Knowledge base for genomic medicine in Japanese
遺伝性出血性末梢血管拡張症 (オスラー病)
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000020.3(ACVRL1):c.1232G>C (p.Arg411Pro)ACVRL1Pathogenic125231000352310003GCcriteria provided, single submitterClinGen:CA119413,UniProtKB:P37023#VAR_026808,OMIM:601284.0015
single nucleotide variantNM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys)SMAD4Pathogenic184859191848591918CTcriteria provided, multiple submitters, no conflictsClinGen:CA128095,UniProtKB:Q13485#VAR_019572,UniProtKB/Swiss-Prot:VAR_019572,OMIM:600993.0008
single nucleotide variantNM_001114753.3(ENG):c.360+4A>GENGLikely pathogenic9130591962130591962TCcriteria provided, multiple submitters, no conflictsOMIM:131195.0004
single nucleotide variantNM_001114753.3(ENG):c.2T>C (p.Met1Thr)ENGPathogenic9130616633130616633AGcriteria provided, single submitterClinGen:CA257569,OMIM:131195.0006
single nucleotide variantNM_001114753.3(ENG):c.360C>A (p.Tyr120Ter)ENGPathogenic9130591966130591966GTcriteria provided, multiple submitters, no conflictsClinGen:CA257574,OMIM:131195.0009
single nucleotide variantNM_005359.6(SMAD4):c.1162C>T (p.Gln388Ter)SMAD4Pathogenic184859341148593411CTcriteria provided, single submitterClinGen:CA342589
single nucleotide variantNM_005359.6(SMAD4):c.403C>T (p.Arg135Ter)SMAD4Pathogenic184857520948575209CTcriteria provided, multiple submitters, no conflictsClinGen:CA259169
single nucleotide variantNM_005359.6(SMAD4):c.533C>G (p.Ser178Ter)SMAD4Pathogenic/Likely pathogenic184858122948581229CGcriteria provided, multiple submitters, no conflictsClinGen:CA259180
single nucleotide variantNM_005359.6(SMAD4):c.538C>T (p.Gln180Ter)SMAD4Pathogenic184858123448581234CTcriteria provided, single submitter-
DuplicationNM_005359.6(SMAD4):c.692dup (p.Ser232fs)SMAD4Pathogenic184858451348584514TTGcriteria provided, multiple submitters, no conflictsClinGen:CA259187,OMIM:600993.0007