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.269G>T (p.Cys90Phe)ACVRL1Pathogenic/Likely pathogenic125230709052307090GTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter)ACVRL1Pathogenic/Likely pathogenic125230709152307091CAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000020.3(ACVRL1):c.651G>A (p.Trp217Ter)ACVRL1Pathogenic125230824852308248GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000020.3(ACVRL1):c.655G>C (p.Gly219Arg)ACVRL1Pathogenic125230825252308252GCcriteria provided, single submitter-
single nucleotide variantNM_000020.3(ACVRL1):c.685A>G (p.Lys229Glu)ACVRL1Pathogenic125230828252308282AGcriteria provided, single submitter-
single nucleotide variantNM_000020.3(ACVRL1):c.1025T>C (p.Leu342Pro)ACVRL1Likely pathogenic125230926152309261TCcriteria provided, single submitter-
single nucleotide variantNM_000020.3(ACVRL1):c.1030T>C (p.Cys344Arg)ACVRL1Pathogenic/Likely pathogenic125230926652309266TCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000020.3(ACVRL1):c.1031G>T (p.Cys344Phe)ACVRL1Pathogenic125230926752309267GTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000020.3(ACVRL1):c.1046T>C (p.Leu349Pro)ACVRL1Pathogenic/Likely pathogenic125230928252309282TCcriteria provided, multiple submitters, no conflicts-
IndelNM_000020.3(ACVRL1):c.1188_1189delinsAA (p.Asp397Asn)ACVRL1Likely pathogenic125230995952309960TGAAcriteria provided, single submitter-