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)
deletionNM_005359.5(SMAD4):c.430_431delTC (p.Ser144Argfs)SMAD4Pathogenic184857567048575671TC-criteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_005359.5(SMAD4):c.533C>G (p.Ser178Ter)SMAD4Pathogenic184858122948581229CGcriteria provided, single submitter-
duplicationNM_005359.5(SMAD4):c.692dupG (p.Ser232Glnfs)SMAD4Pathogenic184858451948584519GGGcriteria provided, single submitter-
insertionNM_005359.5(SMAD4):c.731_732insGCCC(p.Gln245Profs)SMAD4Pathogenic184858455848584559-GCCCcriteria provided, single submitter-
single nucleotide variantNM_005359.5(SMAD4):c.989A>G (p.Glu330Gly)SMAD4Likely pathogenic184859182648591826AGcriteria provided, single submitterUniProtKB (protein):Q13485#VAR_022833,UniProtKB (variants):VAR_022833
deletionNM_005359.5(SMAD4):c.1037delC (p.Pro346Leufs)SMAD4Pathogenic184859187448591874C-criteria provided, single submitter-
single nucleotide variantNM_005359.5(SMAD4):c.1081C>G (p.Arg361Gly)SMAD4Likely pathogenic184859191848591918CGcriteria provided, single submitter-
single nucleotide variantNM_005359.5(SMAD4):c.1082G>A (p.Arg361His)SMAD4Pathogenic184859191948591919GAcriteria provided, multiple submitters, no conflictsUniProtKB (protein):Q13485#VAR_036477
single nucleotide variantNM_005359.5(SMAD4):c.1333C>T (p.Arg445Ter)SMAD4Pathogenic184860303248603032CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:600993.0014
single nucleotide variantNM_005359.5(SMAD4):c.1499T>C (p.Ile500Thr)SMAD4Pathogenic184860467748604677TCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:600993.0015,UniProtKB (protein):Q13485#VAR_067603,UniProtKB (variants):VAR_067603