Knowledge base for genomic medicine in Japanese
ウィルムス腫瘍
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_024426.6(WT1):c.965+1G>AWT1Pathogenic/Likely pathogenic113243912232439122CTcriteria provided, multiple submitters, no conflicts-
DeletionNC_000011.10:g.(?_32389048)_(32435355_?)delWT1Pathogenic113241059432456901nanacriteria provided, single submitter-
single nucleotide variantNM_024426.6(WT1):c.882C>A (p.Tyr294Ter)WT1Pathogenic113244950732449507GTcriteria provided, single submitter-
single nucleotide variantNM_024426.6(WT1):c.1499G>A (p.Arg500Gln)WT1Pathogenic113241067432410674CTcriteria provided, single submitter-
single nucleotide variantNM_024426.6(WT1):c.1421A>C (p.His474Pro)WT1Likely pathogenic113241354432413544TGcriteria provided, single submitter-
single nucleotide variantNM_024426.6(WT1):c.472G>T (p.Glu158Ter)WT1Pathogenic113245643532456435CAcriteria provided, single submitter-
DeletionNM_024426.6(WT1):c.653del (p.Arg218fs)WT1Pathogenic113245625432456254GCGcriteria provided, single submitter-
single nucleotide variantNM_024426.6(WT1):c.1405G>T (p.Asp469Tyr)WT1Pathogenic/Likely pathogenic113241356032413560CAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_024426.6(WT1):c.478C>T (p.Gln160Ter)WT1Pathogenic113245642932456429GAcriteria provided, single submitterClinGen:CA379964944
DeletionNM_024426.6(WT1):c.1149del (p.Val384fs)WT1Pathogenic113241791832417918CACcriteria provided, single submitterClinGen:CA658797607