Knowledge base for genomic medicine in Japanese
ポイツ・イェガース症候群
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNM_000455.4(STK11):c.-1115_*16+?delSTK11Pathogenic1912057981226662nanacriteria provided, single submitter-
DeletionNC_000019.10:g.(?_1206904)_(1226657_?)delSTK11Pathogenic1912069031226656nanacriteria provided, single submitter-
DeletionNC_000019.9:g.(?_852323)_(1226652_?)delSTK11Pathogenic198523231226652nanacriteria provided, single submitter-
DeletionNC_000019.10:g.(?_1206908)_(1226652_?)delSTK11Pathogenic1912069071226651nanacriteria provided, single submitter-
DeletionNM_000455.5(STK11):c.1097_1108+1232delSTK11Pathogenic1912231581224401ACTTCACGGTGCCCGGTGAGTCTGGCGGGGGCCCCTGCCCGGCTCTGCTGACTCGGCCAGGATGTCCCACGGGAGCAGGGTGCCTGCCTGTCTGCAACAAGGACAGCTTCTGCCCTCTGGTGGCCAATCCCACGTCCCCAAAGCCTCCAGCCCACCTGCAGGCTGCCTCCGCCCTGCGGGCCGCTGGGACATGGCTGAAAGGTGTGGGGTCAGCGGGGGCACCAGCCCAGGCCTGTCTGGCCAGGAGGGTTCCTCAGGCGTCTCTCCGGGTGCTGCCCAGCCAGGCACCACCCACCGGCCTTGGCCTGAGTCCCAGCAGGAGCAGGCGGGGGAGCCCCAGGGTCGGGGGAGGGTAGGTGAGAGTCAGGGTGCAGGGTGGCCCCTCAGACAGCTGGCATGAGAGAGGGTCCAGTGGCCCTCCCTCCCGTCGTCCCTGAGGCCTGCCCGCTGGCCCTGATGCCGGCCGCCCTTCTTCCCTAGGTGGCGAGGAGGCGTCTGAGGCAGGGCTTAGAGCGGAGCGCGGCTTGCAGAAGAGCGAGGGCTCAGACCTTTCAGGAGAGGAAGCCTCTCGGCCGGCGCCGCAGTAGTGCCTGAGGAGGAGCTCAGGGCCTTAGCGTAGGGGCGGCCCACATTGGCAGCCAGCCCCTCCCCGCCATGCTCCCGGCTTGGCTGTGTTCGGCCCAGGGCTGGGCCGTGTCATAAAGAGTTTTGCAGTGTATCTGCAGGGTGGATGCTTGCTGCGCTCGGGCTGGAGCCTGAGGGGGCTTTCTGCTTTACTGTTTCAGCGGGAAGTGGTGGGCAGGGGCCGGCCTGAGAAGGGGGGTACGCCAGGCAGGTTGGGATGTGAGGACCCAGTGCACAGGGTCCACCCCCGGGCCCGAGGGTCCCAGAATAGTGGGGGCCCTGCAGAGAGCCCCCCATTAGGTCCCTCAGCACTCCTGGGCCCCTCATCAAACCCCTAGGCTCAGCTCAGTAGCTGGTCCCCAGGAGAGTACAGTGTGGGGGCCCCCGAGAGCACAGTGTATGGGGGTCCCCGGGGGGTACAGTGTCTGGGGGCCCCCCAGGAGGATGCAGCATGTGGGGGCCCCCCAGGAGGGTACAGCGTGTGTGGGGCCCCCAGGATCACAGGGTCTCAGCTCCTGGGCTCTTGGATTTGCAGCACCACGACCATCGCGTCTGGTCTGTTGGAACGGGAGGTGCTGCTGGGTACCCTGGTCACTAGGGTGTGCTGGGAGGTGGGGGCCCAcriteria provided, single submitterClinGen:CA658799095
DeletionNC_000019.10:g.(?_1218417)_(1223172_?)delSTK11Pathogenic1912184161223171nanacriteria provided, single submitter-
DeletionNM_000455.5(STK11):c.989_996del (p.Asp330fs)STK11Pathogenic1912230501223057AGGACCGGTAcriteria provided, single submitterClinGen:CA16616228
DuplicationNM_000455.5(STK11):c.988dup (p.Asp330fs)STK11Pathogenic1912230491223050AAGcriteria provided, single submitterClinGen:CA273378
DuplicationNM_000455.5(STK11):c.965dup (p.Pro324fs)STK11Pathogenic1912230271223028AATcriteria provided, single submitter-
DeletionNM_000455.5(STK11):c.964del (p.Ile322fs)STK11Pathogenic1912230271223027CACcriteria provided, single submitter-