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)
insertionNM_005359.5(SMAD4):c.731_732insGCCC(p.Gln245Profs)SMAD4Pathogenic184858455848584559GGCCGCcriteria provided, single submitter-
single nucleotide variantNM_005359.6(SMAD4):c.989A>G (p.Glu330Gly)SMAD4Likely pathogenic184859182648591826AGcriteria provided, single submitterUniProtKB (protein):Q13485#VAR_022833,UniProtKB (variants):VAR_022833
deletionNM_005359.6(SMAD4):c.1037del (p.Pro346fs)SMAD4Pathogenic184859187248591872GCGcriteria provided, single submitter-
single nucleotide variantNM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg)SMAD4Pathogenic184859189148591891GAcriteria provided, single submitterOMIM Allelic Variant:600993.0011,UniProtKB (protein):Q13485#VAR_019571,UniProtKB (variants):VAR_019571
single nucleotide variantNM_005359.6(SMAD4):c.1081C>G (p.Arg361Gly)SMAD4Likely pathogenic184859191848591918CGcriteria provided, single submitter-
single nucleotide variantNM_005359.6(SMAD4):c.1082G>A (p.Arg361His)SMAD4Pathogenic184859191948591919GAcriteria provided, multiple submitters, no conflictsUniProtKB (protein):Q13485#VAR_036477
deletionNM_005359.6(SMAD4):c.1242del (p.Asp415fs)SMAD4Pathogenic184859349148593491TATcriteria provided, single submitter-
single nucleotide variantNM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter)SMAD4Pathogenic184860303248603032CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:600993.0014
deletionNM_005359.6(SMAD4):c.1361_1364del (p.Ala454fs)SMAD4Pathogenic184860306048603063GCACAGcriteria provided, single submitter-
single nucleotide variantNM_005359.6(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