"Women's Health and Genetics/Laboratory Corporation of America, LabCor - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 508

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 381465	NM_000251.3(MSH2):c.-9G>A	MSH2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 182605	NM_000251.3(MSH2):c.-9G>C	MSH2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 422224	NM_000251.3(MSH2):c.-8G>T	MSH2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 127624	NM_000251.3(MSH2):c.-3G>C	MSH2	Single nucleotide variant (5 prime UTR variant +1 more)	MSH2-related condition +6 more	GConflicting classifications of pathogenicity
Select item 90832	NM_000251.3(MSH2):c.1A>C (p.Met1Leu)	MSH2 (M1L)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 91114	NM_000251.3(MSH2):c.4_21dup (p.Ala2_Glu7dup)	MSH2	Duplication (inframe_insertion +2 more)	not provided +2 more	GUncertain significance
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 380128	NM_000251.3(MSH2):c.6G>C (p.Ala2=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GLikely benign
Select item 91181	NM_000251.3(MSH2):c.6G>T (p.Ala2=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GLikely benign
Select item 3063802	NM_000251.3(MSH2):c.8T>G (p.Val3Gly)	MSH2 (V3G)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 578361	NM_000251.3(MSH2):c.10C>T (p.Gln4Ter)	MSH2 (Q4*)	Single nucleotide variant (nonsense +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 90682	NM_000251.3(MSH2):c.14C>A (p.Pro5Gln)	MSH2 (P5Q)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colon cancer +8 more	GConflicting classifications of pathogenicity
Select item 415014	NM_000251.3(MSH2):c.21G>A (p.Glu7=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
Select item 91068	NM_000251.3(MSH2):c.34dup (p.Glu12fs)	MSH2 (E12fs)	Duplication (intron variant +1 more)	Lynch syndrome	GPathogenic
Select item 570008	NM_000251.3(MSH2):c.36G>C (p.Glu12Asp)	MSH2 (E12D)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 182595	NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)	MSH2 (F19L)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +7 more	GConflicting classifications of pathogenicity
Select item 188160	NM_000251.3(MSH2):c.67T>C (p.Phe23Leu)	MSH2 (F23L)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 127652	NM_000251.3(MSH2):c.70C>T (p.Gln24Ter)	MSH2 (Q24*)	Single nucleotide variant (nonsense +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 184810	NM_000251.3(MSH2):c.74G>A (p.Gly25Asp)	MSH2 (G25D)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 483722	NM_000251.3(MSH2):c.75del (p.Met26fs)	MSH2 (M26fs)	Deletion (frameshift variant +1 more)	Lynch syndrome +2 more	GPathogenic/Likely pathogenic
Select item 827377	NM_000251.3(MSH2):c.79C>T (p.Pro27Ser)	MSH2 (P27S)	Single nucleotide variant (missense variant +1 more)	MSH2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 237411	NM_000251.3(MSH2):c.79C>A (p.Pro27Thr)	MSH2 (P27T)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 185297	NM_000251.3(MSH2):c.80C>T (p.Pro27Leu)	MSH2 (P27L)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 185140	NM_000251.3(MSH2):c.89C>T (p.Pro30Leu)	MSH2 (P30L)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
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 917577	NM_000251.3(MSH2):c.98_99del (p.Thr33fs)	MSH2 (T33fs)	Microsatellite (frameshift variant +1 more)	Hereditary nonpolyposis colon cancer	GLikely pathogenic
Select item 91267	NM_000251.3(MSH2):c.97A>C (p.Thr33Pro)	MSH2 (T33P)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +7 more	GConflicting classifications of pathogenicity
Select item 90555	NM_000251.3(MSH2):c.114C>G (p.Asp38Glu)	MSH2 (D38E)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 185640	NM_000251.3(MSH2):c.115C>A (p.Arg39=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 142842	NM_000251.3(MSH2):c.116G>C (p.Arg39Pro)	MSH2 (R39P)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 90560	NM_000251.3(MSH2):c.118G>A (p.Gly40Ser)	MSH2 (G40S)	Single nucleotide variant (missense variant +1 more)	MSH2-related condition +7 more	GConflicting classifications of pathogenicity
Select item 186463	NM_000251.3(MSH2):c.123C>G (p.Asp41Glu)	MSH2 (D41E)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 182574	NM_000251.3(MSH2):c.126C>G (p.Phe42Leu)	MSH2 (F42L)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 90619	NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)	MSH2 (Y43C)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +8 more	GConflicting classifications of pathogenicity
Select item 633310	NM_000251.3(MSH2):c.132G>T (p.Thr44=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 415003	NM_000251.3(MSH2):c.135G>A (p.Ala45=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
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 757005	NM_000251.3(MSH2):c.153G>A (p.Leu51=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
Select item 186226	NM_000251.3(MSH2):c.159C>T (p.Ala53=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Breast and/or ovarian cancer +4 more	GLikely benign
Select item 185536	NM_000251.3(MSH2):c.160G>T (p.Ala54Ser)	MSH2 (A54S)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 90712	NM_000251.3(MSH2):c.163del (p.Arg55fs)	MSH2 (R55fs)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 455516	NM_000251.3(MSH2):c.166G>C (p.Glu56Gln)	MSH2 (E56Q)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +4 more	GConflicting classifications of pathogenicity
Select item 90798	NM_000251.3(MSH2):c.182A>C (p.Gln61Pro)	MSH2 (Q61P)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 184265	NM_000251.3(MSH2):c.186G>A (p.Gly62=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GLikely benign
Select item 1579170	NM_000251.3(MSH2):c.192C>A (p.Ile64=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 573509	NM_000251.3(MSH2):c.192C>G (p.Ile64Met)	MSH2 (I64M)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 182608	NM_000251.3(MSH2):c.198C>T (p.Tyr66=)	MSH2	Single nucleotide variant (synonymous variant +2 more)	Breast and/or ovarian cancer +7 more	GConflicting classifications of pathogenicity
Select item 216347	NM_000251.3(MSH2):c.199A>G (p.Met67Val)	MSH2 (M67V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 142708	NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)	MSH2 (G71R +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GPathogenic/Likely pathogenic
Select item 966536	NM_000251.3(MSH2):c.211+1G>C	MSH2	Single nucleotide variant (splice donor variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GPathogenic
Select item 378154	NM_000251.3(MSH2):c.211+8C>T	MSH2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 36573	NM_000251.3(MSH2):c.211+9C>G	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 633313	NM_000251.3(MSH2):c.212-4T>G	MSH2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 428530	NM_000251.3(MSH2):c.217_227del (p.Lys73fs)	MSH2 (K73fs +1 more)	Deletion (frameshift variant)	Hereditary nonpolyposis colon cancer +1 more	GPathogenic
Select item 569135	NM_000251.3(MSH2):c.215C>G (p.Ala72Gly)	MSH2 (A72G +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 134846	NM_000251.3(MSH2):c.220A>C (p.Asn74His)	MSH2 (N74H +1 more)	Single nucleotide variant (missense variant)	Muir-Torré syndrome +7 more	GConflicting classifications of pathogenicity
Select item 90953	NM_000251.3(MSH2):c.229_230del (p.Ser77fs)	MSH2 (S11fs +1 more)	Microsatellite (frameshift variant)	Lynch syndrome	GPathogenic
Select item 185476	NM_000251.3(MSH2):c.237G>T (p.Val79=)	MSH2	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
Select item 232406	NM_000251.3(MSH2):c.266T>C (p.Val89Ala)	MSH2 (V89A +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 1301317	NM_000251.3(MSH2):c.271G>T (p.Asp91Tyr)	MSH2 (D25Y +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 91050	NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del)	MSH2 (L94del +1 more)	Microsatellite (inframe_deletion)	Lynch syndrome	GBenign
Select item 455582	NM_000251.3(MSH2):c.274C>A (p.Leu92Ile)	MSH2 (L92I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 91041	NM_000251.3(MSH2):c.274C>G (p.Leu92Val)	MSH2 (L92V +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 455584	NM_000251.3(MSH2):c.275T>A (p.Leu92His)	MSH2 (L92H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 662262	NM_000251.3(MSH2):c.283G>A (p.Val95Ile)	MSH2 (V29I +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 489943	NM_000251.3(MSH2):c.286C>T (p.Arg96Cys)	MSH2 (R96C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 91053	NM_000251.3(MSH2):c.287G>A (p.Arg96His)	MSH2 (R96H +1 more)	Single nucleotide variant (missense variant)	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 920049	NM_000251.3(MSH2):c.303A>G (p.Glu101=)	MSH2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 36575	NM_000251.3(MSH2):c.304G>A (p.Val102Ile)	MSH2 (V102I +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
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 127642	NM_000251.3(MSH2):c.328A>C (p.Lys110Gln)	MSH2 (K110Q +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 135862	NM_000251.3(MSH2):c.336C>A (p.Ser112=)	MSH2	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 36576	NM_000251.3(MSH2):c.339G>A (p.Lys113=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GBenign
Select item 237395	NM_000251.3(MSH2):c.340G>T (p.Glu114Ter)	MSH2 (E114* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome +4 more	GPathogenic/Likely pathogenic
Select item 127643	NM_000251.3(MSH2):c.362A>G (p.Tyr121Cys)	MSH2 (Y121C +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 245947	NM_000251.3(MSH2):c.366+1G>A	MSH2	Single nucleotide variant (splice donor variant)	Hereditary nonpolyposis colon cancer +5 more	GPathogenic/Likely pathogenic
Select item 232621	NM_000251.3(MSH2):c.366+4A>C	MSH2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 182607	NM_000251.3(MSH2):c.367-19A>T	MSH2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GBenign/Likely benign
Select item 632899	NM_000251.3(MSH2):c.367-3T>C	MSH2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 759567	NM_000251.3(MSH2):c.375T>G (p.Pro125=)	MSH2	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GLikely benign
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 127644	NM_000251.3(MSH2):c.382C>G (p.Leu128Val)	MSH2 (L128V +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 182576	NM_000251.3(MSH2):c.383T>G (p.Leu128Arg)	MSH2 (L128R +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 182577	NM_000251.3(MSH2):c.386C>G (p.Ser129Cys)	MSH2 (S129C +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 91090	NM_000251.3(MSH2):c.388_389del (p.Gln130fs)	MSH2 (Q64fs)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 932193	NM_000251.3(MSH2):c.395A>T (p.Glu132Val)	MSH2 (E132V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 187103	NM_000251.3(MSH2):c.403C>G (p.Leu135Val)	MSH2 (L135V +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 127646	NM_000251.3(MSH2):c.403C>T (p.Leu135Phe)	MSH2 (L135F +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 36578	NM_000251.3(MSH2):c.421A>G (p.Met141Val)	MSH2 (M141V +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GConflicting classifications of pathogenicity
Select item 91096	NM_000251.3(MSH2):c.425C>G (p.Ser142Ter)	MSH2 (S142* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 984523	NM_000251.3(MSH2):c.430del (p.Ser144fs)	MSH2 (S144fs +1 more)	Deletion (frameshift variant)	Hereditary nonpolyposis colon cancer	GLikely pathogenic
Select item 231613	NM_000251.3(MSH2):c.433A>G (p.Ile145Val)	MSH2 (I145V +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 408505	NM_000251.3(MSH2):c.434T>C (p.Ile145Thr)	MSH2 (I145T +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 91097	NM_000251.3(MSH2):c.435T>G (p.Ile145Met)	MSH2 (I145M +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +9 more	GConflicting classifications of pathogenicity
Select item 420893	NM_000251.3(MSH2):c.440T>G (p.Val147Gly)	MSH2 (V147G +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 91100	NM_000251.3(MSH2):c.459C>T (p.Ser153=)	MSH2	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GBenign/Likely benign
Select item 455593	NM_000251.3(MSH2):c.464T>G (p.Val155Gly)	MSH2 (V155G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 216361	NM_000251.3(MSH2):c.470G>C (p.Gly157Ala)	MSH2 (G157A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 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

<< First< Prev

Page of 6