ClinVar Miner

List of variants reported as uncertain significance for Lynch syndrome by International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP
NM_000179.2(MSH6):c.3338T>G (p.Ile1113Ser) rs41295272
NM_000179.2(MSH6):c.4064_4065insGTCA (p.Leu1356fs) rs267608141
NM_000249.3(MLH1):c.116G>A (p.Cys39Tyr) rs63751701
NM_000249.3(MLH1):c.116G>T (p.Cys39Phe) rs63751701
NM_000249.3(MLH1):c.1612T>G (p.Trp538Gly) rs1559575214
NM_000249.3(MLH1):c.1676T>G (p.Leu559Arg) rs63750059
NM_000249.3(MLH1):c.1731+6T>G rs587778940
NM_000249.3(MLH1):c.1823C>A (p.Ala608Asp) rs267607864
NM_000249.3(MLH1):c.1988A>C (p.Glu663Ala) rs63751682
NM_000249.3(MLH1):c.2103G>A (p.Gln701=) rs63750603
NM_000249.3(MLH1):c.2250C>A (p.Tyr750Ter) rs267607893
NM_000249.3(MLH1):c.2250C>G (p.Tyr750Ter) rs267607893
NM_000249.3(MLH1):c.2262del (p.Arg755fs) rs267607904
NM_000249.3(MLH1):c.2265G>C (p.Arg755Ser) rs267607895
NM_000249.3(MLH1):c.2269T>A (p.Ter757Lys) rs587778995
NM_000249.3(MLH1):c.306+4A>G rs267607733
NM_000249.3(MLH1):c.306G>A (p.Glu102=) rs63751665
NM_000249.3(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.3(MLH1):c.884G>C (p.Ser295Thr) rs63750144
NM_000249.4(MLH1):c.453G>A (p.Thr151=) rs369521379
NM_000251.2(MSH2):c.1277-14C>G rs267607951
NM_000251.2(MSH2):c.1510G>C (p.Gly504Arg) rs63751600
NM_000251.2(MSH2):c.1662-18T>C rs376235435
NM_000251.2(MSH2):c.1807G>A (p.Asp603Asn) rs63750657
NM_000251.2(MSH2):c.1963G>A (p.Val655Ile) rs549467183
NM_000251.2(MSH2):c.1A>C (p.Met1Leu) rs267607911
NM_000251.2(MSH2):c.1A>T (p.Met1Leu) rs267607911
NM_000251.2(MSH2):c.2005G>C (p.Gly669Arg) rs63751668
NM_000251.2(MSH2):c.2437A>G (p.Met813Val) rs63749841
NM_000251.2(MSH2):c.2634G>C (p.Glu878Asp) rs63751624
NM_000251.2(MSH2):c.2740G>T (p.Glu914Ter) rs267608024
NM_000251.2(MSH2):c.2797dup (p.Thr933fs) rs587779156
NM_000251.2(MSH2):c.792G>C (p.Gln264His) rs587779183
NM_000251.2(MSH2):c.991A>G (p.Asn331Asp) rs267607938
NM_000251.3(MSH2):c.1A>G (p.Met1Val) rs267607911
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter) rs551060742
NM_000535.7(PMS2):c.2184_2185TC[1] (p.Leu729fs) rs587779335
NM_001167617.2(MLH1):c.1958_1959dup (p.Val654fs) rs267607901

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