Knowledge base for genomic medicine in Japanese
特発性拡張型心筋症
Excelでダウンロード
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000256.3(MYBPC3):c.906-1G>CMYBPC3Pathogenic114736858147368581CGcriteria provided, multiple submitters, no conflictsClinGen:CA016027,OMIM:600958.0017
single nucleotide variantNM_000256.3(MYBPC3):c.3330+2T>GMYBPC3Pathogenic114735474347354743ACcriteria provided, multiple submitters, no conflictsClinGen:CA013951,OMIM:600958.0020
single nucleotide variantNM_004168.4(SDHA):c.1571C>T (p.Ala524Val)SDHAPathogenic/Likely pathogenic5251126251126CTcriteria provided, multiple submitters, no conflictsClinGen:CA119880,UniProtKB:P31040#VAR_016878,OMIM:600857.0002
single nucleotide variantNM_004168.4(SDHA):c.1A>C (p.Met1Leu)SDHAPathogenic5218471218471ACcriteria provided, multiple submitters, no conflictsClinGen:CA119881,OMIM:600857.0003
single nucleotide variantNM_004168.4(SDHA):c.1664G>A (p.Gly555Glu)SDHAPathogenic5251453251453GAcriteria provided, single submitterClinGen:CA119883,UniProtKB:P31040#VAR_016879,OMIM:600857.0004
single nucleotide variantNM_000447.3(PSEN2):c.422A>T (p.Asn141Ile)PSEN2Pathogenic1227073304227073304ATcriteria provided, multiple submitters, no conflictsClinGen:CA224953,UniProtKB:P49810#VAR_006462,OMIM:600759.0001
single nucleotide variantNM_000447.3(PSEN2):c.364A>C (p.Thr122Pro)PSEN2Pathogenic/Likely pathogenic1227073246227073246ACcriteria provided, multiple submitters, no conflictsClinGen:CA224950,UniProtKB:P49810#VAR_009214,OMIM:600759.0005
single nucleotide variantNM_004006.3(DMD):c.2791G>T (p.Glu931Ter)DMDPathogenicX3250304832503048CAcriteria provided, single submitterClinGen:CA341019,OMIM:300377.0003
single nucleotide variantNM_004006.3(DMD):c.5551C>T (p.Gln1851Ter)DMDPathogenicX3236409532364095GAcriteria provided, multiple submitters, no conflictsClinGen:CA341022,OMIM:300377.0004
single nucleotide variantNM_004006.3(DMD):c.8944C>T (p.Arg2982Ter)DMDPathogenicX3146273831462738GAcriteria provided, multiple submitters, no conflictsClinGen:CA273079,OMIM:300377.0005