Knowledge base for genomic medicine in Japanese
肥大型心筋症
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)
DeletionNM_000256.3(MYBPC3):c.1652_1656del (p.Ile551fs)MYBPC3Likely pathogenic114736367647363680CTGCGACcriteria provided, single submitter-
DeletionNM_000256.3(MYBPC3):c.1595del (p.Gly532fs)MYBPC3Pathogenic114736415847364158GCGcriteria provided, multiple submitters, no conflictsClinGen:CA010697
DuplicationNM_000256.3(MYBPC3):c.1577_1580dup (p.Cys528fs)MYBPC3Pathogenic114736417247364173CCAGTGcriteria provided, single submitterClinGen:CA296492
single nucleotide variantNM_000256.3(MYBPC3):c.1522C>T (p.Gln508Ter)MYBPC3Pathogenic114736423147364231GAcriteria provided, multiple submitters, no conflictsClinGen:CA010566
single nucleotide variantNM_000256.3(MYBPC3):c.1457G>A (p.Trp486Ter)MYBPC3Pathogenic114736438147364381CTcriteria provided, multiple submitters, no conflictsClinGen:CA010361
single nucleotide variantNM_000256.3(MYBPC3):c.1447C>T (p.Gln483Ter)MYBPC3Pathogenic114736439147364391GAcriteria provided, multiple submitters, no conflicts-
DeletionNM_000256.3(MYBPC3):c.1410_1411del (p.Val471fs)MYBPC3Pathogenic114736442747364428ACCAcriteria provided, single submitterClinGen:CA010266
single nucleotide variantNM_000256.3(MYBPC3):c.1405C>T (p.Gln469Ter)MYBPC3Pathogenic114736443347364433GAcriteria provided, multiple submitters, no conflictsClinGen:CA010259
single nucleotide variantNM_000256.3(MYBPC3):c.1387C>T (p.Gln463Ter)MYBPC3Pathogenic114736445147364451GAcriteria provided, multiple submitters, no conflictsClinGen:CA010230
DuplicationNM_000256.3(MYBPC3):c.1358dup (p.Val454fs)MYBPC3Pathogenic/Likely pathogenic114736447947364480AAGcriteria provided, multiple submitters, no conflictsClinGen:CA279328