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>A (p.Arg411Gln)ACVRL1Pathogenic/Likely pathogenic125231000352310003GAcriteria provided, multiple submitters, no conflictsClinGen:CA119395,UniProtKB:P37023#VAR_006213,OMIM:601284.0001
single nucleotide variantNM_000020.3(ACVRL1):c.1127T>G (p.Met376Arg)ACVRL1Pathogenic125230989852309898TGcriteria provided, single submitterClinGen:CA254367,UniProtKB:P37023#VAR_006212,OMIM:601284.0002
single nucleotide variantNM_000020.3(ACVRL1):c.150G>T (p.Trp50Cys)ACVRL1Pathogenic125230697152306971GTcriteria provided, multiple submitters, no conflictsClinGen:CA254373,UniProtKB:P37023#VAR_006204,OMIM:601284.0004
single nucleotide variantNM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)ACVRL1Pathogenic/Likely pathogenic125230989152309891CTcriteria provided, multiple submitters, no conflictsClinGen:CA119397,UniProtKB:P37023#VAR_006211,OMIM:601284.0007
DeletionNM_000020.3(ACVRL1):c.760_762del (p.Asp254del)ACVRL1Pathogenic/Likely pathogenic125230835552308357CACGCcriteria provided, multiple submitters, no conflictsClinGen:CA119399,OMIM:601284.0008
single nucleotide variantNM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp)ACVRL1Pathogenic/Likely pathogenic125231000252310002CTcriteria provided, multiple submitters, no conflictsClinGen:CA119402,UniProtKB:P37023#VAR_026809,OMIM:601284.0009
single nucleotide variantNM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp)ACVRL1Pathogenic125231461552314615CTcriteria provided, multiple submitters, no conflictsClinGen:CA119404,UniProtKB:P37023#VAR_026815,OMIM:601284.0010
single nucleotide variantNM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp)ACVRL1Pathogenic/Likely pathogenic125230822952308229GAcriteria provided, multiple submitters, no conflictsClinGen:CA119406,UniProtKB:P37023#VAR_026788,OMIM:601284.0011
single nucleotide variantNM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr)ACVRL1Pathogenic125230926752309267GAcriteria provided, multiple submitters, no conflictsClinGen:CA119408,UniProtKB:P37023#VAR_026798,OMIM:601284.0012
single nucleotide variantNM_000020.3(ACVRL1):c.1196G>C (p.Trp399Ser)ACVRL1Likely pathogenic125230996752309967GCcriteria provided, single submitterClinGen:CA119410,UniProtKB:P37023#VAR_026806,OMIM:601284.0013