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
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_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)SMAD4Pathogenic/Likely pathogenic184860466448604664CTcriteria provided, multiple submitters, no conflicts-
deletionNM_005359.5(SMAD4):c.1351_1375del25 (p.Ala451Leufs)SMAD4Pathogenic184860304348603067AGCAGCAGGCGGCTACTGCACAAGCTAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_005359.6(SMAD4):c.1345C>T (p.Gln449Ter)SMAD4Pathogenic184860304448603044CTcriteria provided, single submitter-
single nucleotide variantNM_005359.6(SMAD4):c.1308+1G>TSMAD4Likely pathogenic184859355848593558GTcriteria provided, single submitter-
deletionNM_005359.5(SMAD4):c.1245_1248delCAGA (p.Asp415Glufs)SMAD4Pathogenic184859349148593494TAGACTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001077401.2(ACVRL1):c.1232G>A (p.Arg411Gln)ACVRL1Pathogenic125231000352310003GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:601284.0001,UniProtKB (protein):P37023#VAR_006213
single nucleotide variantNM_000020.2(ACVRL1):c.150G>T (p.Trp50Cys)ACVRL1Pathogenic125230697152306971GTcriteria provided, single submitterOMIM Allelic Variant:601284.0004,UniProtKB (protein):P37023#VAR_006204
single nucleotide variantNM_000020.2(ACVRL1):c.1120C>T (p.Arg374Trp)ACVRL1Pathogenic125230989152309891CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:601284.0007,UniProtKB (protein):P37023#VAR_006211
deletionNM_000020.2(ACVRL1):c.760_762del (p.Asp254del)ACVRL1Pathogenic125230835552308357CACGCcriteria provided, single submitterOMIM Allelic Variant:601284.0008
single nucleotide variantNM_000020.2(ACVRL1):c.1231C>T (p.Arg411Trp)ACVRL1Pathogenic125231000252310002CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:601284.0009,UniProtKB (protein):P37023#VAR_026809