ClinVar Miner

List of variants in gene MSH6 reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 215
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HGVS dbSNP
NC_000002.12:g.(?_47803398)_(47803695_?)dup
NC_000002.12:g.(?_47805433)_(47806875_?)del
NC_000002.12:g.47799954_47804551del
NM_000179.2(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.2(MSH6):c.1128_1132del (p.Arg378_Arg379insTer) rs1114167801
NM_000179.2(MSH6):c.1135A>T (p.Arg379Ter) rs1432436629
NM_000179.2(MSH6):c.1252T>C (p.Ser418Pro) rs1251033858
NM_000179.2(MSH6):c.1255_1268del (p.Gln419fs) rs876661251
NM_000179.2(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.2(MSH6):c.1296T>G (p.Phe432Leu) rs863224614
NM_000179.2(MSH6):c.1304T>C (p.Leu435Pro) rs63751405
NM_000179.2(MSH6):c.1309dup (p.His437fs) rs1558661308
NM_000179.2(MSH6):c.1312dup (p.Met438fs) rs863225399
NM_000179.2(MSH6):c.1316A>G (p.Asp439Gly) rs786202363
NM_000179.2(MSH6):c.139_260+1878del
NM_000179.2(MSH6):c.1445G>C (p.Arg482Pro) rs773226008
NM_000179.2(MSH6):c.1513dup (p.Tyr505fs) rs1553412912
NM_000179.2(MSH6):c.1621A>C (p.Ser541Arg) rs587779778
NM_000179.2(MSH6):c.1691C>A (p.Ser564Ter) rs864622153
NM_000179.2(MSH6):c.1754T>C (p.Leu585Pro) rs587779220
NM_000179.2(MSH6):c.1805C>A (p.Ser602Ter) rs730881816
NM_000179.2(MSH6):c.1883G>A (p.Trp628Ter) rs863225401
NM_000179.2(MSH6):c.1912del (p.Glu639fs) rs1553413294
NM_000179.2(MSH6):c.2057G>A (p.Gly686Asp) rs587779227
NM_000179.2(MSH6):c.2061T>A (p.Cys687Ter) rs267608068
NM_000179.2(MSH6):c.2080T>C (p.Cys694Arg) rs587779228
NM_000179.2(MSH6):c.2092C>T (p.Gln698Ter) rs63750832
NM_000179.2(MSH6):c.2095G>T (p.Glu699Ter) rs1553413470
NM_000179.2(MSH6):c.2117T>C (p.Phe706Ser) rs587779231
NM_000179.2(MSH6):c.2124_2126dup (p.Tyr709Ter) rs1558664335
NM_000179.2(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000179.2(MSH6):c.2234T>A (p.Ile745Asn) rs1558664787
NM_000179.2(MSH6):c.2260dup (p.Thr754fs) rs1553413640
NM_000179.2(MSH6):c.2295C>G (p.Cys765Trp) rs63750985
NM_000179.2(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.2(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.2(MSH6):c.2559G>C (p.Lys853Asn) rs765873566
NM_000179.2(MSH6):c.260+1G>C rs1553408467
NM_000179.2(MSH6):c.260+2T>A rs1553408469
NM_000179.2(MSH6):c.260+2_260+3delinsAG rs1064794075
NM_000179.2(MSH6):c.260+3A>G rs1553408474
NM_000179.2(MSH6):c.260G>C (p.Ser87Thr) rs1114167734
NM_000179.2(MSH6):c.261-1G>C rs863225402
NM_000179.2(MSH6):c.2665C>T (p.Gln889Ter) rs1558666177
NM_000179.2(MSH6):c.2687_2690del (p.Lys896fs) rs1553414010
NM_000179.2(MSH6):c.2690dup (p.Asn897fs) rs1553414010
NM_000179.2(MSH6):c.2692_2693del (p.Asn897_Pro898insTer) rs1553414029
NM_000179.2(MSH6):c.2805_2806del (p.Asp936fs) rs863225403
NM_000179.2(MSH6):c.2906A>G (p.Tyr969Cys) rs63749919
NM_000179.2(MSH6):c.2926C>T (p.Arg976Cys) rs587782386
NM_000179.2(MSH6):c.2932C>T (p.Gln978Ter) rs587781372
NM_000179.2(MSH6):c.2983G>T (p.Glu995Ter) rs63750258
NM_000179.2(MSH6):c.309C>A (p.Tyr103Ter) rs1553410230
NM_000179.2(MSH6):c.3134_3140del (p.Lys1045fs) rs1553414544
NM_000179.2(MSH6):c.3154G>T (p.Glu1052Ter) rs765763906
NM_000179.2(MSH6):c.3163G>C (p.Ala1055Pro) rs587779254
NM_000179.2(MSH6):c.3172+1G>T rs587779255
NM_000179.2(MSH6):c.3172G>C (p.Asp1058His) rs863225404
NM_000179.2(MSH6):c.3173-1G>A rs397515875
NM_000179.2(MSH6):c.3173-1_3173del rs587779256
NM_000179.2(MSH6):c.3173-2A>C rs1553331242
NM_000179.2(MSH6):c.3185G>A (p.Cys1062Tyr) rs1558386797
NM_000179.2(MSH6):c.3188T>G (p.Leu1063Arg) rs1060502901
NM_000179.2(MSH6):c.3215_3222del (p.Gly1072fs) rs1057517552
NM_000179.2(MSH6):c.3226C>G (p.Arg1076Gly) rs63750617
NM_000179.2(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617
NM_000179.2(MSH6):c.3227G>A (p.Arg1076His) rs779617676
NM_000179.2(MSH6):c.3238_3239del (p.Leu1080fs) rs863225406
NM_000179.2(MSH6):c.3356_3358delinsGAT (p.Glu1119_Glu1120delinsGlyTer) rs1114167695
NM_000179.2(MSH6):c.3371dup (p.Asn1124fs) rs1553331659
NM_000179.2(MSH6):c.3379_3438+5del rs1553331676
NM_000179.2(MSH6):c.3400G>C (p.Gly1134Arg) rs1114167697
NM_000179.2(MSH6):c.3416G>T (p.Gly1139Val) rs1316409501
NM_000179.2(MSH6):c.3417C>T (p.Gly1139=) rs876660283
NM_000179.2(MSH6):c.3431T>G (p.Met1144Arg) rs864622607
NM_000179.2(MSH6):c.3438+1G>A rs267608096
NM_000179.2(MSH6):c.3438+2T>C rs1033749344
NM_000179.2(MSH6):c.3439-1G>T rs587779263
NM_000179.2(MSH6):c.3439-2A>T rs267608098
NM_000179.2(MSH6):c.3452C>A (p.Ala1151Asp) rs587782625
NM_000179.2(MSH6):c.3463C>T (p.Gln1155Ter) rs1553332166
NM_000179.2(MSH6):c.3469G>T (p.Gly1157Cys) rs587779264
NM_000179.2(MSH6):c.3476dup (p.Tyr1159Ter) rs587782111
NM_000179.2(MSH6):c.3477C>A (p.Tyr1159Ter) rs398123231
NM_000179.2(MSH6):c.3478G>T (p.Val1160Phe) rs376799914
NM_000179.2(MSH6):c.3485C>A (p.Ala1162Asp) rs587779935
NM_000179.2(MSH6):c.3528_3532del (p.Leu1177fs) rs863225408
NM_000179.2(MSH6):c.3556+1G>C rs1060502926
NM_000179.2(MSH6):c.3556+1del rs1064793489
NM_000179.2(MSH6):c.3556+3_3556+13del rs587779269
NM_000179.2(MSH6):c.3557-1G>C rs1114167723
NM_000179.2(MSH6):c.3557-1G>T rs1114167723
NM_000179.2(MSH6):c.3557-2A>T rs1558390582
NM_000179.2(MSH6):c.3574del (p.Val1192fs) rs1553332671
NM_000179.2(MSH6):c.3577G>A (p.Glu1193Lys) rs63751328
NM_000179.2(MSH6):c.3626_3627del (p.Leu1209fs) rs863225409
NM_000179.2(MSH6):c.3632T>C (p.Leu1211Pro) rs864622041
NM_000179.2(MSH6):c.3646+1G>T rs1553332772
NM_000179.2(MSH6):c.3646+1dup rs1553332768
NM_000179.2(MSH6):c.3646+2T>C rs1553332776
NM_000179.2(MSH6):c.3646G>A (p.Gly1216Arg) rs1114167690
NM_000179.2(MSH6):c.3646_3646+3del rs267608106
NM_000179.2(MSH6):c.3647-6_3647-1del rs267608112
NM_000179.2(MSH6):c.3647delG rs1064795629
NM_000179.2(MSH6):c.3656C>T (p.Thr1219Ile) rs63750949
NM_000179.2(MSH6):c.3660_3663dup (p.Phe1222fs) rs752404604
NM_000179.2(MSH6):c.3699_3702dup (p.Leu1235fs) rs193922343
NM_000179.2(MSH6):c.3701_3706dup (p.Glu1234_Leu1235dup) rs63750523
NM_000179.2(MSH6):c.3722G>A (p.Cys1241Tyr) rs1021631442
NM_000179.2(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.2(MSH6):c.3732_3735dup (p.Ser1246fs) rs1553333072
NM_000179.2(MSH6):c.3744_3773del (p.His1248_Ser1257del) rs863225412
NM_000179.2(MSH6):c.3757_3767del (p.Val1253fs) rs1553333093
NM_000179.2(MSH6):c.3798_3801+9del rs1553333168
NM_000179.2(MSH6):c.3801+1G>T rs876660943
NM_000179.2(MSH6):c.3801+1_3801+5del rs1553333175
NM_000179.2(MSH6):c.3801+1del rs1553333185
NM_000179.2(MSH6):c.3801+2T>C rs1558392617
NM_000179.2(MSH6):c.3802-7_3802-4del rs876661171
NM_000179.2(MSH6):c.3814_3827dup (p.Asp1277fs) rs1558393070
NM_000179.2(MSH6):c.3820G>T (p.Glu1274Ter) rs587779294
NM_000179.2(MSH6):c.3822dup (p.Cys1275fs) rs1553333346
NM_000179.2(MSH6):c.3837_3843del (p.Ser1279fs) rs1553333370
NM_000179.2(MSH6):c.3841_3847dup (p.Ile1283fs) rs1114167720
NM_000179.2(MSH6):c.3850dup (p.Thr1284fs) rs1553333421
NM_000179.2(MSH6):c.3900_3945dup (p.Gly1316Ter) rs1558393814
NM_000179.2(MSH6):c.3909_3913dup (p.Leu1305fs) rs1572747149
NM_000179.2(MSH6):c.3916_3926dup (p.Glu1310fs) rs1558393913
NM_000179.2(MSH6):c.3922_3944dup (p.Lys1315fs) rs1553333599
NM_000179.2(MSH6):c.3936_3951del (p.Ile1313fs) rs1553333635
NM_000179.2(MSH6):c.3939_3940dup (p.Gln1314fs) rs730881830
NM_000179.2(MSH6):c.3996_3999dup (p.Arg1334fs) rs1553333753
NM_000179.2(MSH6):c.3G>T (p.Met1Ile) rs876660095
NM_000179.2(MSH6):c.4001+1G>C rs1114167729
NM_000179.2(MSH6):c.4001+2T>C rs267608131
NM_000179.2(MSH6):c.4001G>C (p.Arg1334Pro) rs267608122
NM_000179.2(MSH6):c.4002-1G>A rs1302369946
NM_000179.2(MSH6):c.4002-2A>G rs878853745
NM_000179.2(MSH6):c.4004_4007dup (p.Cys1337fs) rs876658497
NM_000179.2(MSH6):c.4053_4081dup (p.Ter1361Leufs)
NM_000179.2(MSH6):c.457+1del rs876661125
NM_000179.2(MSH6):c.458-1G>A rs267608035
NM_000179.2(MSH6):c.458-1G>T rs267608035
NM_000179.2(MSH6):c.517_520del (p.Leu173fs) rs1553411419
NM_000179.2(MSH6):c.575_583del (p.Glu192_Ala194del) rs1558656674
NM_000179.2(MSH6):c.619G>T (p.Glu207Ter) rs1322095633
NM_000179.2(MSH6):c.627+1G>A rs1572716545
NM_000179.2(MSH6):c.628-2A>G rs1114167725
NM_000179.2(MSH6):c.908dup (p.Met303fs) rs1057517551
NM_000179.2:c.1-?_260+?dup
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro) rs63750741
NM_000179.3(MSH6):c.1357A>T (p.Lys453Ter)
NM_000179.3(MSH6):c.1372C>A (p.His458Asn)
NM_000179.3(MSH6):c.1483C>T rs587779212
NM_000179.3(MSH6):c.1615C>T rs1553412999
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs) rs267608064
NM_000179.3(MSH6):c.1730G>A (p.Arg577His) rs376220212
NM_000179.3(MSH6):c.1836dup (p.Leu613fs)
NM_000179.3(MSH6):c.1933del (p.Glu645fs) rs1558663559
NM_000179.3(MSH6):c.2419del (p.Glu807fs)
NM_000179.3(MSH6):c.24C>G (p.Tyr8Ter) rs746306598
NM_000179.3(MSH6):c.2561_2563delAGA rs587782858
NM_000179.3(MSH6):c.2927G>A (p.Arg976His) rs63751113
NM_000179.3(MSH6):c.3018C>A (p.Tyr1006Ter) rs1553414395
NM_000179.3(MSH6):c.3172+1G>C rs587779255
NM_000179.3(MSH6):c.3173-1G>C rs397515875
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3416dup rs587781544
NM_000179.3(MSH6):c.3439-2A>G rs267608098
NM_000179.3(MSH6):c.3556+2T>C
NM_000179.3(MSH6):c.3556+4_3556+8del rs1572739119
NM_000179.3(MSH6):c.3601C>G (p.Leu1201Val) rs182024561
NM_000179.3(MSH6):c.3646+2_3646+3insCT rs1269788253
NM_000179.3(MSH6):c.3646G>C (p.Gly1216Arg) rs1114167690
NM_000179.3(MSH6):c.3647-1G>C
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser) rs587779285
NM_000179.3(MSH6):c.3724_3726del rs63749942
NM_000179.3(MSH6):c.3729_3731ATT[1] (p.Leu1244del) rs876658650
NM_000179.3(MSH6):c.3733_3739dup (p.Thr1247fs)
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.3(MSH6):c.3851_3871del (p.Thr1284_Ile1290del) rs1572746651
NM_000179.3(MSH6):c.3920_3923dup (p.Pro1309fs) rs1572747278
NM_000179.3(MSH6):c.3952A>T (p.Arg1318Ter) rs1572747685
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.3(MSH6):c.4002-6_4002-1del
NM_000179.3(MSH6):c.4008_4009dup (p.Cys1337fs)
NM_000179.3(MSH6):c.628-2A>T
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter) rs146816935
NM_001281492.1(MSH6):c.1216_1219AGTA[1] (p.Lys407fs) rs863224829
NM_001281492.1(MSH6):c.1225_1227CTT[1] (p.Leu410del) rs1064793600
NM_001281492.1(MSH6):c.1912_1914del (p.Pro638del) rs63750647
NM_001281492.1(MSH6):c.2145dup (p.Glu716Ter) rs587779241
NM_001281492.1(MSH6):c.215_237+21del rs1553408380
NM_001281492.1(MSH6):c.238-7502dup rs1060502875
NM_001281492.1(MSH6):c.2647_2649AAG[1] (p.Lys884del) rs267608073
NM_001281492.1(MSH6):c.2647_2651del (p.Lys883fs) rs587782712
NM_001281492.1(MSH6):c.2718_2719del (p.Phe907fs) rs1553414519
NM_001281492.1(MSH6):c.3092_3094CTG[1] (p.Ala1032del) rs63751427
NM_001281492.1(MSH6):c.3149_3152CAGA[1] (p.Asp1051fs) rs1553332297
NM_001281492.1(MSH6):c.3324_3325TA[1] (p.Ile1109fs) rs1064794384
NM_001281492.1(MSH6):c.3407_3408AT[1] (p.Met1137fs) rs267608114
NM_001281492.1(MSH6):c.3450_3456del (p.Glu1151fs) rs63751319
NM_001281492.1(MSH6):c.3488_3491dup (p.Pro1165fs) rs1553333500
NM_001281492.1(MSH6):c.3590_3593dup (p.Leu1200fs) rs1553333738
NM_001281492.1(MSH6):c.3606_3610dup (p.Arg1204fs) rs587779301
NM_001281492.1(MSH6):c.3609dup (p.Arg1204fs) rs863225418
NM_001281492.1(MSH6):c.740_744AGAGA[1] (p.Arg248_Arg249insTer) rs267608077
NM_001281492.1(MSH6):c.778_780delinsAA (p.Asp260fs) rs863225398
NM_001281492.1(MSH6):c.862_863TC[1] (p.Gln289fs) rs1553412696
NM_001281492.1(MSH6):c.962del (p.Phe321fs) rs869312769
NM_001281493.1(MSH6):c.-166dup rs267608041
NM_001281493.1(MSH6):c.-612_-605dup rs1553408245
NM_001281493.1(MSH6):c.-682del rs1553408127

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