Knowledge base for genomic medicine in Japanese
カテコラミン誘発性多形性心室頻拍
循環器・内分泌疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
deletionNM_006073.4(TRDN):c.53_56del (p.Asp18fs)TRDNPathogenic6123892244123892247GCTGTGcriteria provided, single submitterOMIM Allelic Variant:603283.0001
single nucleotide variantNM_006073.4(TRDN):c.613C>T (p.Gln205Ter)TRDNPathogenic6123825044123825044GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:603283.0003
single nucleotide variantNM_000891.2(KCNJ2):c.200G>A (p.Arg67Gln)KCNJ2Pathogenic/Likely pathogenic176817138068171380GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000891.2(KCNJ2):c.211G>A (p.Asp71Asn)KCNJ2Likely pathogenic176817139168171391GAcriteria provided, single submitter-
single nucleotide variantNM_000891.2(KCNJ2):c.224C>T (p.Thr75Met)KCNJ2Pathogenic176817140468171404CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000891.2(KCNJ2):c.232G>T (p.Asp78Tyr)KCNJ2Pathogenic176817141268171412GTcriteria provided, single submitter-
single nucleotide variantNM_000891.2(KCNJ2):c.244C>T (p.Arg82Trp)KCNJ2Pathogenic176817142468171424CTcriteria provided, single submitter-
single nucleotide variantNM_000891.2(KCNJ2):c.245G>A (p.Arg82Gln)KCNJ2Pathogenic/Likely pathogenic176817142568171425GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000891.2(KCNJ2):c.431G>A (p.Gly144Asp)KCNJ2Pathogenic176817161168171611GAcriteria provided, single submitter-
single nucleotide variantNM_000891.2(KCNJ2):c.431G>C (p.Gly144Ala)KCNJ2Pathogenic176817161168171611GCcriteria provided, single submitter-