Total: 727082 genomic variation-disease records
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- RCV000002328 - NM_000433.3(NCF2):c.[479A>T;481A>G] AND Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 / Pathogenic
- RCV000002333 - NM_000433.3(NCF2):c.55_63delAAGAAGGAC (p.Lys19_Asp21del) AND Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 / Pathogenic
- RCV000002340 - NM_000265.5(NCF1):c.811delG (p.Val271Serfs) AND Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 / Pathogenic
- RCV000002345 - CYBA, 1-BP DEL, 272C AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative / Pathogenic
- RCV000002347 - NM_000101.3(CYBA):c.354C>A (p.Ser118Arg) AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative / Pathogenic
- RCV000002352 - NM_000101.3(CYBA):c.7C>T (p.Gln3Ter) AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative / Pathogenic
- RCV000002359 - NM_014874.3(MFN2):c.839G>A (p.Arg280His) AND Charcot-Marie-Tooth disease, type 2A2A / Pathogenic
- RCV000002364 - NM_014874.3(MFN2):c.280C>T (p.Arg94Trp) AND Charcot-Marie-Tooth disease, type 2A2A / Pathogenic
- RCV000002371 - NM_014874.3(MFN2):c.310C>T (p.Arg104Trp) AND Charcot-Marie-Tooth disease, type 2A2A / Pathogenic
- RCV000002376 - NM_015046.5(SETX):c.6638C>T (p.Pro2213Leu) AND Spinocerebellar ataxia autosomal recessive 1 / Pathogenic
- RCV000002378 - NM_015046.5(SETX):c.994C>T (p.Arg332Trp) AND Spinocerebellar ataxia autosomal recessive 1 / Pathogenic
- RCV000002383 - NM_015046.5(SETX):c.[1807A>G;1957C>A] AND Spinocerebellar ataxia autosomal recessive 1 / Pathogenic
- RCV000002390 - NM_005609.3(PYGM):c.1628A>C (p.Lys543Thr) AND Glycogen storage disease, type V / Pathogenic
- RCV000002395 - PYGM, IVS14, G-A, +1 AND Glycogen storage disease, type V / Pathogenic
- RCV000002398 - NM_005609.3(PYGM):c.1725del (p.Lys575Asnfs) AND Glycogen storage disease, type V / Pathogenic
- RCV000002403 - NM_005609.3(PYGM):c.1827G>A (p.Lys609=) AND Glycogen storage disease, type V / Likely pathogenic
- RCV000002410 - ETHE1, 1-BP INS, 221A AND Ethylmalonic encephalopathy / Pathogenic
- RCV000002415 - SYNE1, IVS84AS, A-G, -2 AND Spinocerebellar ataxia, autosomal recessive 8 / Pathogenic
- RCV000002417 - NM_033071.3(SYNE1):c.8716A>T (p.Arg2906Ter) AND Spinocerebellar ataxia, autosomal recessive 8 / Pathogenic
- RCV000002422 - NM_033071.3(SYNE1):c.24071G>A (p.Arg8024His) AND Emery-Dreifuss muscular dystrophy 4, autosomal dominant / Pathogenic