Total: 789517 genomic variation-disease records
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- RCV000003972 - NM_000372.5(TYR):c.823G>T (p.Val275Phe) AND Oculocutaneous albinism type 1B / Pathogenic
- RCV000003979 - NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) AND Oculocutaneous albinism type 1, temperature sensitive / Pathogenic
- RCV000003984 - NM_000372.5(TYR):c.265T>C (p.Cys89Arg) AND Tyrosinase-negative oculocutaneous albinism / Pathogenic
- RCV000003991 - NM_000372.4(TYR):c.286dupA (p.Met96fs) AND Tyrosinase-negative oculocutaneous albinism / Pathogenic
- RCV000003996 - NM_000372.5(TYR):c.61C>T (p.Pro21Ser) AND Tyrosinase-negative oculocutaneous albinism / Pathogenic
- RCV000003999 - NM_000372.5(TYR):c.649C>T (p.Arg217Trp) AND Tyrosinase-negative oculocutaneous albinism / Pathogenic
- RCV000004004 - NM_000372.5(TYR):c.1209G>T (p.Arg403Ser) AND Tyrosinase-negative oculocutaneous albinism / Pathogenic
- RCV000004011 - NM_000372.5(TYR):c.1A>G (p.Met1Val) AND Oculocutaneous albinism type 1B / Pathogenic
- RCV000004016 - NM_001301365.1(LYST):c.9590del (p.Tyr3197fs) AND Chediak-Higashi syndrome, childhood type / Pathogenic
- RCV000004018 - NM_001301365.1(LYST):c.3085C>T (p.Gln1029Ter) AND Chediak-Higashi syndrome, childhood type / Pathogenic
- RCV000004023 - GALC, 30-KB DEL, IVS10 AND Galactosylceramide beta-galactosidase deficiency / Pathogenic
- RCV000004030 - NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) AND Deficiency of butyryl-CoA dehydrogenase / Conflicting interpretations of pathogenicity
- RCV000004035 - NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) AND Deficiency of butyryl-CoA dehydrogenase / Benign
- RCV000004037 - NM_000017.4(ACADS):c.307_309GAG[1] (p.Glu104del) AND Deficiency of butyryl-CoA dehydrogenase / Likely pathogenic
- RCV000004042 - NM_016123.3(IRAK4):c.821del (p.Leu274fs) AND IRAK4 deficiency / Pathogenic
- RCV000004054 - NM_000053.4(ATP7B):c.1708-1G>C AND Wilson disease / Pathogenic/Likely pathogenic
- RCV000004061 - NM_000053.4(ATP7B):c.2755C>G (p.Arg919Gly) AND Wilson disease / Pathogenic/Likely pathogenic
- RCV000004066 - NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) AND Wilson disease / Conflicting interpretations of pathogenicity
- RCV000004068 - NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter) AND Wilson disease / Likely pathogenic
- RCV000004073 - NM_006623.4(PHGDH):c.714del (p.Ile239fs) AND Phosphoglycerate dehydrogenase deficiency / Pathogenic