"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1332188	NM_000251.2(MSH2):c.-82G>A	MSH2	Single nucleotide variant (5 prime UTR variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 2032519	NC_000002.12:g.47403113G>A	MSH2	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1036696	NM_000251.2(MSH2):c.-78T>C	MSH2	Single nucleotide variant (5 prime UTR variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 230527	NM_000251.2(MSH2):c.-78T>A	MSH2	Single nucleotide variant (5 prime UTR variant)	Lynch syndrome +1 more	GUncertain significance
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 3073041	NM_000251.3(MSH2):c.-13A>G	MSH2	Single nucleotide variant (5 prime UTR variant +2 more)	Lynch syndrome	GLikely benign
Select item 1331967	NM_000251.3(MSH2):c.-10A>G	MSH2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 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 491740	NM_000251.3(MSH2):c.-8G>A	MSH2	Single nucleotide variant (5 prime UTR variant +1 more)	Breast and/or ovarian cancer +3 more	GConflicting classifications of pathogenicity
Select item 491739	NM_000251.3(MSH2):c.-5T>G	MSH2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 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 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 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 582790	NM_000251.3(MSH2):c.7G>A (p.Val3Met)	MSH2 (V3M)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
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 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 653320	NM_000251.3(MSH2):c.18G>C (p.Lys6Asn)	MSH2 (K6N)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +2 more	GConflicting classifications of pathogenicity
Select item 489932	NM_000251.3(MSH2):c.20A>C (p.Glu7Ala)	MSH2 (E7A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
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 483750	NM_000251.3(MSH2):c.34G>C (p.Glu12Gln)	MSH2 (E12Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1920853	NM_000251.3(MSH2):c.36G>T (p.Glu12Asp)	MSH2 (E12D)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 408509	NM_000251.3(MSH2):c.39C>A (p.Ser13Arg)	MSH2 (S13R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 183934	NM_000251.3(MSH2):c.42G>A (p.Ala14=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome +3 more	GBenign/Likely benign
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 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 415002	NM_000251.3(MSH2):c.63C>T (p.Arg21=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 1143593	NM_000251.3(MSH2):c.66C>T (p.Phe22=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome +2 more	GLikely benign
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 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 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 185297	NM_000251.3(MSH2):c.80C>T (p.Pro27Leu)	MSH2 (P27L)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colon cancer +7 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 823422	NM_000251.3(MSH2):c.96C>T (p.Thr32=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
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 823544	NM_000251.3(MSH2):c.98C>G (p.Thr33Arg)	MSH2 (T33R)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +2 more	GUncertain significance
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 3071763	NM_000251.3(MSH2):c.101T>G (p.Val34Gly)	MSH2 (V34G)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome	GUncertain significance
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 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 920296	NM_000251.3(MSH2):c.117G>C (p.Arg39=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
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 237361	NM_000251.3(MSH2):c.121G>T (p.Asp41Tyr)	MSH2 (D41Y)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 455479	NM_000251.3(MSH2):c.123C>T (p.Asp41=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
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)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 560786	NM_000251.3(MSH2):c.127T>G (p.Tyr43Asp)	MSH2 (Y43D)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +3 more	GUncertain significance
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 491770	NM_000251.3(MSH2):c.138C>T (p.His46=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
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 819331	NM_000251.3(MSH2):c.147C>T (p.Asp49=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome +2 more	GLikely benign
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
Select item 1997396	NM_000251.3(MSH2):c.148G>A (p.Ala50Thr)	MSH2 (A50T)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +1 more	GUncertain significance
Select item 1339150	NM_000251.3(MSH2):c.149C>T (p.Ala50Val)	MSH2 (A50V)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 408464	NM_000251.3(MSH2):c.149C>G (p.Ala50Gly)	MSH2 (A50G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 3070528	NM_000251.3(MSH2):c.153G>T (p.Leu51=)	MSH2	Single nucleotide variant (synonymous variant +3 more)	Lynch syndrome	GLikely benign
Select item 1775234	NM_000251.3(MSH2):c.155T>C (p.Leu52Pro)	MSH2 (L52P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1115573	NM_000251.3(MSH2):c.156G>T (p.Leu52=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
Select item 231884	NM_000251.3(MSH2):c.157G>T (p.Ala53Ser)	MSH2 (A53S)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 229782	NM_000251.3(MSH2):c.160G>A (p.Ala54Thr)	MSH2 (A54T)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +3 more	GConflicting classifications of pathogenicity
Select item 185536	NM_000251.3(MSH2):c.160G>T (p.Ala54Ser)	MSH2 (A54S)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 142277	NM_000251.3(MSH2):c.163C>G (p.Arg55Gly)	MSH2 (R55G)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 220448	NM_000251.3(MSH2):c.164G>A (p.Arg55Gln)	MSH2 (R55Q)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 486871	NM_000251.3(MSH2):c.165G>C (p.Arg55=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
Select item 455516	NM_000251.3(MSH2):c.166G>C (p.Glu56Gln)	MSH2 (E56Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 135854	NM_000251.3(MSH2):c.166G>A (p.Glu56Lys)	MSH2 (E56K)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 188356	NM_000251.3(MSH2):c.174C>A (p.Phe58Leu)	MSH2 (F58L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 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 483733	NM_000251.3(MSH2):c.183G>C (p.Gln61His)	MSH2 (Q61H)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 856802	NM_000251.3(MSH2):c.190A>G (p.Ile64Val)	MSH2 (I64V)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +4 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 cancer-predisposing syndrome +3 more	GUncertain significance
Select item 182608	NM_000251.3(MSH2):c.198C>T (p.Tyr66=)	MSH2	Single nucleotide variant (non-coding transcript variant +2 more)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 1402674	NM_000251.3(MSH2):c.199A>C (p.Met67Leu)	MSH2 (M1L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 90871	NM_000251.3(MSH2):c.204del (p.Pro69fs)	MSH2 (P69fs +1 more)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 134841	NM_000251.3(MSH2):c.208G>A (p.Ala70Thr)	MSH2 (A70T +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 483670	NM_000251.3(MSH2):c.211+3G>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome +3 more	GConflicting classifications of pathogenicity
Select item 648056	NM_000251.3(MSH2):c.212_214del	MSH2	Deletion (intron variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 3070770	NM_000251.3(MSH2):c.219G>C (p.Lys73Asn)	MSH2 (K73N +1 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome	GUncertain significance
Select item 134846	NM_000251.3(MSH2):c.220A>C (p.Asn74His)	MSH2 (N74H +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 455553	NM_000251.3(MSH2):c.222T>A (p.Asn74Lys)	MSH2 (N74K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1789419	NM_000251.3(MSH2):c.230G>T (p.Ser77Ile)	MSH2 (S11I +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +1 more	GConflicting classifications of pathogenicity
Select item 237389	NM_000251.3(MSH2):c.232G>A (p.Val78Ile)	MSH2 (V78I +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 627705	NM_000251.3(MSH2):c.242G>C (p.Ser81Thr)	MSH2 (S81T +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +3 more	GConflicting classifications of pathogenicity
Select item 3073713	NM_000251.3(MSH2):c.243T>A (p.Ser81Arg)	MSH2 (S15R +1 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome	GUncertain significance
Select item 408535	NM_000251.3(MSH2):c.247A>G (p.Met83Val)	MSH2 (M83V +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 923746	NM_000251.3(MSH2):c.249G>C (p.Met83Ile)	MSH2 (M83I +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +2 more	GUncertain significance
Select item 3071026	NM_000251.3(MSH2):c.258A>T (p.Glu86Asp)	MSH2 (E20D +1 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 231690	NM_000251.3(MSH2):c.260C>A (p.Ser87Tyr)	MSH2 (S87Y +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 141032	NM_000251.3(MSH2):c.260C>G (p.Ser87Cys)	MSH2 (S87C +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +4 more	GConflicting classifications of pathogenicity
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 234193	NM_000251.3(MSH2):c.272A>T (p.Asp91Val)	MSH2 (D91V +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GUncertain significance

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