Knowledge base for genomic medicine in Japanese
リンチ症候群
腫瘍性疾患
Excelでダウンロード
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
InsertionNM_000179.3(MSH6):c.1039_1040insC (p.Glu347fs)MSH6Pathogenic24802616148026162GGCcriteria provided, multiple submitters, no conflictsClinGen:CA658795736
DeletionNM_000179.3(MSH6):c.1569_1570del (p.Tyr524fs)MSH6Pathogenic24802669148026692CTTCcriteria provided, single submitterClinGen:CA658795753
single nucleotide variantNM_000179.3(MSH6):c.461C>G (p.Ser154Ter)MSH6Pathogenic24802303648023036CGcriteria provided, multiple submitters, no conflictsClinGen:CA346738562
single nucleotide variantNM_000251.3(MSH2):c.217A>T (p.Lys73Ter)MSH2Pathogenic24763554547635545ATcriteria provided, single submitterClinGen:CA346729459
DeletionNM_000251.3(MSH2):c.367-525_493delMSH2Pathogenic24763670747637358TTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGGTcriteria provided, single submitterClinGen:CA658795727
DeletionNM_000251.3(MSH2):c.475del (p.Arg159fs)MSH2Pathogenic24763734147637341GAGcriteria provided, single submitterClinGen:CA658795728
single nucleotide variantNM_000179.3(MSH6):c.1835C>G (p.Ser612Ter)MSH6Pathogenic24802695748026957CGcriteria provided, single submitterClinGen:CA346749580
DeletionNM_000179.3(MSH6):c.1738del (p.Ser580fs)MSH6Pathogenic24802685948026859GTGcriteria provided, single submitterClinGen:CA658795757
DeletionNM_000179.3(MSH6):c.1912del (p.Glu639fs)MSH6Pathogenic/Likely pathogenic24802703348027033TCTcriteria provided, multiple submitters, no conflictsClinGen:CA658795760
DuplicationNM_000179.3(MSH6):c.1700dup (p.Phe568fs)MSH6Pathogenic24802681948026820GGAcriteria provided, multiple submitters, no conflictsClinGen:CA658795755