Total: 705131 genomic variation-disease records
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- RCV000003171 - NM_000051.3(ATM):c.7886_7890delTATTA (p.Ile2629Serfs) AND Ataxia-telangiectasia syndrome / Pathogenic
- RCV000003176 - ATM, IVS61DS, 2-BP INS, +2TA AND Familial cancer of breast / Pathogenic
- RCV000003178 - NM_000051.3(ATM):c.1066-6T>G AND Ataxia-telangiectasia syndrome / Conflicting interpretations of pathogenicity
- RCV000003183 - NM_000051.3(ATM):c.5309C>G (p.Ser1770Ter) AND T-cell prolymphocytic leukemia / Pathogenic
- RCV000003190 - NM_000487.5(ARSA):c.*96A>G AND Arylsulfatase A pseudodeficiency / Pathogenic
- RCV000003195 - NM_000487.5(ARSA):c.1283C>T (p.Pro428Leu) AND Metachromatic leukodystrophy, juvenile type / Pathogenic
- RCV000003198 - NM_000487.5(ARSA):c.302G>A (p.Gly101Asp) AND Metachromatic leukodystrophy, adult type / Pathogenic
- RCV000003203 - NM_000487.5(ARSA):c.542T>G (p.Ile181Ser) AND Metachromatic leukodystrophy, adult type / Pathogenic
- RCV000003210 - NM_000487.5(ARSA):c.413C>T (p.Pro138Leu) AND Metachromatic leukodystrophy, severe / Pathogenic
- RCV000003215 - NM_000487.5(ARSA):c.511G>A (p.Asp171Asn) AND Arylsulfatase A pseudodeficiency / Pathogenic
- RCV000003217 - NM_000487.5(ARSA):c.677C>T (p.Ala226Val) AND Metachromatic leukodystrophy / Uncertain significance
- RCV000003222 - ARSA, IVS4DS, G-A, +1 AND Metachromatic leukodystrophy, severe / Pathogenic
- RCV000003229 - NM_000487.5(ARSA):c.1136C>T (p.Pro379Leu) AND Arylsulfatase a pseudodeficiency, severe / Pathogenic
- RCV000003234 - NM_000487.5(ARSA):c.1462C>T (p.Gln488Ter) AND Arylsulfatase A pseudodeficiency / Pathogenic
- RCV000003241 - NM_052845.3(MMAB):c.556C>T (p.Arg186Trp) AND Methylmalonic aciduria cblB type / Pathogenic
- RCV000003246 - NM_005670.3(EPM2A):c.322C>T (p.Arg108Cys) AND Lafora disease / Pathogenic
- RCV000003248 - NM_005670.3(EPM2A):c.512G>A (p.Arg171His) AND Lafora disease / Pathogenic
- RCV000003253 - NM_005670.3(EPM2A):c.94T>G (p.Trp32Gly) AND Lafora disease / Pathogenic
- RCV000003260 - NM_000218.2(KCNQ1):c.532G>C (p.Ala178Pro) AND Long QT syndrome 1 / Pathogenic
- RCV000003265 - NM_000218.2(KCNQ1):c.760G>A (p.Val254Met) AND Long QT syndrome 1 / Pathogenic