Knowledge base for genomic medicine in Japanese
先天性QT延長症候群
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000238.4(KCNH2):c.31C>T (p.Gln11Ter)KCNH2Pathogenic7150674971150674971GAcriteria provided, multiple submitters, no conflictsClinGen:CA008102
DeletionNM_000238.4(KCNH2):c.46del (p.Asp16fs)KCNH2Pathogenic7150674956150674956TCTcriteria provided, single submitter-
DuplicationNM_000238.4(KCNH2):c.66dup (p.Glu23Ter)KCNH2Pathogenic/Likely pathogenic7150674935150674936CCAcriteria provided, multiple submitters, no conflictsClinGen:CA658797054
single nucleotide variantNM_000238.4(KCNH2):c.76+2T>GKCNH2Pathogenic7150674924150674924ACcriteria provided, single submitterClinGen:CA008788
single nucleotide variantNM_000238.4(KCNH2):c.77-1G>AKCNH2Likely pathogenic7150672030150672030CTcriteria provided, multiple submitters, no conflictsClinGen:CA008799
DuplicationNM_000238.4(KCNH2):c.81dup (p.Lys28Ter)KCNH2Pathogenic7150672024150672025TTAcriteria provided, multiple submitters, no conflictsClinGen:CA305341
DeletionNM_000238.4(KCNH2):c.84del (p.Lys28fs)KCNH2Pathogenic7150672022150672022ACAcriteria provided, single submitter-
single nucleotide variantNM_000238.4(KCNH2):c.87C>A (p.Phe29Leu)KCNH2Pathogenic7150672019150672019GTcriteria provided, single submitterClinGen:CA008941,UniProtKB:Q12809#VAR_008907
single nucleotide variantNM_000238.4(KCNH2):c.92T>A (p.Ile31Asn)KCNH2Likely pathogenic7150672014150672014ATcriteria provided, single submitterClinGen:CA369865998
single nucleotide variantNM_000238.4(KCNH2):c.92T>C (p.Ile31Thr)KCNH2Likely pathogenic7150672014150672014AGcriteria provided, single submitterClinGen:CA008995