Knowledge base for genomic medicine in Japanese
WAS関連疾患
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000377.3(WAS):c.257G>A (p.Arg86His)WASPathogenicX4854279648542796GAcriteria provided, multiple submitters, no conflictsClinGen:CA341003,UniProtKB:P42768#VAR_005830,OMIM:300392.0003
single nucleotide variantNM_000377.3(WAS):c.167C>T (p.Ala56Val)WASPathogenicX4854270648542706CTcriteria provided, multiple submitters, no conflictsClinGen:CA255723,UniProtKB:P42768#VAR_005827,OMIM:300392.0004
single nucleotide variantNM_000377.3(WAS):c.244T>C (p.Ser82Pro)WASLikely pathogenicX4854278348542783TCcriteria provided, single submitterClinGen:CA121359,UniProtKB:P42768#VAR_005829,OMIM:300392.0009
single nucleotide variantNM_000377.3(WAS):c.134C>T (p.Thr45Met)WASPathogenicX4854267348542673CTcriteria provided, multiple submitters, no conflictsClinGen:CA255728,UniProtKB:P42768#VAR_008106,OMIM:300392.0010
single nucleotide variantNM_000377.3(WAS):c.809T>C (p.Leu270Pro)WASPathogenic/Likely pathogenicX4854672048546720TCcriteria provided, multiple submitters, no conflictsClinGen:CA280988,UniProtKB:P42768#VAR_033256,OMIM:300392.0012
DeletionNM_000377.3(WAS):c.11del (p.Gly4fs)WASPathogenicX4854224948542249TGTcriteria provided, single submitterClinGen:CA341015,OMIM:300392.0019
single nucleotide variantNM_000377.3(WAS):c.881T>C (p.Ile294Thr)WASPathogenic/Likely pathogenicX4854679248546792TCcriteria provided, multiple submitters, no conflictsClinGen:CA281104,OMIM:300392.0025
single nucleotide variantNM_000377.3(WAS):c.310C>T (p.Gln104Ter)WASLikely pathogenicX4854397248543972CTcriteria provided, single submitterClinGen:CA342894
single nucleotide variantNM_000377.3(WAS):c.37C>T (p.Arg13Ter)WASPathogenicX4854227948542279CTcriteria provided, multiple submitters, no conflictsClinGen:CA342897
DuplicationNM_000377.3(WAS):c.763dup (p.Gln255fs)WASLikely pathogenicX4854646648546467AACcriteria provided, single submitterClinGen:CA342900