Knowledge base for genomic medicine in Japanese
フォンウィルブランド病
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000552.5(VWF):c.3675-1G>AVWFLikely pathogenic1261289106128910CTcriteria provided, single submitter-
single nucleotide variantNM_000552.5(VWF):c.1293+2T>CVWFLikely pathogenic1261743016174301AGcriteria provided, single submitter-
DeletionNM_000552.5(VWF):c.533-48_657+52delVWFLikely pathogenic1262045746204798TAGATCCAGAAATCACACACCATCCAGGTGCACCCAGGCCAGTCCACACCCACCTTCTGCATTTCCCCAGAGGAGATGTTGCATGAGCTGCTGGGAGGAGATGCCCGTTCACACCACTGTTCTCCACTGCTCAGAGCCCATGAGTTGGCAAAGTCATAAGGGTCCGAGGTCAAGGTCCCTGTGGAGGAAAGTTTCAGGAAAGTAATGCTTCAGTTATGCCTGTCCCTcriteria provided, single submitter-
DeletionNM_000552.5(VWF):c.5621-47_5842+51delVWFPathogenic1261207326121343TAAAAGCACTGCCCCTTTGACGCTGCCCTGGCTGGAGAAGCAAAGGACTCACAGGGGCAGGTCCAGCGGCAGCCACAGGTCTCTTCCACTTTAACAGGGGACTGGCTGTTAGGGCACGAAGGCCTCAGCCCCCGGTCACAGTTGACCCGATGACTCTTCAGCAAGGTCTGGCCATCTGGCTGGCAAGTCACGGTGTGGCACTGGTCTGGCAAGGTCCAGACGTCCCCGGGCTGCAGAAGAAAACAGCAGATTCAGGCAGGGAATAAGATGAGGTACTCCAACTCTAAGCCCATCTGCCAGACAACTGACCCCTAGAATTGAACACAGGCCTACACAGCAAGGAGGCCCCCTGTACATGAGACAGGAAGCAAAACACAAGATGTACAGATGGACCCGCAAAAACAAGATAATAGTAAAAGGAAGCACTGGACTAAGACCAAAGGAGGAAAAATTAACCAGTGGGAACAAGAGCCCCAAACACATCTCTAACCTTTCTTTCAAAGTCAACAGAAAGGAACTTACCCTCTTCTCATTCCCATCCTCATCCATGCAAATCCTAACAAATCCTGCAACAGACACAAATAAGACCTTAGTTCCCATCTTTCACCCAGAATcriteria provided, single submitter-
DeletionNM_000552.5(VWF):c.221-6_532+30delVWFLikely pathogenic1262195106220140TTTAGGGAAATGGTATCCCAGAACATCTTACCTTCTTGGGTCATAAAGTCATCTTCAGCAAAGATGTTAAAGTTGCCACACAGCCCGCAGGTCTTGTTGAAGTATCTGTCTGACAGCAGGACTTGAAAGTTGCCGCTGCCATCGATCCTGGCCACAAAGCCATAGGCCTCACCGGACAGCTTGTAGTACCCAGCCTCAGTTTCTAGATACAGCCCTTTGGAGGCATAGGGCATGGAGACTCTGGAGGGCAAAGGCTAAGTTCAGAAGTGGGCTTCTTGTGCATTTTCTGGATGTCTCTCCCACCTTCTAACCCCAACCCCATGTTGTAGGGTTCAGAACATGGTGCAAAGTGGCTGAGGACCTAGATCAGCAATCGGGAGAGCTGGCTCTCACCCAGCCCTGCTACTCACTTCCTTGGAACATTTGCTTCCATTCTCTGGGCCCCAGCTTCCTCATCTAAAAATGAGGGGGTTGTGTCAGGGGATCCCTAGGGTCCTTTCTAACTCAGACATTGTTGGCTTACCTTTGGTCCCCCTGTGTCACGGTACCATTGACAAACAAATGGATGTCAAAAAATTCCCCAAGATACACGGAGAGGCTCACTCTCTTGCCATTCTGGAAGTCCCCTGAAATcriteria provided, single submitter-
DeletionNM_000552.5(VWF):c.221-10_532+52delVWFPathogenic1262194886220144GAAATAAAAAGCATGGCCACACTTTAGGGAAATGGTATCCCAGAACATCTTACCTTCTTGGGTCATAAAGTCATCTTCAGCAAAGATGTTAAAGTTGCCACACAGCCCGCAGGTCTTGTTGAAGTATCTGTCTGACAGCAGGACTTGAAAGTTGCCGCTGCCATCGATCCTGGCCACAAAGCCATAGGCCTCACCGGACAGCTTGTAGTACCCAGCCTCAGTTTCTAGATACAGCCCTTTGGAGGCATAGGGCATGGAGACTCTGGAGGGCAAAGGCTAAGTTCAGAAGTGGGCTTCTTGTGCATTTTCTGGATGTCTCTCCCACCTTCTAACCCCAACCCCATGTTGTAGGGTTCAGAACATGGTGCAAAGTGGCTGAGGACCTAGATCAGCAATCGGGAGAGCTGGCTCTCACCCAGCCCTGCTACTCACTTCCTTGGAACATTTGCTTCCATTCTCTGGGCCCCAGCTTCCTCATCTAAAAATGAGGGGGTTGTGTCAGGGGATCCCTAGGGTCCTTTCTAACTCAGACATTGTTGGCTTACCTTTGGTCCCCCTGTGTCACGGTACCATTGACAAACAAATGGATGTCAAAAAATTCCCCAAGATACACGGAGAGGCTCACTCTCTTGCCATTCTGGAAGTCCCCTGAAAGAGAGcriteria provided, single submitter-
single nucleotide variantNM_000552.5(VWF):c.7056C>T (p.Gly2352=)VWFLikely pathogenic1260923416092341GAcriteria provided, single submitter-
single nucleotide variantNM_000552.5(VWF):c.2303G>A (p.Arg768Gln)VWFLikely pathogenic1261535966153596CTcriteria provided, single submitter-