Knowledge base for genomic medicine in Japanese
原発性免疫不全症候群
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter)NFKB2Pathogenic10104161895104161895CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:164012.0002
single nucleotide variantNM_000101.4(CYBA):c.155T>C (p.Leu52Pro)CYBAPathogenic168871355788713557AGcriteria provided, single submitterUniProtKB (protein):P13498#VAR_060577,UniProtKB (variants):VAR_060577
single nucleotide variantNM_000101.4(CYBA):c.268C>T (p.Arg90Trp)CYBAPathogenic168871318288713182GAcriteria provided, single submitterUniProtKB (protein):P13498#VAR_060579,UniProtKB (variants):VAR_060579
single nucleotide variantNM_000022.4(ADA):c.385G>A (p.Val129Met)ADAPathogenic204325430343254303CTcriteria provided, single submitterUniProtKB (protein):P00813#VAR_002220,UniProtKB (variants):VAR_002220
single nucleotide variantNM_000022.4(ADA):c.43C>G (p.His15Asp)ADAPathogenic/Likely pathogenic204326492043264920GCcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P00813#VAR_002210,UniProtKB (variants):VAR_002210
single nucleotide variantNM_000022.4(ADA):c.529G>A (p.Val177Met)ADAPathogenic/Likely pathogenic204325292043252920CTcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P00813#VAR_002228,UniProtKB (variants):VAR_002228
single nucleotide variantNM_000397.3(CYBB):c.1016C>A (p.Pro339His)CYBBPathogenicX3766324837663248CAcriteria provided, single submitterUniProtKB (protein):P04839#VAR_002438,UniProtKB (variants):VAR_002438
single nucleotide variantNM_000397.3(CYBB):c.1223G>A (p.Gly408Glu)CYBBPathogenicX3766433037664330GAcriteria provided, single submitterUniProtKB (protein):P04839#VAR_007891,UniProtKB (variants):VAR_007891
single nucleotide variantNM_000397.3(CYBB):c.1609T>C (p.Cys537Arg)CYBBPathogenicX3767006637670066TCcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P04839#VAR_007898,UniProtKB (variants):VAR_007898
single nucleotide variantNM_000397.3(CYBB):c.626A>G (p.His209Arg)CYBBLikely pathogenicX3765534637655346AGcriteria provided, single submitterUniProtKB (protein):P04839#VAR_025616,UniProtKB (variants):VAR_025616