Total: 780218 genomic variation-disease records

• RCV000002333 - NM_000433.3(NCF2):c.55_63del (p.Lys19_Asp21del) AND Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 / Likely pathogenic
• RCV000002340 - NM_000265.6(NCF1):c.811del (p.Val271fs) 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_000101.4(CYBA):c.354C>A (p.Ser118Arg) AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative / Pathogenic
• RCV000002352 - NM_000101.4(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_015046.7(SETX):c.6638C>T (p.Pro2213Leu) AND Spinocerebellar ataxia autosomal recessive 1 / Pathogenic
• RCV000002378 - NM_015046.7(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_005609.4(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_005609.4(PYGM):c.1725del (p.Lys575fs) AND Glycogen storage disease, type V / Pathogenic
• RCV000002403 - NM_005609.4(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_182961.4(SYNE1):c.8695A>T (p.Arg2899Ter) AND Spinocerebellar ataxia, autosomal recessive 8 / Pathogenic
• RCV000002422 - NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His) AND Emery-Dreifuss muscular dystrophy 4, autosomal dominant / Pathogenic
• RCV000002429 - NM_130468.3(CHST14):c.878A>G (p.Tyr293Cys) AND Ehlers-Danlos syndrome, musculocontractural type / Pathogenic