Knowledge base for genomic medicine in Japanese
ウィルムス腫瘍
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_024426.6(WT1):c.1447+4C>TWT1Pathogenic/Likely pathogenic113241351432413514GAcriteria provided, multiple submitters, no conflictsClinGen:CA016600,OMIM:607102.0018
single nucleotide variantNM_024426.6(WT1):c.1315C>T (p.Arg439Cys)WT1Pathogenic113241425132414251GAcriteria provided, multiple submitters, no conflictsClinGen:CA016279,OMIM:607102.0026
DeletionNM_000059.4(BRCA2):c.7004_7007+2delBRCA2Pathogenic133292102932921034CTTTCGGCcriteria provided, multiple submitters, no conflictsClinGen:CA325946,OMIM:600185.0001
DeletionNM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)BRCA2Pathogenic133291476732914768CTTCreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA2):6503&base_change=del TT,ClinGen:CA023808,OMIM:600185.0002
DeletionNM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs)BRCA2Pathogenic133291508332915084CTGCreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA2):6819&base_change=del TG,ClinGen:CA024193,OMIM:600185.0003
DeletionNM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)BRCA2Pathogenic133291129832911301TAAACTreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA2):3034&base_change=del AAAC,Breast Cancer Information Core (BIC) (BRCA2):3036&base_change=del ACAA,ClinGen:CA016424,OMIM:600185.0006,OMIM:600185.0016
DeletionNM_000059.4(BRCA2):c.5946del (p.Ser1982fs)BRCA2Pathogenic133291443832914438GTGreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA2):6174&base_change=del T,ClinGen:CA023403,OMIM:600185.0005,OMIM:600185.0009
DeletionNM_000059.4(BRCA2):c.771_775del (p.Asn257fs)BRCA2Pathogenic133290514132905145ACAAATAreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA2):995&base_change=del CAAAT,Breast Cancer Information Core (BIC) (BRCA2):999&base_change=del TCAAA,ClinGen:CA025222,OMIM:600185.0010
single nucleotide variantNM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg)BRCA2Pathogenic133293750432937504CGreviewed by expert panelClinGen:CA025480,OMIM:600185.0025
DeletionNM_000059.4(BRCA2):c.658_659del (p.Val220fs)BRCA2Pathogenic133290360532903606CTGCreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA2):886&base_change=del GT,ClinGen:CA024188,OMIM:600185.0027