C2936783[trait identifier] AND "Pathway Genomics"[submitter] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 90833	NM_000251.3(MSH2):c.1A>G (p.Met1Val)	MSH2 (M1V)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
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 36573	NM_000251.3(MSH2):c.211+9C>G	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
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 36577	NM_000251.3(MSH2):c.380A>G (p.Asn127Ser)	MSH2 (N127S +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
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 156503	NM_000251.3(MSH2):c.1030C>A (p.Gln344Lys)	MSH2 (Q344K +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GUncertain significance
Select item 192221	NM_000251.3(MSH2):c.1223A>T (p.Tyr408Phe)	MSH2 (Y408F +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 156506	NM_000251.3(MSH2):c.1271dup (p.His424fs)	MSH2 (H424fs +1 more)	Duplication (frameshift variant)	Lynch syndrome 1	GPathogenic
Select item 36566	NM_000251.3(MSH2):c.1511-9A>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 36567	NM_000251.3(MSH2):c.1661+12G>A	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 36571	NM_000251.3(MSH2):c.2006-6T>C	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 156504	NM_000251.3(MSH2):c.2304del (p.Glu768fs)	MSH2 (E702fs +1 more)	Deletion (frameshift variant)	Lynch syndrome 1	GLikely pathogenic
Select item 156502	NM_000251.3(MSH2):c.2363_2364del (p.Thr788fs)	MSH2 (T722fs +1 more)	Deletion (frameshift variant)	Lynch syndrome 1	GLikely pathogenic
Select item 91005	NM_000251.3(MSH2):c.2579C>A (p.Ser860Ter)	MSH2 (S860* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 91039	NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg)	MSH2 (L911R +1 more)	Single nucleotide variant (missense variant)	MSH2-related condition +7 more	GConflicting classifications of pathogenicity
Select item 156505	NM_000251.3(MSH2):c.2789T>A (p.Ile930Lys)	MSH2 (I930K +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GUncertain significance
Select item 36581	NM_000179.3(MSH6):c.116G>A (p.Gly39Glu)	MSH6 (G39E)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 89519	NM_000179.3(MSH6):c.426G>A (p.Trp142Ter)	MSH6 (W142*)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome	GPathogenic
Select item 89534	NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)	MSH6 (S156*)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome	GPathogenic
Select item 36582	NM_000179.3(MSH6):c.1186C>G (p.Leu396Val)	MSH6 (L396V +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 89198	NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys)	MSH6 (S201C +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 41588	NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)	MSH6 (V509A +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 156507	NM_000179.3(MSH6):c.1705_1706del (p.Phe569fs)	MSH6 (F267fs +1 more)	Deletion (frameshift variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GPathogenic
Select item 135835	NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr)	MSH6 (I795T +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 89352	NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)	MSH6 (R1068* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 192222	NM_000179.3(MSH6):c.4072A>G (p.Lys1358Glu)	MSH6 (K1358E +2 more)	Single nucleotide variant (missense variant)	Endometrial carcinoma +3 more	GUncertain significance
Select item 192220	NM_000249.4(MLH1):c.37G>A (p.Glu13Lys)	MLH1 (E13K)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 17094	NM_000249.4(MLH1):c.350C>T (p.Thr117Met)	MLH1 (T117M +2 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 36557	NM_000249.4(MLH1):c.655A>G (p.Ile219Val)	MLH1 (I219V +2 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 90452	NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)	MLH1 (E319K +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +9 more	GConflicting classifications of pathogenicity
Select item 42496	NM_000249.4(MLH1):c.977T>C (p.Val326Ala)	MLH1 (V326A +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GBenign
Select item 36539	NM_000249.4(MLH1):c.1039-8T>A	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome 1	GBenign
Select item 41632	NM_000249.4(MLH1):c.1151T>A (p.Val384Asp)	MLH1 (V384D +5 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 89696	NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)	MLH1 (A441T +5 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 89698	NM_000249.4(MLH1):c.1327A>C (p.Lys443Gln)	MLH1 (K443Q +5 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 36541	NM_000249.4(MLH1):c.1558+14G>A	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 17089	NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)	MLH1 (K618A +5 more)	Indel (missense variant +1 more)	Lynch syndrome	GBenign
Select item 89906	NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)	MLH1 (K618T +5 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 36546	NM_000249.4(MLH1):c.1959G>T (p.Leu653=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GBenign
Select item 90068	NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter)	MLH1 (W714* +8 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 90073	NM_000249.4(MLH1):c.2154_2155dup (p.Ile719fs)	MLH1 (I378fs +8 more)	Microsatellite (frameshift variant)	Lynch syndrome	GPathogenic
Select item 36547	NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)	MLH1 (H718Y +8 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 36691	NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala)	PMS2 (G857A +9 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 36689	NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)	PMS2 (N775S +9 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 36688	NM_000535.7(PMS2):c.2253T>C (p.Phe751=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GBenign
Select item 91330	NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)	PMS2 (L538fs +7 more)	Microsatellite (frameshift variant +1 more)	Lynch syndrome	GUncertain significance
Select item 192223	NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala)	PMS2 (T728A +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 91328	NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)	PMS2 (E653K +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GPathogenic/Likely pathogenic
Select item 127770	NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)	PMS2 (T671M +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 91327	NM_000535.7(PMS2):c.2007-4G>A	PMS2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 91317	NM_000535.7(PMS2):c.1831dup (p.Ile611fs)	PMS2 (I476fs +7 more)	Duplication (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 41707	NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser)	PMS2 (T597S +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GBenign
Select item 41705	NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)	PMS2 (R563L +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 36685	NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser)	PMS2 (P470S +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 127798	NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)	PMS2 (D286G +4 more)	Single nucleotide variant (missense variant +2 more)	Breast and/or ovarian cancer +7 more	GConflicting classifications of pathogenicity
Select item 156510	NM_000535.7(PMS2):c.452G>A (p.Arg151His)	PMS2 (R151H +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 41716	NM_000535.7(PMS2):c.59G>A (p.Arg20Gln)	PMS2 (R20Q)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome	GBenign
Select item 41713	NM_000535.7(PMS2):c.52A>G (p.Ile18Val)	PMS2 (I18V)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 1	GLikely benign
Select item 91323	NM_000535.7(PMS2):c.1A>G (p.Met1Val)	PMS2 (M1V)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 1	GLikely pathogenic

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Items: 60