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_003482.4(KMT2D):c.16306_16322delinsC (p.Ala5436fs)KMT2DPathogenic124941638949416405TTCTCCCGCCGGTTGGCGcriteria provided, single submitterClinGen:CA222046
single nucleotide variantNM_003482.4(KMT2D):c.3532C>T (p.Gln1178Ter)KMT2DPathogenic124944383949443839GAcriteria provided, single submitterClinGen:CA222068
DeletionNM_003482.4(KMT2D):c.3834_3846del (p.Ile1279fs)KMT2DPathogenic124944352549443537TGCCTCCGCTGATATcriteria provided, single submitterClinGen:CA222072
DeletionNM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs)KMT2DPathogenic/Likely pathogenic124944184849441849CATCcriteria provided, multiple submitters, no conflictsClinGen:CA222075
single nucleotide variantNM_003482.4(KMT2D):c.5645-2A>GKMT2DPathogenic124943666349436663TCcriteria provided, single submitterClinGen:CA222090
DeletionNM_003482.4(KMT2D):c.5908_5915del (p.Asp1970fs)KMT2DPathogenic124943606649436073GGGGCTGTCGcriteria provided, single submitterClinGen:CA222091
DeletionNM_003482.4(KMT2D):c.6595del (p.Tyr2199fs)KMT2DPathogenic124943495849434958TATcriteria provided, multiple submitters, no conflictsClinGen:CA222100
single nucleotide variantNM_003482.4(KMT2D):c.7066C>T (p.Gln2356Ter)KMT2DPathogenic124943448749434487GAcriteria provided, single submitterClinGen:CA222105
DeletionNM_003482.4(KMT2D):c.7140del (p.Gln2380fs)KMT2DPathogenic124943441349434413GCGcriteria provided, single submitterClinGen:CA222107
DeletionNM_003482.4(KMT2D):c.5166del (p.Ser1722fs)KMT2DLikely pathogenic124943800549438005CACcriteria provided, single submitterClinGen:CA232415