Knowledge base for genomic medicine in Japanese
基底細胞母斑症候群
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
copy number lossGRCh38/hg38 1p34.1(chr1:44838131-44841480)x1PTCH2Pathogenic14530380345307152nanacriteria provided, single submitterdbVar:nssv577204,dbVar:nsv532505
single nucleotide variantNM_016169.3(SUFU):c.1022+1G>ASUFUPathogenic10104359302104359302GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:607035.0003
duplicationNM_016169.3(SUFU):c.71dup (p.Ala25fs)SUFUPathogenic10104263973104263974GGCcriteria provided, single submitterOMIM Allelic Variant:607035.0006
single nucleotide variantNM_000264.5(PTCH1):c.1081C>T (p.Gln361Ter)PTCH1Pathogenic99824141698241416GAcriteria provided, single submitter-
single nucleotide variantNM_000264.5(PTCH1):c.387G>A (p.Trp129Ter)PTCH1Pathogenic99826869698268696CTcriteria provided, single submitterOMIM Allelic Variant:601309.0017
single nucleotide variantNM_000264.5(PTCH1):c.1093C>T (p.Gln365Ter)PTCH1Pathogenic99824140498241404GAcriteria provided, single submitterOMIM Allelic Variant:601309.0003
single nucleotide variantNM_000264.5(PTCH1):c.3168+2T>CPTCH1Pathogenic99822029398220293AGcriteria provided, single submitter-
single nucleotide variantNM_000264.5(PTCH1):c.2495T>A (p.Val832Asp)PTCH1Likely pathogenic99822946398229463ATcriteria provided, single submitter-
single nucleotide variantNM_000264.5(PTCH1):c.343G>T (p.Gly115Ter)PTCH1Pathogenic99826874098268740CAcriteria provided, single submitter-
single nucleotide variantNM_000264.5(PTCH1):c.3450-2A>GPTCH1Pathogenic99821222498212224TCcriteria provided, single submitter-