"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "MSH2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 41650	NM_000251.3(MSH2):c.4G>A (p.Ala2Thr)	MSH2 (A2T)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GLikely benign
Select item 90886	NM_000251.3(MSH2):c.20del (p.Glu7fs)	MSH2 (E7fs)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 90964	NM_000251.3(MSH2):c.23C>T (p.Thr8Met)	MSH2 (T8M)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 91068	NM_000251.3(MSH2):c.34dup (p.Glu12fs)	MSH2 (E12fs)	Duplication (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 421121	NM_000251.3(MSH2):c.47A>C (p.Glu16Ala)	MSH2 (E16A)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 1755524	NM_000251.3(MSH2):c.68_69del (p.Phe23fs)	MSH2 (F23fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 218050	NM_000251.3(MSH2):c.95C>G (p.Thr32Ser)	MSH2 (T32S)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GConflicting classifications of pathogenicity
Select item 90662	NM_000251.3(MSH2):c.142G>T (p.Glu48Ter)	MSH2 (E48*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 90794	NM_000251.3(MSH2):c.181C>T (p.Gln61Ter)	MSH2 (Q61*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 90808	NM_000251.3(MSH2):c.187del (p.Gly62_Val63insTer)	MSH2	Deletion (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 36573	NM_000251.3(MSH2):c.211+9C>G	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 491795	NM_000251.3(MSH2):c.212-4dup	MSH2	Duplication (intron variant)	Breast and/or ovarian cancer +4 more	GBenign/Likely benign
Select item 90892	NM_000251.3(MSH2):c.212-1G>A	MSH2	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome	GPathogenic
Select item 90945	NM_000251.3(MSH2):c.226C>T (p.Gln76Ter)	MSH2 (Q76* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 638901	NM_000251.3(MSH2):c.235G>A (p.Val79Met)	MSH2 (V13M +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 91062	NM_000251.3(MSH2):c.317G>A (p.Arg106Lys)	MSH2 (R106K +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 36576	NM_000251.3(MSH2):c.339G>A (p.Lys113=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GBenign
Select item 127643	NM_000251.3(MSH2):c.362A>G (p.Tyr121Cys)	MSH2 (Y121C +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 36577	NM_000251.3(MSH2):c.380A>G (p.Asn127Ser)	MSH2 (N127S +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 91089	NM_000251.3(MSH2):c.387_388del (p.Gln130fs)	MSH2 (Q130fs +1 more)	Microsatellite (frameshift variant)	Lynch syndrome	GPathogenic
Select item 141500	NM_000251.3(MSH2):c.409G>C (p.Gly137Arg)	MSH2 (G137R +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 91101	NM_000251.3(MSH2):c.471C>A (p.Gly157=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GLikely benign
Select item 91126	NM_000251.3(MSH2):c.528_529del (p.Cys176_Glu177delinsTer)	MSH2	Microsatellite (nonsense)	Lynch syndrome	GPathogenic
Select item 91133	NM_000251.3(MSH2):c.557A>G (p.Asn186Ser)	MSH2 (N120S)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 91140	NM_000251.3(MSH2):c.573C>T (p.Leu191=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GBenign
Select item 91177	NM_000251.3(MSH2):c.687del (p.Ala230fs)	MSH2 (A230fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 218049	NM_000251.3(MSH2):c.793-23G>A	MSH2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 218048	NM_000251.3(MSH2):c.793-1G>A	MSH2	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GPathogenic/Likely pathogenic
Select item 381128	NM_000251.3(MSH2):c.804A>G (p.Ser268=)	MSH2	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
Select item 492700	NM_000251.3(MSH2):c.839del (p.Leu280fs)	MSH2 (L280fs +1 more)	Deletion (frameshift variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GPathogenic
Select item 801212	NM_000251.3(MSH2):c.851C>A (p.Ser284Tyr)	MSH2 (S218Y +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 428511	NM_000251.3(MSH2):c.870_874del (p.Glu290fs)	MSH2 (E290fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 420949	NM_000251.3(MSH2):c.871del (p.Glu290_Leu291insTer)	MSH2	Deletion (nonsense)	Lynch syndrome 1 +3 more	GPathogenic
Select item 483665	NM_000251.3(MSH2):c.877A>G (p.Thr293Ala)	MSH2 (T293A +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 230030	NM_000251.3(MSH2):c.905T>C (p.Leu302Ser)	MSH2 (L302S +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 36580	NM_000251.3(MSH2):c.942+3A>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GPathogenic
Select item 1762	NM_000251.3(MSH2):c.965G>A (p.Gly322Asp)	MSH2 (G322D +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 91261	NM_000251.3(MSH2):c.970C>T (p.Gln324Ter)	MSH2 (Q324* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 91269	NM_000251.3(MSH2):c.984C>T (p.Ala328=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GLikely benign
Select item 90510	NM_000251.3(MSH2):c.1035G>A (p.Trp345Ter)	MSH2 (W345* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 36562	NM_000251.3(MSH2):c.1077-10T>C	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 492701	NM_000251.3(MSH2):c.1083_1100delinsATCTTCTAC (p.Asn361_Val367delinsLysSerSerThr)	MSH2	Indel (inframe_indel)	not specified	GUncertain significance
Select item 218028	NM_000251.3(MSH2):c.1090del (p.Glu364fs)	MSH2 (E298fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 90554	NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)	MSH2 (R383* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 90557	NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)	MSH2 (R389* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 218029	NM_000251.3(MSH2):c.1177A>T (p.Lys393Ter)	MSH2 (K393* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome 1 +2 more	GPathogenic
Select item 1755	NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)	MSH2 (R406* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 90577	NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs)	MSH2 (Q343fs)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 818656	NM_000251.3(MSH2):c.1231A>G (p.Ile411Val)	MSH2 (I411V +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 218030	NM_000251.3(MSH2):c.1237C>T (p.Gln413Ter)	MSH2 (Q413* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome 1 +2 more	GPathogenic
Select item 218031	NM_000251.3(MSH2):c.1251_1268delinsAGTT (p.Ile418fs)	MSH2 (I418fs +1 more)	Indel	Lynch syndrome +2 more	GPathogenic/Likely pathogenic
Select item 90584	NM_000251.3(MSH2):c.1255C>T (p.Gln419Ter)	MSH2 (Q419* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 90589	NM_000251.3(MSH2):c.1275A>G (p.Glu425=)	MSH2	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 218032	NM_000251.3(MSH2):c.1276+2T>C	MSH2	Single nucleotide variant (splice donor variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GPathogenic/Likely pathogenic
Select item 138253	NM_000251.3(MSH2):c.1277-16T>C	MSH2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 92665	NM_000251.3(MSH2):c.1277-8T>C	MSH2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GBenign/Likely benign
Select item 218034	NM_000251.3(MSH2):c.1302del (p.Val435fs)	MSH2 (V369fs)	Deletion (frameshift variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GPathogenic
Select item 183761	NM_000251.3(MSH2):c.1351C>T (p.Gln451Ter)	MSH2 (Q451* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 492702	NM_000251.3(MSH2):c.1386+23T>G	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome 1 +5 more	GBenign/Likely benign
Select item 218035	NM_000251.3(MSH2):c.1386+104C>T	MSH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 36565	NM_000251.3(MSH2):c.1387-8G>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome 1	GBenign
Select item 218036	NM_000251.3(MSH2):c.1394dup (p.Asn465fs)	MSH2 (N399fs +1 more)	Duplication (frameshift variant)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 90674	NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu)	MSH2 (D487E +1 more)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 218037	NM_000251.3(MSH2):c.1481C>G (p.Ser494Ter)	MSH2 (S494* +1 more)	Single nucleotide variant (nonsense)	Hereditary nonpolyposis colorectal neoplasms +1 more	GPathogenic
Select item 90689	NM_000251.3(MSH2):c.1511-91G>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 36566	NM_000251.3(MSH2):c.1511-9A>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 90688	NM_000251.3(MSH2):c.1511-2A>G	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GPathogenic
Select item 218038	NM_000251.3(MSH2):c.1538_1539del (p.Leu513fs)	MSH2 (L447fs +1 more)	Deletion (frameshift variant)	Lynch syndrome 1 +1 more	GPathogenic
Select item 36567	NM_000251.3(MSH2):c.1661+12G>A	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 218039	NM_000251.3(MSH2):c.1661+73A>G	MSH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 90723	NM_000251.3(MSH2):c.1661+90T>C	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 90730	NM_000251.3(MSH2):c.1662-9G>A	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 36568	NM_000251.3(MSH2):c.1666T>C (p.Leu556=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GBenign
Select item 36570	NM_000251.3(MSH2):c.1737A>G (p.Lys579=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GLikely benign
Select item 90763	NM_000251.3(MSH2):c.1738G>T (p.Glu580Ter)	MSH2 (E580* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 90766	NM_000251.3(MSH2):c.1759+1G>A	MSH2	Single nucleotide variant (splice donor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 90775	NM_000251.3(MSH2):c.1760-62G>A	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 1757	NM_000251.3(MSH2):c.1786_1788del (p.Asn596del)	MSH2 (N596del +1 more)	Deletion (inframe_deletion)	Lynch syndrome	GPathogenic
Select item 90799	NM_000251.3(MSH2):c.1835C>G (p.Ser612Ter)	MSH2 (S612* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 218040	NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu)	MSH2 (R621L +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 90812	NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg)	MSH2 (Q629R +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 1764	NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)	MSH2 (A636P +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GPathogenic
Select item 90816	NM_000251.3(MSH2):c.1911del (p.Arg638fs)	MSH2 (R572fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 1756	NM_000251.3(MSH2):c.1915C>T (p.His639Tyr)	MSH2 (H639Y +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GPathogenic
Select item 90827	NM_000251.3(MSH2):c.1982_1985del (p.Lys661fs)	MSH2 (K595fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 90842	NM_000251.3(MSH2):c.2005+3_2005+14del	MSH2	Deletion (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 492703	NM_000251.3(MSH2):c.2004T>A (p.Thr668=)	MSH2	Single nucleotide variant (synonymous variant)	not provided	GLikely pathogenic
Select item 218041	NM_000251.3(MSH2):c.2005+2dup	MSH2	Duplication (splice donor variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GConflicting classifications of pathogenicity
Select item 36571	NM_000251.3(MSH2):c.2006-6T>C	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 183719	NM_000251.3(MSH2):c.2006-4G>A	MSH2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 90854	NM_000251.3(MSH2):c.2006G>T (p.Gly669Val)	MSH2 (G669V +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GPathogenic
Select item 36572	NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter)	MSH2 (R680* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 90868	NM_000251.3(MSH2):c.2047G>A (p.Gly683Arg)	MSH2 (G683R +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GPathogenic
Select item 90873	NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro)	MSH2 (L687P +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colon cancer +4 more	GPathogenic/Likely pathogenic
Select item 1760	NM_000251.3(MSH2):c.2113del (p.Val705fs)	MSH2 (V639fs)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 90903	NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)	MSH2 (R711* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 138255	NM_000251.3(MSH2):c.2205C>T (p.Ile735=)	MSH2	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 218042	NM_000251.3(MSH2):c.2236dup (p.Ile746fs)	MSH2 (I746fs +1 more)	Duplication (frameshift variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GPathogenic
Select item 218043	NM_000251.3(MSH2):c.2295_2296insTA (p.Ile766Ter)	MSH2 (I766* +1 more)	Insertion (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 186151	NM_000251.3(MSH2):c.2296A>G (p.Ile766Val)	MSH2 (I766V +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity

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