactosemia 2 (GALAC2) [MIM:230200]
	-	Pathogenic	Deficiency of galactokinase [MONDO:MONDO:0009255,MedGen:C0268155,OMIM:230200,Orphanet:352,Orphanet:79237]
	-	Pathogenic	not provided|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [MedGen:C3661900|MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239]
	-	LP/P	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
	-	Pathogenic	Infantile GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B [MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500,Orphanet:354,Orphanet:79255|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010,Orphanet:309310,Orphanet:582]; GM1 gangliosidosis [MONDO:MONDO:0018149,MedGen:C0085131,Orphanet:354]
	-	LP/P	GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
	-	LP/P	Glycogen storage disease 2 (GSD2) [MIM:232300]
	-	Likely pathogenic	Glycogen storage disease, type II [MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:365]
	-	Likely pathogenic	Glycogen storage disease, type VII [MONDO:MONDO:0009295,MedGen:C0017926,OMIM:232800,Orphanet:371]
	-	Pathogenic	GM1 gangliosidosis [MONDO:MONDO:0018149,MedGen:C0085131,Orphanet:354]; Mucopolysaccharidosis, MPS-IV-B [MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010,Orphanet:309310,Orphanet:582]
	-	LP/P	Fabry disease (FD) [MIM:301500]
	-	Pathogenic	Fabry disease [Human Phenotype Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324]
	-	LP/P	Diabetes mellitus, permanent neonatal, 1 (PNDM1) [MIM:606176]
	-	Likely pathogenic	Maturity onset diabetes mellitus in young [Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	-	LP/P	Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]
	-	Pathogenic	Combined low LDL and fibrinogen [MONDO:MONDO:0957260,MedGen:C5830484,OMIM:620364]
	-	Likely pathogenic	Galactosemia [Human Phenotype Ontology:HP:0004919,MONDO:MONDO:0018116,MedGen:C0016952,OMIM:PS230400,Orphanet:352]
	.	-	-
	rs1011631903	Pathogenic	Glycogen storage disease, type II [MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:365]
	rs104894009	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs104894577	Pathogenic	Deficiency of galactokinase [MONDO:MONDO:0009255,MedGen:C0268155,OMIM:230200,Orphanet:352,Orphanet:79237]
	rs104894827	LP/P	Fabry disease (FD) [MIM:301500]
	rs104894832	LP/P	Fabry disease (FD) [MIM:301500]
	rs104894835	LP/P	Fabry disease (FD) [MIM:301500]
	rs104894840	LP/P	Fabry disease (FD) [MIM:301500]
	rs104894841	Pathogenic	Fabry disease|not provided [Human Phenotype Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324|MedGen:C3661900]
	rs104894844	Pathogenic	Fabry disease [Human Phenotype Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324]
	rs104894845	LP/P	Fabry disease (FD) [MIM:301500]
	rs1057516600	LP/P	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs1057521047	LP/P	Fabry disease (FD) [MIM:301500]
	rs1064794848	LP/P	Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547]
	rs1064794848	Pathogenic/Likely pathogenic	not provided|Neurodevelopmental disorder with visual defects and brain anomalies|Retinitis pigmentosa|Inborn genetic diseases|Hemolytic anemia due to hexokinase deficiency|Retinitis pigmentosa 79|Autism spectrum disorder [MedGen:C3661900|MONDO:MONDO:0032807,MedGen:C5231404,OMIM:618547|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009340,MedGen:C3150343,OMIM:235700,Orphanet:90031|MONDO:MONDO:0044320,MedGen:C4479526,OMIM:617460|MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586,Orphanet:106]
	rs1064795154	LP/P	Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547]
	rs111033648	LP/P	Galactosemia 1 (GALAC1) [MIM:230400]
	rs111033652	LP/P	Galactosemia 1 (GALAC1) [MIM:230400]
	rs111033669	-	-
	rs111033669	LP/P	Galactosemia 1 (GALAC1) [MIM:230400]
	rs111033715	LP/P	Galactosemia 1 (GALAC1) [MIM:230400]
	rs111033715	Pathogenic/Likely pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|not provided|Galactosemia [MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239|MedGen:C3661900|Human Phenotype Ontology:HP:0004919,MONDO:MONDO:0018116,MedGen:C0016952,OMIM:PS230400,Orphanet:352]
	rs111033720	LP/P	Galactosemia 1 (GALAC1) [MIM:230400]
	rs111033725	Pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|not provided [MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239|MedGen:C3661900]
	rs111033800	LP/P	Galactosemia 1 (GALAC1) [MIM:230400]
	rs111033800	Pathogenic/Likely pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|not provided|Galactosemia [MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239|MedGen:C3661900|Human Phenotype Ontology:HP:0004919,MONDO:MONDO:0018116,MedGen:C0016952,OMIM:PS230400,Orphanet:352]
	rs111033802	LP/P	Galactosemia 1 (GALAC1) [MIM:230400]
	rs111033802	Pathogenic/Likely pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia [MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239|Human Phenotype Ontology:HP:0004919,MONDO:MONDO:0018116,MedGen:C0016952,OMIM:PS230400,Orphanet:352]
	rs111033806	Pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239]
	rs111033808	LP/P	Galactosemia 1 (GALAC1) [MIM:230400]
	rs111033808	Pathogenic/Likely pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|not provided|Galactosemia [MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239|MedGen:C3661900|Human Phenotype Ontology:HP:0004919,MONDO:MONDO:0018116,MedGen:C0016952,OMIM:PS230400,Orphanet:352]
	rs111033809	LP/P	Galactosemia 1 (GALAC1) [MIM:230400]
	rs111033810	LP/P	Galactosemia 1 (GALAC1) [MIM:230400]
	rs111033811	Pathogenic/Likely pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|not provided|Galactosemia [MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239|MedGen:C3661900|Human Phenotype Ontology:HP:0004919,MONDO:MONDO:0018116,MedGen:C0016952,OMIM:PS230400,Orphanet:352]
	rs111033812	LP/P	Galactosemia 1 (GALAC1) [MIM:230400]
	rs111033814	LP/P	Galactosemia 1 (GALAC1) [MIM:230400]
	rs111033815	LP/P	Galactosemia 1 (GALAC1) [MIM:230400]
	rs111033828	LP/P	Galactosemia 1 (GALAC1) [MIM:230400]
	rs111033832	LP/P	Galactosemia 1 (GALAC1) [MIM:230400]
	rs1131691416	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs1131691416	Pathogenic/Likely pathogenic	not provided|Maturity-onset diabetes of the young type 2|Type 2 diabetes mellitus [MedGen:C3661900|MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|Human Phenotype Ontology:HP:0005965,Human Phenotype Ontology:HP:0005978,Human Phenotype Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853]; Hyperinsulinism due to glucokinase deficiency [MONDO:MONDO:0011236,MedGen:C1865290,OMIM:602485,Orphanet:79299]; Permanent neonatal diabetes mellitus 1 [MONDO:MONDO:0100165,MedGen:C5393570,OMIM:606176]; Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]
	rs113173389	LP/P	Fabry disease (FD) [MIM:301500]
	rs115413295	-	-
	rs115413295	Pathogenic	Galactosemia 4|not provided [MONDO:MONDO:0030105,MedGen:C5394377,OMIM:618881,Orphanet:570422|MedGen:C3661900]
	rs1183869568	Pathogenic	not provided|Fabry disease [MedGen:C3661900|Human Phenotype Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324]
	rs121907937	LP/P	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs121908047	LP/P	Galactosemia 3 (GALAC3) [MIM:230350]
	rs1232001857	Likely pathogenic	Glycogen storage disease, type II [MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:365]
	rs1243515778	Pathogenic/Likely pathogenic	Glycogen storage disease, type II [MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:365]
	rs1280636156	-	-
	rs1286804191	LP/P	Diabetes mellitus, permanent neonatal, 1 (PNDM1) [MIM:606176]
	rs1301021797	LP/P	Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]
	rs1320810473	LP/P	Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]
	rs1332966015	Pathogenic	not provided|Monogenic diabetes|Maturity onset diabetes mellitus in young [MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs1360415315	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs1360415315	Pathogenic	not provided|Maturity-onset diabetes of the young type 2|Hyperinsulinism due to glucokinase deficiency [MedGen:C3661900|MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MONDO:MONDO:0011236,MedGen:C1865290,OMIM:602485,Orphanet:79299]; Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]; Permanent neonatal diabetes mellitus [MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885]; Type 2 diabetes mellitus|Maturity onset diabetes mellitus in young|Monogenic diabetes [Human Phenotype Ontology:HP:0005965,Human Phenotype Ontology:HP:0005978,Human Phenotype Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
	rs1375656631	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs1378338444	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 3 [MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650,Orphanet:79257]; Infantile GM1 gangliosidosis [MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500,Orphanet:354,Orphanet:79255]; GM1 gangliosidosis type 2|GM1 gangliosidosis [MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600,Orphanet:354,Orphanet:79256|MONDO:MONDO:0018149,MedGen:C0085131,Orphanet:354]; Mucopolysaccharidosis, MPS-IV-B [MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010,Orphanet:309310,Orphanet:582]
	rs137853860	-	-
	rs137853860	LP/P	Galactosemia 3 (GALAC3) [MIM:230350]
	rs137853861	-	-
	rs137853861	LP/P	Galactosemia 3 (GALAC3) [MIM:230350]
	rs138893744	Pathogenic	Glycogen storage disease, type VII [MONDO:MONDO:0009295,MedGen:C0017926,OMIM:232800,Orphanet:371]
	rs140826989	Pathogenic	Glycogen storage disease, type II|not provided [MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:365|MedGen:C3661900]
	rs141315355	-	-
	rs141533320	LP/P	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs142441831	-	-
	rs142481170	-	-
	rs142752477	LP/P	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs1432841878	Pathogenic	Glycogen storage disease, type II [MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:365]
	rs143485300	-	-
	rs1441649062	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs144723656	Pathogenic	Maturity-onset diabetes of the young type 2|not provided [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MedGen:CN517202]
	rs144723656	Pathogenic/Likely pathogenic	not provided|Maturity onset diabetes mellitus in young [MedGen:C3661900|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs1447365901	Pathogenic	Glycogen storage disease, type II [MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:365]
	rs144993986	Pathogenic/Likely pathogenic	not provided|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [MedGen:C3661900|MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239]
	rs1470521850	Pathogenic	Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]
	rs1476637197	Pathogenic	Maturity-onset diabetes of the young type 2|Monogenic diabetes [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
	rs148311934	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs148311934	Pathogenic	Maturity-onset diabetes of the young type 2|not provided|Maturity onset diabetes mellitus in young|Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MedGen:C3661900|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]; Type 2 diabetes mellitus [Human Phenotype Ontology:HP:0005965,Human Phenotype Ontology:HP:0005978,Human Phenotype Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853]; Hyperinsulinism due to glucokinase deficiency [MONDO:MONDO:0011236,MedGen:C1865290,OMIM:602485,Orphanet:79299]; Permanent neonatal diabetes mellitus 1|Monogenic diabetes [MONDO:MONDO:0100165,MedGen:C5393570,OMIM:606176|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
	rs1490487177	-	-
	rs1553612220	LP/P	Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
	rs1554334872	Likely pathogenic	Maturity-onset diabetes of the young type 2|Maturity onset diabetes mellitus in young [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs1554334905	Likely pathogenic	not specified|not provided|Monogenic diabetes|Maturity onset diabetes mellitus in young [MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs1554335132	Pathogenic	not specified|Maturity onset diabetes mellitus in young|Monogenic diabetes [MedGen:CN169374|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
	rs1554335135	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs1554335135	Pathogenic/Likely pathogenic	not provided|Maturity onset diabetes mellitus in young [MedGen:CN517202|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs1554335761	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs1555748630	-	-
	rs1555748926	LP/P	Galactosemia 2 (GALAC2) [MIM:230200]
	rs1562711915	Pathogenic	not provided|Monogenic diabetes|Maturity onset diabetes mellitus in young [MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs1562715426	Pathogenic	not provided|Maturity onset diabetes mellitus in young [MedGen:C3661900|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs1562717053	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs1562717053	Pathogenic	not provided|Maturity-onset diabetes of the young type 2 [MedGen:C3661900|MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]; Permanent neonatal diabetes mellitus 1 [MONDO:MONDO:0100165,MedGen:C5393570,OMIM:606176]; Type 2 diabetes mellitus [Human Phenotype Ontology:HP:0005965,Human Phenotype Ontology:HP:0005978,Human Phenotype Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853]; Hyperinsulinism due to glucokinase deficiency|Monogenic diabetes|Maturity onset diabetes mellitus in young [MONDO:MONDO:0011236,MedGen:C1865290,OMIM:602485,Orphanet:79299|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs1564100957	Likely pathogenic	not provided|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [MedGen:C3661900|MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239]
	rs1564557037	LP/P	Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547]
	rs1564557037	Likely pathogenic	Neurodevelopmental disorder with visual defects and brain anomalies|Neurodevelopmental abnormality|Charcot-Marie-Tooth disease type 4G [MONDO:MONDO:0032807,MedGen:C5231404,OMIM:618547|Human Phenotype Ontology:HP:0012759,MedGen:C4022737|MONDO:MONDO:0011534,MedGen:C1854449,OMIM:605285,Orphanet:99953]
	rs1583591303	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs1583599303	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs1583599303	Pathogenic/Likely pathogenic/Likely risk allele	not provided|Monogenic diabetes|Maturity onset diabetes mellitus in young [MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs1699002261	Likely pathogenic	GM1 gangliosidosis type 3 [MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650,Orphanet:79257]; GM1 gangliosidosis type 2 [MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600,Orphanet:354,Orphanet:79256]; Infantile GM1 gangliosidosis [MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500,Orphanet:354,Orphanet:79255]
	rs1699791081	Likely pathogenic	GM1 gangliosidosis [MONDO:MONDO:0018149,MedGen:C0085131,Orphanet:354]; Mucopolysaccharidosis, MPS-IV-B [MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010,Orphanet:309310,Orphanet:582]
	rs1800299	LB/B	-
	rs190285241	-	-
	rs1928132914	Likely pathogenic	Fabry disease [Human Phenotype Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324]
	rs1928137126	Likely pathogenic	Fabry disease [Human Phenotype Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324]
	rs1928189534	Pathogenic	Fabry disease|not provided [Human Phenotype Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324|MedGen:C3661900]
	rs1928195468	LP/P	Fabry disease (FD) [MIM:301500]
	rs1928326804	Pathogenic	Fabry disease [Human Phenotype Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324]
	rs1928406948	Likely pathogenic	Fabry disease [Human Phenotype Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324]
	rs193922272	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs193922281	Pathogenic/Likely pathogenic	Maturity-onset diabetes of the young type 2|not provided|Maturity onset diabetes mellitus in young [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MedGen:C3661900|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs193922282	Likely pathogenic	Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]
	rs193922282	LP/P	Diabetes mellitus, permanent neonatal, 1 (PNDM1) [MIM:606176]
	rs193922290	Likely pathogenic/Likely risk allele	Maturity-onset diabetes of the young type 2|Maturity onset diabetes mellitus in young [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs193922297	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs193922311	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs193922319	Likely pathogenic	Maturity-onset diabetes of the young type 2|Maturity onset diabetes mellitus in young|Monogenic diabetes [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
	rs193922327	Pathogenic/Likely pathogenic	Maturity-onset diabetes of the young type 2|not provided [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MedGen:C3661900]
	rs200544560	-	-
	rs2039041225	Pathogenic	Glycogen storage disease, type II [MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:365]
	rs2039217093	Pathogenic/Likely pathogenic	Glycogen storage disease, type II|not provided [MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:365|MedGen:C3661900]
	rs2061598873	Likely pathogenic	Deficiency of galactokinase [MONDO:MONDO:0009255,MedGen:C0268155,OMIM:230200,Orphanet:352,Orphanet:79237]
	rs2096273902	Likely pathogenic	not provided|Maturity onset diabetes mellitus in young|Monogenic diabetes [MedGen:C3661900|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
	rs2096280050	US	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs2096281827	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs2128820597	Pathogenic/Likely pathogenic	Maturity-onset diabetes of the young type 2|Monogenic diabetes|not provided [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:C3661900]
	rs2128821509	Likely pathogenic	Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]
	rs2132341560	Likely pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239]
	rs2135856711	Pathogenic	Glycogen storage disease, type VII [MONDO:MONDO:0009295,MedGen:C0017926,OMIM:232800,Orphanet:371]
	rs2143827215	Likely pathogenic	Glycogen storage disease, type II [MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:365]
	rs2143857207	Pathogenic/Likely pathogenic	Glycogen storage disease, type II [MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:365]
	rs2143871845	Pathogenic	Glycogen storage disease, type II [MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:365]
	rs2147480697	Likely pathogenic	Fabry disease [Human Phenotype Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324]
	rs28935487	LP/P	Fabry disease (FD) [MIM:301500]
	rs28935491	LP/P	Fabry disease (FD) [MIM:301500]
	rs28935492	LP/P	Fabry disease (FD) [MIM:301500]
	rs28940868	LP/P	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs367543259	LP/P	Galactosemia 1 (GALAC1) [MIM:230400]
	rs368438393	LP/P	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs370107958	Likely pathogenic	not specified|Mucopolysaccharidosis, MPS-IV-B [MedGen:CN169374|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010,Orphanet:309310,Orphanet:582]
	rs371517491	-	-
	rs371517491	Pathogenic/Likely pathogenic	Deficiency of galactokinase [MONDO:MONDO:0009255,MedGen:C0268155,OMIM:230200,Orphanet:352,Orphanet:79237]
	rs373307393	Pathogenic	not provided|Glycogen storage disease, type II [MedGen:C3661900|MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:365]
	rs375310352	-	-
	rs375690568	LP/P	Galactosemia 2 (GALAC2) [MIM:230200]
	rs376663785	LP/P	GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
	rs376663785	Pathogenic/Likely pathogenic	not provided|Inborn genetic diseases|Mucopolysaccharidosis, MPS-IV-B [MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010,Orphanet:309310,Orphanet:582]; GM1 gangliosidosis|GM1 gangliosidosis type 2 [MONDO:MONDO:0018149,MedGen:C0085131,Orphanet:354|MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600,Orphanet:354,Orphanet:79256]; Infantile GM1 gangliosidosis [MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500,Orphanet:354,Orphanet:79255]; Mucopolysaccharidosis, MPS-IV-B [MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010,Orphanet:309310,Orphanet:582]; GM1 gangliosidosis type 3|Mucopolysaccharidosis, MPS-IV-B|GLB1-Related Disorders [MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650,Orphanet:79257|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010,Orphanet:309310,Orphanet:582|MedGen:CN169666]
	rs377544304	LP/P	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs398122379	LP/P	Hexokinase deficiency (HK deficiency) [MIM:235700]
	rs398123174	LP/P	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs398123182	Pathogenic/Likely pathogenic	not provided|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [MedGen:C3661900|MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239]
	rs398123221	Pathogenic	not provided|Fabry disease [MedGen:C3661900|Human Phenotype Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324]
	rs5054	LB/B	-
	rs5056	LB/B	-
	rs533469192	-	-
	rs549029029	LP/P	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs551564683	LB/B	-
	rs587780346	Pathogenic/Likely pathogenic	Gestational diabetes|not provided|Monogenic diabetes|Maturity onset diabetes mellitus in young [Human Phenotype Ontology:HP:0009800,MONDO:MONDO:0005406,MedGen:C0085207|MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs72555362	LP/P	Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
	rs72555364	LP/P	Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
	rs727503942	-	-
	rs727505292	US	Fabry disease (FD) [MIM:301500]
	rs730880451	LP/P	Fabry disease (FD) [MIM:301500]
	rs746913146	Pathogenic	not provided|Maturity onset diabetes mellitus in young|Monogenic diabetes [MedGen:C3661900|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
	rs748225017	-	-
	rs75391579	LP/P	Galactosemia 1 (GALAC1) [MIM:230400]
	rs754185312	-	-
	rs754967473	-	-
	rs754967473	LP/P	Galactosemia 2 (GALAC2) [MIM:230200]
	rs754994587	-	-
	rs757111744	-	-
	rs757111744	LP/P	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs757746489	-	-
	rs758737171	LP/P	Hyperinsulinemic hypoglycemia, familial, 3 (HHF3) [MIM:602485]
	rs763216519	Pathogenic	Glycogen storage disease, type II [MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:365]
	rs764670084	-	-
	rs764670084	LP/P	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs768722066	-	-
	rs769268803	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs769268803	Pathogenic	not provided|Permanent neonatal diabetes mellitus [MedGen:C3661900|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885]; Hyperinsulinism due to glucokinase deficiency [MONDO:MONDO:0011236,MedGen:C1865290,OMIM:602485,Orphanet:79299]; Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]; Type 2 diabetes mellitus|Maturity-onset diabetes of the young type 2 [Human Phenotype Ontology:HP:0005965,Human Phenotype Ontology:HP:0005978,Human Phenotype Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]
	rs769512330	-	-
	rs770231054	Likely pathogenic	Maturity onset diabetes mellitus in young [Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
	rs772754004	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs772883420	LP/P	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs773416476	LB/B	-
	rs775137066	-	-
	rs776407980	-	-
	rs778418246	LP/P	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs779828856	-	-
	rs780715532	-	-
	rs781110394	-	-
	rs782085638	Pathogenic	Fabry disease [Human Phenotype Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324]
	rs786204720	LP/P	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs794727839	Likely pathogenic	not provided|Maturity-onset diabetes of the young type 2|Maturity onset diabetes mellitus in young|Monogenic diabetes|not specified [MedGen:C3661900|MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:CN169374]
	rs796161389	Pathogenic/Likely pathogenic	Glycogen storage disease, type II|not provided [MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:365|MedGen:C3661900]
	rs797044727	Likely pathogenic	Fabry disease|not provided [Human Phenotype Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324|MedGen:C3661900]
	rs797044749	Pathogenic/Likely pathogenic	Fabry disease|not provided|Cardiovascular phenotype [Human Phenotype Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324|MedGen:C3661900|MedGen:CN230736]
	rs797044774	LP/P	Fabry disease (FD) [MIM:301500]
	rs80356655	LP/P	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs80356655	Pathogenic	Maturity-onset diabetes of the young type 2|not provided|Permanent neonatal diabetes mellitus 1|Maturity onset diabetes mellitus in young|Type 2 diabetes mellitus|Hyperinsulinism due to glucokinase deficiency|Monogenic diabetes [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MedGen:C3661900|MONDO:MONDO:0100165,MedGen:C5393570,OMIM:606176|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|Human Phenotype Ontology:HP:0005965,Human Phenotype Ontology:HP:0005978,Human Phenotype Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0011236,MedGen:C1865290,OMIM:602485,Orphanet:79299|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
	rs866904446	Pathogenic/Likely pathogenic	Glycogen storage disease, type VII [MONDO:MONDO:0009295,MedGen:C0017926,OMIM:232800,Orphanet:371]
	rs869312136	US	Fabry disease (FD) [MIM:301500]
	rs869312137	US	Fabry disease (FD) [MIM:301500]
	rs869312138	LP/P	Fabry disease (FD) [MIM:301500]
	rs869312153	US	Fabry disease (FD) [MIM:301500]
	rs869312159	US	Fabry disease (FD) [MIM:301500]
	rs869312160	LP/P	Fabry disease (FD) [MIM:301500]
	rs869312161	US	Fabry disease (FD) [MIM:301500]
	rs869312163	LP/P	Fabry disease (FD) [MIM:301500]
	rs869312214	LP/P	Fabry disease (FD) [MIM:301500]
	rs869312218	Pathogenic	Fabry disease|not provided [Human Phenotype Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324|MedGen:C3661900]
	rs869312224	LP/P	Fabry disease (FD) [MIM:301500]
	rs869312254	LP/P	Fabry disease (FD) [MIM:301500]
	rs869312255	Likely pathogenic	Fabry disease [Human Phenotype Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324]
	rs869312256	LP/P	Fabry disease (FD) [MIM:301500]
	rs869312270	LP/P	Fabry disease (FD) [MIM:301500]
	rs869312317	Likely pathogenic	Fabry disease|not provided [Human Phenotype Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324|MedGen:C3661900]
	rs869312318	LP/P	Fabry disease (FD) [MIM:301500]
	rs869312393	LP/P	Fabry disease (FD) [MIM:301500]
	rs869312396	Likely pathogenic	Fabry disease [Human Phenotype Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324]
	rs869312399	LP/P	Fabry disease (FD) [MIM:301500]
	rs869312407	LP/P	Fabry disease (FD) [MIM:301500]
	rs869312408	Likely pathogenic	Fabry disease [Human Phenotype Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324]
	rs879050821	LP/P	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
	rs886041315	LP/P	Fabry disease (FD) [MIM:301500]
	rs886042079	LB/B	-
	rs886042079	Likely pathogenic	Infantile GM1 gangliosidosis [MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500,Orphanet:354,Orphanet:79255]
	rs886042088	Pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239]
	rs886042097	Likely pathogenic	not provided|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [MedGen:C3661900|MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239]
	rs886042961	Pathogenic	Glycogen storage disease, type II [MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:365]
	rs886044843	Pathogenic/Likely pathogenic	not provided|Fabry disease [MedGen:C3661900|Human Phenotype Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324]
	rs886044845	LP/P	Fabry disease (FD) [MIM:301500]
	rs915070690	Likely pathogenic	Deficiency of galactokinase [MONDO:MONDO:0009255,MedGen:C0268155,OMIM:230200,Orphanet:352,Orphanet:79237]
	rs968221254	LP/P	Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
	rs981970282	-	-
hsa00053		Ascorbate and aldarate metabolism
dbSNP		Type	Disease name
	-	Pathogenic	Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	-	LP/P	Developmental and epileptic encephalopathy 84 (DEE84) [MIM:618792]
	.	-	-
	rs11509436	LB/B	-
	rs11509438	LB/B	-
	rs11509439	LB/B	-
	rs1170817007	Pathogenic	Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs121912707	Pathogenic/Likely pathogenic	Pyridoxine-dependent epilepsy|not provided|Seizure|Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006|MedGen:C3661900|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:HP:0002279,Human Phenotype Ontology:HP:0002306,Human Phenotype Ontology:HP:0002348,Human Phenotype Ontology:HP:0002391,Human Phenotype Ontology:HP:0002417,Human Phenotype Ontology:HP:0002430,Human Phenotype Ontology:HP:0002431,Human Phenotype Ontology:HP:0002432,Human Phenotype Ontology:HP:0002434,Human Phenotype Ontology:HP:0002437,Human Phenotype Ontology:HP:0002466,Human Phenotype Ontology:HP:0002479,Human Phenotype Ontology:HP:0002794,Human Phenotype Ontology:HP:0006997,Human Phenotype Ontology:HP:0010520,MedGen:C0036572|MONDO:MONDO:0020741,MedGen:CN293409]
	rs121912711	Pathogenic	Pyridoxine-dependent epilepsy|not provided [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006|MedGen:C3661900]
	rs1239594775	-	-
	rs1292504288	-	-
	rs1311982393	Pathogenic	Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs1348837644	-	-
	rs138887023	-	-
	rs1454273149	-	-
	rs146556418	-	-
	rs1475371630	-	-
	rs148563375	-	-
	rs150526754	-	-
	rs151151350	-	-
	rs1750309299	Pathogenic	not provided|Pyridoxine-dependent epilepsy [MedGen:C3661900|MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs1750388096	Likely pathogenic	Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs200000745	-	-
	rs200602157	-	-
	rs201321507	-	-
	rs201522765	-	-
	rs201835306	-	-
	rs201894374	US	Developmental and epileptic encephalopathy 84 (DEE84) [MIM:618792]
	rs201948406	Pathogenic/Likely pathogenic	Pyridoxine-dependent epilepsy|not provided|Inborn genetic diseases [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006|MedGen:C3661900|MeSH:D030342,MedGen:C0950123]
	rs2458502	-	-
	rs369608407	Pathogenic/Likely pathogenic	Epileptic encephalopathy|Developmental and epileptic encephalopathy, 84 [Human Phenotype Ontology:HP:0200134,MedGen:C0543888|MONDO:MONDO:0032918,MedGen:C5394081,OMIM:618792]
	rs372660425	Pathogenic	Pyridoxine-dependent epilepsy|not provided [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006|MedGen:C3661900]
	rs556400964	Pathogenic	not provided|Pyridoxine-dependent epilepsy [MedGen:C3661900|MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs573040804	-	-
	rs61755740	-	-
	rs757707616	-	-
	rs761295869	Likely pathogenic	Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs762922297	-	-
	rs773503933	-	-
	rs776421832	-	-
	rs796052271	Pathogenic	not provided|Pyridoxine-dependent epilepsy [MedGen:C3661900|MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs864622558	Pathogenic	Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
hsa00061		Fatty acid biosynthesis
dbSNP		Type	Disease name
	.	-	-
	rs1009899437	-	-
	rs1018160528	-	-
	rs113931914	LB/B	-
	rs1357271377	US	A colorectal cancer sample
	rs1379750290	-	-
	rs1384884525	-	-
	rs139276176	-	-
	rs139545909	-	-
	rs140112183	-	-
	rs141275719	-	-
	rs144457204	-	-
	rs1464624373	-	-
	rs148026894	-	-
	rs148840593	-	-
	rs149224679	-	-
	rs1555668215	-	-
	rs17848945	-	-
	rs200775885	-	-
	rs200840955	-	-
	rs200842352	-	-
	rs201182683	-	-
	rs201551371	-	-
	rs2228307	LB/B	-
	rs368171697	-	-
	rs370433029	-	-
	rs45489599	-	-
	rs527625651	-	-
	rs536230471	-	-
	rs539939995	-	-
	rs546995952	-	-
	rs549257982	-	-
	rs557050126	-	-
	rs748930040	-	-
	rs750541652	-	-
	rs752767411	-	-
	rs753704338	-	-
	rs755372392	-	-
	rs755971315	-	-
	rs756482744	-	-
	rs758221850	-	-
	rs758311283	-	-
	rs758552144	-	-
	rs759583791	-	-
	rs761208637	-	-
	rs763857057	-	-
	rs766712508	-	-
	rs766955776	-	-
	rs767347856	-	-
	rs769391843	-	-
	rs769948189	-	-
	rs775705403	-	-
	rs779383660	-	-
	rs80133417	-	-
	rs887438250	-	-
	rs9890362	-	-
hsa00062		Fatty acid elongation
dbSNP		Type	Disease name
	-	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	-	Likely pathogenic	Deficiency of 3-hydroxyacyl-CoA dehydrogenase [MONDO:MONDO:0017715,MedGen:C1291230,OMIM:231530,Orphanet:309127,Orphanet:71212]
	-	Likely pathogenic	Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	-	Likely pathogenic	Perrault syndrome [MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855]; Bifunctional peroxisomal enzyme deficiency [MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Orphanet:300]
	.	-	-
	rs104886492	US	HSD10 mitochondrial disease (HSD10MD) [MIM:300438]
	rs1049568	-	-
	rs1057519286	Pathogenic	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities|Childhood Onset Dystonias [MONDO:MONDO:0015003,MedGen:C4310634,OMIM:617282,Orphanet:508093|MedGen:C0752202]; Optic atrophy|not provided [Human Phenotype Ontology:HP:0000648,Human Phenotype Ontology:HP:0007751,Human Phenotype Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124|MedGen:C3661900]
	rs112441786	-	-
	rs1128400	-	-
	rs11544658	LB/B	-
	rs120074140	LP/P	3-ketothiolase deficiency (3KTD) [MIM:203750]
	rs120074141	LP/P	3-ketothiolase deficiency (3KTD) [MIM:203750]
	rs120074145	LP/P	3-ketothiolase deficiency (3KTD) [MIM:203750]
	rs1202368985	-	-
	rs1233969418	Pathogenic	Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs1245431558	-	-
	rs1256975692	-	-
	rs1259755308	Likely pathogenic	Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	rs1278227329	Pathogenic/Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase|not provided [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134|MedGen:C3661900]
	rs1296824835	-	-
	rs13222	Pathogenic	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency [Gene:6994,MONDO:MONDO:0013664,MedGen:C1839840,OMIM:614279,Orphanet:443087]
	rs1355672978	-	-
	rs137852695	Pathogenic	Neuronal ceroid lipofuscinosis 1|not provided|Neuronal ceroid lipofuscinosis|Inborn genetic diseases [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329|MedGen:C3661900|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MeSH:D030342,MedGen:C0950123]
	rs137852696	Pathogenic	Neuronal ceroid lipofuscinosis 1|not provided|Retinitis pigmentosa|Inborn genetic diseases|PPT1-related condition [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329|MedGen:C3661900|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MeSH:D030342,MedGen:C0950123|]
	rs137852697	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 1|not provided [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329|MedGen:C3661900]
	rs137852698	Pathogenic	Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	rs137852700	-	-
	rs137852700	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 1|not provided|Neuronal Ceroid-Lipofuscinosis, Recessive|Neuronal ceroid lipofuscinosis|Inborn genetic diseases|PPT1-related condition [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329|MedGen:C3661900|MedGen:CN239323|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MeSH:D030342,MedGen:C0950123|]
	rs137852702	Pathogenic	Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	rs137853096	LP/P	D-bifunctional protein deficiency (DBPD) [MIM:261515]
	rs137853101	LP/P	3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
	rs137853102	LP/P	3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
	rs138675307	-	-
	rs1392361503	Pathogenic	Perrault syndrome [MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855]; Bifunctional peroxisomal enzyme deficiency [MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Orphanet:300]
	rs140387106	-	-
	rs143657539	Pathogenic/Likely pathogenic	Inborn genetic diseases|Neuronal ceroid lipofuscinosis 1|Neuronal ceroid lipofuscinosis [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263]
	rs1437567292	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs144457204	-	-
	rs147168294	-	-
	rs1477443863	Pathogenic	Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	rs148412181	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 1|not provided|Neuronal ceroid lipofuscinosis|Global developmental delay [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329|MedGen:C3661900|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phenotype Ontology:HP:0001292,Human Phenotype Ontology:HP:0002433,Human Phenotype Ontology:HP:0002473,Human Phenotype Ontology:HP:0002532,Human Phenotype Ontology:HP:0006793,Human Phenotype Ontology:HP:0006867,Human Phenotype Ontology:HP:0006885,Human Phenotype Ontology:HP:0006935,Human Phenotype Ontology:HP:0007005,Human Phenotype Ontology:HP:0007094,Human Phenotype Ontology:HP:0007106,Human Phenotype Ontology:HP:0007174,Human Phenotype Ontology:HP:0007224,Human Phenotype Ontology:HP:0007228,Human Phenotype Ontology:HP:0007342,Human Phenotype Ontology:HP:0025356,MedGen:C0557874]
	rs148412181	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 1|Retinitis pigmentosa|not provided|Inborn genetic diseases [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900|MeSH:D030342,MedGen:C0950123]
	rs149033118	-	-
	rs149295644	-	-
	rs1557714302	Likely pathogenic	Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	rs1561442127	Likely pathogenic	Perrault syndrome [MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855]; Bifunctional peroxisomal enzyme deficiency [MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Orphanet:300]
	rs1564317029	-	-
	rs1565291981	-	-
	rs1591363760	Pathogenic/Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs1591374629	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs1591374632	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs1649619197	Likely pathogenic	Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	rs199695749	-	-
	rs200195789	-	-
	rs200908381	-	-
	rs202015012	-	-
	rs202093592	-	-
	rs2124470378	Pathogenic	Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	rs2124474566	Likely pathogenic	Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	rs2124484378	Likely pathogenic	Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	rs2134768688	Pathogenic	Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs2134768866	Pathogenic	Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs367902441	-	-
	rs370245703	-	-
	rs370433029	-	-
	rs370720208	Pathogenic/Likely pathogenic	not provided|Deficiency of acetyl-CoA acetyltransferase [MedGen:C3661900|MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs371834662	-	-
	rs374810645	-	-
	rs375253960	-	-
	rs386833626	Likely pathogenic	Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	rs386833627	Likely pathogenic	Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	rs386833647	Likely pathogenic	Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	rs386833648	Likely pathogenic	Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	rs386833649	-	-
	rs386833649	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	rs386833650	Pathogenic	Neuronal ceroid lipofuscinosis 1|not provided [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329|MedGen:C3661900]
	rs386833654	Likely pathogenic	Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	rs386833655	-	-
	rs386833655	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 1|not provided|Inborn genetic diseases|Neuronal ceroid lipofuscinosis [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263]
	rs386833656	Likely pathogenic	Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	rs386833657	Likely pathogenic	Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	rs386833658	Likely pathogenic	Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	rs386833661	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 1|Neuronal ceroid lipofuscinosis|Spastic ataxia [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|Human Phenotype Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226]
	rs386833663	Likely pathogenic	Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	rs386833665	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 1|not provided|Neuronal ceroid lipofuscinosis [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329|MedGen:C3661900|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263]
	rs386833666	Likely pathogenic	Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	rs386833668	Pathogenic	Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	rs386833669	Likely pathogenic	Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	rs532190594	Pathogenic	not provided|Deficiency of acetyl-CoA acetyltransferase [MedGen:C3661900|MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs541517496	Pathogenic/Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs545752791	-	-
	rs550705310	-	-
	rs556081405	-	-
	rs56069624	-	-
	rs566644923	-	-
	rs577954688	-	-
	rs74428123	-	-
	rs745423719	-	-
	rs748303093	Pathogenic/Likely pathogenic	not provided|Deficiency of acetyl-CoA acetyltransferase [MedGen:C3661900|MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs749485571	-	-
	rs750195919	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs752087770	-	-
	rs753816946	-	-
	rs756168037	-	-
	rs758553855	-	-
	rs759218713	LP/P	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG) [MIM:617282]
	rs761282960	Pathogenic	Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs763463911	-	-
	rs763536047	-	-
	rs763857057	-	-
	rs764051026	Likely pathogenic	not provided|Neuronal ceroid lipofuscinosis 1 [MedGen:C3661900|MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	rs766961054	-	-
	rs768448235	-	-
	rs768550964	-	-
	rs768742328	-	-
	rs768902719	-	-
	rs772087249	-	-
	rs772780687	-	-
	rs773491386	Pathogenic	Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs774809147	-	-
	rs776806726	-	-
	rs776965057	-	-
	rs779135938	Likely pathogenic	Deficiency of 3-hydroxyacyl-CoA dehydrogenase|Hyperinsulinemic hypoglycemia|Hyperinsulinemic hypoglycemia, familial, 4 [MONDO:MONDO:0017715,MedGen:C1291230,OMIM:231530,Orphanet:309127,Orphanet:71212|Human Phenotype Ontology:HP:0000825,MONDO:MONDO:0005803,MedGen:C1864903,OMIM:PS256450,Orphanet:443095|MONDO:MONDO:0012382,MedGen:C1864948,OMIM:609975,Orphanet:71212]
	rs779634821	-	-
	rs781200594	-	-
	rs782266548	-	-
	rs782328441	-	-
	rs796052925	Pathogenic/Likely pathogenic	not provided|Neuronal ceroid lipofuscinosis 1 [MedGen:C3661900|MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	rs80133417	-	-
	rs866346652	-	-
	rs878853322	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	rs878853323	Likely pathogenic	Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	rs878853324	Likely pathogenic	Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
	rs886037927	Likely pathogenic	HSD10 mitochondrial disease [MONDO:MONDO:0010327,MedGen:C3266731,OMIM:300438,Orphanet:391417,Orphanet:85295]
	rs887438250	-	-
hsa00071		Fatty acid degradation
dbSNP		Type	Disease name
	-	Likely pathogenic	Medium-chain acyl-coenzyme A dehydrogenase deficiency [MONDO:MONDO:0008721,MedGen:C0220710,OMIM:201450,Orphanet:42]
	-	LP/P	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
	-	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	-	Likely pathogenic	Deficiency of 3-hydroxyacyl-CoA dehydrogenase [MONDO:MONDO:0017715,MedGen:C1291230,OMIM:231530,Orphanet:309127,Orphanet:71212]
	-	Pathogenic	Acyl-CoA oxidase deficiency [MONDO:MONDO:0009919,MedGen:C1849678,OMIM:264470,Orphanet:2971]
	-	Pathogenic	Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	-	Pathogenic/Likely pathogenic	Carnitine palmitoyltransferase II deficiency|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
	-	LP/P	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
	-	Likely pathogenic	Isolated microphthalmia 8 [MONDO:MONDO:0014050,MedGen:C3554524,OMIM:615113,Orphanet:2542]
	-	Likely pathogenic	Perrault syndrome [MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855]; Bifunctional peroxisomal enzyme deficiency [MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Orphanet:300]
	.	-	-
	rs1041969	LB/B	-
	rs104886492	US	HSD10 mitochondrial disease (HSD10MD) [MIM:300438]
	rs1057516564	Likely pathogenic	Medium-chain acyl-coenzyme A dehydrogenase deficiency [MONDO:MONDO:0008721,MedGen:C0220710,OMIM:201450,Orphanet:42]
	rs1057517492	Pathogenic/Likely pathogenic	Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, myopathic form|not provided [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302|MedGen:C3661900]
	rs1057517517	Likely pathogenic	Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, myopathic form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302]
	rs1126673	-	-
	rs1135640	-	-
	rs115638369	-	-
	rs1170817007	Pathogenic	Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs118204090	Pathogenic	Acyl-CoA oxidase deficiency [MONDO:MONDO:0009919,MedGen:C1849678,OMIM:264470,Orphanet:2971]
	rs118204091	-	-
	rs118204091	Pathogenic	Acyl-CoA oxidase deficiency [MONDO:MONDO:0009919,MedGen:C1849678,OMIM:264470,Orphanet:2971]
	rs118204092	Pathogenic	Acyl-CoA oxidase deficiency [MONDO:MONDO:0009919,MedGen:C1849678,OMIM:264470,Orphanet:2971]
	rs1196921350	-	-
	rs120074140	LP/P	3-ketothiolase deficiency (3KTD) [MIM:203750]
	rs120074141	LP/P	3-ketothiolase deficiency (3KTD) [MIM:203750]
	rs120074145	LP/P	3-ketothiolase deficiency (3KTD) [MIM:203750]
	rs1202368985	-	-
	rs121434275	LP/P	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
	rs121434278	-	-
	rs121434278	LP/P	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
	rs121434279	LP/P	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
	rs121434281	LP/P	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
	rs121434283	LP/P	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
	rs121912707	Pathogenic/Likely pathogenic	Pyridoxine-dependent epilepsy|not provided|Seizure|Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006|MedGen:C3661900|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:HP:0002279,Human Phenotype Ontology:HP:0002306,Human Phenotype Ontology:HP:0002348,Human Phenotype Ontology:HP:0002391,Human Phenotype Ontology:HP:0002417,Human Phenotype Ontology:HP:0002430,Human Phenotype Ontology:HP:0002431,Human Phenotype Ontology:HP:0002432,Human Phenotype Ontology:HP:0002434,Human Phenotype Ontology:HP:0002437,Human Phenotype Ontology:HP:0002466,Human Phenotype Ontology:HP:0002479,Human Phenotype Ontology:HP:0002794,Human Phenotype Ontology:HP:0006997,Human Phenotype Ontology:HP:0010520,MedGen:C0036572|MONDO:MONDO:0020741,MedGen:CN293409]
	rs121912711	Pathogenic	Pyridoxine-dependent epilepsy|not provided [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006|MedGen:C3661900]
	rs121918528	Pathogenic/Likely pathogenic	Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, neonatal form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308]; Carnitine palmitoyl transferase II deficiency, myopathic form [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302]; Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]; Encephalopathy, acute, infection-induced, susceptibility to, 4|not provided|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524|MedGen:C3661900|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
	rs1229984	LB/B	-
	rs1233969418	Pathogenic	Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs1256975692	-	-
	rs1260394550	Likely pathogenic	Medium-chain acyl-coenzyme A dehydrogenase deficiency [MONDO:MONDO:0008721,MedGen:C0220710,OMIM:201450,Orphanet:42]
	rs1278227329	Pathogenic/Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase|not provided [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134|MedGen:C3661900]
	rs1296824835	-	-
	rs1311982393	Pathogenic	Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs137853096	LP/P	D-bifunctional protein deficiency (DBPD) [MIM:261515]
	rs137853101	LP/P	3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
	rs137853102	LP/P	3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
	rs1392361503	Pathogenic	Perrault syndrome [MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855]; Bifunctional peroxisomal enzyme deficiency [MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Orphanet:300]
	rs1401737158	-	-
	rs140629318	LP/P	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
	rs1432183079	LP/P	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
	rs1437567292	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs145712373	-	-
	rs1466072211	-	-
	rs1469108369	Likely pathogenic	Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]
	rs1471862905	-	-
	rs149408684	-	-
	rs1553169771	Likely pathogenic	Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]
	rs1553170005	Likely pathogenic	Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]
	rs1557466604	Likely pathogenic	Medium-chain acyl-coenzyme A dehydrogenase deficiency [MONDO:MONDO:0008721,MedGen:C0220710,OMIM:201450,Orphanet:42]
	rs1561442127	Likely pathogenic	Perrault syndrome [MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855]; Bifunctional peroxisomal enzyme deficiency [MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Orphanet:300]
	rs1565291981	-	-
	rs1567876984	Pathogenic/Likely pathogenic	ACOX1-related condition|Mitchell syndrome|not provided|ACOX1-related disorders|Acyl-CoA oxidase deficiency|Inborn genetic diseases [|MONDO:MONDO:0030073,MedGen:C5394554,OMIM:618960|MedGen:C3661900||MONDO:MONDO:0009919,MedGen:C1849678,OMIM:264470,Orphanet:2971|MeSH:D030342,MedGen:C0950123]
	rs1570876467	Pathogenic/Likely pathogenic	Medium-chain acyl-coenzyme A dehydrogenase deficiency [MONDO:MONDO:0008721,MedGen:C0220710,OMIM:201450,Orphanet:42]
	rs1591363760	Pathogenic/Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs1591374629	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs1591374632	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs1750309299	Pathogenic	not provided|Pyridoxine-dependent epilepsy [MedGen:C3661900|MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs1750388096	Likely pathogenic	Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs1799821	-	-
	rs1799822	-	-
	rs192275019	-	-
	rs199695749	-	-
	rs200080591	Pathogenic	Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, severe infantile form|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
	rs200366828	LP/P	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
	rs201865375	-	-
	rs201865375	Pathogenic/Likely pathogenic	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided [MONDO:MONDO:0014563,MedGen:C4225391,OMIM:616277,Orphanet:255241|MedGen:C3661900]
	rs201934016	-	-
	rs201948406	Pathogenic/Likely pathogenic	Pyridoxine-dependent epilepsy|not provided|Inborn genetic diseases [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006|MedGen:C3661900|MeSH:D030342,MedGen:C0950123]
	rs201996784	-	-
	rs202015012	-	-
	rs2066702	LB/B	-
	rs2100417374	Likely pathogenic	Medium-chain acyl-coenzyme A dehydrogenase deficiency [MONDO:MONDO:0008721,MedGen:C0220710,OMIM:201450,Orphanet:42]
	rs2100417476	Likely pathogenic	Medium-chain acyl-coenzyme A dehydrogenase deficiency [MONDO:MONDO:0008721,MedGen:C0220710,OMIM:201450,Orphanet:42]
	rs2100453612	Pathogenic	Medium-chain acyl-coenzyme A dehydrogenase deficiency [MONDO:MONDO:0008721,MedGen:C0220710,OMIM:201450,Orphanet:42]
	rs2134768688	Pathogenic	Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs2134768866	Pathogenic	Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs2229291	-	-
	rs28730628	LB/B	-
	rs28936674	-	-
	rs28936674	Pathogenic/Likely pathogenic	Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyltransferase II deficiency|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
	rs35385902	LB/B	-
	rs367861880	-	-
	rs367902441	-	-
	rs368311455	-	-
	rs368311455	Pathogenic/Likely pathogenic	Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, severe infantile form|not provided|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MedGen:C3661900|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
	rs370720208	Pathogenic/Likely pathogenic	not provided|Deficiency of acetyl-CoA acetyltransferase [MedGen:C3661900|MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs371582393	Likely pathogenic	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency [MONDO:MONDO:0014563,MedGen:C4225391,OMIM:616277,Orphanet:255241]
	rs371834662	-	-
	rs372660425	Pathogenic	Pyridoxine-dependent epilepsy|not provided [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006|MedGen:C3661900]
	rs3744032	-	-
	rs375032130	Pathogenic/Likely pathogenic	not provided|Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|See cases [MedGen:C3661900|MONDO:MONDO:0014563,MedGen:C4225391,OMIM:616277,Orphanet:255241|]
	rs375266808	Pathogenic	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided [MONDO:MONDO:0014563,MedGen:C4225391,OMIM:616277,Orphanet:255241|MedGen:C3661900]
	rs377699817	-	-
	rs387906253	LP/P	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
	rs515726177	Pathogenic/Likely pathogenic	Carnitine palmitoyltransferase II deficiency|not provided|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, neonatal form [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MedGen:C3661900|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308]; Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]; Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]; Carnitine palmitoyl transferase II deficiency, myopathic form|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
	rs532190594	Pathogenic	not provided|Deficiency of acetyl-CoA acetyltransferase [MedGen:C3661900|MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs539239516	Pathogenic	Carnitine palmitoyltransferase II deficiency|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
	rs541517496	Pathogenic/Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs545215807	LP/P	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
	rs547918064	-	-
	rs547918064	Likely pathogenic	not provided|Isolated microphthalmia 8 [MedGen:C3661900|MONDO:MONDO:0014050,MedGen:C3554524,OMIM:615113,Orphanet:2542]
	rs550705310	-	-
	rs56251804	-	-
	rs574370650	-	-
	rs577954688	-	-
	rs74315293	-	-
	rs74315293	Pathogenic	Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, myopathic form|not provided|Carnitine palmitoyl transferase II deficiency, neonatal form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302|MedGen:C3661900|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308]; Carnitine palmitoyl transferase II deficiency, myopathic form [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302]; Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]; Encephalopathy, acute, infection-induced, susceptibility to, 4|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
	rs74315294	-	-
	rs74315294	Pathogenic/Likely pathogenic	Carnitine palmitoyl transferase II deficiency, myopathic form|not provided|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, neonatal form [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302|MedGen:C3661900|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308]; Carnitine palmitoyl transferase II deficiency, myopathic form [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302]; Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]; Encephalopathy, acute, infection-induced, susceptibility to, 4|Carnitine palmitoyl transferase II deficiency, severe infantile form|Inborn genetic diseases|Rhabdomyolysis|Carnitine palmitoyl transferase II deficiency, neonatal form [MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MeSH:D030342,MedGen:C0950123|Human Phenotype Ontology:HP:0003201,MedGen:C0035410|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308]; Carnitine palmitoyl transferase II deficiency, severe infantile form|Abnormality of the musculature|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
	rs74315295	-	-
	rs74315295	Pathogenic/Likely pathogenic	Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, neonatal form|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]; Carnitine palmitoyl transferase II deficiency, neonatal form [MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308]; Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]; Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, neonatal form [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308]; Carnitine palmitoyl transferase II deficiency, severe infantile form|Seizure [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:HP:0002279,Human Phenotype Ontology:HP:0002306,Human Phenotype Ontology:HP:0002348,Human Phenotype Ontology:HP:0002391,Human Phenotype Ontology:HP:0002417,Human Phenotype Ontology:HP:0002430,Human Phenotype Ontology:HP:0002431,Human Phenotype Ontology:HP:0002432,Human Phenotype Ontology:HP:0002434,Human Phenotype Ontology:HP:0002437,Human Phenotype Ontology:HP:0002466,Human Phenotype Ontology:HP:0002479,Human Phenotype Ontology:HP:0002794,Human Phenotype Ontology:HP:0006997,Human Phenotype Ontology:HP:0010520,MedGen:C0036572]; Abnormality of the nervous system|Encephalopathy, acute, infection-induced, susceptibility to, 4 [Human Phenotype Ontology:HP:0000707,Human Phenotype Ontology:HP:0001333,Human Phenotype Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
	rs74315300	Pathogenic	Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
	rs74428123	-	-
	rs74451421	-	-
	rs745423719	-	-
	rs745844469	Likely pathogenic	Medium-chain acyl-coenzyme A dehydrogenase deficiency [MONDO:MONDO:0008721,MedGen:C0220710,OMIM:201450,Orphanet:42]
	rs747209153	-	-
	rs748303093	Pathogenic/Likely pathogenic	not provided|Deficiency of acetyl-CoA acetyltransferase [MedGen:C3661900|MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs750195919	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs750389182	-	-
	rs751557097	-	-
	rs751557097	Pathogenic/Likely pathogenic	Carnitine palmitoyltransferase II deficiency|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
	rs752737849	-	-
	rs753816946	-	-
	rs754386565	Pathogenic/Likely pathogenic	Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, severe infantile form|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]; Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]; Carnitine palmitoyl transferase II deficiency, myopathic form [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302]; Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyltransferase II deficiency|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
	rs755331246	-	-
	rs756168037	-	-
	rs756326862	-	-
	rs756414686	-	-
	rs756931329	Pathogenic/Likely pathogenic	Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]; Carnitine palmitoyl transferase II deficiency, myopathic form [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302]; Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]; Carnitine palmitoyl transferase II deficiency, neonatal form|not provided|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308|MedGen:C3661900|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
	rs758723288	Likely pathogenic	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided|ECHS1-related condition [MONDO:MONDO:0014563,MedGen:C4225391,OMIM:616277,Orphanet:255241|MedGen:C3661900|]
	rs75967634	-	-
	rs761042153	-	-
	rs761282960	Pathogenic	Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs761295869	Likely pathogenic	Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs761438840	Likely pathogenic	Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]
	rs763392896	-	-
	rs768448235	-	-
	rs768697532	-	-
	rs769763635	-	-
	rs771214714	Likely pathogenic	Carnitine palmitoyl transferase II deficiency, neonatal form [MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308]
	rs772087249	-	-
	rs773491386	Pathogenic	Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
	rs773503933	-	-
	rs773677327	Pathogenic/Likely pathogenic	Medium-chain acyl-coenzyme A dehydrogenase deficiency|not provided [MONDO:MONDO:0008721,MedGen:C0220710,OMIM:201450,Orphanet:42|MedGen:C3661900]
	rs773966429	-	-
	rs774716484	LP/P	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
	rs776421832	-	-
	rs778743524	Pathogenic	Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
	rs779135938	Likely pathogenic	Deficiency of 3-hydroxyacyl-CoA dehydrogenase|Hyperinsulinemic hypoglycemia|Hyperinsulinemic hypoglycemia, familial, 4 [MONDO:MONDO:0017715,MedGen:C1291230,OMIM:231530,Orphanet:309127,Orphanet:71212|Human Phenotype Ontology:HP:0000825,MONDO:MONDO:0005803,MedGen:C1864903,OMIM:PS256450,Orphanet:443095|MONDO:MONDO:0012382,MedGen:C1864948,OMIM:609975,Orphanet:71212]
	rs780940242	-	-
	rs781507152	-	-
	rs796052271	Pathogenic	not provided|Pyridoxine-dependent epilepsy [MedGen:C3661900|MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs864622558	Pathogenic	Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
	rs875989867	Pathogenic	Medium-chain acyl-coenzyme A dehydrogenase deficiency [MONDO:MONDO:0008721,MedGen:C0220710,OMIM:201450,Orphanet:42]
	rs886037927	Likely pathogenic	HSD10 mitochondrial disease [MONDO:MONDO:0010327,MedGen:C3266731,OMIM:300438,Orphanet:391417,Orphanet:85295]
hsa00100		Steroid biosynthesis
dbSNP		Type	Disease name
	-	Likely pathogenic	Perrault syndrome [MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855]; Bifunctional peroxisomal enzyme deficiency [MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Orphanet:300]
	.	-	-
	rs1202368985	-	-
	rs1222153452	-	-
	rs1249530918	LP/P	Hypotrichosis 14 (HYPT14) [MIM:618275]
	rs1274851618	-	-
	rs1291406206	-	-
	rs13222	Pathogenic	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency [Gene:6994,MONDO:MONDO:0013664,MedGen:C1839840,OMIM:614279,Orphanet:443087]
	rs138675307	-	-
	rs138781417	-	-
	rs139230476	-	-
	rs1392361503	Pathogenic	Perrault syndrome [MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855]; Bifunctional peroxisomal enzyme deficiency [MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Orphanet:300]
	rs144457204	-	-
	rs148197561	-	-
	rs149295644	-	-
	rs150090274	-	-
	rs1561442127	Likely pathogenic	Perrault syndrome [MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855]; Bifunctional peroxisomal enzyme deficiency [MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Orphanet:300]
	rs1564317029	-	-
	rs17134592	-	-
	rs1749878115	Pathogenic/Likely pathogenic	Perrault syndrome 1|Bifunctional peroxisomal enzyme deficiency [MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400,Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Orphanet:300]; Perrault syndrome|Bifunctional peroxisomal enzyme deficiency [MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Orphanet:300]
	rs1810791017	Likely pathogenic	Squalene synthase deficiency [MONDO:MONDO:0032566,MedGen:C4748427,OMIM:618156]
	rs200217031	-	-
	rs200908381	-	-
	rs201022112	-	-
	rs370245703	-	-
	rs370433029	-	-
	rs371623501	-	-
	rs374810645	-	-
	rs376669118	-	-
	rs4731	LB/B	-
	rs542597307	-	-
	rs550705310	-	-
	rs570650527	-	-
	rs746780985	-	-
	rs749461746	-	-
	rs749485571	-	-
	rs751451775	-	-
	rs754529217	-	-
	rs758856613	-	-
	rs763857057	-	-
	rs764164796	-	-
	rs765961879	-	-
	rs768550964	-	-
	rs772780687	-	-
	rs778046889	-	-
	rs779490029	-	-
	rs781200594	-	-
	rs782266548	-	-
	rs782328441	-	-
	rs782421321	-	-
	rs80133417	-	-
	rs864622780	LP/P	Cataract 44 (CTRCT44) [MIM:616509]
	rs887438250	-	-
	rs904011	-	-
hsa00120		Primary bile acid biosynthesis
dbSNP		Type	Disease name
	-	Likely pathogenic	Perrault syndrome [MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855]; Bifunctional peroxisomal enzyme deficiency [MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Orphanet:300]
	.	-	-
	rs104886492	US	HSD10 mitochondrial disease (HSD10MD) [MIM:300438]
	rs1049568	-	-
	rs1057909	LB/B	-
	rs1057910	LB/B	-
	rs112441786	-	-
	rs117111102	-	-
	rs1202368985	-	-
	rs1228918719	-	-
	rs1228918719	LP/P	Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
	rs1236669456	Pathogenic	Congenital bile acid synthesis defect 2 [MONDO:MONDO:0009339,MedGen:C1856127,OMIM:235555,Orphanet:79303]
	rs12414460	-	-
	rs1278639064	-	-
	rs13222	Pathogenic	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency [Gene:6994,MONDO:MONDO:0013664,MedGen:C1839840,OMIM:614279,Orphanet:443087]
	rs1363857729	-	-
	rs137853096	LP/P	D-bifunctional protein deficiency (DBPD) [MIM:261515]
	rs137853101	LP/P	3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
	rs137853102	LP/P	3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
	rs138112316	-	-
	rs138675307	-	-
	rs1392361503	Pathogenic	Perrault syndrome [MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855]; Bifunctional peroxisomal enzyme deficiency [MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Orphanet:300]
	rs140387106	-	-
	rs141489852	-	-
	rs147168294	-	-
	rs1486164573	-	-
	rs149033118	-	-
	rs149295644	-	-
	rs1561442127	Likely pathogenic	Perrault syndrome [MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855]; Bifunctional peroxisomal enzyme deficiency [MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Orphanet:300]
	rs1564317029	-	-
	rs17884712	-	-
	rs1799853	LB/B	-
	rs192154563	-	-
	rs200183364	-	-
	rs200346442	-	-
	rs200569884	-	-
	rs200908381	-	-
	rs200965026	-	-
	rs201296209	-	-
	rs201702426	-	-
	rs202093592	-	-
	rs2296681	-	-
	rs28371686	LB/B	-
	rs368767518	-	-
	rs370245703	-	-
	rs375253960	-	-
	rs41286884	-	-
	rs4986893	-	-
	rs543931018	-	-
	rs545752791	-	-
	rs550705310	-	-
	rs556081405	-	-
	rs56165452	LB/B	-
	rs566644923	-	-
	rs577954688	-	-
	rs72552267	-	-
	rs72558191	Pathogenic	Warfarin response [MONDO:MONDO:0007390,MedGen:C0750384,OMIM:122700]
	rs72558192	-	-
	rs74428123	-	-
	rs749485571	-	-
	rs753270728	-	-
	rs763463911	-	-
	rs763625282	-	-
	rs764272389	-	-
	rs765456449	-	-
	rs774997677	-	-
	rs776806726	-	-
	rs776908257	-	-
	rs776965057	-	-
	rs777237591	-	-
	rs779135938	Likely pathogenic	Deficiency of 3-hydroxyacyl-CoA dehydrogenase|Hyperinsulinemic hypoglycemia|Hyperinsulinemic hypoglycemia, familial, 4 [MONDO:MONDO:0017715,MedGen:C1291230,OMIM:231530,Orphanet:309127,Orphanet:71212|Human Phenotype Ontology:HP:0000825,MONDO:MONDO:0005803,MedGen:C1864903,OMIM:PS256450,Orphanet:443095|MONDO:MONDO:0012382,MedGen:C1864948,OMIM:609975,Orphanet:71212]
	rs779634821	-	-
	rs781200594	-	-
	rs781583846	-	-
	rs782266548	-	-
	rs782328441	-	-
	rs79500998	-	-
	rs866346652	-	-
	rs886037927	Likely pathogenic	HSD10 mitochondrial disease [MONDO:MONDO:0010327,MedGen:C3266731,OMIM:300438,Orphanet:391417,Orphanet:85295]
	rs889353794	-	-
hsa00130		Ubiquinone and other terpenoid-quinone biosynthesis
dbSNP		Type	Disease name
	-	Pathogenic	Tyrosinemia type II [MONDO:MONDO:0010160,MedGen:C0268487,OMIM:276600,Orphanet:28378]
	-	LP/P	Tyrosinemia 3 (TYRSN3) [MIM:276710]
	.	-	-
	rs118203916	Pathogenic	Tyrosinemia type II [MONDO:MONDO:0010160,MedGen:C0268487,OMIM:276600,Orphanet:28378]
	rs1276998235	Pathogenic	Hawkinsinuria [Human Phenotype Ontology:HP:0034457,MONDO:MONDO:0007700,MedGen:C2931042,OMIM:140350,Orphanet:2118]
	rs137852865	LP/P	Tyrosinemia 3 (TYRSN3) [MIM:276710]
	rs149180825	-	-
	rs181309650	-	-
	rs2044180572	Pathogenic	Tyrosinemia type II [MONDO:MONDO:0010160,MedGen:C0268487,OMIM:276600,Orphanet:28378]
	rs367674632	Pathogenic/Likely pathogenic	Hawkinsinuria [Human Phenotype Ontology:HP:0034457,MONDO:MONDO:0007700,MedGen:C2931042,OMIM:140350,Orphanet:2118]; Tyrosinemia type III|Tyrosinemia type III|not provided [MONDO:MONDO:0010162,MedGen:C0268623,OMIM:276710,Orphanet:69723|MONDO:MONDO:0010162,MedGen:C0268623,OMIM:276710,Orphanet:69723|MedGen:C3661900]
	rs761817519	Pathogenic/Likely pathogenic	Tyrosinemia type II [MONDO:MONDO:0010160,MedGen:C0268487,OMIM:276600,Orphanet:28378]
	rs768158086	-	-
	rs984792300	-	-
hsa00140		Steroid hormone biosynthesis
dbSNP		Type	Disease name
	-	LP/P	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	-	Likely pathogenic	Deficiency of steroid 17-alpha-monooxygenase [MONDO:MONDO:0008730,MedGen:C0268285,OMIM:202110,Orphanet:90793]
	-	US	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
	-	Likely pathogenic	X-linked ichthyosis with steryl-sulfatase deficiency [MONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100,Orphanet:461]
	-	Likely pathogenic	Anterior segment dysgenesis 6 [MONDO:MONDO:0015016,MedGen:C4310623,OMIM:617315]
	-	Likely pathogenic	Anterior segment dysgenesis [Human Phenotype Ontology:HP:0007696,Human Phenotype Ontology:HP:0007699,Human Phenotype Ontology:HP:0007700,Human Phenotype Ontology:HP:0008040,MONDO:MONDO:0019503,MedGen:C1862839,OMIM:PS107250,Orphanet:88632]
	-	Likely pathogenic	Perrault syndrome [MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855]; Bifunctional peroxisomal enzyme deficiency [MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Orphanet:300]
	.	-	-
	rs1013330593	-	-
	rs104893628	LP/P	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
	rs104894061	Pathogenic	Deficiency of steroid 11-beta-monooxygenase|not provided|Glucocorticoid-remediable aldosteronism [MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795|MedGen:C3661900|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900,Orphanet:403]; Deficiency of steroid 11-beta-monooxygenase [MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795]
	rs104894062	Likely pathogenic	Deficiency of steroid 11-beta-monooxygenase|not provided [MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795|MedGen:C3661900]
	rs104894066	Pathogenic	Deficiency of steroid 11-beta-monooxygenase [MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795]
	rs104894068	Pathogenic/Likely pathogenic	Deficiency of steroid 11-beta-monooxygenase|Glucocorticoid-remediable aldosteronism|not provided|Glucocorticoid-remediable aldosteronism [MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900,Orphanet:403|MedGen:C3661900|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900,Orphanet:403]; Deficiency of steroid 11-beta-monooxygenase [MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795]
	rs104894135	LP/P	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	rs104894136	Pathogenic	17-alpha-hydroxylase/17,20-lyase deficiency, combined partial|Breast cancer, susceptibility to|Deficiency of steroid 17-alpha-monooxygenase|not provided [MONDO:MONDO:0800380,MedGen:C4017190|MedGen:C3469522|MONDO:MONDO:0008730,MedGen:C0268285,OMIM:202110,Orphanet:90793|MedGen:C3661900]
	rs104894138	LP/P	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	rs104894139	LP/P	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	rs104894140	LP/P	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	rs104894142	LP/P	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	rs104894146	LP/P	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	rs104894147	LP/P	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	rs104894149	-	-
	rs104894149	LP/P	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	rs104894150	-	-
	rs104894153	LP/P	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	rs104894154	Pathogenic	17-alpha-hydroxylase/17,20-lyase deficiency, combined complete|Deficiency of steroid 17-alpha-monooxygenase|not provided [MONDO:MONDO:0800379,MedGen:CN042980|MONDO:MONDO:0008730,MedGen:C0268285,OMIM:202110,Orphanet:90793|MedGen:C3661900]
	rs104894979	Likely pathogenic	Glaucoma 3A|Anterior segment dysgenesis 6 [MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977|MONDO:MONDO:0015016,MedGen:C4310623,OMIM:617315]
	rs1057517829	LP/P	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
	rs1060499582	Pathogenic	Deficiency of steroid 17-alpha-monooxygenase|not provided [MONDO:MONDO:0008730,MedGen:C0268285,OMIM:202110,Orphanet:90793|MedGen:C3661900]
	rs11569705	LB/B	-
	rs1166405013	-	-
	rs1173000590	Pathogenic	not provided|Deficiency of steroid 17-alpha-monooxygenase [MedGen:C3661900|MONDO:MONDO:0008730,MedGen:C0268285,OMIM:202110,Orphanet:90793]
	rs1200476864	-	-
	rs1202368985	-	-
	rs121434244	LP/P	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
	rs121434245	LP/P	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
	rs121434246	LP/P	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
	rs121434249	LP/P	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
	rs121434250	LP/P	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
	rs121434251	LP/P	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
	rs121434252	LP/P	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
	rs121434253	LP/P	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
	rs121434534	LP/P	Aromatase deficiency (AROD) [MIM:613546]
	rs121434536	LP/P	Aromatase deficiency (AROD) [MIM:613546]
	rs121912978	LP/P	Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) [MIM:610600]
	rs121912978	Pathogenic	Corticosterone methyloxidase type 2 deficiency|not provided|Corticosterone methyl oxidase type II deficiency|Corticosterone 18-monooxygenase deficiency [MONDO:MONDO:0012524,MedGen:C3463917,OMIM:610600,Orphanet:427|MedGen:C3661900||MONDO:MONDO:0008751,MedGen:C0268293,OMIM:203400,Orphanet:427]; Corticosterone methyloxidase type 2 deficiency [MONDO:MONDO:0012524,MedGen:C3463917,OMIM:610600,Orphanet:427]
	rs1221010438	Pathogenic	not provided|Deficiency of steroid 11-beta-monooxygenase [MedGen:C3661900|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795]
	rs1228918719	-	-
	rs1228918719	LP/P	Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
	rs1236669456	Pathogenic	Congenital bile acid synthesis defect 2 [MONDO:MONDO:0009339,MedGen:C1856127,OMIM:235555,Orphanet:79303]
	rs1245981952	-	-
	rs1257727040	-	-
	rs12721627	LB/B	-
	rs12721629	LB/B	-
	rs1280898306	-	-
	rs1281169684	-	-
	rs1309748501	-	-
	rs1315777461	Likely pathogenic	Congenital bile acid synthesis defect 2 [MONDO:MONDO:0009339,MedGen:C1856127,OMIM:235555,Orphanet:79303]
	rs13222	LP/P	46,XY sex reversal 8 (SRXY8) [MIM:614279]
	rs13306279	-	-
	rs1331249320	LP/P	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
	rs1347586947	-	-
	rs1351295710	Likely pathogenic	Corticosterone 18-monooxygenase deficiency|CYP11B2-related disorder|not provided [MONDO:MONDO:0008751,MedGen:C0268293,OMIM:203400,Orphanet:427||MedGen:C3661900]
	rs137853165	LP/P	Ichthyosis, X-linked (IXL) [MIM:308100]
	rs137853166	LP/P	Ichthyosis, X-linked (IXL) [MIM:308100]
	rs137853167	LP/P	Ichthyosis, X-linked (IXL) [MIM:308100]
	rs137853168	LP/P	Ichthyosis, X-linked (IXL) [MIM:308100]
	rs138105638	-	-
	rs138675307	-	-
	rs1392361503	Pathogenic	Perrault syndrome [MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855]; Bifunctional peroxisomal enzyme deficiency [MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Orphanet:300]
	rs139250712	-	-
	rs1392720513	-	-
	rs1405313151	-	-
	rs1423560123	LP/P	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	rs142529153	-	-
	rs1430256295	-	-
	rs144457204	-	-
	rs1447069098	Pathogenic	not provided|Congenital adrenal hyperplasia|Deficiency of steroid 11-beta-monooxygenase [MedGen:C3661900|Human Phenotype Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627,Orphanet:418|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795]; Glucocorticoid-remediable aldosteronism [MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900,Orphanet:403]
	rs145669559	-	-
	rs145774441	-	-
	rs146655862	-	-
	rs147402365	LB/B	-
	rs1477251308	-	-
	rs148542782	LP/P	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
	rs149081683	-	-
	rs149295644	-	-
	rs149881706	Pathogenic/Likely pathogenic	Deficiency of steroid 11-beta-monooxygenase|not provided [MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795|MedGen:C3661900]
	rs1554652998	Pathogenic	Deficiency of steroid 11-beta-monooxygenase|not provided [MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795|MedGen:CN517202]
	rs1554652999	Pathogenic	Deficiency of steroid 11-beta-monooxygenase [MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795]
	rs1554653675	Pathogenic/Likely pathogenic	Deficiency of steroid 11-beta-monooxygenase|not provided [MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795|MedGen:C3661900]
	rs1558201263	-	-
	rs1558603396	Likely pathogenic	Glaucoma 3A|Anterior segment dysgenesis 6 [MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977|MONDO:MONDO:0015016,MedGen:C4310623,OMIM:617315]
	rs1561442127	Likely pathogenic	Perrault syndrome [MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855]; Bifunctional peroxisomal enzyme deficiency [MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Orphanet:300]
	rs1564317029	-	-
	rs17134592	-	-
	rs1749878115	Pathogenic/Likely pathogenic	Perrault syndrome 1|Bifunctional peroxisomal enzyme deficiency [MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400,Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Orphanet:300]; Perrault syndrome|Bifunctional peroxisomal enzyme deficiency [MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Orphanet:300]
	rs1815413655	LP/P	Vitamin D-dependent rickets 3 (VDDR3) [MIM:619073]
	rs1816901292	Likely pathogenic	not provided|Deficiency of steroid 11-beta-monooxygenase [MedGen:C3661900|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795]
	rs1817612031	Pathogenic/Likely pathogenic	not provided|Corticosterone 18-monooxygenase deficiency [MedGen:C3661900|MONDO:MONDO:0008751,MedGen:C0268293,OMIM:203400,Orphanet:427]; Corticosterone methyloxidase type 2 deficiency [MONDO:MONDO:0012524,MedGen:C3463917,OMIM:610600,Orphanet:427]
	rs181764014	-	-
	rs182820353	-	-
	rs182820353	Likely pathogenic	Congenital bile acid synthesis defect 2 [MONDO:MONDO:0009339,MedGen:C1856127,OMIM:235555,Orphanet:79303]
	rs190776413	-	-
	rs199558694	-	-
	rs199710929	-	-
	rs200004457	-	-
	rs200635241	-	-
	rs200730776	-	-
	rs200908381	-	-
	rs201225516	-	-
	rs201286895	-	-
	rs201526062	-	-
	rs201702426	-	-
	rs201848142	-	-
	rs2125316074	Pathogenic/Likely pathogenic	Glaucoma 3A|Primary congenital glaucoma [MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977|Human Phenotype Ontology:HP:0008007,MONDO:MONDO:0000365,MedGen:C1533041]
	rs2134082367	Pathogenic	not provided|Deficiency of steroid 17-alpha-monooxygenase [MedGen:C3661900|MONDO:MONDO:0008730,MedGen:C0268285,OMIM:202110,Orphanet:90793]
	rs2141079375	Pathogenic	not provided|Aromatase deficiency [MedGen:C3661900|MONDO:MONDO:0013301,MedGen:C1960539,OMIM:613546,Orphanet:91]
	rs267606755	Pathogenic/Likely pathogenic	Deficiency of steroid 11-beta-monooxygenase|CYP11B1-related condition|not provided [MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795||MedGen:C3661900]
	rs28371759	LB/B	-
	rs28383048	LB/B	-
	rs28383477	-	-
	rs2854482	LB/B	-
	rs28934586	Pathogenic/Likely pathogenic	Deficiency of steroid 11-beta-monooxygenase|not provided|Glucocorticoid-remediable aldosteronism|Glucocorticoid-remediable aldosteronism [MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795|MedGen:C3661900|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900,Orphanet:403|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900,Orphanet:403]; Deficiency of steroid 11-beta-monooxygenase [MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795]
	rs28936701	LP/P	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
	rs28936701	Pathogenic	Glaucoma 3A|not provided|Congenital glaucoma|Primary congenital glaucoma|Anterior segment dysgenesis 6 [MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977|MedGen:C3661900|MONDO:MONDO:0020366,MedGen:C0020302|Human Phenotype Ontology:HP:0008007,MONDO:MONDO:0000365,MedGen:C1533041|MONDO:MONDO:0015016,MedGen:C4310623,OMIM:617315]
	rs3208363	LB/B	-
	rs367634557	Pathogenic/Likely pathogenic	Deficiency of steroid 11-beta-monooxygenase|not provided [MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795|MedGen:C3661900]
	rs367833709	Likely pathogenic	not provided|Deficiency of steroid 17-alpha-monooxygenase [MedGen:C3661900|MONDO:MONDO:0008730,MedGen:C0268285,OMIM:202110,Orphanet:90793]
	rs368386747	LP/P	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
	rs370245703	-	-
	rs370433029	-	-
	rs371825363	Likely pathogenic	not provided|Deficiency of steroid 17-alpha-monooxygenase [MedGen:C3661900|MONDO:MONDO:0008730,MedGen:C0268285,OMIM:202110,Orphanet:90793]
	rs373611092	-	-
	rs374810645	-	-
	rs374926260	-	-
	rs375833424	Pathogenic/Likely pathogenic	Deficiency of steroid 11-beta-monooxygenase|not provided [MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795|MedGen:C3661900]
	rs376074317	-	-
	rs387906751	Pathogenic	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency [Gene:6994,MONDO:MONDO:0013664,MedGen:C1839840,OMIM:614279,Orphanet:443087]
	rs387907572	Pathogenic/Likely pathogenic	Deficiency of steroid 11-beta-monooxygenase|not provided [MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795|MedGen:C3661900]
	rs4539	LB/B	-
	rs4986871	LB/B	-
	rs4986910	LB/B	-
	rs4987161	LB/B	-
	rs5312	LB/B	-
	rs5317	LB/B	-
	rs550705310	-	-
	rs551933154	-	-
	rs55785340	LB/B	-
	rs557905773	-	-
	rs55901263	-	-
	rs55951658	LB/B	-
	rs55989760	LP/P	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
	rs55989760	Pathogenic/Likely pathogenic	Glaucoma 3A|Primary congenital glaucoma|not provided|Glaucoma of childhood|Anterior segment dysgenesis 6|Congenital glaucoma|Glaucoma 3A [MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977|Human Phenotype Ontology:HP:0008007,MONDO:MONDO:0000365,MedGen:C1533041|MedGen:C3661900|Human Phenotype Ontology:HP:0001087,MONDO:MONDO:0020367,MedGen:C2981140,Orphanet:98977|MONDO:MONDO:0015016,MedGen:C4310623,OMIM:617315|MONDO:MONDO:0020366,MedGen:C0020302|MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977]; Glaucoma 3, primary infantile, B [MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975,Orphanet:98976]; Anterior segment dysgenesis 6 [MONDO:MONDO:0015016,MedGen:C4310623,OMIM:617315]
	rs56010818	LP/P	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
	rs56010818	Pathogenic/Likely pathogenic	not provided|Anterior segment dysgenesis 6|Glaucoma 3A|Congenital glaucoma [MedGen:C3661900|MONDO:MONDO:0015016,MedGen:C4310623,OMIM:617315|MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977|MONDO:MONDO:0020366,MedGen:C0020302]
	rs56324128	LB/B	-
	rs575273220	-	-
	rs57865060	LP/P	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
	rs61748122	LB/B	-
	rs61748123	LB/B	-
	rs61748126	LB/B	-
	rs61751139	-	-
	rs61751148	-	-
	rs61752786	Likely pathogenic	Congenital adrenal hyperplasia|Deficiency of steroid 11-beta-monooxygenase|Deficiency of steroid 11-beta-monooxygenase [Human Phenotype Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627,Orphanet:418|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795]; Glucocorticoid-remediable aldosteronism [MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900,Orphanet:403]
	rs61754265	-	-
	rs61754278	LP/P	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	rs62529832	-	-
	rs66583685	LP/P	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
	rs67784355	LB/B	-
	rs72549378	LP/P	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
	rs72552799	LB/B	-
	rs747274803	-	-
	rs749485571	-	-
	rs749574339	-	-
	rs750090886	-	-
	rs750452858	-	-
	rs752456881	LB/B	-
	rs752540777	Pathogenic/Likely pathogenic	not provided|Deficiency of steroid 17-alpha-monooxygenase [MedGen:C3661900|MONDO:MONDO:0008730,MedGen:C0268285,OMIM:202110,Orphanet:90793]
	rs752811843	Pathogenic/Likely pathogenic	not provided|Deficiency of steroid 17-alpha-monooxygenase [MedGen:C3661900|MONDO:MONDO:0008730,MedGen:C0268285,OMIM:202110,Orphanet:90793]
	rs753774484	Pathogenic/Likely pathogenic	not provided|Deficiency of steroid 11-beta-monooxygenase|Congenital adrenal hyperplasia [MedGen:C3661900|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795|Human Phenotype Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627,Orphanet:418]
	rs756271054	-	-
	rs756817759	Pathogenic	Cortisone reductase deficiency 2 [MONDO:MONDO:0013842,MedGen:C3553382,OMIM:614662,Orphanet:168588]
	rs756853742	LP/P	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
	rs757338859	LB/B	-
	rs759118392	-	-
	rs759183694	-	-
	rs760329766	Pathogenic	not provided|Corticosterone 18-monooxygenase deficiency [MedGen:C3661900|MONDO:MONDO:0008751,MedGen:C0268293,OMIM:203400,Orphanet:427]; Corticosterone methyloxidase type 2 deficiency|CYP11B2-related disorder [MONDO:MONDO:0012524,MedGen:C3463917,OMIM:610600,Orphanet:427|]
	rs760695410	-	-
	rs760695410	LP/P	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	rs760880418	Pathogenic/Likely pathogenic	Deficiency of steroid 11-beta-monooxygenase|not provided [MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795|MedGen:C3661900]
	rs762631156	LB/B	-
	rs763329185	-	-
	rs763857057	-	-
	rs764452686	-	-
	rs764598023	Pathogenic/Likely pathogenic	Deficiency of steroid 11-beta-monooxygenase|Deficiency of steroid 11-beta-monooxygenase [MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795]; Glucocorticoid-remediable aldosteronism|not provided [MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900,Orphanet:403|MedGen:C3661900]
	rs765148467	-	-
	rs765921219	Pathogenic/Likely pathogenic	not provided|Corticosterone 18-monooxygenase deficiency [MedGen:C3661900|MONDO:MONDO:0008751,MedGen:C0268293,OMIM:203400,Orphanet:427]; Corticosterone methyloxidase type 2 deficiency [MONDO:MONDO:0012524,MedGen:C3463917,OMIM:610600,Orphanet:427]
	rs766107094	-	-
	rs768550964	-	-
	rs770247815	Pathogenic/Likely pathogenic	Congenital bile acid synthesis defect 2 [MONDO:MONDO:0009339,MedGen:C1856127,OMIM:235555,Orphanet:79303]
	rs772283403	LP/P	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
	rs772780687	-	-
	rs772897551	LB/B	-
	rs774168721	-	-
	rs775030275	LB/B	-
	rs775479837	Pathogenic	not provided|Congenital adrenal hyperplasia|Deficiency of steroid 11-beta-monooxygenase [MedGen:C3661900|Human Phenotype Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627,Orphanet:418|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795]
	rs776567184	-	-
	rs777638364	LP/P	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	rs777678299	-	-
	rs779103938	Pathogenic/Likely pathogenic	not provided|Deficiency of steroid 11-beta-monooxygenase|Deficiency of steroid 11-beta-monooxygenase [MedGen:C3661900|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795]; Glucocorticoid-remediable aldosteronism [MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900,Orphanet:403]
	rs779490029	-	-
	rs779989195	-	-
	rs780039093	-	-
	rs781200594	-	-
	rs782032018	US	-
	rs782266548	-	-
	rs782328441	-	-
	rs782421321	-	-
	rs782769364	-	-
	rs78310315	LP/P	Aromatase deficiency (AROD) [MIM:613546]
	rs80133417	-	-
	rs866430018	Pathogenic	Deficiency of steroid 11-beta-monooxygenase|not provided [MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795|MedGen:C3661900]
	rs879802265	Pathogenic/Likely pathogenic	not provided|Deficiency of steroid 17-alpha-monooxygenase [MedGen:C3661900|MONDO:MONDO:0008730,MedGen:C0268285,OMIM:202110,Orphanet:90793]
	rs886041121	Likely pathogenic	Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency [MONDO:MONDO:0013400,MedGen:C3151055,OMIM:613743,Orphanet:168558]
	rs887438250	-	-
	rs894320518	-	-
	rs9282670	LB/B	-
	rs9282858	LB/B	-
	rs9332963	LB/B	-
	rs9332964	LP/P	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
	rs9332966	LB/B	-
	rs9332967	LP/P	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
	rs9341250	LB/B	-
	rs942376359	Pathogenic	not provided|Deficiency of steroid 17-alpha-monooxygenase [MedGen:C3661900|MONDO:MONDO:0008730,MedGen:C0268285,OMIM:202110,Orphanet:90793]
	rs943974332	-	-
	rs944452644	Likely pathogenic	Glaucoma 3A|Anterior segment dysgenesis 6 [MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977|MONDO:MONDO:0015016,MedGen:C4310623,OMIM:617315]
hsa00220		Arginine biosynthesis
dbSNP		Type	Disease name
	-	LP/P	Argininemia (ARGIN) [MIM:207800]
	-	Pathogenic	Arginase deficiency [MONDO:MONDO:0008814,MedGen:C0268548,OMIM:207800,Orphanet:90]
	-	LP/P	Citrullinemia 1 (CTLN1) [MIM:215700]
	-	Pathogenic	Citrullinemia|Citrullinemia type I [Human Phenotype Ontology:HP:0032397,MONDO:MONDO:0015991,MedGen:C0175683,Orphanet:187|MONDO:MONDO:0008988,MedGen:C4721769,OMIM:215700,Orphanet:247525]
	-	LP/P	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	-	Likely pathogenic	Congenital hyperammonemia, type I [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147]
	-	Likely pathogenic	Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	-	Likely pathogenic	Ornithine carbamoyltransferase deficiency [MONDO:MONDO:0010703,MedGen:C0268542,OMIM:311250,Orphanet:664]
	-	Likely pathogenic	Pulmonary hypertension, neonatal, susceptibility to [MONDO:MONDO:0014151,MedGen:C3714958,OMIM:615371]
	.	-	-
	rs1048119191	LP/P	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs104893943	LP/P	Argininemia (ARGIN) [MIM:207800]
	rs104893947	-	-
	rs104893947	Pathogenic	Arginase deficiency|not provided [MONDO:MONDO:0008814,MedGen:C0268548,OMIM:207800,Orphanet:90|MedGen:C3661900]
	rs113879010	Pathogenic/Likely pathogenic	not provided|Primary hyperoxaluria, type I [MedGen:C3661900|MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	rs115014558	LB/B	-
	rs1172971002	Pathogenic/Likely pathogenic	Congenital hyperammonemia, type I|Pulmonary hypertension, neonatal, susceptibility to [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147|MONDO:MONDO:0014151,MedGen:C3714958,OMIM:615371]
	rs1176072053	-	-
	rs1202306773	-	-
	rs1202306773	LP/P	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs121908521	Pathogenic	Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
	rs121908528	Pathogenic	Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
	rs121908529	Pathogenic/Likely pathogenic	Primary hyperoxaluria, type I|not provided|Primary hyperoxaluria|AGXT-related condition [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900|MONDO:MONDO:0002474,MedGen:C0020501,OMIM:PS259900,Orphanet:416|]
	rs121908638	LP/P	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs121908645	Pathogenic/Likely pathogenic	Citrullinemia type I|Citrullinemia [MONDO:MONDO:0008988,MedGen:C4721769,OMIM:215700,Orphanet:247525|Human Phenotype Ontology:HP:0032397,MONDO:MONDO:0015991,MedGen:C0175683,Orphanet:187]
	rs121909732	Pathogenic	Hyperinsulinism-hyperammonemia syndrome [MONDO:MONDO:0011717,MedGen:C1847555,OMIM:606762,Orphanet:35878]
	rs121909734	Pathogenic	Hyperinsulinism-hyperammonemia syndrome [MONDO:MONDO:0011717,MedGen:C1847555,OMIM:606762,Orphanet:35878]
	rs121912592	LP/P	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs121912592	Pathogenic/Likely pathogenic	Congenital hyperammonemia, type I|Pulmonary hypertension, neonatal, susceptibility to [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147|MONDO:MONDO:0014151,MedGen:C3714958,OMIM:615371]
	rs121912596	-	-
	rs121912596	Pathogenic	Congenital hyperammonemia, type I|Pulmonary hypertension, neonatal, susceptibility to [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147|MONDO:MONDO:0014151,MedGen:C3714958,OMIM:615371]
	rs1242028775	-	-
	rs1242028775	LP/P	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs1243598920	-	-
	rs1245368879	Pathogenic	Congenital hyperammonemia, type I [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147]
	rs1275599086	LP/P	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs1280211937	LP/P	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs1304689724	Likely pathogenic	Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	rs1305147387	Likely pathogenic	Congenital hyperammonemia, type I [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147]
	rs1319489001	LP/P	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs1326334493	-	-
	rs1327048960	Pathogenic	Congenital hyperammonemia, type I [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147]
	rs1337182136	Pathogenic/Likely pathogenic	Congenital hyperammonemia, type I [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147]
	rs13408961	LB/B	-
	rs1345105436	-	-
	rs1373919219	-	-
	rs1392559810	LP/P	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs1392934477	LP/P	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs140549609	Pathogenic/Likely pathogenic	Arginase deficiency [MONDO:MONDO:0008814,MedGen:C0268548,OMIM:207800,Orphanet:90]
	rs140992177	LB/B	-
	rs1414143303	-	-
	rs1414143303	Pathogenic	Congenital hyperammonemia, type I|Congenital hyperammonemia, type I [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147|MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147]; Pulmonary hypertension, neonatal, susceptibility to|Pulmonary hypertension, neonatal, susceptibility to [MONDO:MONDO:0014151,MedGen:C3714958,OMIM:615371|MONDO:MONDO:0014151,MedGen:C3714958,OMIM:615371]
	rs1471393474	LP/P	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs149518280	LP/P	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs1553509297	LP/P	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs1553511785	Likely pathogenic	Congenital hyperammonemia, type I [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147]
	rs1553512642	LP/P	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs1553513429	LP/P	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs1553516442	LP/P	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs1553516443	LP/P	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs1553518389	Pathogenic/Likely pathogenic	Congenital hyperammonemia, type I [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147]
	rs1558986214	LP/P	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development (CASGID) [MIM:618339]
	rs1559142152	Likely pathogenic	Congenital hyperammonemia, type I [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147]
	rs1574586310	Likely pathogenic	Congenital hyperammonemia, type I [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147]
	rs1574646079	Likely pathogenic	Congenital hyperammonemia, type I [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147]
	rs1698686495	Likely pathogenic	Congenital hyperammonemia, type I [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147]
	rs1698754274	Likely pathogenic	Congenital hyperammonemia, type I [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147]
	rs1698933356	Likely pathogenic	Congenital hyperammonemia, type I [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147]
	rs1700715255	Likely pathogenic	Congenital hyperammonemia, type I [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147]
	rs1700881929	Likely pathogenic	Congenital hyperammonemia, type I [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147]
	rs1701171267	Pathogenic	Congenital hyperammonemia, type I [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147]
	rs1701172643	Likely pathogenic	Congenital hyperammonemia, type I [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147]
	rs1773910245	Likely pathogenic	Arginase deficiency [MONDO:MONDO:0008814,MedGen:C0268548,OMIM:207800,Orphanet:90]
	rs180177155	LP/P	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177156	LP/P	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177156	Pathogenic/Likely pathogenic	Primary hyperoxaluria, type I|not provided|Primary hyperoxaluria [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900|MONDO:MONDO:0002474,MedGen:C0020501,OMIM:PS259900,Orphanet:416]
	rs180177157	-	-
	rs180177157	LP/P	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177161	Pathogenic/Likely pathogenic	Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
	rs180177162	Pathogenic/Likely pathogenic	Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
	rs180177163	Pathogenic	Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	rs180177173	LP/P	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177182	Pathogenic	Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	rs180177186	Pathogenic	Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	rs180177191	-	-
	rs180177191	Pathogenic	Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	rs180177195	Pathogenic/Likely pathogenic	Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
	rs180177197	LP/P	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177198	Pathogenic	Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
	rs180177199	Pathogenic	Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	rs180177202	Pathogenic	Primary hyperoxaluria, type I|Primary hyperoxaluria|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MONDO:MONDO:0002474,MedGen:C0020501,OMIM:PS259900,Orphanet:416|MedGen:C3661900]
	rs180177203	Likely pathogenic	Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
	rs180177208	Pathogenic	Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	rs180177210	Pathogenic	Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
	rs180177211	Pathogenic	Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	rs180177214	Pathogenic	Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	rs180177217	Pathogenic	Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	rs180177225	LP/P	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177243	Pathogenic	Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	rs180177244	LP/P	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177250	Pathogenic	Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	rs180177259	Pathogenic/Likely pathogenic	Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
	rs180177264	LP/P	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177269	Pathogenic	Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	rs180177272	Pathogenic	Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	rs180177277	LP/P	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177279	Pathogenic	Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	rs180177284	Pathogenic	Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	rs180177287	Pathogenic	Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	rs180177288	Pathogenic	Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	rs180177290	-	-
	rs180177290	LP/P	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177292	Likely pathogenic	Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	rs180177303	Pathogenic	Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
	rs1845507027	Pathogenic/Likely pathogenic	Citrullinemia|Citrullinemia type I [Human Phenotype Ontology:HP:0032397,MONDO:MONDO:0015991,MedGen:C0175683,Orphanet:187|MONDO:MONDO:0008988,MedGen:C4721769,OMIM:215700,Orphanet:247525]
	rs201023253	-	-
	rs201071897	-	-
	rs201623252	LB/B	-
	rs201623252	LP/P	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs202107577	Pathogenic/Likely pathogenic	Congenital hyperammonemia, type I|Pulmonary hypertension, neonatal, susceptibility to [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147|MONDO:MONDO:0014151,MedGen:C3714958,OMIM:615371]
	rs202108064	-	-
	rs2058986411	Likely pathogenic	Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	rs2068485732	Pathogenic	Ornithine carbamoyltransferase deficiency [MONDO:MONDO:0010703,MedGen:C0268542,OMIM:311250,Orphanet:664]
	rs2068486155	Pathogenic	Ornithine carbamoyltransferase deficiency [MONDO:MONDO:0010703,MedGen:C0268542,OMIM:311250,Orphanet:664]
	rs2068501518	Likely pathogenic	Ornithine carbamoyltransferase deficiency [MONDO:MONDO:0010703,MedGen:C0268542,OMIM:311250,Orphanet:664]
	rs2105908864	Pathogenic/Likely pathogenic	Congenital hyperammonemia, type I|Congenital hyperammonemia, type I [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147|MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147]; Pulmonary hypertension, neonatal, susceptibility to|Pulmonary hypertension, neonatal, susceptibility to [MONDO:MONDO:0014151,MedGen:C3714958,OMIM:615371|MONDO:MONDO:0014151,MedGen:C3714958,OMIM:615371]
	rs2105922857	Pathogenic	Congenital hyperammonemia, type I [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147]
	rs2105942900	Pathogenic	Congenital hyperammonemia, type I [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147]
	rs2114539596	Pathogenic/Likely pathogenic	Arginase deficiency [MONDO:MONDO:0008814,MedGen:C0268548,OMIM:207800,Orphanet:90]
	rs2124851950	Likely pathogenic	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development [MONDO:MONDO:0032685,MedGen:C5193037,OMIM:618339]
	rs2133777379	Pathogenic	Hyperinsulinism-hyperammonemia syndrome [MONDO:MONDO:0011717,MedGen:C1847555,OMIM:606762,Orphanet:35878]
	rs2147342649	Pathogenic	Ornithine carbamoyltransferase deficiency [MONDO:MONDO:0010703,MedGen:C0268542,OMIM:311250,Orphanet:664]
	rs28940283	LP/P	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs34664134	-	-
	rs34885252	LB/B	-
	rs369061090	LP/P	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs371265106	LP/P	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs372138644	-	-
	rs372399525	-	-
	rs373705613	-	-
	rs4426527	LB/B	-
	rs549085827	Pathogenic/Likely pathogenic	Citrullinemia|Citrullinemia type I [Human Phenotype Ontology:HP:0032397,MONDO:MONDO:0015991,MedGen:C0175683,Orphanet:187|MONDO:MONDO:0008988,MedGen:C4721769,OMIM:215700,Orphanet:247525]
	rs552474817	-	-
	rs61729604	-	-
	rs66550389	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs66626662	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs66642398	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs66867430	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs67156896	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs67284661	Likely pathogenic	not provided|Ornithine carbamoyltransferase deficiency [MedGen:C3661900|MONDO:MONDO:0010703,MedGen:C0268542,OMIM:311250,Orphanet:664]
	rs67418243	Pathogenic	not provided|Ornithine carbamoyltransferase deficiency [MedGen:C3661900|MONDO:MONDO:0010703,MedGen:C0268542,OMIM:311250,Orphanet:664]
	rs67468335	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs67501347	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs67870244	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs67960011	Pathogenic	Ornithine carbamoyltransferase deficiency|not provided [MONDO:MONDO:0010703,MedGen:C0268542,OMIM:311250,Orphanet:664|MedGen:C3661900]
	rs67993095	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs68026851	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72554331	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72554332	Pathogenic	not provided|Ornithine carbamoyltransferase deficiency [MedGen:C3661900|MONDO:MONDO:0010703,MedGen:C0268542,OMIM:311250,Orphanet:664]
	rs72554339	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72554342	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72554344	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72556254	Pathogenic	Ornithine carbamoyltransferase deficiency [MONDO:MONDO:0010703,MedGen:C0268542,OMIM:311250,Orphanet:664]
	rs72556257	Pathogenic	not provided|Ornithine carbamoyltransferase deficiency [MedGen:CN517202|MONDO:MONDO:0010703,MedGen:C0268542,OMIM:311250,Orphanet:664]
	rs72556272	Likely pathogenic	Ornithine carbamoyltransferase deficiency [MONDO:MONDO:0010703,MedGen:C0268542,OMIM:311250,Orphanet:664]
	rs72556274	Likely pathogenic	Ornithine carbamoyltransferase deficiency [MONDO:MONDO:0010703,MedGen:C0268542,OMIM:311250,Orphanet:664]
	rs72556276	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72556300	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72558403	Pathogenic	Ornithine carbamoyltransferase deficiency [MONDO:MONDO:0010703,MedGen:C0268542,OMIM:311250,Orphanet:664]
	rs72558404	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72558406	Pathogenic/Likely pathogenic	not provided|Ornithine carbamoyltransferase deficiency [MedGen:C3661900|MONDO:MONDO:0010703,MedGen:C0268542,OMIM:311250,Orphanet:664]
	rs72558407	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72558442	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72558443	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72558444	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72558448	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72558449	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72558450	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72558463	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72558464	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72558465	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72558478	LP/P	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs73106685	LB/B	-
	rs74205173	-	-
	rs745404241	Pathogenic/Likely pathogenic	Citrullinemia type I|Citrullinemia [MONDO:MONDO:0008988,MedGen:C4721769,OMIM:215700,Orphanet:247525|Human Phenotype Ontology:HP:0032397,MONDO:MONDO:0015991,MedGen:C0175683,Orphanet:187]
	rs747624770	Pathogenic/Likely pathogenic	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome|not provided [MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574,Orphanet:391376|MedGen:C3661900]
	rs749093544	-	-
	rs749568989	-	-
	rs750670270	LP/P	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs750905647	-	-
	rs752339705	-	-
	rs752339705	LP/P	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs754259099	Likely pathogenic	Arginase deficiency [MONDO:MONDO:0008814,MedGen:C0268548,OMIM:207800,Orphanet:90]
	rs756337473	-	-
	rs756337473	Pathogenic	Congenital hyperammonemia, type I [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147]
	rs756437332	Pathogenic	Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	rs757205958	LP/P	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs759201450	Pathogenic/Likely pathogenic	Congenital hyperammonemia, type I [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147]
	rs759836341	-	-
	rs762387914	-	-
	rs762387914	LP/P	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs763887405	-	-
	rs765196603	-	-
	rs765910470	-	-
	rs767377977	-	-
	rs768215008	LP/P	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs769018733	LP/P	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs769085115	-	-
	rs770910923	Likely pathogenic	Ornithine carbamoyltransferase deficiency [MONDO:MONDO:0010703,MedGen:C0268542,OMIM:311250,Orphanet:664]
	rs770944877	LP/P	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs771385956	-	-
	rs771794639	LP/P	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs775163147	LP/P	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs775305020	LP/P	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs777233486	LP/P	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs777828000	LP/P	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs779013628	-	-
	rs779259590	-	-
	rs796052057	Pathogenic	Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	rs796052060	Pathogenic	Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	rs796052061	LP/P	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs796052062	Pathogenic	Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	rs796052063	Pathogenic	Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	rs796052064	Pathogenic/Likely pathogenic	Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
	rs796052065	Pathogenic	Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
	rs80358214	LP/P	Congenital systemic glutamine deficiency (CSGD) [MIM:610015]
	rs886042831	Pathogenic	not provided|Hyperammonemia, type III [MedGen:C3661900|MONDO:MONDO:0009377,MedGen:C0268543,OMIM:237310,Orphanet:927]
	rs933813349	LP/P	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs933813349	Pathogenic/Likely pathogenic	Congenital hyperammonemia, type I|Pulmonary hypertension, neonatal, susceptibility to [MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147|MONDO:MONDO:0014151,MedGen:C3714958,OMIM:615371]
	rs936192871	LP/P	Citrullinemia 1 (CTLN1) [MIM:215700]
hsa00230		Purine metabolism
dbSNP		Type	Disease name
	-	Likely pathogenic	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [MONDO:MONDO:0007064,MedGen:C1863236,OMIM:102700,Orphanet:277]
	-	Likely pathogenic	Pseudohypoparathyroidism type I A [MONDO:MONDO:0007078,MedGen:C3494506,OMIM:103580,Orphanet:79443]
	-	Likely pathogenic	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
	-	LP/P	Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development (MCLMR) [MIM:152950]
	-	Pathogenic	not provided|Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [MedGen:C3661900|MONDO:MONDO:0007918,MedGen:C1835265,OMIM:152950,Orphanet:2526]
	-	Pathogenic	Visceral myopathy 1 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]
	-	Pathogenic	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
	-	Pathogenic	Familial multiple nevi flammei [MONDO:MONDO:0008094,MedGen:C2931029,OMIM:163000,Orphanet:624]
	-	LP/P	Optic atrophy 1 (OPA1) [MIM:165500]
	-	US	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
	-	Likely pathogenic	Retinitis pigmentosa 10 [MONDO:MONDO:0008379,MedGen:C1867299,OMIM:180105,Orphanet:791]
	-	LP/P	Costello syndrome (CSTLO) [MIM:218040]
	-	Likely pathogenic	Cystic fibrosis [MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586]
	-	Likely pathogenic	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]; Developmental malformations-deafness-dystonia syndrome [MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371,Orphanet:79107]
	-	LP/P	Lesch-Nyhan syndrome (LNS) [MIM:300322]
	-	Pathogenic	Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]
	-	LP/P	Hyperuricemia, HPRT-related (HRH) [MIM:300323]
	-	LP/P	Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type (MRXSSB) [MIM:300958]
	-	Likely pathogenic	Intellectual disability, X-linked 102 [MONDO:MONDO:0010497,MedGen:C5393299,OMIM:300958,Orphanet:457260]
	-	Pathogenic	Brody myopathy [MONDO:MONDO:0010977,MedGen:C1832918,OMIM:601003,Orphanet:53347]
	-	LP/P	Noonan syndrome 3 (NS3) [MIM:609942]
	-	Likely pathogenic	Noonan syndrome 3 [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648]
	-	LP/P	Retinitis pigmentosa 33 (RP33) [MIM:610359]
	-	Pathogenic	Aortic aneurysm, familial thoracic 6 [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788]
	-	Pathogenic	Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
	-	US	Spastic paraplegia 45, autosomal recessive (SPG45) [MIM:613162]
	-	Likely pathogenic	Purine-nucleoside phosphorylase deficiency [MONDO:MONDO:0013171,MedGen:C0268125,OMIM:613179,Orphanet:760]
	-	Likely pathogenic	Adenosine kinase deficiency [MONDO:MONDO:0100255,MedGen:C4706555,OMIM:614300,Orphanet:289290,Orphanet:88616]
	-	Likely pathogenic	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 [MONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388,Orphanet:330050]
	-	Likely pathogenic	Complex cortical dysplasia with other brain malformations 4 [MONDO:MONDO:0014171,MedGen:C3809420,OMIM:615412]
	-	Likely pathogenic	Developmental and epileptic encephalopathy, 31 [MONDO:MONDO:0014598,MedGen:C4225357,OMIM:616346,Orphanet:2382]
	-	Likely pathogenic	Childhood Onset VCP-related Neurodevelopmental Disorder|Charcot-Marie-Tooth disease type 2Y [|MONDO:MONDO:0014735,MedGen:C5569026,OMIM:616687,Orphanet:435387]; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320]; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803]
	-	Pathogenic	Intellectual disability, autosomal dominant 48 [MONDO:MONDO:0030913,MedGen:C4540321,OMIM:617751,Orphanet:500159]
	-	LP/P	Noonan syndrome 11 (NS11) [MIM:618499]
	-	Likely pathogenic	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies [MONDO:MONDO:0032820,MedGen:C5231416,OMIM:618577]
	-	Likely pathogenic	Intellectual developmental disorder with or without peripheral neuropathy [MONDO:MONDO:0859240,MedGen:C5676969,OMIM:619844]
	-	LP/P	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities (NEDHISB) [MIM:619854]
	-	Likely pathogenic	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities [MONDO:MONDO:0859243,MedGen:C5676975,OMIM:619854]
	-	Pathogenic	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A [MONDO:MONDO:0957254,MedGen:C5830480,OMIM:620358]
	-	Likely pathogenic	Congenital myopathy [MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245]
	-	Pathogenic	Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
	-	Likely pathogenic	Anemia|Noonan syndrome [Human Phenotype Ontology:HP:0001903,Human Phenotype Ontology:HP:0001926,Human Phenotype Ontology:HP:0003136,Human Phenotype Ontology:HP:0005509,MONDO:MONDO:0002280,MedGen:C0002871|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648]
	.	-	-
	rs1000091588	Pathogenic	Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease|Distal spinal muscular atrophy|Autosomal recessive distal spinal muscular atrophy 1 [MONDO:MONDO:0011436,MedGen:C1858517,OMIM:604320,Orphanet:98920|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739|MONDO:MONDO:0011436,MedGen:C1858517,OMIM:604320,Orphanet:98920]; Charcot-Marie-Tooth disease axonal type 2S [MONDO:MONDO:0014511,MedGen:C4015349,OMIM:616155,Orphanet:443073]
	rs1000661676	-	-
	rs1035500320	-	-
	rs1035500320	Likely pathogenic	Adenylosuccinate lyase deficiency [MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050,Orphanet:46]
	rs1036185928	Pathogenic	not provided|Adenylosuccinate lyase deficiency [MedGen:C3661900|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050,Orphanet:46]
	rs1046009538	-	-
	rs104893631	LP/P	Mitochondrial DNA depletion syndrome 3 (MTDPS3) [MIM:251880]
	rs104893632	LP/P	Mitochondrial DNA depletion syndrome 3 (MTDPS3) [MIM:251880]
	rs104893633	Pathogenic	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [MONDO:MONDO:0009636,MedGen:C5191055,OMIM:251880,Orphanet:279934]
	rs104894003	Pathogenic	Developmental malformations-deafness-dystonia syndrome|Baraitser-Winter syndrome 1|Inborn genetic diseases|not provided|ACTB-related BAFopathy [MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371,Orphanet:79107|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|]
	rs104894028	Pathogenic	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [MONDO:MONDO:0009946,MedGen:C1849507,OMIM:266120,Orphanet:35120]
	rs104894226	LP/P	Costello syndrome (CSTLO) [MIM:218040]
	rs104894226	Pathogenic	Costello syndrome|not provided|Neoplasm of the large intestine|RASopathy|Non-immune hydrops fetalis|Noonan syndrome and Noonan-related syndrome|6 conditions|HRAS-related condition [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MedGen:C3661900|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|Human Phenotype Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|6 conditions|]
	rs104894226	Pathogenic	not provided|Acute myeloid leukemia|Lung adenocarcinoma|Pancreatic adenocarcinoma|Neoplasm of the large intestine|Multiple myeloma|Transitional cell carcinoma of the bladder|Neoplasm of uterine cervix|B-cell chronic lymphocytic leukemia|Hepatocellular carcinoma|Squamous cell lung carcinoma|Squamous cell carcinoma of the skin|Squamous cell carcinoma of the head and neck|Thymoma|Breast neoplasm|Costello syndrome|Gastric adenocarcinoma|Malignant melanoma of skin|Malignant neoplasm of body of uterus|KA-like vemurafenib-induced squamous lesions|Lip and oral cavity carcinoma [MedGen:C3661900|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0100522,MONDO:MONDO:0006456,MeSH:D013945,MedGen:C0040100,Orphanet:99867|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MedGen:C0153574||MONDO:MONDO:0023644,MedGen:C0220641]
	rs104894227	LP/P	Costello syndrome (CSTLO) [MIM:218040]
	rs104894228	LP/P	Schimmelpenning-Feuerstein-Mims syndrome (SFM) [MIM:163200]
	rs104894228	Pathogenic/Likely pathogenic	Linear nevus sebaceous syndrome|Nevus sebaceous|NEVUS SPILUS, SOMATIC|Epidermal nevus|Squamous cell lung carcinoma|Hepatocellular carcinoma|Squamous cell carcinoma of the skin|Lung adenocarcinoma|Neoplasm of uterine cervix|SPITZ NEVUS, SOMATIC|Malignant neoplasm of body of uterus|Pancreatic adenocarcinoma|Malignant melanoma of skin|Gastric adenocarcinoma|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Multiple myeloma|Thyroid tumor|B-cell chronic lymphocytic leukemia|Neoplasm of the large intestine|Breast neoplasm|Acute myeloid leukemia|Lip and oral cavity carcinoma|Non-immune hydrops fetalis|Costello syndrome|Noonan syndrome and Noonan-related syndrome|Epidermolytic nevus|cutaneous-skeletal hypophosphatemia syndrome [Human Phenotype Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612|Human Phenotype Ontology:HP:0010815,MedGen:C3854181||Human Phenotype Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873||MedGen:C0153574|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MONDO:MONDO:0023644,MedGen:C0220641|Human Phenotype Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MONDO:MONDO:0044656,MedGen:C1302848,Orphanet:497737|]
	rs104894228	LP/P	Costello syndrome (CSTLO) [MIM:218040]
	rs104894228	Pathogenic	Costello syndrome|RASopathy|not provided|Lung adenocarcinoma|Multiple myeloma|Thyroid tumor|Breast neoplasm|Squamous cell lung carcinoma|Pancreatic adenocarcinoma|B-cell chronic lymphocytic leukemia|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Malignant neoplasm of body of uterus|Malignant melanoma of skin|Squamous cell carcinoma of the skin|Acute myeloid leukemia|Neoplasm of the large intestine|Neoplasm of uterine cervix|Gastric adenocarcinoma|Neoplasm|Hepatocellular carcinoma|Noonan syndrome|6 conditions|Noonan syndrome and Noonan-related syndrome|HRAS-related condition [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:C3661900|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MedGen:C0153574|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|6 conditions|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|]
	rs104894229	LP/P	Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]
	rs104894229	Pathogenic	Costello syndrome|Myopathy, congenital, with excess of muscle spindles|Epidermal nevus with urothelial cancer, somatic|Nevus sebaceous|not provided|RASopathy|Nasopharyngeal neoplasm|Uterine carcinosarcoma|Malignant neoplasm of body of uterus|Malignant melanoma of skin|Lung adenocarcinoma|Pancreatic adenocarcinoma|Acute myeloid leukemia|Breast neoplasm|Thyroid tumor|Gastric adenocarcinoma|Neoplasm of uterine cervix|Squamous cell carcinoma of the head and neck|Transitional cell carcinoma of the bladder|Prostate adenocarcinoma|Ovarian serous cystadenocarcinoma|Papillary renal cell carcinoma, sporadic|Squamous cell carcinoma of the skin|Myelodysplastic syndrome|Adenoid cystic carcinoma|Glioblastoma|Carcinoma of esophagus|Multiple myeloma|Hepatocellular carcinoma|Neoplasm of the large intestine|Wooly hair nevus|Rhabdomyosarcoma|Lip and oral cavity carcinoma|Inborn genetic diseases|Noonan syndrome and Noonan-related syndrome|Cardiovascular phenotype|See cases|HRAS-related condition|Noonan syndrome 1|Epidermal nevus [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MONDO:MONDO:0800299,MedGen:C1968782|MedGen:C3277679|Human Phenotype Ontology:HP:0010815,MedGen:C3854181|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|Human Phenotype Ontology:HP:0100630,MONDO:MONDO:0005375,MeSH:D009303,MedGen:C0027439|MONDO:MONDO:0006485,MedGen:C0280630|MedGen:C0153574|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0006046,MedGen:C0279663|MeSH:C538614,MedGen:C1336078|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0019311,MedGen:C0343114,Orphanet:79414|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|MONDO:MONDO:0023644,MedGen:C0220641|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MedGen:CN230736|||MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648|Human Phenotype Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414]
	rs104894230	US	Bladder carcinoma
	rs104894230	Pathogenic	Malignant tumor of urinary bladder|Costello syndrome|Myopathy, congenital, with excess of muscle spindles|Epidermal nevus|not provided|Melanoma|Thyroid tumor|Inborn genetic diseases|HRAS-related condition [MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MONDO:MONDO:0800299,MedGen:C1968782|Human Phenotype Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414|MedGen:C3661900|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|MeSH:D030342,MedGen:C0950123|]
	rs104894230	LP/P	Costello syndrome (CSTLO) [MIM:218040]
	rs104894230	Pathogenic	Costello syndrome|not provided|Adenoid cystic carcinoma|Neoplasm of the large intestine|Carcinoma of esophagus|Thyroid tumor|Uterine carcinosarcoma|Papillary renal cell carcinoma, sporadic|Prostate adenocarcinoma|Malignant melanoma of skin|Squamous cell carcinoma of the head and neck|Squamous cell carcinoma of the skin|Breast neoplasm|Acute myeloid leukemia|Malignant neoplasm of body of uterus|Ovarian serous cystadenocarcinoma|Glioblastoma|Transitional cell carcinoma of the bladder|Gastric adenocarcinoma|Neoplasm of uterine cervix|Myelodysplastic syndrome|Nasopharyngeal neoplasm|Multiple myeloma|Lung adenocarcinoma|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Inborn genetic diseases|6 conditions|Rhabdomyosarcoma|Noonan syndrome and Noonan-related syndrome [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MedGen:C3661900|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|MONDO:MONDO:0006485,MedGen:C0280630|MeSH:C538614,MedGen:C1336078|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MedGen:C0153574|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0100630,MONDO:MONDO:0005375,MeSH:D009303,MedGen:C0027439|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MeSH:D030342,MedGen:C0950123|6 conditions|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733]
	rs104894230	Pathogenic/Likely pathogenic	Costello syndrome, severe|Nevus sebaceous|Costello syndrome|RASopathy|not provided|Breast neoplasm|Lip and oral cavity carcinoma|Non-immune hydrops fetalis|Noonan syndrome and Noonan-related syndrome [MedGen:C4016398|Human Phenotype Ontology:HP:0010815,MedGen:C3854181|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:C3661900|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0023644,MedGen:C0220641|Human Phenotype Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733]
	rs104894231	LP/P	Costello syndrome (CSTLO) [MIM:218040]
	rs104894231	Pathogenic/Likely pathogenic	Costello syndrome|Multiple myeloma|Neoplasm of the large intestine|Gastric adenocarcinoma|Acute myeloid leukemia|Neoplasm of uterine cervix|Lung adenocarcinoma [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013]
	rs104894359	LP/P	Noonan syndrome 3 (NS3) [MIM:609942]
	rs104894359	LP/P	Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278]
	rs104894359	Pathogenic	Cardiofaciocutaneous syndrome 2|RASopathy|not provided|Cardio-facio-cutaneous syndrome|Cardio-facio-cutaneous syndrome [MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:C3661900|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340]; Noonan syndrome|Inborn genetic diseases|Noonan syndrome 3 [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648]
	rs104894364	LP/P	Noonan syndrome 3 (NS3) [MIM:609942]
	rs104894364	Pathogenic	Noonan syndrome 3|not provided|Noonan syndrome|RASopathy [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|MedGen:C3661900|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
	rs104894365	LP/P	Noonan syndrome 3 (NS3) [MIM:609942]
	rs104894365	Pathogenic	Noonan syndrome 3|Endometrial carcinoma|RASopathy|not provided|Noonan syndrome|Noonan syndrome [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|Human Phenotype Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:C3661900|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648]; Cardio-facio-cutaneous syndrome|Inborn genetic diseases|Noonan syndrome and Noonan-related syndrome [MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733]
	rs104894366	LP/P	Noonan syndrome 3 (NS3) [MIM:609942]
	rs104894366	LP/P	Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278]
	rs104894366	Pathogenic/Likely pathogenic	Cardiofaciocutaneous syndrome 2|Cardio-facio-cutaneous syndrome [MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340]; Noonan syndrome|not provided|Acute myeloid leukemia [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MedGen:C3661900|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519]; Noonan syndrome 3 [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648]; Cardiofaciocutaneous syndrome 2 [MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340]; Autoimmune lymphoproliferative syndrome type 4|RASopathy [MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
	rs104894366	Pathogenic	Noonan syndrome|RASopathy|not provided|Noonan syndrome 3|Noonan syndrome 1 [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:C3661900|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648]
	rs104894367	Pathogenic	Noonan syndrome 3 [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648]
	rs104894451	LP/P	Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179]
	rs104894452	LP/P	Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179]
	rs104894506	LP/P	Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]
	rs104894508	LP/P	Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]
	rs1057518071	Pathogenic	Baraitser-Winter syndrome 1|not provided [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995|MedGen:C3661900]
	rs1057518493	Likely pathogenic	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
	rs1057519430	LP/P	Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type (MRXSSB) [MIM:300958]
	rs1057519725	LP/P	Oculoectodermal syndrome (OES) [MIM:600268]
	rs1057519742	Pathogenic/Likely pathogenic	Melanoma|Uveal melanoma [Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0007716,MONDO:MONDO:0006486,MeSH:C536494,MedGen:C0220633,OMIM:155720,Orphanet:39044]
	rs1057519874	Likely pathogenic	Malignant neoplasm of body of uterus|Squamous cell carcinoma of the head and neck|Melanoma|Malignant melanoma of skin|Squamous cell carcinoma of the skin [MedGen:C0153574|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723]
	rs1057519948	Likely pathogenic	Malignant neoplasm of body of uterus|Squamous cell carcinoma of the skin|Squamous cell carcinoma of the head and neck|Malignant melanoma of skin [MedGen:C0153574|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779]
	rs1057519951	Likely pathogenic	Breast neoplasm|Lung adenocarcinoma|Gastric adenocarcinoma|Squamous cell carcinoma of the head and neck [Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037]
	rs1064793444	Pathogenic/Likely pathogenic	not provided|ACTB-related BAFopathy|Baraitser-Winter syndrome 1 [MedGen:CN517202||MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
	rs1064794287	Pathogenic/Likely pathogenic	not provided|Actin accumulation myopathy [MedGen:C3661900|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
	rs1064794574	LP/P	Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type (MRXSSB) [MIM:300958]
	rs1064794652	Pathogenic/Likely pathogenic	not provided|Actin accumulation myopathy [MedGen:C3661900|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
	rs1064794680	-	-
	rs1064795334	Pathogenic/Likely pathogenic	not provided|Complex cortical dysplasia with other brain malformations 5 [MedGen:C3661900|MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763]
	rs1064796820	Pathogenic	not provided|Intellectual disability, X-linked 102 [MedGen:CN517202|MONDO:MONDO:0010497,MedGen:C5393299,OMIM:300958,Orphanet:457260]
	rs1064796827	Pathogenic/Likely pathogenic	not provided|Intellectual disability, X-linked 102 [MedGen:C3661900|MONDO:MONDO:0010497,MedGen:C5393299,OMIM:300958,Orphanet:457260]
	rs112445441	LP/P	Oculoectodermal syndrome (OES) [MIM:600268]
	rs1131691341	Likely pathogenic	not provided|Baraitser-Winter syndrome 1 [MedGen:CN517202|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
	rs1131691696	Pathogenic/Likely pathogenic	not provided|Hypomyelinating leukodystrophy 6|Hypomyelinating leukodystrophy 6 [MedGen:C3661900|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]; Torsion dystonia 4 [MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101,Orphanet:98805]
	rs1131691895	Pathogenic/Likely pathogenic	not provided|Complex cortical dysplasia with other brain malformations 1|Brain malformation [MedGen:C3661900|MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570|MedGen:C0266449,Orphanet:199633]; Congenital fibrosis of extraocular muscles [Human Phenotype Ontology:HP:0001491,MONDO:MONDO:0007614,MedGen:C1302995,OMIM:PS135700,Orphanet:45358]
	rs1135401758	Likely pathogenic	Complex cortical dysplasia with other brain malformations 7|not provided [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573|MedGen:CN517202]
	rs1135401776	Pathogenic	Noonan syndrome 3 [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648]
	rs114636410	-	-
	rs11549976	LB/B	-
	rs11554273	Pathogenic	McCune-Albright syndrome|Sex cord-stromal tumor|Cushing syndrome|Neoplasm of the large intestine|Hepatocellular carcinoma|Neoplasm|Lung adenocarcinoma|Neoplasm of uterine cervix|Squamous cell carcinoma of the head and neck|Pancreatic adenocarcinoma|Malignant melanoma of skin|Breast neoplasm|Adrenal cortex carcinoma|Gastric adenocarcinoma|Pituitary adenoma 3, multiple types|not provided [MONDO:MONDO:0018919,MedGen:C0242292,OMIM:174800,Orphanet:562|MONDO:MONDO:0006055,MedGen:C0206724|MONDO:MONDO:0018912,MedGen:C0010481,Orphanet:189427,Orphanet:553|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0054665,MedGen:C4540135,OMIM:617686|MedGen:C3661900]
	rs11554290	Pathogenic	Thyroid cancer, nonmedullary, 2|Epidermal nevus|Non-small cell lung carcinoma|Large congenital melanocytic nevus|Neurocutaneous melanocytosis|Linear nevus sebaceous syndrome|not provided|Adrenal cortex carcinoma|Ovarian serous cystadenocarcinoma|Malignant melanoma of skin|Nasopharyngeal neoplasm|B-cell chronic lymphocytic leukemia|Papillary renal cell carcinoma type 1|Neoplasm of the large intestine|Melanoma|Glioblastoma|Transitional cell carcinoma of the bladder|Neoplasm of brain|Lung adenocarcinoma|Malignant neoplasm of body of uterus|Multiple myeloma|Gastric adenocarcinoma|Hepatocellular carcinoma|Acute myeloid leukemia [MONDO:MONDO:0008566,MedGen:C4225426,OMIM:188470|Human Phenotype Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0005600,Human Phenotype Ontology:HP:0005604,MONDO:MONDO:0044792,MedGen:C1842036,OMIM:137550,Orphanet:626|MONDO:MONDO:0009578,MedGen:C0544862,OMIM:249400,Orphanet:2481|Human Phenotype Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612|MedGen:C3661900|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0100630,MONDO:MONDO:0005375,MeSH:D009303,MedGen:C0027439|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MedGen:C0153574|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519]
	rs11554290	Pathogenic	not provided|Malignant neoplasm of body of uterus|Malignant melanoma of skin|Melanoma|Papillary renal cell carcinoma type 1|Adrenal cortex carcinoma|Multiple myeloma|Gastric adenocarcinoma|Neoplasm of brain|Acute myeloid leukemia|Nasopharyngeal neoplasm|Non-small cell lung carcinoma|Neoplasm of the large intestine|Glioblastoma|Hepatocellular carcinoma|Ovarian serous cystadenocarcinoma|Lung adenocarcinoma|B-cell chronic lymphocytic leukemia|Transitional cell carcinoma of the bladder|Thyroid tumor|Noonan syndrome 6 [MedGen:C3661900|MedGen:C0153574|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100630,MONDO:MONDO:0005375,MeSH:D009303,MedGen:C0027439|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648]
	rs1158027383	-	-
	rs1165052640	Pathogenic/Likely pathogenic	not provided|Familial hemiplegic migraine [MedGen:C3661900|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
	rs1167433865	-	-
	rs1170892326	-	-
	rs1177201180	US	Cystic fibrosis (CF) [MIM:219700]
	rs1178427226	Pathogenic/Likely pathogenic	Autosomal recessive distal spinal muscular atrophy 1 [MONDO:MONDO:0011436,MedGen:C1858517,OMIM:604320,Orphanet:98920]; Charcot-Marie-Tooth disease axonal type 2S|Autosomal recessive distal spinal muscular atrophy 1 [MONDO:MONDO:0014511,MedGen:C4015349,OMIM:616155,Orphanet:443073|MONDO:MONDO:0011436,MedGen:C1858517,OMIM:604320,Orphanet:98920]
	rs1184952683	-	-
	rs1192977984	Likely pathogenic	Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]; Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
	rs1209280928	Likely pathogenic	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [MONDO:MONDO:0007064,MedGen:C1863236,OMIM:102700,Orphanet:277]
	rs121434595	US	Colorectal cancer
	rs121434595	Likely pathogenic	Carcinoma of colon|Large congenital melanocytic nevus|Medulloblastoma|Gastric adenocarcinoma|Transitional cell carcinoma of the bladder|Non-Hodgkin lymphoma|Melanoma|Acute myeloid leukemia|Multiple myeloma|Myelodysplastic syndrome|Neoplasm of the large intestine|Malignant melanoma of skin|Noonan syndrome 6 [MONDO:MONDO:0002032,MedGen:C0699790|Human Phenotype Ontology:HP:0005600,Human Phenotype Ontology:HP:0005604,MONDO:MONDO:0044792,MedGen:C1842036,OMIM:137550,Orphanet:626|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648]
	rs121434596	LP/P	Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]
	rs121434596	Pathogenic/Likely pathogenic	Juvenile myelomonocytic leukemia|Noonan syndrome 6|Autoimmune lymphoproliferative syndrome type 4|not provided|Transitional cell carcinoma of the bladder|Malignant melanoma of skin|Medulloblastoma|Gastric adenocarcinoma|Myelodysplastic syndrome|Melanoma|Multiple myeloma|Neoplasm of the large intestine|Acute myeloid leukemia|Non-Hodgkin lymphoma|Acute megakaryoblastic leukemia in down syndrome [Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834|MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648|MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114|MedGen:CN517202|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|MONDO:MONDO:0020526,MedGen:CN207426,Orphanet:99887]
	rs121908714	-	-
	rs121908714	LP/P	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
	rs121908717	LP/P	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
	rs121908724	LP/P	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
	rs121908725	LP/P	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
	rs121908759	LP/P	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
	rs121908805	Pathogenic	Cystic fibrosis|not provided|Obstructive azoospermia|Cystic fibrosis [MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MedGen:C3661900|Human Phenotype Ontology:HP:0011962,MedGen:C4023106|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586]; Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders|Bronchiectasis with or without elevated sweat chloride 1 [MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180,Orphanet:48||MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400,Orphanet:60033]
	rs121908951	LP/P	Brachyolmia type 4 with mild epiphyseal and metaphyseal changes (BCYM4) [MIM:612847]
	rs121909009	LP/P	Cystic fibrosis (CF) [MIM:219700]
	rs121909033	LP/P	Cystic fibrosis (CF) [MIM:219700]
	rs121909078	LP/P	Charcot-Marie-Tooth disease, axonal, 2B (CMT2B) [MIM:600882]
	rs121909081	LP/P	Charcot-Marie-Tooth disease, axonal, 2B (CMT2B) [MIM:600882]
	rs121909521	Pathogenic	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
	rs121909521	Pathogenic/Likely pathogenic	not provided|Congenital myopathy 2c, severe infantile, autosomal dominant [MedGen:C3661900|MONDO:MONDO:0859523,MedGen:C5830333,OMIM:620278]
	rs121909528	Pathogenic	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
	rs121912734	Pathogenic	Keratosis follicularis [MONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200,Orphanet:218]
	rs121913233	US	Melanoma
	rs121913233	Likely pathogenic	Linear nevus sebaceous syndrome|not provided|Thyroid tumor|Neoplasm|Vascular Tumors Including Pyogenic Granuloma|Noonan syndrome and Noonan-related syndrome|Salivary gland neoplasm [Human Phenotype Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612|MedGen:C3661900|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651||MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|Human Phenotype Ontology:HP:0100684,MONDO:MONDO:0021357,MedGen:C0036095]
	rs121913233	Likely pathogenic	Transitional cell carcinoma of the bladder|Pancreatic adenocarcinoma|Multiple myeloma|B-cell chronic lymphocytic leukemia|Neoplasm|Neoplasm of the large intestine|Acute myeloid leukemia|Malignant neoplasm of body of uterus|Malignant melanoma of skin|Gastric adenocarcinoma|Squamous cell lung carcinoma|Thyroid tumor|Hepatocellular carcinoma|Lung adenocarcinoma [Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MedGen:C0153574|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013]
	rs121913236	Likely pathogenic	Neoplasm of the large intestine|Linear nevus sebaceous syndrome [Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612]
	rs121913236	LP/P	Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278]
	rs121913237	LP/P	Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900]
	rs121913237	Pathogenic/Likely pathogenic	Epidermal nevus|not provided|Juvenile myelomonocytic leukemia|Multiple myeloma|Melanoma|Acute myeloid leukemia|Malignant neoplasm of body of uterus|Myelodysplastic syndrome|Neoplasm of the large intestine|Gastric adenocarcinoma|Non-small cell lung carcinoma|Malignant melanoma of skin|Noonan syndrome 6|Noonan syndrome and Noonan-related syndrome|RASopathy|Autoimmune lymphoproliferative syndrome type 4|NRAS-related condition [Human Phenotype Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414|MedGen:C3661900|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MedGen:C0153574|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114|]
	rs121913237	Pathogenic/Likely pathogenic	Noonan syndrome|not provided|Melanoma|Acute myeloid leukemia|Malignant melanoma of skin|Malignant neoplasm of body of uterus|Neoplasm of the large intestine|Multiple myeloma|Gastric adenocarcinoma|Myelodysplastic syndrome|RASopathy [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MedGen:C3661900|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MedGen:C0153574|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
	rs121913240	US	A colorectal cancer sample
	rs121913240	Pathogenic	Non-small cell lung carcinoma|Medullary thyroid carcinoma|Thyroid tumor|Neoplasm of the large intestine|Multiple myeloma [Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0002865,MONDO:MONDO:0015277,MeSH:C536914,MedGen:C0238462,Orphanet:1332|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443]
	rs121913250	US	Leukemia
	rs121913250	Pathogenic	not provided|Malignant neoplasm of body of uterus|Neoplasm of the large intestine|Multiple myeloma|Acute myeloid leukemia|Non-small cell lung carcinoma|Malignant melanoma of skin|Melanoma|Gastric adenocarcinoma|Myelodysplastic syndrome|Chronic myelogenous leukemia, BCR-ABL1 positive [MedGen:C3661900|MedGen:C0153574|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0005506,Human Phenotype Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521]
	rs121913250	Pathogenic	not provided|Gastric adenocarcinoma|Melanoma|Multiple myeloma|Acute myeloid leukemia|Chronic myelogenous leukemia, BCR-ABL1 positive|Malignant neoplasm of body of uterus|Neoplasm of the large intestine|Myelodysplastic syndrome|Non-small cell lung carcinoma|Malignant melanoma of skin|Increased nuchal translucency|Noonan syndrome 6 [MedGen:C3661900|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0005506,Human Phenotype Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C0153574|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0010880,MedGen:C4023676|MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648]
	rs121913250	Pathogenic	Juvenile myelomonocytic leukemia [Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834]; Noonan syndrome|not provided|Melanoma|Malignant melanoma of skin|Multiple myeloma|Malignant neoplasm of body of uterus|Neoplasm of the large intestine|Gastric adenocarcinoma|Acute myeloid leukemia|Non-small cell lung carcinoma|Myelodysplastic syndrome|RASopathy|Noonan syndrome and Noonan-related syndrome [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MedGen:C3661900|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MedGen:C0153574|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733]
	rs121913255	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma|Acute myeloid leukemia|Melanoma [Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202]
	rs121913492	Pathogenic/Likely pathogenic	Melanoma|Uveal melanoma [Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0007716,MONDO:MONDO:0006486,MeSH:C536494,MedGen:C0220633,OMIM:155720,Orphanet:39044]
	rs121913492	Pathogenic	Melanoma|Abnormal cardiovascular system morphology|Sturge-Weber syndrome [Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0001632,Human Phenotype Ontology:HP:0002564,Human Phenotype Ontology:HP:0002565,Human Phenotype Ontology:HP:0030680,MedGen:C4049796|MONDO:MONDO:0008501,MedGen:C0038505,OMIM:185300,Orphanet:3205]
	rs121913494	Pathogenic	Pituitary adenoma 3, multiple types|McCune-Albright syndrome [MONDO:MONDO:0054665,MedGen:C4540135,OMIM:617686|MONDO:MONDO:0018919,MedGen:C0242292,OMIM:174800,Orphanet:562]
	rs121913495	Pathogenic	McCune-Albright syndrome|Cushing syndrome|Sex cord-stromal tumor|Pancreatic adenocarcinoma|Squamous cell carcinoma of the head and neck|Neoplasm|Gastric adenocarcinoma|Adrenal cortex carcinoma|Hepatocellular carcinoma|Malignant melanoma of skin|Neoplasm of the large intestine|Neoplasm of uterine cervix|Lung adenocarcinoma|Breast neoplasm|Pituitary adenoma 3, multiple types|not provided|Pseudohypoparathyroidism type I A [MONDO:MONDO:0018919,MedGen:C0242292,OMIM:174800,Orphanet:562|MONDO:MONDO:0018912,MedGen:C0010481,Orphanet:189427,Orphanet:553|MONDO:MONDO:0006055,MedGen:C0206724|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0054665,MedGen:C4540135,OMIM:617686|MedGen:C3661900|MONDO:MONDO:0007078,MedGen:C3494506,OMIM:103580,Orphanet:79443]
	rs121913496	Likely pathogenic	Transitional cell carcinoma of the bladder|Neoplasm|Breast neoplasm|Malignant melanoma of skin|Prostate adenocarcinoma|Squamous cell carcinoma of the head and neck|Thyroid tumor|Lung adenocarcinoma|Squamous cell lung carcinoma|Squamous cell carcinoma of the skin|Noonan syndrome 3 [Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648]
	rs121913527	Pathogenic/Likely pathogenic	Neoplasm of the large intestine|Multiple myeloma|Autoimmune lymphoproliferative syndrome type 4|RASopathy [Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
	rs121913527	LP/P	Oculoectodermal syndrome (OES) [MIM:600268]
	rs121913528	LP/P	Gastric cancer (GASC) [MIM:613659]
	rs121913529	US	Colorectal cancer samples
	rs121913529	LP/P	Schimmelpenning-Feuerstein-Mims syndrome (SFM) [MIM:163200]
	rs121913529	Likely pathogenic	Neoplasm of the large intestine|Neoplasm of ovary|Lung adenocarcinoma|Gastrointestinal stromal tumor|Multiple myeloma|not provided|Gallbladder cancer|KRAS-related condition|Non-small cell lung carcinoma [Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MedGen:C3661900|MONDO:MONDO:0005411,MedGen:C0153452||Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131]
	rs121913529	Pathogenic	Carcinoma of pancreas|Epidermal nevus|Nevus sebaceous|Linear nevus sebaceous syndrome|Juvenile myelomonocytic leukemia|Autoimmune lymphoproliferative syndrome type 4|Non-small cell lung carcinoma|Neoplasm of ovary|not provided|Lung carcinoma|Neoplasm of the large intestine|Acute myeloid leukemia|Thyroid tumor|RASopathy|Cerebral arteriovenous malformation|Vascular Tumors Including Pyogenic Granuloma|Primary low grade serous adenocarcinoma of ovary|Capillary malformation-arteriovenous malformation 1|Encephalocraniocutaneous lipomatosis|Gastric cancer|Atypical endometrial hyperplasia [MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:1333,Orphanet:217074|Human Phenotype Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414|Human Phenotype Ontology:HP:0010815,MedGen:C3854181|Human Phenotype Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834|MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MedGen:C3661900|MONDO:MONDO:0005138,MedGen:C0684249|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|Human Phenotype Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724||MedGen:C4302356|MONDO:MONDO:0020783,MedGen:C4747394,OMIM:608354,Orphanet:137667,Orphanet:90307|MONDO:MONDO:0013074,MedGen:C0406612,OMIM:613001,Orphanet:2396|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|MONDO:MONDO:0006096,MedGen:C0349579]; Endometrial hyperplasia without atypia [MONDO:MONDO:0006193,MedGen:C1516855]
	rs121913529	Pathogenic	Carcinoma of pancreas|Nevus sebaceous|Juvenile myelomonocytic leukemia|Non-small cell lung carcinoma|not provided|Thyroid tumor|Neoplasm of ovary|Acute myeloid leukemia|Neoplasm of the large intestine|Cerebral arteriovenous malformation|Chronic myelogenous leukemia, BCR-ABL1 positive|Linear nevus sebaceous syndrome|Lung sarcomatoid carcinoma|RASopathy [MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:1333,Orphanet:217074|Human Phenotype Ontology:HP:0010815,MedGen:C3854181|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|MedGen:C3661900|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724|Human Phenotype Ontology:HP:0005506,Human Phenotype Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|Human Phenotype Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612|MONDO:MONDO:0006279,MedGen:C1708781|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
	rs121913529	LP/P	Gastric cancer (GASC) [MIM:613659]
	rs121913530	US	Lung carcinoma
	rs121913530	Pathogenic/Likely pathogenic	Squamous cell lung carcinoma|Malignant tumor of urinary bladder|Non-small cell lung carcinoma|Thyroid tumor|Neoplasm of ovary|Neoplasm of the large intestine|Adenoid cystic carcinoma|not provided|RASopathy [Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
	rs121913530	LP/P	Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]
	rs121913530	Likely pathogenic	Lung carcinoma|Non-small cell lung carcinoma|Endometrial carcinoma|Thyroid tumor|Neoplasm of ovary|Lung adenocarcinoma|Neoplasm of the large intestine|Gallbladder cancer|not provided|RASopathy [MONDO:MONDO:0005138,MedGen:C0684249|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0005411,MedGen:C0153452|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
	rs121913535	LB/B	-
	rs121913535	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma|Autoimmune lymphoproliferative syndrome type 4|Neoplasm of the large intestine|not provided|KRAS-related disorders [Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MedGen:CN517202|]
	rs121913538	LP/P	Oculoectodermal syndrome (OES) [MIM:600268]
	rs121913538	Pathogenic	OCULOECTODERMAL SYNDROME, SOMATIC|Angiosarcoma|Encephalocraniocutaneous lipomatosis|RASopathy [|Human Phenotype Ontology:HP:0200058,MONDO:MONDO:0016982,MeSH:D006394,MedGen:C0018923,Orphanet:263413|MONDO:MONDO:0013074,MedGen:C0406612,OMIM:613001,Orphanet:2396|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
	rs121917757	Likely pathogenic	Myopathy, congenital, with excess of muscle spindles|Costello syndrome|not provided [MONDO:MONDO:0800299,MedGen:C1968782|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MedGen:C3661900]
	rs121917758	LP/P	Costello syndrome (CSTLO) [MIM:218040]
	rs121917759	LP/P	Costello syndrome (CSTLO) [MIM:218040]
	rs121917759	Likely pathogenic	Costello syndrome|Neoplasm of the large intestine|Acute myeloid leukemia|Gastric adenocarcinoma|Multiple myeloma|Neoplasm of uterine cervix|Lung adenocarcinoma [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013]
	rs121917887	LB/B	-
	rs121918614	Likely pathogenic	Migraine, familial hemiplegic, 2|Familial hemiplegic migraine [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
	rs121918616	Pathogenic/Likely pathogenic	Migraine, familial basilar|not provided|Familial hemiplegic migraine|ATP1A2-RELATED DISORDERS|Migraine, familial hemiplegic, 2 [MedGen:C1865323|MedGen:C3661900|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500||MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]
	rs121918620	Pathogenic/Likely pathogenic	Migraine, familial hemiplegic, 2|Familial hemiplegic migraine|Inborn genetic diseases|not provided [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500|MeSH:D030342,MedGen:C0950123|MedGen:C3661900]
	rs121964852	Pathogenic	Congenital myopathy 4B, autosomal recessive|Congenital myopathy 4A, autosomal dominant|not provided|Congenital myopathy 4B, autosomal recessive [MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284,Orphanet:171433,Orphanet:171439,Orphanet:171881|MONDO:MONDO:0800341,MedGen:CN178536,OMIM:255310|MedGen:C3661900|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284,Orphanet:171433,Orphanet:171439,Orphanet:171881]; Congenital myopathy with fiber type disproportion|See cases [MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020|]
	rs121964854	Pathogenic/Likely pathogenic	Congenital myopathy with fiber type disproportion|not provided|Congenital myopathy 4B, autosomal recessive|Congenital myopathy 4B, autosomal recessive [MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020|MedGen:C3661900|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284,Orphanet:171433,Orphanet:171439,Orphanet:171881|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284,Orphanet:171433,Orphanet:171439,Orphanet:171881]; Congenital myopathy with fiber type disproportion|Congenital myopathy 4A, autosomal dominant [MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020|MONDO:MONDO:0800341,MedGen:CN178536,OMIM:255310]
	rs1221315322	-	-
	rs1229554099	-	-
	rs1235670046	-	-
	rs1244531323	-	-
	rs1246861211	Pathogenic	Non-immune hydrops fetalis [Human Phenotype Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999]
	rs1247270735	-	-
	rs1247497521	Pathogenic/Likely pathogenic	not provided|Purine-nucleoside phosphorylase deficiency [MedGen:C3661900|MONDO:MONDO:0013171,MedGen:C0268125,OMIM:613179,Orphanet:760]
	rs1251962665	-	-
	rs1267396058	Pathogenic	Pseudohypoparathyroidism type I A [MONDO:MONDO:0007078,MedGen:C3494506,OMIM:103580,Orphanet:79443]
	rs1267519974	Likely pathogenic	Intellectual disability, X-linked 102 [MONDO:MONDO:0010497,MedGen:C5393299,OMIM:300958,Orphanet:457260]
	rs1272546759	Likely pathogenic	Pseudopseudohypoparathyroidism [MONDO:MONDO:0012912,MedGen:C0033835,OMIM:612463,Orphanet:79445]
	rs1297642271	-	-
	rs1298336881	-	-
	rs1298799127	-	-
	rs1300241521	-	-
	rs1323796901	-	-
	rs1329985221	-	-
	rs1335558363	Pathogenic	Familial hypocalciuric hypercalcemia 2 [MONDO:MONDO:0007792,MedGen:C1840347,OMIM:145981,Orphanet:101049,Orphanet:405]
	rs1339474843	-	-
	rs1339474843	Likely pathogenic	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
	rs1340115666	-	-
	rs1340227061	-	-
	rs1343080275	-	-
	rs1344826245	Likely pathogenic	Adenine phosphoribosyltransferase deficiency [MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723,Orphanet:976]
	rs1350949739	-	-
	rs1356115868	-	-
	rs1357895717	-	-
	rs1362994447	Likely pathogenic	not provided|Autosomal dominant nonsyndromic hearing loss 20 [MedGen:C3661900|MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]; Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
	rs1363997553	-	-
	rs1364564756	-	-
	rs1372608166	-	-
	rs1376129073	-	-
	rs137852485	LP/P	Hyperuricemia, HPRT-related (HRH) [MIM:300323]
	rs137852487	LP/P	Lesch-Nyhan syndrome (LNS) [MIM:300322]
	rs137852487	Pathogenic	HPRT NEW HAVEN|Lesch-Nyhan syndrome|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [|MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510|MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
	rs137852488	LP/P	Lesch-Nyhan syndrome (LNS) [MIM:300322]
	rs137852489	Pathogenic	Lesch-Nyhan syndrome|Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510|MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]
	rs137852496	LP/P	Lesch-Nyhan syndrome (LNS) [MIM:300322]
	rs137852497	Pathogenic	Lesch-Nyhan syndrome|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510|MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
	rs137852498	LP/P	Hyperuricemia, HPRT-related (HRH) [MIM:300323]
	rs137852504	LP/P	Hyperuricemia, HPRT-related (HRH) [MIM:300323]
	rs137852543	LP/P	Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]
	rs137852545	LP/P	Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]
	rs137853194	Pathogenic	Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
	rs137853226	Pathogenic	Pituitary dependent hypercortisolism [MONDO:MONDO:0009050,MedGen:C0221406,OMIM:219090,Orphanet:96253]
	rs137854533	Pathogenic	Pituitary adenoma 3, multiple types [MONDO:MONDO:0054665,MedGen:C4540135,OMIM:617686]
	rs137915627	-	-
	rs138781159	Pathogenic	Adenine phosphoribosyltransferase deficiency [MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723,Orphanet:976]
	rs138825464	-	-
	rs1388698482	-	-
	rs139190720	-	-
	rs139268034	-	-
	rs139499540	-	-
	rs139573311	Pathogenic	Cystic fibrosis|not provided|Cystic fibrosis [MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MedGen:C3661900|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586]; Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders|Hereditary pancreatitis [MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180,Orphanet:48||MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676]; Cystic fibrosis [MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586]; Bronchiectasis with or without elevated sweat chloride 1 [MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400,Orphanet:60033]; Congenital bilateral aplasia of vas deferens from CFTR mutation|Bronchiectasis with or without elevated sweat chloride 1 [MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180,Orphanet:48|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400,Orphanet:60033]
	rs139689788	-	-
	rs1397449789	-	-
	rs1398420394	Likely pathogenic	Purine-nucleoside phosphorylase deficiency [MONDO:MONDO:0013171,MedGen:C0268125,OMIM:613179,Orphanet:760]
	rs1405334512	-	-
	rs140928408	-	-
	rs1409892710	Pathogenic	Brody myopathy [MONDO:MONDO:0010977,MedGen:C1832918,OMIM:601003,Orphanet:53347]
	rs1411316425	Likely pathogenic	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
	rs1411730717	-	-
	rs141437989	-	-
	rs141810774	-	-
	rs1419090736	Pathogenic	Hereditary spastic paraplegia 45 [MONDO:MONDO:0013165,MedGen:C3888209,OMIM:613162,Orphanet:320396]
	rs1419461472	-	-
	rs142619172	-	-
	rs142839840	-	-
	rs1431654292	-	-
	rs1432262955	-	-
	rs1440561057	-	-
	rs144181978	LP/P	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 (PEOB4) [MIM:617070]
	rs145097404	-	-
	rs145142862	-	-
	rs1452483770	Pathogenic/Likely pathogenic	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency|Severe combined immunodeficiency disease [MONDO:MONDO:0007064,MedGen:C1863236,OMIM:102700,Orphanet:277|Human Phenotype Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660]
	rs145370575	-	-
	rs146045963	-	-
	rs146054415	-	-
	rs1465803265	LP/P	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
	rs1475294107	-	-
	rs1477361505	-	-
	rs148119952	Pathogenic	Intellectual developmental disorder with or without peripheral neuropathy [MONDO:MONDO:0859240,MedGen:C5676969,OMIM:619844]
	rs148785781	-	-
	rs149353437	-	-
	rs149520391	Pathogenic	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [MONDO:MONDO:0007064,MedGen:C1863236,OMIM:102700,Orphanet:277]
	rs149917863	-	-
	rs150181226	LP/P	Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
	rs150262349	-	-
	rs151079750	LP/P	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
	rs1553245771	Pathogenic	not provided|Familial hemiplegic migraine [MedGen:C3661900|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
	rs1553500862	Pathogenic	Keratoconus 9 [MONDO:MONDO:0054771,MedGen:C4693660,OMIM:617928]
	rs1553710664	LP/P	Epileptic encephalopathy, infantile or early childhood, 3 (IECEE3) [MIM:618012]
	rs1554126925	Likely pathogenic	Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
	rs1554258695	Pathogenic/Likely pathogenic	Infantile-onset generalized dyskinesia with orofacial involvement|Striatal degeneration, autosomal dominant 2 [MONDO:MONDO:0044637,MedGen:C5567464,OMIM:616921,Orphanet:494526|MONDO:MONDO:0014835,MedGen:C4310791,OMIM:616922]
	rs1554263326	LP/P	Intellectual developmental disorder, autosomal dominant 48 (MRD48) [MIM:617751]
	rs1554264268	LP/P	Intellectual developmental disorder, autosomal dominant 48 (MRD48) [MIM:617751]
	rs1554329113	Likely pathogenic	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
	rs1554767313	Pathogenic/Likely pathogenic	Inborn genetic diseases|Developmental and epileptic encephalopathy, 31 [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014598,MedGen:C4225357,OMIM:616346,Orphanet:2382]
	rs1554767317	Pathogenic/Likely pathogenic	Inborn genetic diseases|Developmental and epileptic encephalopathy, 31 [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014598,MedGen:C4225357,OMIM:616346,Orphanet:2382]
	rs1554841990	Likely pathogenic	Aortic aneurysm, familial thoracic 6 [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788]
	rs1554859966	Pathogenic	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [MONDO:MONDO:0007918,MedGen:C1835265,OMIM:152950,Orphanet:2526]
	rs1555666392	Pathogenic/Likely pathogenic	Inborn genetic diseases|Baraitser-winter syndrome 2|Neurodevelopmental delay [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995|Human Phenotype Ontology:HP:0012758,MedGen:C4022738]
	rs1555666715	Likely pathogenic	Rare genetic deafness|Baraitser-winter syndrome 2|Baraitser-winter syndrome 2 [MedGen:C5680250,Orphanet:96210|MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995|MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]; Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
	rs1555690779	LP/P	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (NDAGSCW) [MIM:617807]
	rs1555690804	LP/P	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (NDAGSCW) [MIM:617807]
	rs1555695342	Pathogenic/Likely pathogenic	not provided|Lactic acidosis|Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A [MedGen:C3661900|Human Phenotype Ontology:HP:0003128,Human Phenotype Ontology:HP:0003255,Human Phenotype Ontology:HP:0005960,MONDO:MONDO:0006040,MedGen:C0001125|MONDO:MONDO:0957254,MedGen:C5830480,OMIM:620358]
	rs1555702147	Pathogenic	Lobular capillary hemangiomas|Capillary malformation|Segmental undergrowth associated with capillary malformation|CLOVES syndrome|not provided [|Human Phenotype Ontology:HP:0025104,MONDO:MONDO:0016231,MedGen:C0340803,Orphanet:211247||MONDO:MONDO:0013038,MedGen:C2752042,OMIM:612918,Orphanet:140944|MedGen:C3661900]
	rs1555891584	Pathogenic	Pseudohypoparathyroidism type I A [MONDO:MONDO:0007078,MedGen:C3494506,OMIM:103580,Orphanet:79443]
	rs1555953548	Pathogenic/Likely pathogenic	Inborn genetic diseases|Intellectual disability, X-linked 102|not provided [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010497,MedGen:C5393299,OMIM:300958,Orphanet:457260|MedGen:C3661900]
	rs1555954105	Pathogenic	Intellectual disability, X-linked 102 [MONDO:MONDO:0010497,MedGen:C5393299,OMIM:300958,Orphanet:457260]
	rs1558081384	Likely pathogenic	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
	rs1558112580	-	-
	rs1562907873	Pathogenic	Cystic fibrosis [MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586]
	rs1564328617	Likely pathogenic	Developmental and epileptic encephalopathy, 31|Inborn genetic diseases [MONDO:MONDO:0014598,MedGen:C4225357,OMIM:616346,Orphanet:2382|MeSH:D030342,MedGen:C0950123]
	rs1565627526	Pathogenic/Likely pathogenic	Tubulinopathy|Lissencephaly due to TUBA1A mutation [MONDO:MONDO:0100153,MedGen:CN850169|MONDO:MONDO:0012703,MedGen:C4305153,OMIM:611603,Orphanet:171680]
	rs1568018697	Pathogenic; association	Intellectual disability [Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756]; Abnormal brain morphology|Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies [Human Phenotype Ontology:HP:0012443,MedGen:C4021085|MONDO:MONDO:0032820,MedGen:C5231416,OMIM:618577]
	rs1568409626	Likely pathogenic	Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
	rs1569240005	Pathogenic	Intellectual disability, X-linked 102 [MONDO:MONDO:0010497,MedGen:C5393299,OMIM:300958,Orphanet:457260]; Cerebellar vermis hypoplasia|Congenital cerebellar hypoplasia|not provided [Human Phenotype Ontology:HP:0001320,MedGen:C1840379|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246|MedGen:CN517202]
	rs1571893319	Pathogenic	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
	rs1571893383	Pathogenic	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
	rs1581526962	Pathogenic	Complex cortical dysplasia with other brain malformations 7|not provided [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573|MedGen:CN517202]
	rs1584261979	Pathogenic	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
	rs1584793633	Likely pathogenic	Cystic fibrosis [MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586]
	rs1588270347	Likely pathogenic	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
	rs1589387419	Likely pathogenic	Adenosine kinase deficiency [MONDO:MONDO:0100255,MedGen:C4706555,OMIM:614300,Orphanet:289290,Orphanet:88616]
	rs1589590737	Pathogenic/Likely pathogenic	Syndromic retinitis pigmentosa|Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [MedGen:C5680332,Orphanet:98661|MONDO:MONDO:0007918,MedGen:C1835265,OMIM:152950,Orphanet:2526]
	rs1589792804	Likely pathogenic	Costello syndrome [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071]
	rs1594422676	LP/P	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
	rs1594427504	Likely pathogenic	not provided|Purine-nucleoside phosphorylase deficiency [MedGen:CN517202|MONDO:MONDO:0013171,MedGen:C0268125,OMIM:613179,Orphanet:760]
	rs1596232266	Pathogenic	Bloom syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008876,MedGen:C0005859,OMIM:210900,Orphanet:125|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
	rs1598551290	Pathogenic/Likely pathogenic	Autosomal dominant nonsyndromic hearing loss 20|not provided|Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635|MedGen:C3661900|MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]; Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
	rs1600509558	Likely pathogenic	Developmental and epileptic encephalopathy, 35 [MONDO:MONDO:0014719,MedGen:C4225256,OMIM:616647,Orphanet:457375]
	rs1601552154	Pathogenic	Adenylosuccinate lyase deficiency [MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050,Orphanet:46]
	rs1601586359	Pathogenic/Likely pathogenic	Adenylosuccinate lyase deficiency [MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050,Orphanet:46]
	rs1651731153	Pathogenic	not provided|Familial hemiplegic migraine [MedGen:C3661900|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
	rs1659986226	Pathogenic	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
	rs1757276859	Likely pathogenic	Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
	rs1757279879	Likely pathogenic	Lissencephaly [Human Phenotype Ontology:HP:0001339,Human Phenotype Ontology:HP:0002537,MONDO:MONDO:0018838,MedGen:C0266463,OMIM:PS607432,Orphanet:48471]
	rs1776147010	Likely pathogenic	Multiple benign circumferential skin creases on limbs 1 [MONDO:MONDO:0020738,MedGen:C4551592,OMIM:156610]
	rs1784814961	Likely pathogenic	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
	rs1784829872	Likely pathogenic	Baraitser-Winter syndrome 1|not provided [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995|MedGen:CN517202]
	rs17851045	US	Lung carcinoma
	rs17851045	Pathogenic/Likely pathogenic	Lung adenocarcinoma|B-cell chronic lymphocytic leukemia|Transitional cell carcinoma of the bladder|Pancreatic adenocarcinoma|Squamous cell lung carcinoma|Multiple myeloma|Acute myeloid leukemia|Neoplasm of the large intestine|Malignant melanoma of skin|Thyroid tumor|Hepatocellular carcinoma|Malignant neoplasm of body of uterus|Gastric adenocarcinoma|Cerebral arteriovenous malformation|Non-small cell lung carcinoma [Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MedGen:C0153574|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131]
	rs1788434338	Likely pathogenic	Neurodevelopmental disorder|Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities [MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926|MONDO:MONDO:0859243,MedGen:C5676975,OMIM:619854]
	rs1788864590	Pathogenic	not provided|Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities [MedGen:C3661900|MONDO:MONDO:0859243,MedGen:C5676975,OMIM:619854]
	rs1799216615	Likely pathogenic	Cystic fibrosis [MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586]
	rs1800089	LB/B	-
	rs1828723406	US	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
	rs1833622746	Likely pathogenic	Developmental and epileptic encephalopathy, 31 [MONDO:MONDO:0014598,MedGen:C4225357,OMIM:616346,Orphanet:2382]
	rs1834382153	Likely pathogenic	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
	rs1834792032	Likely pathogenic	Developmental and epileptic encephalopathy, 31 [MONDO:MONDO:0014598,MedGen:C4225357,OMIM:616346,Orphanet:2382]
	rs183618664	-	-
	rs1844517913	Likely pathogenic	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [MONDO:MONDO:0007918,MedGen:C1835265,OMIM:152950,Orphanet:2526]
	rs188888716	-	-
	rs1891497352	Pathogenic	Myopathy, distal, 5 [MONDO:MONDO:0014877,MedGen:C5567521,OMIM:617030,Orphanet:482601]
	rs1896092339	Pathogenic	Bloom syndrome [MONDO:MONDO:0008876,MedGen:C0005859,OMIM:210900,Orphanet:125]
	rs1909055807	LP/P	Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]
	rs1909056519	Likely pathogenic	Adenine phosphoribosyltransferase deficiency [MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723,Orphanet:976]
	rs1909057323	Pathogenic	Adenine phosphoribosyltransferase deficiency [MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723,Orphanet:976]
	rs1909078308	Pathogenic	Adenine phosphoribosyltransferase deficiency [MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723,Orphanet:976]
	rs1909147057	Pathogenic	Adenine phosphoribosyltransferase deficiency [MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723,Orphanet:976]
	rs1909160707	Likely pathogenic	Adenine phosphoribosyltransferase deficiency [MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723,Orphanet:976]
	rs192831239	US	Phosphoribosylaminoimidazole carboxylase deficiency (PAICSD) [MIM:619859]
	rs193922500	Pathogenic	Cystic fibrosis|Hereditary pancreatitis [MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676]; Cystic fibrosis [MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586]; Bronchiectasis with or without elevated sweat chloride 1 [MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400,Orphanet:60033]; Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis [MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180,Orphanet:48|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586]; Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders [MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180,Orphanet:48|]; Cystic fibrosis|not provided|not specified|Congenital bilateral aplasia of vas deferens from CFTR mutation|Bronchiectasis with or without elevated sweat chloride 1 [MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180,Orphanet:48|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400,Orphanet:60033]
	rs1942171146	Likely pathogenic	Lissencephaly due to TUBA1A mutation [MONDO:MONDO:0012703,MedGen:C4305153,OMIM:611603,Orphanet:171680]
	rs1942187200	Likely pathogenic	Lissencephaly due to TUBA1A mutation [MONDO:MONDO:0012703,MedGen:C4305153,OMIM:611603,Orphanet:171680]
	rs1952694899	Pathogenic	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 [MONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388,Orphanet:330050]
	rs199531230	-	-
	rs199532729	-	-
	rs199761904	-	-
	rs199897325	-	-
	rs199973851	-	-
	rs200010374	-	-
	rs200086262	Pathogenic	Developmental and epileptic encephalopathy, 35|Inosine triphosphatase deficiency|not provided [MONDO:MONDO:0014719,MedGen:C4225256,OMIM:616647,Orphanet:457375|MONDO:MONDO:0013461,MedGen:C0342800,OMIM:613850|MedGen:C3661900]
	rs200185120	-	-
	rs200204024	-	-
	rs200637968	-	-
	rs200790521	-	-
	rs200913020	-	-
	rs200971951	-	-
	rs201283535	-	-
	rs201354416	-	-
	rs201461737	-	-
	rs201477144	-	-
	rs201823652	Pathogenic	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
	rs201849671	-	-
	rs202092105	-	-
	rs202097988	-	-
	rs2031759596	Pathogenic	Microcephaly|Baraitser-winter syndrome 2 [Human Phenotype Ontology:HP:0000252,Human Phenotype Ontology:HP:0001366,Human Phenotype Ontology:HP:0005485,Human Phenotype Ontology:HP:0005489,Human Phenotype Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563|MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
	rs2043431490	Likely pathogenic	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies [MONDO:MONDO:0032820,MedGen:C5231416,OMIM:618577]
	rs2063875155	Likely pathogenic	Intellectual disability, X-linked 102 [MONDO:MONDO:0010497,MedGen:C5393299,OMIM:300958,Orphanet:457260]
	rs2063876594	Pathogenic	Intellectual disability, X-linked 102 [MONDO:MONDO:0010497,MedGen:C5393299,OMIM:300958,Orphanet:457260]
	rs2063908570	Pathogenic	Intellectual disability, X-linked 102 [MONDO:MONDO:0010497,MedGen:C5393299,OMIM:300958,Orphanet:457260]
	rs2063927503	Pathogenic	Intellectual disability, X-linked 102 [MONDO:MONDO:0010497,MedGen:C5393299,OMIM:300958,Orphanet:457260]
	rs2101738598	Likely pathogenic	Noonan syndrome 6 [MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648]
	rs2101742052	Pathogenic/Likely pathogenic	RASopathy|Noonan syndrome and Noonan-related syndrome|not provided|Colorectal cancer|Noonan syndrome 1 [MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MedGen:C3661900|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648]
	rs2101743991	Likely pathogenic	Noonan syndrome 6 [MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648]
	rs2101989829	Pathogenic	Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
	rs2102735904	Likely pathogenic	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
	rs2102736408	Pathogenic	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
	rs2109133174	Pathogenic	Retinitis pigmentosa 40 [MONDO:MONDO:0013429,MedGen:C3151107,OMIM:613801,Orphanet:791]
	rs2113785156	Likely pathogenic	not provided|Complex cortical dysplasia with other brain malformations 5 [MedGen:C3661900|MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763]
	rs2115712676	Pathogenic	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities [MONDO:MONDO:0859243,MedGen:C5676975,OMIM:619854]
	rs2115712712	Pathogenic	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities [MONDO:MONDO:0859243,MedGen:C5676975,OMIM:619854]
	rs2116052322	Likely pathogenic	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities [MONDO:MONDO:0859243,MedGen:C5676975,OMIM:619854]
	rs2118276763	Pathogenic/Likely pathogenic	not provided|Sturge-Weber syndrome [MedGen:C3661900|MONDO:MONDO:0008501,MedGen:C0038505,OMIM:185300,Orphanet:3205]
	rs2118444312	Pathogenic	Familial multiple nevi flammei|not provided [MONDO:MONDO:0008094,MedGen:C2931029,OMIM:163000,Orphanet:624|MedGen:C3661900]
	rs2121244643	Likely pathogenic	Lissencephaly due to TUBA1A mutation [MONDO:MONDO:0012703,MedGen:C4305153,OMIM:611603,Orphanet:171680]
	rs2121245032	Pathogenic	Lissencephaly due to TUBA1A mutation [MONDO:MONDO:0012703,MedGen:C4305153,OMIM:611603,Orphanet:171680]
	rs2122346498	Pathogenic/Likely pathogenic	Inosine triphosphatase deficiency|Infantile epileptic dyskinetic encephalopathy [MONDO:MONDO:0013461,MedGen:C0342800,OMIM:613850|MONDO:MONDO:0018226,MedGen:C4552072,Orphanet:364063]
	rs2124291450	Pathogenic	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
	rs2124302024	Pathogenic	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
	rs2133273980	Likely pathogenic	Aortic aneurysm, familial thoracic 6 [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788]
	rs2135806030	Pathogenic	Noonan syndrome 3 [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648]
	rs2137302207	Pathogenic	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 [MONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388,Orphanet:330050]
	rs2141505552	Likely pathogenic	Thyroid cancer, nonmedullary, 1 [MONDO:MONDO:0008567,MedGen:C4721429,OMIM:188550]
	rs2145244734	Likely pathogenic	Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
	rs2145971509	Pathogenic	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
	rs2146005656	Likely pathogenic	Pseudohypoparathyroidism type I A [MONDO:MONDO:0007078,MedGen:C3494506,OMIM:103580,Orphanet:79443]
	rs2146270332	Pathogenic	Pseudohypoparathyroidism type I A [MONDO:MONDO:0007078,MedGen:C3494506,OMIM:103580,Orphanet:79443]
	rs2146278555	Pathogenic/Likely pathogenic	Pseudohypoparathyroidism type I A|not provided [MONDO:MONDO:0007078,MedGen:C3494506,OMIM:103580,Orphanet:79443|MedGen:C3661900]
	rs2146285582	Pathogenic/Likely pathogenic	not provided|Pseudohypoparathyroidism type I A [MedGen:C3661900|MONDO:MONDO:0007078,MedGen:C3494506,OMIM:103580,Orphanet:79443]
	rs2146377060	Pathogenic	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [MONDO:MONDO:0015912,MedGen:C5200934,OMIM:155100,Orphanet:182050]
	rs2146658733	Pathogenic	Adenylosuccinate lyase deficiency [MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050,Orphanet:46]
	rs2147353543	Pathogenic	not provided|Intellectual disability, X-linked 102 [MedGen:C3661900|MONDO:MONDO:0010497,MedGen:C5393299,OMIM:300958,Orphanet:457260]
	rs2147682409	Likely pathogenic	Charcot-Marie-Tooth Neuropathy X|Charcot-Marie-Tooth disease X-linked recessive 5|not provided [MedGen:CN118851|MONDO:MONDO:0010699,MedGen:C1839566,OMIM:311070,Orphanet:99014|MedGen:C3661900]
	rs2149109587	Pathogenic	Cutis laxa, X-linked [MONDO:MONDO:0010572,MedGen:C0268353,OMIM:304150,Orphanet:198]; X-linked distal spinal muscular atrophy type 3 [MONDO:MONDO:0010338,MedGen:C1845359,OMIM:300489,Orphanet:139557]; Menkes kinky-hair syndrome|Menkes kinky-hair syndrome [MONDO:MONDO:0010651,MedGen:C0022716,OMIM:309400,Orphanet:565|MONDO:MONDO:0010651,MedGen:C0022716,OMIM:309400,Orphanet:565]
	rs2151162501	Pathogenic	Bloom syndrome [MONDO:MONDO:0008876,MedGen:C0005859,OMIM:210900,Orphanet:125]
	rs2372536	-	-
	rs2672150	-	-
	rs267606635	US	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
	rs267606699	LP/P	Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
	rs267606700	-	-
	rs267606700	LP/P	Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
	rs267606701	LP/P	Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
	rs267606863	LP/P	Lesch-Nyhan syndrome (LNS) [MIM:300322]
	rs267606920	LP/P	Noonan syndrome 6 (NS6) [MIM:613224]
	rs267606920	Pathogenic	Noonan syndrome 6|not provided|Noonan syndrome 1|RASopathy|NRAS-related condition [MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648|MedGen:C3661900|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|]
	rs281875326	Pathogenic	Baraitser-winter syndrome 2|not provided|Congenital anomaly of kidney and urinary tract|Inborn genetic diseases [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995|MedGen:CN517202|MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545|MeSH:D030342,MedGen:C0950123]
	rs281875331	Pathogenic	Baraitser-Winter syndrome 1|not provided [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995|MedGen:CN517202]
	rs28933401	Likely pathogenic	Migraine, familial hemiplegic, 2|not provided [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569|MedGen:C3661900]
	rs28933406	Likely pathogenic	B-cell chronic lymphocytic leukemia|Malignant melanoma of skin|Pancreatic adenocarcinoma|Thyroid tumor|Hepatocellular carcinoma|Gastric adenocarcinoma|Squamous cell lung carcinoma|Transitional cell carcinoma of the bladder|Acute myeloid leukemia|Neoplasm of the large intestine|Malignant neoplasm of body of uterus|Multiple myeloma|Lung adenocarcinoma [Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MedGen:C0153574|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013]
	rs28933406	LP/P	Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470]
	rs28933406	Pathogenic/Likely pathogenic	Thyroid cancer, nonmedullary, 2|Spermatocytic seminoma|Breast neoplasm|Noonan syndrome 3|not provided|Lip and oral cavity carcinoma [MONDO:MONDO:0008566,MedGen:C4225426,OMIM:188470|MONDO:MONDO:0020513,MedGen:C0334517,Orphanet:99865|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|MedGen:CN517202|MONDO:MONDO:0023644,MedGen:C0220641]
	rs28939082	LP/P	Optic atrophy 1 (OPA1) [MIM:165500]
	rs28999113	-	-
	rs28999113	LP/P	Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]
	rs3169258	Pathogenic	Adenine phosphoribosyltransferase deficiency [MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723,Orphanet:976]
	rs34082669	LB/B	-
	rs34354104	LB/B	-
	rs35698797	LB/B	-
	rs367543028	Pathogenic	Bloom syndrome|not provided|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008876,MedGen:C0005859,OMIM:210900,Orphanet:125|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
	rs367637749	-	-
	rs368366043	-	-
	rs368548274	-	-
	rs369010777	-	-
	rs369323241	-	-
	rs369522795	-	-
	rs369643556	-	-
	rs369681854	Pathogenic	Adenine phosphoribosyltransferase deficiency [MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723,Orphanet:976]
	rs370539470	-	-
	rs371090069	-	-
	rs372270451	-	-
	rs372290095	Pathogenic	Pseudohypoparathyroidism type I A|not provided [MONDO:MONDO:0007078,MedGen:C3494506,OMIM:103580,Orphanet:79443|MedGen:C3661900]
	rs372332465	-	-
	rs372401715	-	-
	rs372912506	-	-