"GeneDx"[submitter] AND "MSH2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 58843	GRCh38/hg38 2p21-16.3(chr2:47206008-47600171)x3	BCYRN1, EPCAM +21 more	Copy number gain	See cases	GUncertain significance
Select item 90490	NM_000251.1(MSH2):c.-433T>G	MSH2	Single nucleotide variant	Lynch syndrome	GBenign
Select item 1197741	NC_000002.12:g.47402787C>T	MSH2	Single nucleotide variant	not provided	GLikely benign
Select item 90488	NC_000002.12:g.47402967G>C	MSH2	Single nucleotide variant	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 184792	NM_000251.3(MSH2):c.-181G>A	MSH2	Single nucleotide variant	Lynch syndrome 1 +5 more	GUncertain significance
Select item 140778	NM_000251.2(MSH2):c.-140G>T	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 90485	NM_000251.2(MSH2):c.-118T>C	MSH2	Single nucleotide variant (5 prime UTR variant)	Lynch syndrome	GBenign
Select item 231091	NM_000251.2(MSH2):c.-82G>C	MSH2	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 509032	NM_000251.2(MSH2):c.-48G>C	MSH2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 418897	NM_000251.2(MSH2):c.-44G>A	MSH2	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 336424	NM_000251.2(MSH2):c.-43G>C	MSH2	Single nucleotide variant (5 prime UTR variant)	Lynch syndrome 1 +1 more	GUncertain significance
Select item 379315	NM_000251.2(MSH2):c.-42G>A	MSH2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 378153	NM_000251.2(MSH2):c.-39C>T	MSH2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 383344	NM_000251.2(MSH2):c.-37C>T	MSH2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 422947	NM_000251.3(MSH2):c.-36G>C	MSH2	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 449064	NM_000251.3(MSH2):c.-35C>T	MSH2	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 422600	NM_000251.3(MSH2):c.-34A>C	MSH2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 421334	NM_000251.3(MSH2):c.-30del	MSH2	Deletion (5 prime UTR variant)	not provided	GUncertain significance
Select item 245645	NM_000251.3(MSH2):c.-29C>T	MSH2	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 182604	NM_000251.3(MSH2):c.-23C>G	MSH2	Single nucleotide variant (5 prime UTR variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GBenign/Likely benign
Select item 516282	NM_000251.3(MSH2):c.-22C>T	MSH2	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 422521	NM_000251.3(MSH2):c.-13AGG[1]	MSH2	Microsatellite (5 prime UTR variant +1 more)	Lynch syndrome +2 more	GConflicting classifications of pathogenicity
Select item 419255	NM_000251.3(MSH2):c.-14G>C	MSH2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 392969	NM_000251.3(MSH2):c.-13A>T	MSH2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GConflicting classifications of pathogenicity
Select item 392484	NM_000251.3(MSH2):c.-11G>A	MSH2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GConflicting classifications of pathogenicity
Select item 381465	NM_000251.3(MSH2):c.-9G>A	MSH2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +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 +3 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)	Lynch syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 2504562	NM_000251.3(MSH2):c.-2A>G	MSH2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 420521	NM_000251.3(MSH2):c.-2A>C	MSH2	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
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 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)	Hereditary nonpolyposis colorectal neoplasms +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 134840	NM_000251.3(MSH2):c.5C>T (p.Ala2Val)	MSH2 (A2V)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 380128	NM_000251.3(MSH2):c.6G>C (p.Ala2=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 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 237357	NM_000251.3(MSH2):c.10C>A (p.Gln4Lys)	MSH2 (Q4K)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 182592	NM_000251.3(MSH2):c.11dup (p.Pro5fs)	MSH2 (P5fs)	Duplication (frameshift variant +1 more)	not provided +3 more	GPathogenic
Select item 577145	NM_000251.3(MSH2):c.11A>C (p.Gln4Pro)	MSH2 (Q4P)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 232346	NM_000251.3(MSH2):c.11A>T (p.Gln4Leu)	MSH2 (Q4L)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 649466	NM_000251.3(MSH2):c.13C>T (p.Pro5Ser)	MSH2 (P5S)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 455500	NM_000251.3(MSH2):c.14C>G (p.Pro5Arg)	MSH2 (P5R)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +3 more	GConflicting classifications of pathogenicity
Select item 182561	NM_000251.3(MSH2):c.14C>T (p.Pro5Leu)	MSH2 (P5L)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +4 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)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 455519	NM_000251.3(MSH2):c.16A>G (p.Lys6Glu)	MSH2 (K6E)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 485834	NM_000251.3(MSH2):c.19G>C (p.Glu7Gln)	MSH2 (E7Q)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +3 more	GConflicting classifications of pathogenicity
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 479838	NM_000251.3(MSH2):c.27G>A (p.Leu9=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 421632	NM_000251.3(MSH2):c.39_48del (p.Ser13fs)	MSH2 (S13fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 245828	NM_000251.3(MSH2):c.38G>A (p.Ser13Asn)	MSH2 (S13N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 573526	NM_000251.3(MSH2):c.39C>G (p.Ser13Arg)	MSH2 (S13R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 229930	NM_000251.3(MSH2):c.40G>A (p.Ala14Thr)	MSH2 (A14T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 439195	NM_000251.3(MSH2):c.43G>A (p.Ala15Thr)	MSH2 (A15T)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
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 186237	NM_000251.3(MSH2):c.51C>A (p.Val17=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 455598	NM_000251.3(MSH2):c.54C>T (p.Gly18=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GConflicting classifications of pathogenicity
Select item 418959	NM_000251.3(MSH2):c.55T>G (p.Phe19Val)	MSH2 (F19V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 182595	NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)	MSH2 (F19L)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 650519	NM_000251.3(MSH2):c.56T>C (p.Phe19Ser)	MSH2 (F19S)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 419807	NM_000251.3(MSH2):c.62G>T (p.Arg21Leu)	MSH2 (R21L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 182566	NM_000251.3(MSH2):c.62G>A (p.Arg21His)	MSH2 (R21H)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +3 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)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 421129	NM_000251.3(MSH2):c.72G>C (p.Gln24His)	MSH2 (Q24H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 185668	NM_000251.3(MSH2):c.73G>T (p.Gly25Cys)	MSH2 (G25C)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 184810	NM_000251.3(MSH2):c.74G>A (p.Gly25Asp)	MSH2 (G25D)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 827262	NM_000251.3(MSH2):c.77T>C (p.Met26Thr)	MSH2 (M26T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 568219	NM_000251.3(MSH2):c.80C>G (p.Pro27Arg)	MSH2 (P27R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 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 cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 392714	NM_000251.3(MSH2):c.84G>A (p.Glu28=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 3363506	NM_000251.3(MSH2):c.89C>A (p.Pro30Gln)	MSH2 (P30Q)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 185140	NM_000251.3(MSH2):c.89C>T (p.Pro30Leu)	MSH2 (P30L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2578054	NM_000251.3(MSH2):c.93C>T (p.Thr31=)	MSH2	Single nucleotide variant (synonymous variant +3 more)	Lynch syndrome +1 more	GConflicting classifications of pathogenicity
Select item 91268	NM_000251.3(MSH2):c.97A>G (p.Thr33Ala)	MSH2 (T33A)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
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 418943	NM_000251.3(MSH2):c.100G>A (p.Val34Met)	MSH2 (V34M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 422949	NM_000251.3(MSH2):c.103C>G (p.Arg35Gly)	MSH2 (R35G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 479859	NM_000251.3(MSH2):c.105C>A (p.Arg35=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 182567	NM_000251.3(MSH2):c.112G>T (p.Asp38Tyr)	MSH2 (D38Y)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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)	Hereditary nonpolyposis colorectal neoplasms +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 1144505	NM_000251.3(MSH2):c.126C>T (p.Phe42=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 182574	NM_000251.3(MSH2):c.126C>G (p.Phe42Leu)	MSH2 (F42L)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 422056	NM_000251.3(MSH2):c.128A>T (p.Tyr43Phe)	MSH2 (Y43F)	Single nucleotide variant (missense variant +1 more)	not provided +2 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 428526	NM_000251.3(MSH2):c.129T>C (p.Tyr43=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 408457	NM_000251.3(MSH2):c.132G>A (p.Thr44=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GLikely benign
Select item 509296	NM_000251.3(MSH2):c.135G>T (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 90662	NM_000251.3(MSH2):c.142G>T (p.Glu48Ter)	MSH2 (E48*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 90675	NM_000251.3(MSH2):c.146A>T (p.Asp49Val)	MSH2 (D49V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 182582	NM_000251.3(MSH2):c.147C>G (p.Asp49Glu)	MSH2 (D49E)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +4 more	GUncertain significance

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