ClinVar for Gene (Select 2956) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25775791.	NM_000179.3(MSH6):c.3064GAA[1] (p.Glu1023del) GRCh37: Chr2:48028186-48028188 GRCh38: Chr2:47801047-47801049	MSH6	E1023del, E1025del, E1055del, E338del, E721del, E848del, E893del, E924del, E967del, E997del	not provided	Uncertain significance (Feb 27, 2023)	criteria provided, single submitter
Select item 25773492.	NM_001190274.2(FBXO11):c.2655-14T>G GRCh37: Chr2:48035400 GRCh38: Chr2:47808261	FBXO11, MSH6		not specified	Uncertain significance (Jul 3, 2023)	criteria provided, single submitter
Select item 25773483.	NM_001190274.2(FBXO11):c.2728G>T (p.Asp910Tyr) GRCh37: Chr2:48035313 GRCh38: Chr2:47808174	FBXO11, MSH6	D826Y, D910Y	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	Likely pathogenic (Jul 28, 2023)	criteria provided, single submitter
Select item 25768824.	NM_000179.3(MSH6):c.2725T>G (p.Leu909Val) GRCh37: Chr2:48027847 GRCh38: Chr2:47800708	MSH6	L224V, L607V, L734V, L779V, L810V, L853V, L883V, L909V, L911V, L941V	not provided	Uncertain significance (Feb 16, 2023)	criteria provided, single submitter
Select item 25767835.	NM_000179.3(MSH6):c.311C>G (p.Pro104Arg) GRCh37: Chr2:48018116 GRCh38: Chr2:47790977	MSH6	P104R, P136R, P48R, P5R, P78R	not provided	Uncertain significance (Feb 16, 2023)	criteria provided, single submitter
Select item 25753866.	NM_000179.3(MSH6):c.4002-33A>C GRCh37: Chr2:48033885 GRCh38: Chr2:47806746	MSH6		not specified	Likely benign (Aug 15, 2023)	criteria provided, single submitter
Select item 25753857.	NM_000179.3(MSH6):c.4002-32_4002-29del GRCh37: Chr2:48033883-48033886 GRCh38: Chr2:47806744-47806747	MSH6		not specified	Likely benign (Aug 15, 2023)	criteria provided, single submitter
Select item 25753838.	NM_000179.3(MSH6):c.4001+41_4001+48dup GRCh37: Chr2:48033830-48033831 GRCh38: Chr2:47806691-47806692	MSH6		not specified	Likely benign (Aug 15, 2023)	criteria provided, single submitter
Select item 25753829.	NM_000179.3(MSH6):c.4001+42_4001+46dup GRCh37: Chr2:48033829-48033830 GRCh38: Chr2:47806690-47806691	MSH6		not specified	Benign (Aug 15, 2023)	criteria provided, single submitter
Select item 257538110.	NM_000179.3(MSH6):c.3801+23C>T GRCh37: Chr2:48033520 GRCh38: Chr2:47806381	MSH6		not specified	Likely benign (Aug 15, 2023)	criteria provided, single submitter
Select item 257538011.	NM_000179.3(MSH6):c.3734T>C (p.Phe1245Ser) GRCh37: Chr2:48033430 GRCh38: Chr2:47806291	MSH6	F1070S, F1115S, F1146S, F1187S, F1189S, F1219S, F1245S, F1247S, F1277S, F172S, F194S, F560S, F723S, F943S, F957S	not specified	Uncertain significance (Aug 15, 2023)	criteria provided, single submitter
Select item 257537912.	NM_000179.3(MSH6):c.3589A>G (p.Thr1197Ala) GRCh37: Chr2:48032789 GRCh38: Chr2:47805650	MSH6	T1022A, T1067A, T1098A, T1139A, T1141A, T1171A, T1197A, T1199A, T1229A, T124A, T146A, T512A, T675A, T895A, T909A	not specified	Uncertain significance (Aug 15, 2023)	criteria provided, single submitter
Select item 257537813.	NM_000179.3(MSH6):c.3557-49A>C GRCh37: Chr2:48032708 GRCh38: Chr2:47805569	MSH6		not specified	Likely benign (Aug 15, 2023)	criteria provided, single submitter
Select item 257537714.	NM_000179.3(MSH6):c.3532_3533insTATG (p.Gly1178fs) GRCh37: Chr2:48032140-48032141 GRCh38: Chr2:47805001-47805002	MSH6	G1003fs, G1048fs, G105fs, G1079fs, G1120fs, G1122fs, G1152fs, G1178fs, G1180fs, G1210fs, G127fs, G493fs, G656fs, G876fs, G890fs	not provided	Pathogenic (Aug 15, 2023)	criteria provided, single submitter
Select item 257537615.	NM_000179.3(MSH6):c.3173-41C>A GRCh37: Chr2:48030518 GRCh38: Chr2:47803379	MSH6		not specified	Likely benign (Aug 15, 2023)	criteria provided, single submitter
Select item 257537516.	NM_000179.3(MSH6):c.2982C>A (p.Tyr994Ter) GRCh37: Chr2:48028104 GRCh38: Chr2:47800965	MSH6	Y1026, Y309, Y692, Y819, Y864, Y895, Y938, Y968, Y994, Y996	not provided	Pathogenic (Aug 15, 2023)	criteria provided, single submitter
Select item 257537417.	NM_000179.3(MSH6):c.2849G>C (p.Ser950Thr) GRCh37: Chr2:48027971 GRCh38: Chr2:47800832	MSH6	S265T, S648T, S775T, S820T, S851T, S894T, S924T, S950T, S952T, S982T	not specified	Uncertain significance (Aug 15, 2023)	criteria provided, single submitter
Select item 257537218.	NM_000179.3(MSH6):c.997dup (p.Thr333fs) GRCh37: Chr2:48026116-48026117 GRCh38: Chr2:47798977-47798978	MSH6	T158fs, T203fs, T234fs, T277fs, T307fs, T31fs, T333fs, T335fs, T365fs	not provided	Pathogenic (Aug 15, 2023)	criteria provided, single submitter
Select item 257537119.	NM_000179.3(MSH6):c.457+31_457+34del GRCh37: Chr2:48018290-48018293 GRCh38: Chr2:47791151-47791154	MSH6		not specified	Likely benign (Aug 15, 2023)	criteria provided, single submitter
Select item 257537020.	NM_000179.3(MSH6):c.457+23G>A GRCh37: Chr2:48018285 GRCh38: Chr2:47791146	MSH6		not specified	Likely benign (Aug 15, 2023)	criteria provided, single submitter
Select item 257524021.	NM_000179.3(MSH6):c.883A>T (p.Lys295Ter) GRCh37: Chr2:48026005 GRCh38: Chr2:47798866	MSH6	K120, K165, K196, K239, K269, K295, K297, K327	Endometrial carcinoma	Pathogenic (Aug 15, 2023)	criteria provided, single submitter
Select item 257476622.	NM_001190274.2(FBXO11):c.2365G>A (p.Ala789Thr) GRCh37: Chr2:48036820 GRCh38: Chr2:47809681	FBXO11, MSH6	A705T, A789T	not provided	Uncertain significance (Feb 7, 2023)	criteria provided, single submitter
Select item 257396423.	NM_000179.3(MSH6):c.1315G>T (p.Asp439Tyr) GRCh37: Chr2:48026437 GRCh38: Chr2:47799298	MSH6	D137Y, D264Y, D309Y, D340Y, D383Y, D413Y, D439Y, D441Y, D471Y	not provided	Uncertain significance (Jan 19, 2023)	criteria provided, single submitter
Select item 257338024.	NM_000179.3(MSH6):c.3594C>A (p.Ala1198=) GRCh37: Chr2:48032794 GRCh38: Chr2:47805655	MSH6		not specified	Likely benign (Jun 20, 2023)	criteria provided, single submitter
Select item 257330025.	NM_000179.3(MSH6):c.3378del (p.Ala1127fs) GRCh37: Chr2:48030762 GRCh38: Chr2:47803623	MSH6	A1028fs, A1069fs, A1071fs, A1101fs, A1127fs, A1129fs, A1159fs, A442fs, A54fs, A605fs, A76fs, A825fs, A839fs, A952fs, A997fs	Lynch syndrome 5	Pathogenic (Feb 7, 2023)	criteria provided, single submitter
Select item 257325726.	NM_000179.3(MSH6):c.3602_3614delinsACA (p.Leu1201fs) GRCh37: Chr2:48032802-48032814 GRCh38: Chr2:47805663-47805675	MSH6	L1026fs, L1071fs, L1102fs, L1143fs, L1145fs, L1175fs, L1201fs, L1203fs, L1233fs, L128fs, L150fs, L516fs, L679fs, L899fs, L913fs	Hereditary nonpolyposis colon cancer, Lynch syndrome 5	Pathogenic (Jun 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 257324127.	NM_000179.3(MSH6):c.1940dup (p.Ser648fs) GRCh37: Chr2:48027061-48027062 GRCh38: Chr2:47799922-47799923	MSH6	S346fs, S473fs, S518fs, S549fs, S592fs, S622fs, S648fs, S650fs, S680fs	Lynch syndrome 5	Pathogenic (Mar 21, 2023)	criteria provided, single submitter
Select item 257312428.	NM_000179.3(MSH6):c.1897A>T (p.Thr633Ser) GRCh37: Chr2:48027019 GRCh38: Chr2:47799880	MSH6	T331S, T458S, T503S, T534S, T577S, T607S, T633S, T635S, T665S	Hereditary cancer-predisposing syndrome	Uncertain significance (Mar 30, 2023)	criteria provided, single submitter
Select item 257278929.	NM_000179.3(MSH6):c.3691GTT[3] (p.Val1232_Lys1233insVal) GRCh37: Chr2:48033386-48033387 GRCh38: Chr2:47806247-47806248	MSH6		not provided	Uncertain significance (Jan 11, 2023)	criteria provided, single submitter
Select item 257107830.	NM_000179.3(MSH6):c.353_354insTC (p.Phe119fs) GRCh37: Chr2:48018157-48018158 GRCh38: Chr2:47791018-47791019	MSH6	F119fs, F151fs, F20fs, F63fs, F93fs	not provided	Pathogenic (May 1, 2023)	criteria provided, single submitter
Select item 256749631.	NM_000179.3(MSH6):c.3191C>A (p.Ala1064Asp) GRCh37: Chr2:48030577 GRCh38: Chr2:47803438	MSH6	A1064D, A13D, A379D, A889D, A965D, A1038D, A776D, A934D, A1008D, A1096D, A542D, A762D, A1066D	Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 10, 2023)	criteria provided, single submitter
Select item 256749532.	NM_000179.3(MSH6):c.635C>G (p.Thr212Arg) GRCh37: Chr2:48025757 GRCh38: Chr2:47798618	MSH6	T37R, T82R, T212R, T214R, T244R, T113R, T156R, T186R	Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 10, 2023)	criteria provided, single submitter
Select item 256749433.	NM_000179.3(MSH6):c.861T>G (p.Ser287Arg) GRCh37: Chr2:48025983 GRCh38: Chr2:47798844	MSH6	S157R, S231R, S287R, S112R, S188R, S289R, S261R, S319R	Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 8, 2023)	criteria provided, single submitter
Select item 256749234.	NM_000179.3(MSH6):c.342C>A (p.Pro114=) GRCh37: Chr2:48018147 GRCh38: Chr2:47791008	MSH6		Hereditary cancer-predisposing syndrome	Likely benign (Jun 1, 2023)	criteria provided, single submitter
Select item 256749135.	NM_000179.3(MSH6):c.2714T>C (p.Leu905Ser) GRCh37: Chr2:48027836 GRCh38: Chr2:47800697	MSH6	L603S, L849S, L879S, L937S, L730S, L806S, L907S, L220S, L775S, L905S	Hereditary cancer-predisposing syndrome	Uncertain significance (May 31, 2023)	criteria provided, single submitter
Select item 256749036.	NM_000179.3(MSH6):c.3906A>G (p.Ala1302=) GRCh37: Chr2:48033695 GRCh38: Chr2:47806556	MSH6	Q1298R	Hereditary cancer-predisposing syndrome	Likely benign (May 28, 2023)	criteria provided, single submitter
Select item 256748937.	NM_000179.3(MSH6):c.162G>C (p.Gly54=) GRCh37: Chr2:48010534 GRCh38: Chr2:47783395	MSH6	G36A	Hereditary cancer-predisposing syndrome	Likely benign (May 28, 2023)	criteria provided, single submitter
Select item 256748738.	NM_000179.3(MSH6):c.1821A>C (p.Thr607=) GRCh37: Chr2:48026943 GRCh38: Chr2:47799804	MSH6		Hereditary cancer-predisposing syndrome	Likely benign (May 23, 2023)	criteria provided, single submitter
Select item 256748639.	NM_000179.3(MSH6):c.1399G>T (p.Gly467Cys) GRCh37: Chr2:48026521 GRCh38: Chr2:47799382	MSH6	G441C, G467C, G469C, G165C, G499C, G292C, G368C, G411C, G337C	Hereditary cancer-predisposing syndrome	Uncertain significance (May 18, 2023)	criteria provided, single submitter
Select item 256748540.	NM_000179.3(MSH6):c.3559G>A (p.Glu1187Lys) GRCh37: Chr2:48032759 GRCh38: Chr2:47805620	MSH6	E1057K, E1088K, E1129K, E1189K, E136K, E665K, E1131K, E502K, E1012K, E114K, E1161K, E1187K, E1219K, E885K, E899K	Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 7, 2023)	criteria provided, single submitter
Select item 256748441.	NM_000179.3(MSH6):c.3562A>G (p.Ser1188Gly) GRCh37: Chr2:48032762 GRCh38: Chr2:47805623	MSH6	S900G, S1058G, S503G, S666G, S1089G, S115G, S1162G, S1188G, S1220G, S886G, S1013G, S1130G, S1132G, S1190G, S137G	Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 4, 2023)	criteria provided, single submitter
Select item 256748342.	NM_000179.3(MSH6):c.1424A>C (p.Gln475Pro) GRCh37: Chr2:48026546 GRCh38: Chr2:47799407	MSH6	Q449P, Q475P, Q477P, Q300P, Q345P, Q173P, Q376P, Q507P, Q419P	Hereditary cancer-predisposing syndrome	Uncertain significance (May 15, 2023)	criteria provided, single submitter
Select item 256748243.	NM_000179.3(MSH6):c.876C>G (p.Ser292Arg) GRCh37: Chr2:48025998 GRCh38: Chr2:47798859	MSH6	S117R, S324R, S162R, S294R, S193R, S236R, S266R, S292R	Hereditary cancer-predisposing syndrome	Uncertain significance (May 12, 2023)	criteria provided, single submitter
Select item 256748144.	NM_000179.3(MSH6):c.756_761del (p.Asp253_Ser254del) GRCh37: Chr2:48025876-48025881 GRCh38: Chr2:47798737-47798742	MSH6		Hereditary cancer-predisposing syndrome	Uncertain significance (May 25, 2023)	criteria provided, single submitter
Select item 256748045.	NM_000179.3(MSH6):c.1649C>A (p.Ser550Tyr) GRCh37: Chr2:48026771 GRCh38: Chr2:47799632	MSH6	S420Y, S524Y, S582Y, S248Y, S494Y, S552Y, S375Y, S451Y, S550Y	Hereditary cancer-predisposing syndrome	Uncertain significance (May 8, 2023)	criteria provided, single submitter
Select item 256747946.	NM_000179.3(MSH6):c.1648T>C (p.Ser550Pro) GRCh37: Chr2:48026770 GRCh38: Chr2:47799631	MSH6	S420P, S494P, S524P, S248P, S375P, S552P, S582P, S451P, S550P	Hereditary cancer-predisposing syndrome	Uncertain significance (May 8, 2023)	criteria provided, single submitter
Select item 256747847.	NM_000179.3(MSH6):c.1648_1649delinsCA (p.Ser550His) GRCh37: Chr2:48026770-48026771 GRCh38: Chr2:47799631-47799632	MSH6	S375H, S420H, S582H, S451H, S552H, S524H, S248H, S494H, S550H	Hereditary cancer-predisposing syndrome	Uncertain significance (May 31, 2023)	criteria provided, single submitter
Select item 256747748.	NM_000179.3(MSH6):c.1199A>C (p.Glu400Ala) GRCh37: Chr2:48026321 GRCh38: Chr2:47799182	MSH6	E301A, E374A, E98A, E225A, E270A, E344A, E402A, E400A, E432A	Hereditary cancer-predisposing syndrome	Uncertain significance (May 8, 2023)	criteria provided, single submitter
Select item 256747649.	NM_000179.3(MSH6):c.2952T>A (p.Asn984Lys) GRCh37: Chr2:48028074 GRCh38: Chr2:47800935	MSH6	N1016K, N299K, N809K, N984K, N854K, N885K, N928K, N958K, N682K, N986K	Hereditary cancer-predisposing syndrome	Uncertain significance (May 24, 2023)	criteria provided, single submitter
Select item 256747550.	NM_000179.3(MSH6):c.3175G>C (p.Val1059Leu) GRCh37: Chr2:48030561 GRCh38: Chr2:47803422	MSH6	V1033L, V771L, V884L, V960L, V1003L, V1059L, V1061L, V537L, V757L, V1091L, V374L, V8L, V929L	Hereditary cancer-predisposing syndrome	Uncertain significance (May 24, 2023)	criteria provided, single submitter
Select item 256747451.	NM_000179.3(MSH6):c.2382C>T (p.Ala794=) GRCh37: Chr2:48027504 GRCh38: Chr2:47800365	MSH6		Hereditary cancer-predisposing syndrome	Likely benign (May 9, 2023)	criteria provided, single submitter
Select item 256747352.	NM_000179.3(MSH6):c.2790dup (p.Ala931fs) GRCh37: Chr2:48027909-48027910 GRCh38: Chr2:47800770-47800771	MSH6	A246fs, A931fs, A875fs, A905fs, A756fs, A933fs, A629fs, A801fs, A832fs, A963fs	Hereditary cancer-predisposing syndrome	Pathogenic (May 22, 2023)	criteria provided, single submitter
Select item 256747253.	NM_000179.3(MSH6):c.4002-21_4034del GRCh37: Chr2:48033896-48033949 GRCh38: Chr2:47806757-47806810	MSH6		Hereditary cancer-predisposing syndrome	Uncertain significance (May 16, 2023)	criteria provided, single submitter
Select item 256747154.	NM_000179.3(MSH6):c.3472_3479del (p.Cys1158fs) GRCh37: Chr2:48032080-48032087 GRCh38: Chr2:47804941-47804948	MSH6	C107fs, C1100fs, C856fs, C1102fs, C473fs, C636fs, C85fs, C1028fs, C1132fs, C1158fs, C1190fs, C983fs, C1059fs, C1160fs, C870fs	Hereditary cancer-predisposing syndrome	Pathogenic (May 12, 2023)	criteria provided, single submitter
Select item 256747055.	NM_000179.3(MSH6):c.1263dup (p.Asp422Ter) GRCh37: Chr2:48026382-48026383 GRCh38: Chr2:47799243-47799244	MSH6	D323, D366, D422, D247, D292, D424, D396, D454, D120*	Hereditary cancer-predisposing syndrome	Pathogenic (May 14, 2023)	criteria provided, single submitter
Select item 256746956.	NM_000179.3(MSH6):c.1249_1252dup (p.Ser418Ter) GRCh37: Chr2:48026369-48026370 GRCh38: Chr2:47799230-47799231	MSH6	S116, S392, S450, S243, S288, S362, S420, S319, S418*	Hereditary cancer-predisposing syndrome	Pathogenic (May 4, 2023)	criteria provided, single submitter
Select item 256746857.	NM_000179.3(MSH6):c.3008G>A (p.Cys1003Tyr) GRCh37: Chr2:48028130 GRCh38: Chr2:47800991	MSH6	C1005Y, C904Y, C947Y, C828Y, C977Y, C1003Y, C1035Y, C318Y, C701Y, C873Y	Hereditary cancer-predisposing syndrome	Uncertain significance (May 4, 2023)	criteria provided, single submitter
Select item 256746758.	NM_000179.3(MSH6):c.1967C>A (p.Pro656His) GRCh37: Chr2:48027089 GRCh38: Chr2:47799950	MSH6	P354H, P481H, P630H, P688H, P557H, P600H, P656H, P658H, P526H	Hereditary cancer-predisposing syndrome	Uncertain significance (Apr 18, 2023)	criteria provided, single submitter
Select item 256746659.	NM_000179.3(MSH6):c.3889A>C (p.Ser1297Arg) GRCh37: Chr2:48033678 GRCh38: Chr2:47806539	MSH6	K1292N, S1297R, S224R, S995R, S1009R, S1122R, S1241R, S1329R, S612R, S775R, S1167R, S1198R, S1239R, S1271R, S246R, S1299R	Hereditary cancer-predisposing syndrome	Uncertain significance (Apr 16, 2023)	criteria provided, single submitter
Select item 256746560.	NM_000179.3(MSH6):c.28T>A (p.Phe10Ile) GRCh37: Chr2:48010400 GRCh38: Chr2:47783261	MSH6	F10I	Hereditary cancer-predisposing syndrome	Uncertain significance (May 3, 2023)	criteria provided, single submitter
Select item 256746361.	NM_000179.3(MSH6):c.1169A>G (p.Asp390Gly) GRCh37: Chr2:48026291 GRCh38: Chr2:47799152	MSH6	D291G, D390G, D88G, D215G, D334G, D392G, D260G, D364G, D422G	Hereditary cancer-predisposing syndrome	Uncertain significance (Apr 7, 2023)	criteria provided, single submitter
Select item 256746262.	NM_000179.3(MSH6):c.2716A>T (p.Thr906Ser) GRCh37: Chr2:48027838 GRCh38: Chr2:47800699	MSH6	T604S, T807S, T850S, T731S, T776S, T906S, T938S, T880S, T908S, T221S	Hereditary cancer-predisposing syndrome	Uncertain significance (Apr 7, 2023)	criteria provided, single submitter
Select item 256746163.	NM_000179.3(MSH6):c.3948_3953delinsCC (p.His1317fs) GRCh37: Chr2:48033737-48033742 GRCh38: Chr2:47806598-47806603	MSH6	H1029fs, H1187fs, H244fs, H266fs, D1312fs, H1218fs, H1261fs, H632fs, H1142fs, H1259fs, H1319fs, H1015fs, H1291fs, H1317fs, H1349fs, H795fs	Hereditary cancer-predisposing syndrome	Likely pathogenic (Apr 25, 2023)	criteria provided, single submitter
Select item 256746064.	NM_000179.3(MSH6):c.3948A>C (p.Gly1316=) GRCh37: Chr2:48033737 GRCh38: Chr2:47806598	MSH6	D1312A	Hereditary cancer-predisposing syndrome	Likely benign (Apr 7, 2023)	criteria provided, single submitter
Select item 256745965.	NM_000179.3(MSH6):c.1864A>T (p.Ile622Leu) GRCh37: Chr2:48026986 GRCh38: Chr2:47799847	MSH6	I654L, I566L, I622L, I320L, I447L, I523L, I624L, I492L, I596L	Hereditary cancer-predisposing syndrome	Uncertain significance (Apr 20, 2023)	criteria provided, single submitter
Select item 256745866.	NM_000179.3(MSH6):c.1553C>G (p.Thr518Ser) GRCh37: Chr2:48026675 GRCh38: Chr2:47799536	MSH6	T216S, T518S, T550S, T388S, T419S, T492S, T343S, T462S, T520S	Hereditary cancer-predisposing syndrome	Uncertain significance (Apr 5, 2023)	criteria provided, single submitter
Select item 256745767.	NM_000179.3(MSH6):c.656G>A (p.Ser219Asn) GRCh37: Chr2:48025778 GRCh38: Chr2:47798639	MSH6	S221N, S120N, S219N, S163N, S44N, S193N, S251N, S89N	Hereditary cancer-predisposing syndrome	Uncertain significance (Apr 3, 2023)	criteria provided, single submitter
Select item 256745668.	NM_000179.3(MSH6):c.236C>A (p.Ser79Ter) GRCh37: Chr2:48010608 GRCh38: Chr2:47783469	MSH6	R61S, S79*	Hereditary cancer-predisposing syndrome	Pathogenic (Apr 19, 2023)	criteria provided, single submitter
Select item 256745569.	NM_000179.3(MSH6):c.2625G>A (p.Met875Ile) GRCh37: Chr2:48027747 GRCh38: Chr2:47800608	MSH6	M573I, M700I, M745I, M819I, M849I, M875I, M907I, M776I, M877I	Hereditary cancer-predisposing syndrome	Uncertain significance (Apr 12, 2023)	criteria provided, single submitter
Select item 256745470.	NM_000179.3(MSH6):c.3539C>T (p.Ser1180Leu) GRCh37: Chr2:48032149 GRCh38: Chr2:47805010	MSH6	S1050L, S107L, S1154L, S1182L, S658L, S892L, S1081L, S1122L, S1124L, S1212L, S495L, S1005L, S129L, S1180L, S878L	Hereditary cancer-predisposing syndrome	Uncertain significance (Apr 13, 2023)	criteria provided, single submitter
Select item 256745371.	NM_000179.3(MSH6):c.2310T>C (p.Gly770=) GRCh37: Chr2:48027432 GRCh38: Chr2:47800293	MSH6		Hereditary cancer-predisposing syndrome	Likely benign (Mar 26, 2023)	criteria provided, single submitter
Select item 256745272.	NM_000179.3(MSH6):c.1672G>T (p.Val558Leu) GRCh37: Chr2:48026794 GRCh38: Chr2:47799655	MSH6	V502L, V532L, V560L, V256L, V428L, V459L, V590L, V558L, V383L	Hereditary cancer-predisposing syndrome	Uncertain significance (Mar 24, 2023)	criteria provided, single submitter
Select item 256745173.	NM_000179.3(MSH6):c.3201T>G (p.Ser1067Arg) GRCh37: Chr2:48030587 GRCh38: Chr2:47803448	MSH6	S1069R, S16R, S382R, S765R, S1011R, S1041R, S1099R, S968R, S545R, S779R, S937R, S1067R, S892R	Hereditary cancer-predisposing syndrome	Uncertain significance (Mar 18, 2023)	criteria provided, single submitter
Select item 256745074.	NM_000179.3(MSH6):c.437G>C (p.Arg146Thr) GRCh37: Chr2:48018242 GRCh38: Chr2:47791103	MSH6	R120T, R47T, R178T, R146T, R90T	Hereditary cancer-predisposing syndrome	Uncertain significance (Mar 30, 2023)	criteria provided, single submitter
Select item 256744875.	NM_000179.3(MSH6):c.3802-4T>A GRCh37: Chr2:48033587 GRCh38: Chr2:47806448	MSH6		Hereditary cancer-predisposing syndrome	Likely benign (Mar 24, 2023)	criteria provided, single submitter
Select item 256744776.	NM_000179.3(MSH6):c.3168_3172+2del GRCh37: Chr2:48028288-48028294 GRCh38: Chr2:47801149-47801155	MSH6		Hereditary cancer-predisposing syndrome	Pathogenic (Mar 24, 2023)	criteria provided, single submitter
Select item 256744677.	NM_000179.3(MSH6):c.1270dup (p.Val424fs) GRCh37: Chr2:48026391-48026392 GRCh38: Chr2:47799252-47799253	MSH6	V424fs, V294fs, V325fs, V398fs, V426fs, V456fs, V122fs, V249fs, V368fs	Hereditary cancer-predisposing syndrome	Pathogenic (Mar 20, 2023)	criteria provided, single submitter
Select item 256245878.	NM_000179.3(MSH6):c.4001+5_4001+6insAGTTA GRCh37: Chr2:48033795-48033796 GRCh38: Chr2:47806656-47806657	MSH6		Hereditary cancer-predisposing syndrome	Uncertain significance (Apr 24, 2023)	criteria provided, single submitter
Select item 256245579.	NM_000179.3(MSH6):c.3863A>C (p.Lys1288Thr) GRCh37: Chr2:48033652 GRCh38: Chr2:47806513	MSH6	K1230T, K1320T, K603T, K1113T, K1288T, K1000T, K1189T, K1262T, K215T, K237T, K766T, K986T, K1158T, K1232T, K1290T, N1284H	Hereditary cancer-predisposing syndrome	Uncertain significance (May 19, 2023)	criteria provided, single submitter
Select item 256126980.	NM_000179.3(MSH6):c.3264del (p.Phe1088_Leu1089insTer) GRCh37: Chr2:48030650 GRCh38: Chr2:47803511	MSH6		Hereditary cancer-predisposing syndrome	Pathogenic (May 3, 2023)	criteria provided, single submitter
Select item 256126781.	NM_000179.3(MSH6):c.1476G>A (p.Met492Ile) GRCh37: Chr2:48026598 GRCh38: Chr2:47799459	MSH6	M190I, M317I, M492I, M494I, M436I, M362I, M393I, M466I, M524I	Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 4, 2023)	criteria provided, single submitter
Select item 256126682.	NM_000179.3(MSH6):c.632G>T (p.Gly211Val) GRCh37: Chr2:48025754 GRCh38: Chr2:47798615	MSH6	G185V, G36V, G112V, G213V, G243V, G155V, G211V, G81V	Hereditary cancer-predisposing syndrome	Uncertain significance (Mar 17, 2023)	criteria provided, single submitter
Select item 256126183.	NM_000179.3(MSH6):c.2220A>G (p.Leu740=) GRCh37: Chr2:48027342 GRCh38: Chr2:47800203	MSH6		Hereditary cancer-predisposing syndrome	Likely benign (Apr 30, 2023)	criteria provided, single submitter
Select item 256126084.	NM_000179.3(MSH6):c.1997C>T (p.Ser666Phe) GRCh37: Chr2:48027119 GRCh38: Chr2:47799980	MSH6	S567F, S364F, S668F, S698F, S491F, S536F, S610F, S666F, S640F	Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 13, 2023)	criteria provided, single submitter
Select item 256125685.	NM_000179.3(MSH6):c.2630A>T (p.Glu877Val) GRCh37: Chr2:48027752 GRCh38: Chr2:47800613	MSH6	E702V, E778V, E879V, E909V, E851V, E575V, E821V, E877V, E747V	Hereditary cancer-predisposing syndrome	Uncertain significance (May 18, 2023)	criteria provided, single submitter
Select item 256125386.	NM_000179.3(MSH6):c.489T>G (p.Gly163=) GRCh37: Chr2:48023064 GRCh38: Chr2:47795925	MSH6		Hereditary cancer-predisposing syndrome	Likely benign (Mar 26, 2023)	criteria provided, single submitter
Select item 256124987.	NM_000179.3(MSH6):c.81C>T (p.Ala27=) GRCh37: Chr2:48010453 GRCh38: Chr2:47783314	MSH6	P9L	Hereditary cancer-predisposing syndrome	Likely benign (May 4, 2023)	criteria provided, single submitter
Select item 254431188.	NM_000179.3(MSH6):c.1693C>G (p.Leu565Val) GRCh37: Chr2:48026815 GRCh38: Chr2:47799676	MSH6	L390V, L435V, L539V, L565V, L597V, L509V, L263V, L466V, L567V	Inborn genetic diseases	Uncertain significance (May 5, 2023)	criteria provided, single submitter
Select item 250574489.	NM_001190274.2(FBXO11):c.2476A>G (p.Ile826Val) GRCh37: Chr2:48036376 GRCh38: Chr2:47809237	FBXO11, MSH6	I742V, I826V	not provided	Uncertain significance (Dec 12, 2022)	criteria provided, single submitter
Select item 250285990.	NM_000179.3(MSH6):c.3522dup (p.Thr1175fs) GRCh37: Chr2:48032129-48032130 GRCh38: Chr2:47804990-47804991	MSH6	T1000fs, T102fs, T1045fs, T1076fs, T1117fs, T1119fs, T1149fs, T1175fs, T1177fs, T1207fs, T124fs, T490fs, T653fs, T873fs, T887fs	Lynch syndrome 1	Likely pathogenic	no assertion criteria provided
Select item 250285891.	NM_000179.3(MSH6):c.1998dup (p.Asp667Ter) GRCh37: Chr2:48027119-48027120 GRCh38: Chr2:47799980-47799981	MSH6	D365, D492, D537, D568, D611, D641, D667, D669, D699*	Lynch syndrome 1	Likely pathogenic	no assertion criteria provided
Select item 250285692.	NM_000179.3(MSH6):c.2308G>T (p.Gly770Cys) GRCh37: Chr2:48027430 GRCh38: Chr2:47800291	MSH6	D770Y, G468C, G595C, G640C, G671C, G714C, G744C, G770C, G772C, G802C	Lynch syndrome 1	Likely pathogenic	no assertion criteria provided
Select item 249882093.	NM_000179.3(MSH6):c.1435A>G (p.Lys479Glu) GRCh37: Chr2:48026557 GRCh38: Chr2:47799418	MSH6	K177E, K304E, K349E, K380E, K423E, K453E, K479E, K481E, K511E	not provided	Uncertain significance (Mar 1, 2023)	criteria provided, single submitter
Select item 249069794.	NM_000179.3(MSH6):c.2847G>C (p.Gln949His) GRCh37: Chr2:48027969 GRCh38: Chr2:47800830	MSH6	Q949H, Q264H, Q923H, Q951H, Q647H, Q774H, Q850H, Q893H, Q981H, Q819H	Hereditary cancer-predisposing syndrome	Uncertain significance (Jan 17, 2023)	criteria provided, single submitter
Select item 249065095.	NM_000179.3(MSH6):c.159T>G (p.Ala53=) GRCh37: Chr2:48010531 GRCh38: Chr2:47783392	MSH6	L35R	Hereditary cancer-predisposing syndrome	Likely benign (Jan 17, 2023)	criteria provided, single submitter
Select item 249062996.	NM_000179.3(MSH6):c.84A>C (p.Ser28=) GRCh37: Chr2:48010456 GRCh38: Chr2:47783317	MSH6	H10P	Hereditary cancer-predisposing syndrome	Likely benign (Jan 17, 2023)	criteria provided, single submitter
Select item 249060297.	NM_000179.3(MSH6):c.203A>T (p.Lys68Met) GRCh37: Chr2:48010575 GRCh38: Chr2:47783436	MSH6	K68M, R50W	Hereditary cancer-predisposing syndrome	Uncertain significance (Jan 2, 2023)	criteria provided, single submitter
Select item 249056398.	NM_000179.3(MSH6):c.90A>C (p.Glu30Asp) GRCh37: Chr2:48010462 GRCh38: Chr2:47783323	MSH6	E30D, K12T	Hereditary cancer-predisposing syndrome	Uncertain significance (Jan 17, 2023)	criteria provided, single submitter
Select item 249048399.	NM_000179.3(MSH6):c.145G>A (p.Ala49Thr) GRCh37: Chr2:48010517 GRCh38: Chr2:47783378	MSH6	A49T	Hereditary cancer-predisposing syndrome	Uncertain significance (Mar 8, 2023)	criteria provided, single submitter
Select item 2453218100.	NM_000179.3(MSH6):c.983G>A (p.Ser328Asn) GRCh37: Chr2:48026105 GRCh38: Chr2:47798966	MSH6	S153N, S272N, S302N, S198N, S229N, S330N, S26N, S328N, S360N	Hereditary cancer-predisposing syndrome	Uncertain significance (Mar 6, 2023)	criteria provided, single submitter

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