Knowledge base for genomic medicine in Japanese
肺動脈性肺高血圧症
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_001204.7(BMPR2):c.2752C>T (p.Gln918Ter)BMPR2Pathogenic2203421140203421140CTcriteria provided, single submitterClinGen:CA350349629
single nucleotide variantNM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter)BMPR2Pathogenic2203421083203421083CTcriteria provided, multiple submitters, no conflictsClinGen:CA278069,OMIM:600799.0002
single nucleotide variantNM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter)BMPR2Pathogenic/Likely pathogenic2203421005203421005CTcriteria provided, multiple submitters, no conflictsClinGen:CA278086,OMIM:600799.0012
DeletionNM_001204.7(BMPR2):c.2580del (p.Asn861fs)BMPR2Pathogenic2203420967203420967ATAcriteria provided, multiple submitters, no conflictsClinGen:CA645293960,OMIM:600799.0001
DeletionNM_001204.7(BMPR2):c.2216del (p.Pro739fs)BMPR2Pathogenic2203420603203420603GCGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001204.7(BMPR2):c.1789C>T (p.Arg597Ter)BMPR2Pathogenic2203420177203420177CTcriteria provided, single submitterClinGen:CA10588330
single nucleotide variantNM_001204.7(BMPR2):c.1771C>T (p.Arg591Ter)BMPR2Pathogenic/Likely pathogenic2203420159203420159CTcriteria provided, multiple submitters, no conflictsClinGen:CA2061449
single nucleotide variantNM_001204.7(BMPR2):c.1750C>T (p.Arg584Ter)BMPR2Pathogenic2203420138203420138CTcriteria provided, single submitterClinGen:CA350346158
DeletionNM_001204.7(BMPR2):c.1536del (p.Lys512fs)BMPR2Pathogenic2203417559203417559CACcriteria provided, single submitter-
single nucleotide variantNM_001204.7(BMPR2):c.1525G>T (p.Glu509Ter)BMPR2Pathogenic2203417550203417550GTcriteria provided, single submitterClinGen:CA350344812