C2936783[trait identifier] AND "University of Washington Department of - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 231091	NM_000251.2(MSH2):c.-82G>C	MSH2	Single nucleotide variant (5 prime UTR variant)	Breast and/or ovarian cancer +2 more	GConflicting classifications of pathogenicity
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 90682	NM_000251.3(MSH2):c.14C>A (p.Pro5Gln)	MSH2 (P5Q)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +8 more	GConflicting classifications of pathogenicity
Select item 90654	NM_000251.3(MSH2):c.138C>G (p.His46Gln)	MSH2 (H46Q)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 91060	NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del)	MSH2	Deletion (inframe_deletion)	Lynch syndrome	GLikely pathogenic
Select item 245947	NM_000251.3(MSH2):c.366+1G>A	MSH2	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic
Select item 567547	NM_000251.3(MSH2):c.896A>G (p.Tyr299Cys)	MSH2 (Y299C +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 90512	NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)	MSH2 (P349A +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +7 more	GConflicting classifications of pathogenicity
Select item 90520	NM_000251.3(MSH2):c.1076+1G>T	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90525	NM_000251.3(MSH2):c.1077-1G>T	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 224575	NM_000251.3(MSH2):c.1191A>T (p.Gln397His)	MSH2 (Q397H +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 224533	NM_000251.3(MSH2):c.1201_1202dup (p.Leu401fs)	MSH2 (L335fs +1 more)	Duplication (frameshift variant)	not provided +4 more	GPathogenic
Select item 90577	NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs)	MSH2 (Q343fs)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 90601	NM_000251.3(MSH2):c.1277-1G>A	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 140864	NM_000251.3(MSH2):c.1347G>C (p.Lys449Asn)	MSH2 (K449N +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 90674	NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu)	MSH2 (D487E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 619529	NM_000251.3(MSH2):c.1511-1G>A	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 1759	NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro)	MSH2 (R524P +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely pathogenic
Select item 90707	NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys)	MSH2 (R534C +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 90720	NM_000251.3(MSH2):c.1661+1G>T	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 566832	NM_000251.3(MSH2):c.1759+1G>T	MSH2	Single nucleotide variant (splice donor variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GPathogenic/Likely pathogenic
Select item 90773	NM_000251.3(MSH2):c.1760-1G>A	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 184645	NM_000251.3(MSH2):c.1784T>G (p.Leu595Arg)	MSH2 (L595R +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GPathogenic
Select item 224577	NM_000251.3(MSH2):c.1796T>C (p.Leu599Ser)	MSH2 (L599S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 418316	NM_000251.3(MSH2):c.1807G>C (p.Asp603His)	MSH2 (D603H +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 455528	NM_000251.3(MSH2):c.1862G>A (p.Arg621Gln)	MSH2 (R621Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 127637	NM_000251.3(MSH2):c.1963G>A (p.Val655Ile)	MSH2 (V655I +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GUncertain significance
Select item 619569	NM_000251.3(MSH2):c.2006-1G>T	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 90852	NM_000251.3(MSH2):c.2006G>A (p.Gly669Asp)	MSH2 (G669D +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 428464	NM_000251.3(MSH2):c.2074G>T (p.Gly692Trp)	MSH2 (G692W +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +3 more	GConflicting classifications of pathogenicity
Select item 90928	NM_000251.3(MSH2):c.2211-1G>T	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 619523	NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg)	MSH2 (L787R +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colon cancer +3 more	GConflicting classifications of pathogenicity
Select item 619570	NM_000251.3(MSH2):c.2458+2T>C	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome 1 +2 more	GLikely pathogenic
Select item 1327495	NM_000251.3(MSH2):c.2458+976A>G	MSH2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 90977	NM_000251.3(MSH2):c.2459-12A>G	MSH2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 408455	NM_000251.3(MSH2):c.2459-1G>A	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 90990	NM_000251.3(MSH2):c.2516A>G (p.His839Arg)	MSH2 (H839R +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +7 more	GConflicting classifications of pathogenicity
Select item 140785	NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del)	MSH2	Deletion (inframe_deletion)	Lynch syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 91017	NM_000251.3(MSH2):c.2634+1G>T	MSH2 (V859F)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GLikely pathogenic
Select item 127554	NM_000179.3(MSH6):c.1106C>T (p.Thr369Ile)	MSH6 (T369I +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 89174	NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer)	MSH6	Microsatellite (nonsense)	Lynch syndrome	GPathogenic
Select item 89279	NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)	MSH6 (V800L +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GLikely benign
Select item 89357	NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)	MSH6 (R1076C +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GLikely pathogenic
Select item 89416	NM_000179.3(MSH6):c.3557-40T>A	MSH6	Single nucleotide variant (intron variant)	Lynch syndrome 1	GLikely benign
Select item 89992	NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)	MLH1 (G67R)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GPathogenic
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 90229	NM_000249.4(MLH1):c.453G>A (p.Thr151=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome 1	GUncertain significance
Select item 90452	NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)	MLH1 (E319K +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome +9 more	GConflicting classifications of pathogenicity
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 (E705K +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +6 more	GPathogenic/Likely pathogenic
Select item 135943	NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)	PMS2 (S128L +2 more)	Single nucleotide variant (missense variant +2 more)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 135069	NM_000535.7(PMS2):c.379G>A (p.Ala127Thr)	PMS2 (A127T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 9245	NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	PMS2 (S46I)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome	GLikely pathogenic

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Items: 53