Related gene-specific medical variations for Gene (Select 4436) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296232	NM_000251.1:c.1075_1076delAG	MSH2	Deletion	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3287673	NM_022055.2(KCNK12):c.713T>A (p.Val238Glu)	KCNK12, MSH2 (V238E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287672	NM_022055.2(KCNK12):c.250G>C (p.Gly84Arg)	KCNK12, MSH2 (G84R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3257738	NM_000251.3(MSH2):c.2491dup (p.Ala831fs)	MSH2 (A532fs +8 more)	Duplication (frameshift variant +1 more)	Lynch syndrome 1 +1 more	GLikely pathogenic
Select item 3247119	NC_000002.11:g.(?_47709916)_(47710092_?)dup	MSH2	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3247118	NC_000002.11:g.(?_47707880)_(47715327_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247114	NC_000002.11:g.(?_47636708)_(47637359_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247113	NC_000002.11:g.(?_47702661)_(47703586_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247112	NC_000002.11:g.(?_47630436)_(47634311_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GLikely pathogenic
Select item 3247111	NC_000002.11:g.(?_47628887)_(47630425_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GLikely pathogenic
Select item 3247110	NC_000002.11:g.(?_47669476)_(47690303_?)dup	MSH2	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3247109	NC_000002.11:g.(?_47641398)_(47657100_?)dup	MSH2	Duplication	Hereditary nonpolyposis colorectal neoplasms	GLikely pathogenic
Select item 3247108	NC_000002.11:g.(?_47639543)_(47643578_?)dup	MSH2	Duplication	Hereditary nonpolyposis colorectal neoplasms	GLikely pathogenic
Select item 3247107	NC_000002.11:g.(?_47635062)_(47643578_?)dup	MSH2	Duplication	Hereditary nonpolyposis colorectal neoplasms	GLikely pathogenic
Select item 3247103	NC_000002.11:g.(?_47690150)_(47710088_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247102	NC_000002.11:g.(?_47656861)_(47672816_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247101	NC_000002.11:g.(?_47637213)_(47672816_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247100	NC_000002.11:g.(?_47637213)_(47643588_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247099	NC_000002.11:g.(?_47637223)_(47693957_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247098	NC_000002.11:g.(?_47635062)_(47657090_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247097	NC_000002.11:g.(?_47635062)_(47637521_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247096	NC_000002.11:g.(?_47698094)_(47702419_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247095	NC_000002.11:g.(?_47630249)_(47643588_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247094	NC_000002.11:g.(?_47630150)_(47639709_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247092	NC_000002.11:g.(?_47630249)_(47635704_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247091	NC_000002.11:g.(?_47669476)_(47672816_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247090	NC_000002.11:g.(?_47653029)_(47657100_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247089	NC_000002.11:g.(?_47635062)_(47635704_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247087	NC_000002.11:g.(?_47630249)_(47710088_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3242335	GRCh37/hg19 2p21(chr2:47647487-47663434)x1	MSH2	Copy number loss	not provided	GLikely pathogenic
Select item 3239763	NM_000251.3(MSH2):c.1474A>C (p.Met492Leu)	MSH2 (M193L +8 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GUncertain significance
Select item 3239761	NM_000251.3(MSH2):c.1944T>G (p.Ile648Met)	MSH2 (I196M +8 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 1	GUncertain significance
Select item 3239760	NM_000251.3(MSH2):c.870A>C (p.Glu290Asp)	MSH2 (E150D +4 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 1	GUncertain significance
Select item 3239759	NM_000251.3(MSH2):c.1256A>G (p.Gln419Arg)	MSH2 (Q120R +6 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 1	GUncertain significance
Select item 3239758	NM_000251.3(MSH2):c.1282C>T (p.His428Tyr)	MSH2 (H129Y +6 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 1	GUncertain significance
Select item 3239756	NM_000251.3(MSH2):c.449_454delinsCGGACATTT (p.Val150_Met152delinsAlaAspIleLeu)	MSH2	Indel (inframe_indel +2 more)	Lynch syndrome 1	GUncertain significance
Select item 3239754	NM_000251.3(MSH2):c.690_693delinsCT (p.Asp231fs)	MSH2 (D165fs +3 more)	Indel (frameshift variant +2 more)	Lynch syndrome 1	GLikely pathogenic
Select item 3113363	NM_022055.2(KCNK12):c.7T>A (p.Ser3Thr)	KCNK12, MSH2 (S3T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113362	NM_022055.2(KCNK12):c.612C>G (p.Asp204Glu)	KCNK12, MSH2 (D204E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113361	NM_022055.2(KCNK12):c.296C>T (p.Ala99Val)	KCNK12, MSH2 (A99V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113360	NM_022055.2(KCNK12):c.1202G>A (p.Cys401Tyr)	KCNK12, LOC129933697 +1 more (C401Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065347	NM_000251.3(MSH2):c.211G>A (p.Gly71Arg)	MSH2 (D71N +2 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 1	GLikely pathogenic
Select item 3064831	NM_000251.3(MSH2):c.1418C>A (p.Ser473Ter)	MSH2 (S174* +8 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome 1	GUncertain significance
Select item 2691716	NM_000251.3:c.(1759+1_1760-1)_(2458+1_2459-1)del	MSH2	Deletion	Lynch syndrome 1	GPathogenic
Select item 2687862	NM_001406638.1(MSH2):c.*90G>A	KCNK12, MSH2 (G449R +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer	GLikely benign
Select item 2682010	NM_000251.3(MSH2):c.2758A>T (p.Asn920Tyr)	MSH2 (N468Y +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2682009	NM_000251.3(MSH2):c.2216C>T (p.Ala739Val)	MSH2 (A287V +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2682008	NM_000251.3(MSH2):c.1964T>C (p.Val655Ala)	MSH2 (V203A +8 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2682007	NM_000251.3(MSH2):c.120C>T (p.Gly40=)	MSH2	Single nucleotide variant (synonymous variant +3 more)	not provided	GUncertain significance
Select item 2676722	NM_000251.3(MSH2):c.1527dup (p.Gln510fs)	MSH2 (Q211fs +8 more)	Duplication (frameshift variant +1 more)	Lynch syndrome 1	GLikely pathogenic
Select item 2676721	NM_000251.3(MSH2):c.367-3T>A	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome 1	GUncertain significance
Select item 2676719	NM_000251.3(MSH2):c.2236_2237dup (p.Ile747fs)	MSH2 (I295fs +8 more)	Duplication (frameshift variant +1 more)	Lynch syndrome 1	GLikely pathogenic
Select item 2676717	NM_000251.3(MSH2):c.2573G>C (p.Gly858Ala)	MSH2 (G406A +8 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GUncertain significance
Select item 2676716	NM_000251.3(MSH2):c.557A>C (p.Asn186Thr)	MSH2 (N120T +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 1	GUncertain significance
Select item 2676714	NM_000251.3(MSH2):c.2312C>A (p.Ala771Glu)	MSH2 (A319E +8 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GUncertain significance
Select item 2676713	NM_000251.3(MSH2):c.1696A>C (p.Asn566His)	MSH2 (N114H +8 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 1	GUncertain significance
Select item 2676712	NM_000251.3(MSH2):c.1396C>G (p.His466Asp)	MSH2 (H14D +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Lynch syndrome 1	GUncertain significance
Select item 2676711	NM_000251.3(MSH2):c.652C>A (p.Gln218Lys)	MSH2 (Q152K +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 1	GUncertain significance
Select item 2676708	NM_000251.3(MSH2):c.2488G>T (p.Val830Phe)	MSH2 (V378F +8 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GUncertain significance
Select item 2650880	NM_001406638.1(MSH2):c.*83A>G	KCNK12, MSH2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2624216	NM_022055.2(KCNK12):c.435C>G (p.Phe145Leu)	KCNK12, MSH2 (F145L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2578854	NM_022055.2(KCNK12):c.598C>T (p.Leu200Phe)	KCNK12, MSH2 (L200F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2575964	NM_000251.3(MSH2):c.680dup (p.Ala230fs)	MSH2 (A164fs +3 more)	Duplication (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 2574135	NM_000251.3(MSH2):c.1077-1865_1276+742del	MSH2	Deletion (splice acceptor variant +1 more)	Lynch syndrome 1	GPathogenic
Select item 2569358	NM_022055.2(KCNK12):c.545G>A (p.Arg182His)	KCNK12, MSH2 (R182H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546624	NM_022055.2(KCNK12):c.8C>T (p.Ser3Phe)	KCNK12, MSH2 (S3F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541680	NM_022055.2(KCNK12):c.520T>C (p.Phe174Leu)	KCNK12, MSH2 (F174L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534203	NM_022055.2(KCNK12):c.613A>T (p.Ser205Cys)	KCNK12, MSH2 (S205C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2534202	NM_022055.2(KCNK12):c.37A>T (p.Ser13Cys)	KCNK12, MSH2 (S13C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2445291	NM_000251.3(MSH2):c.1711G>A (p.Glu571Lys)	MSH2 (E119K +8 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2305988	NM_022055.2(KCNK12):c.587G>A (p.Arg196His)	KCNK12, MSH2 (R196H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251129	NM_022055.2(KCNK12):c.1069A>C (p.Ser357Arg)	KCNK12, LOC129933697 +1 more (S357R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231599	NM_022055.2(KCNK12):c.1073A>C (p.Asp358Ala)	KCNK12, LOC129933697 +1 more (D358A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216168	NM_022055.2(KCNK12):c.1067A>C (p.Asp356Ala)	KCNK12, LOC129933697 +1 more (D356A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206318	NM_022055.2(KCNK12):c.1286C>G (p.Ser429Cys)	KCNK12, MSH2 (S429C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809534	NM_000251.2:c.-125_1076del	MSH2	Deletion	not provided	GPathogenic
Select item 1809523	NM_000251.3(MSH2):c.922_925dup (p.Ala309fs)	MSH2 (A243fs +1 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 1809517	NM_000251.2:c.1760_2458del	MSH2	Deletion	not provided	GLikely pathogenic
Select item 1786245	NM_000251.1:c.212-15_212-14insALU	MSH2	Insertion	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1772720	NM_000251.1:c.1442_1443insALU	MSH2	Insertion	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1705982	NG_007110.2:g.(?_47707835)_(47708005_?)dup	MSH2	Duplication	Hereditary nonpolyposis colon cancer	GPathogenic
Select item 1332890	NM_000251.3(MSH2):c.2185_2192delinsCCCT (p.Met729fs)	MSH2 (M663fs +1 more)	Indel (frameshift variant)	Lynch syndrome 1	Gnot provided
Select item 1330069	NM_000251.3(MSH2):c.1371T>G (p.Thr457=)	MSH2	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1324738	NM_000251.3(MSH2):c.215C>A (p.Ala72Glu)	MSH2 (A6E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1324737	NM_000251.3(MSH2):c.2062A>G (p.Met688Val)	MSH2 (M622V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1319484	NM_000251.3(MSH2):c.2040del (p.Gln681fs)	MSH2 (Q615fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1319482	NM_000251.3(MSH2):c.538del (p.Asp180fs)	MSH2 (D114fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1299337	NM_000251.3:c.(1662+1_1663-1)_(2805+1_?)del	MSH2	Deletion	Lynch syndrome 1	GPathogenic
Select item 1065556	NM_000251.1:c.(366+1_367-1)_(1076+1_1077-1)dup	MSH2	Duplication	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 996774	NM_000251.3(MSH2):c.1831_1846del (p.Val611fs)	MSH2 (V545fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 984390	NM_000251.2(MSH2):c.793-?_1276+?dup	MSH2	Duplication	Lynch syndrome	GLikely pathogenic
Select item 932567	NM_000251.3(MSH2):c.1880A>T (p.Lys627Ile)	MSH2 (K561I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 927421	NC_000002.12:g.47512371G>T	KCNK12, MSH2	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 927126	NC_000002.12:g.47512439G>C	KCNK12, MSH2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 926549	NC_000002.12:g.47512393C>T	KCNK12, MSH2	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GBenign
Select item 926048	NC_000002.12:g.47512435C>G	KCNK12, MSH2	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GBenign
Select item 926047	NC_000002.12:g.47512428C>T	KCNK12, MSH2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 921422	NC_000002.12:g.47512367G>T	KCNK12, MSH2	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GBenign
Select item 920227	NC_000002.12:g.47512372G>T	KCNK12, MSH2	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GBenign
Select item 919550	NC_000002.12:g.47512363C>G	KCNK12, MSH2	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance

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