Total: 723166 genomic variation-disease records
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- RCV000001965 - NM_000255.3(MMUT):c.643G>A (p.Gly215Ser) AND METHYLMALONIC ACIDURIA, mut(0) TYPE / Pathogenic
- RCV000001967 - MUT, 1808G-A AND METHYLMALONIC ACIDURIA, mut(0) TYPE / Pathogenic
- RCV000001972 - NM_001281723.2(BTD):c.104_110delGCGGCTGinsTCC (p.Cys35Phefs) AND Biotinidase deficiency / Pathogenic
- RCV000001979 - NM_001281724.2(BTD):c.1374A>C (p.Gln458His) AND Biotinidase deficiency / Pathogenic
- RCV000001984 - NM_000411.6(HLCS):c.710T>C (p.Leu237Pro) AND Holocarboxylase synthetase deficiency / Likely pathogenic
- RCV000001991 - NM_000411.6(HLCS):c.647T>G (p.Leu216Arg) AND Holocarboxylase synthetase deficiency / Likely pathogenic
- RCV000001996 - NM_022132.4(MCCC2):c.517dupT (p.Ser173Phefs) AND 3-methylcrotonyl CoA carboxylase 2 deficiency / Pathogenic
- RCV000001999 - NM_022132.4(MCCC2):c.929C>G (p.Pro310Arg) AND 3-methylcrotonyl CoA carboxylase 2 deficiency / Pathogenic
- RCV000002004 - NM_022132.4(MCCC2):c.838G>T (p.Asp280Tyr) AND 3-methylcrotonyl CoA carboxylase 2 deficiency / Pathogenic
- RCV000002011 - NM_020166.4(MCCC1):c.2079del (p.Val694Terfs) AND 3 Methylcrotonyl-CoA carboxylase 1 deficiency / Pathogenic
- RCV000002016 - NM_198578.3(LRRK2):c.3364A>G (p.Ile1122Val) AND Parkinson disease 8, autosomal dominant / Pathogenic
- RCV000002018 - NM_198578.3(LRRK2):c.6059T>C (p.Ile2020Thr) AND Parkinson disease 8, autosomal dominant / Pathogenic
- RCV000002023 - NM_030957.3(ADAMTS10):c.810+1G>A AND Weill-Marchesani syndrome 1 / Pathogenic
- RCV000002030 - NM_145200.3(CABP4):c.370C>T (p.Arg124Cys) AND Congenital stationary night blindness, type 2B / Pathogenic
- RCV000002035 - NM_000022.3(ADA):c.911T>G (p.Leu304Arg) AND Severe combined immunodeficiency due to ADA deficiency / Pathogenic
- RCV000002037 - ADA, 3.25-KB DEL, ALU-RELATED AND Severe combined immunodeficiency due to ADA deficiency / Pathogenic
- RCV000002042 - NM_000022.2(ADA):c.320T>C (p.Leu107Pro) AND Severe combined immunodeficiency due to ADA deficiency / Pathogenic/Likely pathogenic
- RCV000002049 - NM_000022.3(ADA):c.976-34G>A AND SCID due to ADA deficiency, delayed onset / Pathogenic
- RCV000002054 - NM_000022.3(ADA):c.221G>T (p.Gly74Val) AND Severe combined immunodeficiency due to ADA deficiency / Pathogenic
- RCV000002061 - NM_000022.3(ADA):c.467G>A (p.Arg156His) AND SCID due to ADA deficiency, delayed onset / Pathogenic