"Color Diagnostics, LLC DBA Color Health"[submitter] AND "MSH2"[gene] - 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 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 90495	NM_000251.2(MSH2):c.-81dup	MSH2	Duplication (5 prime UTR variant)	Lynch syndrome 1 +3 more	GUncertain significance
Select item 2032519	NC_000002.12:g.47403113G>A	MSH2	Single nucleotide variant (5 prime UTR variant)	Lynch syndrome +2 more	GUncertain significance
Select item 1036696	NM_000251.2(MSH2):c.-78T>C	MSH2	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 926506	NM_000251.2(MSH2):c.-75dup	MSH2	Duplication (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	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 1172373	NM_000251.2(MSH2):c.-76_-72GGAGG[1]	MSH2	Microsatellite (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 923211	NM_000251.3(MSH2):c.-20G>C	MSH2	Single nucleotide variant (5 prime UTR variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GConflicting classifications of pathogenicity
Select item 922817	NM_000251.3(MSH2):c.-18A>C	MSH2	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 491738	NM_000251.3(MSH2):c.-18A>G	MSH2	Single nucleotide variant (5 prime UTR variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GConflicting classifications of pathogenicity
Select item 491737	NM_000251.3(MSH2):c.-15T>G	MSH2	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 927716	NM_000251.3(MSH2):c.-14G>A	MSH2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
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 491736	NM_000251.3(MSH2):c.-11G>C	MSH2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
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 922849	NM_000251.3(MSH2):c.-10A>C	MSH2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +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 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 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 628499	NM_000251.3(MSH2):c.-7T>A	MSH2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
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 485838	NM_000251.3(MSH2):c.-4C>T	MSH2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 127624	NM_000251.3(MSH2):c.-3G>C	MSH2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 229838	NM_000251.3(MSH2):c.-1C>T	MSH2	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 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 1391143	NM_000251.3(MSH2):c.2T>C (p.Met1Thr)	MSH2 (M1T)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 230889	NM_000251.3(MSH2):c.2T>G (p.Met1Arg)	MSH2 (M1R)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	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 186298	NM_000251.3(MSH2):c.5C>A (p.Ala2Glu)	MSH2 (A2E)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 134840	NM_000251.3(MSH2):c.5C>T (p.Ala2Val)	MSH2 (A2V)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +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)	Hereditary nonpolyposis colorectal neoplasms +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 630046	NM_000251.3(MSH2):c.7G>T (p.Val3Leu)	MSH2 (V3L)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 582790	NM_000251.3(MSH2):c.7G>A (p.Val3Met)	MSH2 (V3M)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 237357	NM_000251.3(MSH2):c.10C>A (p.Gln4Lys)	MSH2 (Q4K)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
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)	Hereditary cancer-predisposing syndrome +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)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 491778	NM_000251.3(MSH2):c.15G>T (p.Pro5=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 491777	NM_000251.3(MSH2):c.15G>A (p.Pro5=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
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 926425	NM_000251.3(MSH2):c.19G>A (p.Glu7Lys)	MSH2 (E7K)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +2 more	GUncertain significance
Select item 820493	NM_000251.3(MSH2):c.19G>T (p.Glu7Ter)	MSH2 (E7*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 408481	NM_000251.3(MSH2):c.20A>G (p.Glu7Gly)	MSH2 (E7G)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 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 cancer-predisposing syndrome +2 more	GLikely benign
Select item 408516	NM_000251.3(MSH2):c.23C>G (p.Thr8Arg)	MSH2 (T8R)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
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 920187	NM_000251.3(MSH2):c.25C>A (p.Leu9Met)	MSH2 (L9M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 924450	NM_000251.3(MSH2):c.30G>A (p.Gln10=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
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 570008	NM_000251.3(MSH2):c.36G>C (p.Glu12Asp)	MSH2 (E12D)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 245828	NM_000251.3(MSH2):c.38G>A (p.Ser13Asn)	MSH2 (S13N)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +3 more	GConflicting classifications of pathogenicity
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 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 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 927599	NM_000251.3(MSH2):c.44C>T (p.Ala15Val)	MSH2 (A15V)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 918937	NM_000251.3(MSH2):c.45C>G (p.Ala15=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 231457	NM_000251.3(MSH2):c.45C>T (p.Ala15=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 483745	NM_000251.3(MSH2):c.48G>A (p.Glu16=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
Select item 408552	NM_000251.3(MSH2):c.48G>C (p.Glu16Asp)	MSH2 (E16D)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +2 more	GUncertain significance
Select item 491829	NM_000251.3(MSH2):c.49G>A (p.Val17Ile)	MSH2 (V17I)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 42497	NM_000251.3(MSH2):c.51C>T (p.Val17=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
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 182595	NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)	MSH2 (F19L)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 926426	NM_000251.3(MSH2):c.57C>T (p.Phe19=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 489946	NM_000251.3(MSH2):c.58G>A (p.Val20Met)	MSH2 (V20M)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 483709	NM_000251.3(MSH2):c.60G>A (p.Val20=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 419807	NM_000251.3(MSH2):c.62G>T (p.Arg21Leu)	MSH2 (R21L)	Single nucleotide variant (missense variant +1 more)	not provided +4 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 489952	NM_000251.3(MSH2):c.64T>C (p.Phe22Leu)	MSH2 (F22L)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
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 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 455610	NM_000251.3(MSH2):c.70C>G (p.Gln24Glu)	MSH2 (Q24E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 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 920938	NM_000251.3(MSH2):c.71A>G (p.Gln24Arg)	MSH2 (Q24R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 927851	NM_000251.3(MSH2):c.72G>A (p.Gln24=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	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)	Hereditary cancer-predisposing 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 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 231095	NM_000251.3(MSH2):c.89C>G (p.Pro30Arg)	MSH2 (P30R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 185140	NM_000251.3(MSH2):c.89C>T (p.Pro30Leu)	MSH2 (P30L)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 918909	NM_000251.3(MSH2):c.96dup (p.Thr33fs)	MSH2 (T33fs)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 491853	NM_000251.3(MSH2):c.94A>T (p.Thr32Ser)	MSH2 (T32S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 1448755	NM_000251.3(MSH2):c.98C>T (p.Thr33Ile)	MSH2 (T33I)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 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 422949	NM_000251.3(MSH2):c.103C>G (p.Arg35Gly)	MSH2 (R35G)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 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 cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity

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