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.173C>A (p.Pro58His)WASLikely pathogenicX4854271248542712CAcriteria provided, single submitterClinGen:CA16621416
single nucleotide variantNM_000377.3(WAS):c.249C>A (p.Tyr83Ter)WASPathogenicX4854278848542788CAcriteria provided, single submitterClinGen:CA16621417
single nucleotide variantNM_000377.3(WAS):c.273+1G>AWASPathogenicX4854281348542813GAcriteria provided, single submitterClinGen:CA16621418
DuplicationNM_000377.3(WAS):c.1219_1235dup (p.Pro413fs)WASPathogenicX4854733348547334TTCCGGGAATGGACCAGCCcriteria provided, single submitterClinGen:CA16621419
single nucleotide variantNM_000377.3(WAS):c.1453G>A (p.Asp485Asn)WASPathogenicX4854782348547823GAcriteria provided, multiple submitters, no conflictsClinGen:CA16621420
DeletionNM_000377.3(WAS):c.390del (p.Asp130fs)WASPathogenicX4854415248544152ACAcriteria provided, single submitterClinGen:CA645294129
IndelNM_000377.3(WAS):c.160_164delinsAACCTGGCGCTGCCCCC (p.Tyr54_Leu55delinsAsnLeuAlaLeuProPro)WASLikely pathogenicX4854269948542703TACCTAACCTGGCGCTGCCCCCcriteria provided, single submitterClinGen:CA658658984
single nucleotide variantNM_000377.3(WAS):c.778-6G>AWASPathogenicX4854668348546683GAcriteria provided, multiple submitters, no conflictsClinGen:CA658658985
single nucleotide variantNM_000377.3(WAS):c.961C>T (p.Arg321Ter)WASPathogenicX4854707848547078CTcriteria provided, multiple submitters, no conflictsClinGen:CA412872755
DeletionNM_000377.3(WAS):c.1058del (p.Pro353fs)WASPathogenicX4854717148547171ACAcriteria provided, multiple submitters, no conflictsClinGen:CA516356341