Knowledge base for genomic medicine in Japanese
歌舞伎症候群
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_003482.4(KMT2D):c.6496C>T (p.Gln2166Ter)KMT2DPathogenic124943505749435057GAcriteria provided, single submitter-
single nucleotide variantNM_003482.4(KMT2D):c.6114G>A (p.Trp2038Ter)KMT2DPathogenic124943576949435769CTcriteria provided, single submitter-
DuplicationNM_003482.4(KMT2D):c.5199_5206dup (p.Pro1736fs)KMT2DPathogenic124943776349437764GGGCAGGTCAcriteria provided, single submitter-
DeletionNM_003482.4(KMT2D):c.4525_4528del (p.Ile1509fs)KMT2DPathogenic124944009849440101CAGATCcriteria provided, multiple submitters, no conflicts-
DeletionNM_003482.4(KMT2D):c.4400del (p.Gly1467fs)KMT2DPathogenic124944041049440410GCGcriteria provided, single submitter-
single nucleotide variantNM_003482.4(KMT2D):c.3788C>G (p.Ser1263Ter)KMT2DPathogenic124944358349443583GCcriteria provided, single submitter-
DeletionNM_003482.4(KMT2D):c.1825del (p.Ser609fs)KMT2DPathogenic124944564149445641GAGcriteria provided, single submitter-
single nucleotide variantNM_003482.4(KMT2D):c.1529C>G (p.Ser510Ter)KMT2DPathogenic124944593749445937GCcriteria provided, single submitter-
DeletionNM_003482.4(KMT2D):c.1468_1471del (p.Glu490fs)KMT2DPathogenic124944599549445998TCCTCTcriteria provided, single submitter-
DeletionNM_003482.4(KMT2D):c.713del (p.Leu238fs)KMT2DPathogenic124944738549447385CACcriteria provided, single submitter-