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)
DuplicationNM_000264.5(PTCH1):c.1364dup (p.Thr456fs)PTCH1Pathogenic99823996798239968TTAcriteria provided, single submitter-
single nucleotide variantNM_000264.5(PTCH1):c.1225C>T (p.Gln409Ter)PTCH1Pathogenic99824045998240459GAcriteria provided, single submitter-
single nucleotide variantNM_000264.5(PTCH1):c.1198C>T (p.Gln400Ter)PTCH1Pathogenic99824129998241299GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000264.5(PTCH1):c.1161G>A (p.Trp387Ter)PTCH1Pathogenic99824133698241336CTcriteria provided, single submitter-
DeletionNM_000264.5(PTCH1):c.1128del (p.Phe376fs)PTCH1Pathogenic99824136998241369TGTcriteria provided, single submitter-
single nucleotide variantNM_000264.5(PTCH1):c.1002T>G (p.Tyr334Ter)PTCH1Pathogenic99824231698242316ACcriteria provided, single submitter-
DeletionNM_000264.5(PTCH1):c.970_976del (p.Asn324fs)PTCH1Pathogenic99824234298242348CCACCATTCcriteria provided, single submitter-
DeletionNM_000264.5(PTCH1):c.961del (p.Val322fs)PTCH1Pathogenic99824235798242357AGAcriteria provided, single submitter-
DuplicationNM_000264.5(PTCH1):c.290dup (p.Asn97fs)PTCH1Pathogenic99826879298268793GGTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000264.5(PTCH1):c.283C>T (p.Gln95Ter)PTCH1Pathogenic99826880098268800GAcriteria provided, multiple submitters, no conflicts-