Knowledge base for genomic medicine in Japanese
ロイス・ディーツ症候群
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_004612.4(TGFBR1):c.1303G>C (p.Asp435His)TGFBR1Likely pathogenic9101909983101909983GCcriteria provided, single submitter-
single nucleotide variantNM_003238.6(TGFB2):c.346+1G>TTGFB2Likely pathogenic1218520390218520390GTcriteria provided, multiple submitters, no conflicts-
DeletionNC_000009.12:g.(?_99105186)_(99221914_?)delTGFBR1Pathogenic9101867468101984196nanacriteria provided, single submitter-
DeletionNC_000009.12:g.(?_99137839)_(99138109_?)delTGFBR1Likely pathogenic9101900121101900391nanacriteria provided, single submitter-
DeletionNC_000015.10:g.(?_67181221)_(67181473_?)delSMAD3Pathogenic156747355967473811nanacriteria provided, single submitter-
single nucleotide variantNM_003239.5(TGFB3):c.517-1G>CTGFB3Likely pathogenic147643759976437599CGcriteria provided, single submitter-
DeletionNM_005902.4(SMAD3):c.851_864del (p.Glu284fs)SMAD3Pathogenic156747377167473784GAGCTGACACGGAGAGcriteria provided, single submitter-
IndelNM_005902.4(SMAD3):c.960_972delinsGACACC (p.Cys320fs)SMAD3Pathogenic156747715367477165TAACCAGCGCTATGACACCcriteria provided, single submitter-
single nucleotide variantNM_005902.4(SMAD3):c.1009G>T (p.Gly337Ter)SMAD3Pathogenic156747720267477202GTcriteria provided, single submitter-
DuplicationNM_005902.4(SMAD3):c.1153dup (p.Arg385fs)SMAD3Pathogenic156747984567479846CCAcriteria provided, single submitter-