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.2T>C (p.Met1Thr)KMT2DLikely pathogenic124944910649449106AGcriteria provided, single submitterClinGen:CA16603307
DeletionNM_003482.4(KMT2D):c.49+1delKMT2DLikely pathogenic124944905849449058ACAcriteria provided, single submitter-
single nucleotide variantNM_003482.4(KMT2D):c.49+2T>AKMT2DLikely pathogenic124944905749449057ATcriteria provided, single submitterClinGen:CA384691171
single nucleotide variantNM_003482.4(KMT2D):c.50-1G>TKMT2DLikely pathogenic124944881049448810CAcriteria provided, single submitter-
single nucleotide variantNM_003482.4(KMT2D):c.70G>T (p.Glu24Ter)KMT2DLikely pathogenic124944878949448789CAcriteria provided, single submitterClinGen:CA384690933
single nucleotide variantNM_003482.4(KMT2D):c.125C>T (p.Ser42Phe)KMT2DLikely pathogenic124944873449448734GAcriteria provided, single submitterClinGen:CA384690291
DeletionNM_003482.4(KMT2D):c.133del (p.Ser45fs)KMT2DPathogenic124944872649448726CTCcriteria provided, single submitterClinGen:CA273348
DeletionNM_003482.4(KMT2D):c.177-9_178delKMT2DPathogenic124944853649448546CCACTGTGGACACcriteria provided, single submitterClinGen:CA275172
single nucleotide variantNM_003482.4(KMT2D):c.256G>T (p.Glu86Ter)KMT2DPathogenic124944845549448455CAcriteria provided, single submitterClinGen:CA271622
DuplicationNM_003482.4(KMT2D):c.303dup (p.Ser102fs)KMT2DPathogenic124944840749448408TTCcriteria provided, multiple submitters, no conflictsClinGen:CA658658153