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)
DuplicationNM_000552.5(VWF):c.50dup (p.Leu17fs)VWFPathogenic/Likely pathogenic1262323126232313CCAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000552.5(VWF):c.55G>A (p.Gly19Arg)VWFLikely pathogenic1262323086232308CTcriteria provided, single submitterClinGen:CA228729
DuplicationNM_000552.5(VWF):c.276dup (p.Asp93Ter)VWFPathogenic1262200786220079CCAcriteria provided, single submitterClinGen:CA228364
DeletionNM_000552.5(VWF):c.374_387del (p.Gly125fs)VWFLikely pathogenic1262196856219698ACAGCTTGTAGTACCAcriteria provided, single submitterClinGen:CA228439
single nucleotide variantNM_000552.5(VWF):c.421G>A (p.Asp141Asn)VWFPathogenic/Likely pathogenic1262196516219651CTcriteria provided, multiple submitters, no conflictsClinGen:CA228557
single nucleotide variantNM_000552.5(VWF):c.449T>C (p.Leu150Pro)VWFLikely pathogenic1262196236219623AGcriteria provided, single submitterClinGen:CA228603
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-
DeletionNM_000552.5(VWF):c.533-48_657+52delVWFLikely pathogenic1262045746204798TAGATCCAGAAATCACACACCATCCAGGTGCACCCAGGCCAGTCCACACCCACCTTCTGCATTTCCCCAGAGGAGATGTTGCATGAGCTGCTGGGAGGAGATGCCCGTTCACACCACTGTTCTCCACTGCTCAGAGCCCATGAGTTGGCAAAGTCATAAGGGTCCGAGGTCAAGGTCCCTGTGGAGGAAAGTTTCAGGAAAGTAATGCTTCAGTTATGCCTGTCCCTcriteria provided, single submitter-
DeletionNM_000552.5(VWF):c.788_811del (p.Cys263_Glu270del)VWFLikely pathogenic1261845646184587TACTCCAGGAGGGCAGGGCAGGCGCTcriteria provided, single submitterClinGen:CA228817