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)
indelNM_003482.3(KMT2D):c.10623_10629delTCTGTGTinsCGCAAGTCACG (p.Leu3542Alafs)KMT2DPathogenic124942796149427967ACACAGACGTGACTTGCGcriteria provided, single submitter-
single nucleotide variantNM_003482.3(KMT2D):c.10740G>A (p.Gln3580=)KMT2DLikely pathogenic124942785049427850CTcriteria provided, single submitter-
single nucleotide variantNM_003482.3(KMT2D):c.10819C>T (p.Gln3607Ter)KMT2DPathogenic124942766949427669GAcriteria provided, single submitter-
single nucleotide variantNM_003482.3(KMT2D):c.10834C>T (p.Gln3612Ter)KMT2DPathogenic124942765449427654GAcriteria provided, single submitter-
single nucleotide variantNM_003482.3(KMT2D):c.11149C>T (p.Gln3717Ter)KMT2DPathogenic124942733949427339GAcriteria provided, single submitterHGMD:CM105473
deletionNM_003482.3(KMT2D):c.11201_11202delTG (p.Leu3734Profs)KMT2DPathogenic124942728649427287CA-criteria provided, single submitter-
single nucleotide variantNM_003482.3(KMT2D):c.11692C>T (p.Gln3898Ter)KMT2DPathogenic/Likely pathogenic124942679649426796GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_003482.3(KMT2D):c.12406C>T (p.Gln4136Ter)KMT2DPathogenic124942608249426082GAcriteria provided, single submitter-
single nucleotide variantNM_003482.3(KMT2D):c.12430C>T (p.Gln4144Ter)KMT2DPathogenic124942605849426058GAcriteria provided, single submitter-
duplicationNM_003482.3(KMT2D):c.1300dupC (p.Leu434Profs)KMT2DPathogenic124944616649446166GGGcriteria provided, single submitter-