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_000022.4(ADA):c.704G>A (p.Arg235Gln)ADAPathogenic/Likely pathogenic204325154643251546CTcriteria provided, multiple submitters, no conflictsClinGen:CA10577124
single nucleotide variantNM_000022.4(ADA):c.478+1G>AADAPathogenic204325420943254209CTcriteria provided, multiple submitters, no conflictsClinGen:CA9871670,OMIM:608958.0026
DuplicationNM_000022.4(ADA):c.532dup (p.Val178fs)ADAPathogenic204325291643252917AACcriteria provided, multiple submitters, no conflictsClinGen:CA10603464
single nucleotide variantNM_000022.4(ADA):c.7C>T (p.Gln3Ter)ADAPathogenic204328024243280242GAcriteria provided, multiple submitters, no conflictsClinGen:CA16607987
single nucleotide variantNM_000022.4(ADA):c.703C>T (p.Arg235Trp)ADALikely pathogenic204325154743251547GAreviewed by expert panelClinGen:CA9871550
DeletionNM_000022.4(ADA):c.532del (p.Val177_Val178insTer)ADAPathogenic204325291743252917ACAreviewed by expert panelClinGen:CA636174167
single nucleotide variantNM_000022.4(ADA):c.424C>T (p.Arg142Ter)ADAPathogenic204325426443254264GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000022.4(ADA):c.218+2T>GADALikely pathogenic204325768643257686ACcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000022.4(ADA):c.218+1G>AADALikely pathogenic204325768743257687CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000022.4(ADA):c.95+1G>AADAPathogenic204326486743264867CTcriteria provided, multiple submitters, no conflictsOMIM:608958.0022