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)
DeletionNM_000264.5(PTCH1):c.251_258del (p.Gln84fs)PTCH1Pathogenic99826882598268832AGAGTCTCTAcriteria provided, single submitter-
DeletionNM_016169.4(SUFU):c.649_661del (p.Gln217fs)SUFUPathogenic10104353442104353454GGGCAGGGCATCCTGcriteria provided, single submitter-
DeletionNC_000009.12:g.(?_95101697)_(95508371_?)delPTCH1Pathogenic99786397998270653nanacriteria provided, single submitter-
DeletionNM_000264.5(PTCH1):c.3450-2_3483delPTCH1Pathogenic99821218998212224GGATGGTGAGGATCGCCAGCACAGCAAAGAAATACCTGcriteria provided, single submitter-
single nucleotide variantNM_000264.5(PTCH1):c.3168+5G>APTCH1Pathogenic99822029098220290CTcriteria provided, single submitter-
IndelNM_000264.5(PTCH1):c.945+2_945+8delinsCGCTPTCH1Likely pathogenic99824266498242670GTACTCAAGCGcriteria provided, single submitter-
single nucleotide variantNM_016169.4(SUFU):c.684-2A>GSUFULikely pathogenic10104353748104353748AGcriteria provided, single submitter-
single nucleotide variantNM_000264.5(PTCH1):c.3450-1G>APTCH1Pathogenic99821222398212223CTcriteria provided, single submitter-
DeletionNC_000010.11:g.(?_102549960)_(102550116_?)delSUFUPathogenic10104309717104309873nanacriteria provided, single submitter-
DeletionNC_000010.11:g.(?_102504143)_(102550116_?)delSUFUPathogenic10104263900104309873nanacriteria provided, single submitter-