Knowledge base for genomic medicine in Japanese
原発性免疫不全症候群
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.413G>C (p.Arg138Pro)WASPathogenicX4854417548544175GCcriteria provided, single submitterClinGen:CA412867848
DeletionNM_000377.3(WAS):c.852del (p.Glu285fs)WASLikely pathogenicX4854676248546762GCGcriteria provided, single submitterClinGen:CA658684301
single nucleotide variantNM_000377.3(WAS):c.290G>A (p.Trp97Ter)WASLikely pathogenicX4854395248543952GAcriteria provided, single submitterClinGen:CA412866888
single nucleotide variantNM_000377.3(WAS):c.553C>T (p.Gln185Ter)WASLikely pathogenicX4854451748544517CTcriteria provided, single submitterClinGen:CA412869529
DuplicationNM_000377.3(WAS):c.1271dup (p.Leu425fs)WASPathogenicX4854738348547384CCGcriteria provided, multiple submitters, no conflictsClinGen:CA658684302
single nucleotide variantNM_000377.3(WAS):c.271C>T (p.Gln91Ter)WASPathogenicX4854281048542810CTcriteria provided, single submitterClinGen:CA412866685
single nucleotide variantNM_000377.3(WAS):c.91G>A (p.Glu31Lys)WASPathogenic/Likely pathogenicX4854233348542333GAcriteria provided, multiple submitters, no conflictsClinGen:CA412865672
DeletionNM_000377.3(WAS):c.1001del (p.Gly334fs)WASPathogenicX4854711348547113TGTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000377.3(WAS):c.734+2T>AWASPathogenicX4854534648545346TAcriteria provided, single submitter-
single nucleotide variantNM_000377.3(WAS):c.257G>C (p.Arg86Pro)WASLikely pathogenicX4854279648542796GCcriteria provided, single submitter-