Knowledge base for genomic medicine in Japanese
遺伝性難聴
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln)AIFM1Likely pathogenicX129267384129267384CTcriteria provided, single submitterClinGen:CA279885,UniProtKB:O95831#VAR_076217,OMIM:300169.0003
single nucleotide variantNM_004208.4(AIFM1):c.1184T>G (p.Val395Gly)AIFM1Likely pathogenicX129270141129270141ACcriteria provided, single submitterClinGen:CA322395
single nucleotide variantNM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp)AIFM1Pathogenic/Likely pathogenicX129270061129270061GAcriteria provided, multiple submitters, no conflictsClinGen:CA175066,UniProtKB:O95831#VAR_076215,OMIM:300169.0006
single nucleotide variantNM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln)AIFM1PathogenicX129270060129270060CTcriteria provided, single submitterClinGen:CA175068,UniProtKB:O95831#VAR_076214,OMIM:300169.0007
single nucleotide variantNM_001614.5(ACTG1):c.1002G>C (p.Glu334Asp)ACTG1Likely pathogenic177947784279477842CGcriteria provided, single submitter-
single nucleotide variantNM_001614.5(ACTG1):c.277G>A (p.Glu93Lys)ACTG1Likely pathogenic177947901579479015CTcriteria provided, single submitter-
single nucleotide variantNM_001614.5(ACTG1):c.847A>G (p.Met283Val)ACTG1Likely pathogenic177947809079478090TCcriteria provided, single submitter-
single nucleotide variantNM_001614.5(ACTG1):c.206A>G (p.Tyr69Cys)ACTG1Likely pathogenic177947908679479086TCcriteria provided, single submitterClinGen:CA401463179
single nucleotide variantNM_001614.5(ACTG1):c.1004G>A (p.Arg335His)ACTG1Pathogenic/Likely pathogenic177947784079477840CTcriteria provided, multiple submitters, no conflictsClinGen:CA401458580
single nucleotide variantNM_001614.5(ACTG1):c.617G>A (p.Arg206Gln)ACTG1Likely pathogenic177947839979478399CTcriteria provided, multiple submitters, no conflictsClinGen:CA401460425