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.355G>T (p.Gly119Ter)WASPathogenicX4854401748544017GTcriteria provided, single submitter-
DeletionNM_000377.3(WAS):c.470_471del (p.Arg157fs)WASPathogenicX4854434048544341ACGAcriteria provided, single submitter-
single nucleotide variantNM_000377.3(WAS):c.631C>T (p.Arg211Ter)WASPathogenicX4854524148545241CTcriteria provided, multiple submitters, no conflicts-
DeletionNM_000377.3(WAS):c.660_664del (p.Ser221_Pro222insTer)WASPathogenicX4854526848545272ACCTAGAcriteria provided, single submitter-
IndelNM_000377.3(WAS):c.803delinsTT (p.Arg268fs)WASPathogenicX4854671448546714GTTcriteria provided, single submitter-
DeletionNM_000377.3(WAS):c.858del (p.Ser287fs)WASPathogenicX4854676848546768ACAcriteria provided, single submitter-
DeletionNM_000377.3(WAS):c.-37_132+35delWASPathogenicX4854220448542407ACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCAcriteria provided, single submitter-