ClinVar Miner

List of variants in gene MSH6 reported as pathogenic for Lynch syndrome

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 260
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HGVS dbSNP
MSH6, 1-BP DEL, 594T
MSH6, 1-BP DEL, LEU222TER
MSH6, 13-KB DEL
MSH6, TRP1024TER
NC_000002.12:g.(?_47790927)_(47791123_?)del
NC_000002.12:g.(?_47790927)_(47801155_?)del
NC_000002.12:g.(?_47803420)_(47805027_?)del
NM_000179.2 (MSH6):c.3984_3987dupGTCA (p.Leu1330Valfs) rs267608121
NM_000179.2(MSH6):c.(?_-1)_457+?del
NM_000179.2(MSH6):c.(?_-152)_457+?del
NM_000179.2(MSH6):c.-11863_457+1921del
NM_000179.2(MSH6):c.-3097_457+2010del
NM_000179.2(MSH6):c.1039_1040insC (p.Glu347fs) rs1553412441
NM_000179.2(MSH6):c.1100A>G (p.His367Arg) rs1553412495
NM_000179.2(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.2(MSH6):c.1193T>A (p.Val398Glu) rs587779208
NM_000179.2(MSH6):c.1295_1296insAA (p.Phe432fs) rs1060502946
NM_000179.2(MSH6):c.1299T>A (p.Tyr433Ter) rs267608055
NM_000179.2(MSH6):c.1299T>G (p.Tyr433Ter) rs267608055
NM_000179.2(MSH6):c.1333_1334del (p.Val444_Ser445insTer) rs1060502940
NM_000179.2(MSH6):c.1350_1351del (p.Phe451fs) rs878853702
NM_000179.2(MSH6):c.1367G>A (p.Trp456Ter) rs587780538
NM_000179.2(MSH6):c.1407T>A (p.Tyr469Ter) rs587781408
NM_000179.2(MSH6):c.1439T>A (p.Val480Glu) rs1244531716
NM_000179.2(MSH6):c.1444C>T (p.Arg482Ter) rs63750909
NM_000179.2(MSH6):c.1477G>T (p.Glu493Ter) rs267608046
NM_000179.2(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.2(MSH6):c.1519dup (p.Arg507fs) rs876658881
NM_000179.2(MSH6):c.1570_1571insC (p.Tyr524fs) rs878853709
NM_000179.2(MSH6):c.1571dup (p.Tyr524Ter) rs1553412966
NM_000179.2(MSH6):c.1572C>A (p.Tyr524Ter) rs587779215
NM_000179.2(MSH6):c.1572C>G (p.Tyr524Ter) rs587779215
NM_000179.2(MSH6):c.1573_3439-429dupinsTAT
NM_000179.2(MSH6):c.1602del (p.Tyr535fs) rs63751234
NM_000179.2(MSH6):c.1746dup (p.Arg583Ter) rs863224474
NM_000179.2(MSH6):c.1794dup (p.Gly599fs) rs587780670
NM_000179.2(MSH6):c.1805C>A (p.Ser602Ter) rs730881816
NM_000179.2(MSH6):c.1835C>A (p.Ser612Ter) rs63750564
NM_000179.2(MSH6):c.1842del (p.Cys615fs) rs730881825
NM_000179.2(MSH6):c.2048_2049CT[3] (p.Leu684_Gly685insTer) rs587779226
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.2105C>G (p.Ser702Ter) rs63751419
NM_000179.2(MSH6):c.2127T>A (p.Tyr709Ter) rs587779232
NM_000179.2(MSH6):c.2137del (p.Asp713fs) rs864622257
NM_000179.2(MSH6):c.2191C>T (p.Gln731Ter) rs63751442
NM_000179.2(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000179.2(MSH6):c.2294dup (p.Cys765fs) rs1553413673
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.2316_2317dup (p.Leu773fs) rs1553413693
NM_000179.2(MSH6):c.2330G>A (p.Trp777Ter) rs587779234
NM_000179.2(MSH6):c.2342C>T (p.Pro781Leu) rs1553413710
NM_000179.2(MSH6):c.2503C>T (p.Gln835Ter) rs63751321
NM_000179.2(MSH6):c.261-3237_3735del
NM_000179.2(MSH6):c.2680C>T (p.Gln894Ter) rs878853718
NM_000179.2(MSH6):c.2690dup (p.Asn897fs) rs1553414010
NM_000179.2(MSH6):c.2714T>A (p.Leu905Ter) rs587779245
NM_000179.2(MSH6):c.2731C>T (p.Arg911Ter) rs63751017
NM_000179.2(MSH6):c.2739_2740dup (p.Thr914fs) rs1553414092
NM_000179.2(MSH6):c.2764C>T (p.Arg922Ter) rs587779246
NM_000179.2(MSH6):c.2805dup (p.Asp936Ter) rs876659189
NM_000179.2(MSH6):c.2815C>T (p.Gln939Ter) rs63750140
NM_000179.2(MSH6):c.2832_2833del (p.Ile944fs) rs730881827
NM_000179.2(MSH6):c.2842G>T (p.Glu948Ter)
NM_000179.2(MSH6):c.2873_2874del (p.Gln958fs) rs1553414239
NM_000179.2(MSH6):c.2910G>A (p.Trp970Ter) rs765411990
NM_000179.2(MSH6):c.2931C>G (p.Tyr977Ter) rs63750111
NM_000179.2(MSH6):c.2983G>T (p.Glu995Ter) rs63750258
NM_000179.2(MSH6):c.3013C>T (p.Arg1005Ter) rs63750563
NM_000179.2(MSH6):c.3020G>A (p.Trp1007Ter) rs587779252
NM_000179.2(MSH6):c.3067G>T (p.Glu1023Ter) rs267608059
NM_000179.2(MSH6):c.3103C>T (p.Arg1035Ter) rs63749999
NM_000179.2(MSH6):c.3142C>T (p.Gln1048Ter) rs200492211
NM_000179.2(MSH6):c.3149del (p.Ala1050fs) rs1060502882
NM_000179.2(MSH6):c.3173-1_3173del rs587779256
NM_000179.2(MSH6):c.3173-433_3556+228del
NM_000179.2(MSH6):c.3188T>G (p.Leu1063Arg) rs1060502901
NM_000179.2(MSH6):c.3196_3197TA[3] (p.Ser1067fs) rs63749821
NM_000179.2(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843
NM_000179.2(MSH6):c.3220_3221del (p.Met1074fs) rs1553331290
NM_000179.2(MSH6):c.3238_3239del (p.Leu1080fs) rs863225406
NM_000179.2(MSH6):c.3259_3260insT (p.Pro1087fs) rs587779258
NM_000179.2(MSH6):c.3312dup (p.Gly1105fs) rs267608092
NM_000179.2(MSH6):c.3341_3342insC (p.Ile1115fs) rs587779260
NM_000179.2(MSH6):c.3355G>T (p.Glu1119Ter) rs267608084
NM_000179.2(MSH6):c.3367G>T (p.Glu1123Ter) rs267608086
NM_000179.2(MSH6):c.3379_3438+5del rs1553331676
NM_000179.2(MSH6):c.3435del (p.Arg1145fs) rs863224476
NM_000179.2(MSH6):c.3436C>T (p.Gln1146Ter) rs63750356
NM_000179.2(MSH6):c.3438+797_3438+798insTATins1839_3438+797
NM_000179.2(MSH6):c.3439-1G>T rs587779263
NM_000179.2(MSH6):c.3439-?_3556+?del
NM_000179.2(MSH6):c.3476dup (p.Tyr1159Ter) rs587782111
NM_000179.2(MSH6):c.3477C>G (p.Tyr1159Ter) rs398123231
NM_000179.2(MSH6):c.3487G>T (p.Glu1163Ter) rs587779267
NM_000179.2(MSH6):c.3519_3520insA (p.Phe1174fs) rs63750296
NM_000179.2(MSH6):c.3556+1G>T
NM_000179.2(MSH6):c.3605_3608TGCA[1] (p.His1203fs) rs587779274
NM_000179.2(MSH6):c.3632T>C (p.Leu1211Pro) rs864622041
NM_000179.2(MSH6):c.3647-1G>A rs587779279
NM_000179.2(MSH6):c.3647-2A>C rs267608111
NM_000179.2(MSH6):c.3690del (p.Val1231fs) rs730881829
NM_000179.2(MSH6):c.3717_3721dup (p.Cys1241Ter) rs878853736
NM_000179.2(MSH6):c.3743_3744insT (p.Tyr1249fs) rs786201084
NM_000179.2(MSH6):c.3757_3758insA (p.Val1253fs) rs587779289
NM_000179.2(MSH6):c.3768T>G (p.Tyr1256Ter) rs63751058
NM_000179.2(MSH6):c.3772C>T (p.Gln1258Ter) rs63750554
NM_000179.2(MSH6):c.3798_3801+26del rs587779291
NM_000179.2(MSH6):c.3817_3820AATG[3] (p.Cys1275Ter) rs63750262
NM_000179.2(MSH6):c.3838C>T (p.Gln1280Ter) rs63750139
NM_000179.2(MSH6):c.3850_3857dup (p.Tyr1287fs) rs1553333432
NM_000179.2(MSH6):c.3850dup (p.Thr1284fs) rs1553333421
NM_000179.2(MSH6):c.3864dup (p.Phe1289fs) rs878853739
NM_000179.2(MSH6):c.3917_3938dup (p.Gln1314_Lys1315insTer) rs1553333584
NM_000179.2(MSH6):c.3922_3940dup (p.Gln1314fs) rs1553333598
NM_000179.2(MSH6):c.3939_3940dup (p.Gln1314fs) rs730881830
NM_000179.2(MSH6):c.3940C>T (p.Gln1314Ter) rs1416452389
NM_000179.2(MSH6):c.3953_3954ins32 (p.?)
NM_000179.2(MSH6):c.3957dup (p.Ala1320fs) rs587779297
NM_000179.2(MSH6):c.3964G>T (p.Glu1322Ter) rs1553333707
NM_000179.2(MSH6):c.3973A>T (p.Lys1325Ter) rs1060502937
NM_000179.2(MSH6):c.3984_3985insATCA (p.Ser1329fs) rs267608124
NM_000179.2(MSH6):c.4001+2T>C rs267608131
NM_000179.2(MSH6):c.426G>A (p.Trp142Ter) rs63750342
NM_000179.2(MSH6):c.457+2T>A rs267608036
NM_000179.2(MSH6):c.458-?_3172+?del
NM_000179.2(MSH6):c.458-?_3556+?del
NM_000179.2(MSH6):c.458-?_4001+?del
NM_000179.2(MSH6):c.458-?_627+?del
NM_000179.2(MSH6):c.467C>G (p.Ser156Ter) rs63749873
NM_000179.2(MSH6):c.597del (p.Ser200fs)
NM_000179.2(MSH6):c.599C>A (p.Ser200Ter) rs63751077
NM_000179.2(MSH6):c.642C>A (p.Tyr214Ter) rs1800937
NM_000179.2(MSH6):c.642C>G (p.Tyr214Ter) rs1800937
NM_000179.2(MSH6):c.652A>T (p.Lys218Ter) rs587779315
NM_000179.2(MSH6):c.694C>T (p.Gln232Ter) rs587779318
NM_000179.2(MSH6):c.706C>T (p.Gln236Ter) rs63750996
NM_000179.2(MSH6):c.718C>T (p.Arg240Ter) rs63750019
NM_000179.2(MSH6):c.730C>T (p.Gln244Ter) rs267608066
NM_000179.2(MSH6):c.738_739insT (p.Lys247Ter) rs587779320
NM_000179.2(MSH6):c.741del (p.Lys247fs) rs267608041
NM_000179.2(MSH6):c.742C>T (p.Arg248Ter) rs63749980
NM_000179.2(MSH6):c.755C>G (p.Ser252Ter) rs267608048
NM_000179.2(MSH6):c.814G>T (p.Glu272Ter) rs63750552
NM_000179.2(MSH6):c.989C>A (p.Ser330Ter) rs786202848
NM_000179.2(MSH6):c.999del (p.Lys334fs) rs1060502932
NM_000179.2:c.1-?_260+?del
NM_000179.2:c.1-?_3646+?del
NM_000179.2:c.1-?_4083+?del
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.1805C>G (p.Ser602Ter) rs730881816
NM_000179.3(MSH6):c.1993G>T (p.Glu665Ter) rs1333555322
NM_000179.3(MSH6):c.2082C>A (p.Cys694Ter)
NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter) rs63751127
NM_000179.3(MSH6):c.2419G>T (p.Glu807Ter) rs587779923
NM_000179.3(MSH6):c.2846_2847AG[1] (p.Ser950fs) rs869312770
NM_000179.3(MSH6):c.2892T>A (p.Cys964Ter)
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3439-2A>G rs267608098
NM_000179.3(MSH6):c.3573dup (p.Val1192fs) rs1057517764
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.3(MSH6):c.3934_3937dup (p.Ile1313fs) rs760190301
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.4002-31_4002-8inv
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter) rs146816935
NM_001281492.1(MSH6):c.1031_1032dup (p.Gln345fs) rs63750854
NM_001281492.1(MSH6):c.1190del (p.Leu397fs) rs63751090
NM_001281492.1(MSH6):c.1200del (p.Ser402fs) rs587779216
NM_001281492.1(MSH6):c.1206dup (p.Glu403Ter) rs587779217
NM_001281492.1(MSH6):c.1224_1225delinsAG (p.Tyr408_Leu409delinsTer) rs267608049
NM_001281492.1(MSH6):c.1224_1225delinsG (p.Tyr408_Leu409delinsTer) rs587779218
NM_001281492.1(MSH6):c.1225_1227CTT[1] (p.Leu410del) rs1064793600
NM_001281492.1(MSH6):c.1238_1239del (p.Lys413fs) rs587779219
NM_001281492.1(MSH6):c.1242_1245del (p.Lys415fs) rs267608064
NM_001281492.1(MSH6):c.1244_1247del (p.Lys415fs) rs63749874
NM_001281492.1(MSH6):c.1245_1246AG[1] (p.Glu416fs) rs267608076
NM_001281492.1(MSH6):c.1315_1316del (p.Phe439fs) rs587783056
NM_001281492.1(MSH6):c.1394del (p.Leu465fs) rs267608050
NM_001281492.1(MSH6):c.1416_1419del (p.Glu474fs) rs63750735
NM_001281492.1(MSH6):c.1429dup (p.Thr477fs) rs587779221
NM_001281492.1(MSH6):c.1479del (p.Gly494fs) rs71539659
NM_001281492.1(MSH6):c.1481del (p.Gly494fs) rs777159874
NM_001281492.1(MSH6):c.1511_1512del (p.Thr503_Leu504insTer) rs267608082
NM_001281492.1(MSH6):c.1567_1570dup (p.Met524fs) rs63751167
NM_001281492.1(MSH6):c.1651_1652CT[2] (p.Ser552fs) rs267608057
NM_001281492.1(MSH6):c.1666_1670delinsCTTCTACCTCAAAAA (p.Gly556fs) rs878853711
NM_001281492.1(MSH6):c.1670_1671GT[1] (p.Val558fs) rs63750075
NM_001281492.1(MSH6):c.1689dup (p.Cys564fs) rs267608083
NM_001281492.1(MSH6):c.1755_1756CA[1] (p.Thr586fs) rs786204048
NM_001281492.1(MSH6):c.1760_1763del (p.Val587fs) rs267608058
NM_001281492.1(MSH6):c.1918_1922delinsT (p.Gly640fs) rs864622585
NM_001281492.1(MSH6):c.1958_1959del (p.Leu652_Cys653insTer) rs267608065
NM_001281492.1(MSH6):c.1989_1990del (p.Ala664fs) rs587779237
NM_001281492.1(MSH6):c.2145dup (p.Glu716Ter) rs587779241
NM_001281492.1(MSH6):c.2179_2182del (p.Asp727fs) rs587779243
NM_001281492.1(MSH6):c.2221_2224dup (p.Ile742fs) rs63750357
NM_001281492.1(MSH6):c.2282_2284delinsC (p.Ile761fs) rs587779244
NM_001281492.1(MSH6):c.2329_2330del (p.Val777fs) rs63750904
NM_001281492.1(MSH6):c.2375del (p.Arg792fs) rs587779247
NM_001281492.1(MSH6):c.2378dup (p.Thr794fs) rs267608063
NM_001281492.1(MSH6):c.238-2653_238-2652del rs267608037
NM_001281492.1(MSH6):c.2461_2468del (p.Leu821fs) rs63750940
NM_001281492.1(MSH6):c.2555del (p.Pro852fs) rs587779250
NM_001281492.1(MSH6):c.2586del (p.Glu863fs) rs587779251
NM_001281492.1(MSH6):c.2594del (p.Glu865fs) rs63749938
NM_001281492.1(MSH6):c.2647_2651del (p.Lys883fs) rs587782712
NM_001281492.1(MSH6):c.2661_2662TC[1] (p.Leu888fs) rs63751407
NM_001281492.1(MSH6):c.2729_2730del (p.Asn909_Phe910insTer) rs267608042
NM_001281492.1(MSH6):c.2763_2764AG[1] (p.Glu922fs) rs63750833
NM_001281492.1(MSH6):c.2792del (p.Leu931fs) rs63750196
NM_001281492.1(MSH6):c.2805_2808del (p.Asn935fs) rs267608085
NM_001281492.1(MSH6):c.2831del (p.Met944fs) rs267608090
NM_001281492.1(MSH6):c.2871del (p.Phe958fs) rs267608078
NM_001281492.1(MSH6):c.2873dup (p.Glu960fs) rs267608091
NM_001281492.1(MSH6):c.2878_2884del (p.Glu960fs) rs587779259
NM_001281492.1(MSH6):c.2883dup (p.Lys962Ter) rs267608095
NM_001281492.1(MSH6):c.2921_2922del (p.Phe974fs) rs267608092
NM_001281492.1(MSH6):c.2922del (p.Phe974fs) rs267608092
NM_001281492.1(MSH6):c.2930del (p.Asp977fs) rs63750377
NM_001281492.1(MSH6):c.2934dup (p.Ile979fs) rs267608088
NM_001281492.1(MSH6):c.2942_2945dup (p.Asp982delinsGluTer) rs587782562
NM_001281492.1(MSH6):c.3121_3122del (p.Ile1040_Asp1041insTer) rs63751410
NM_001281492.1(MSH6):c.3123_3124del (p.Asp1041fs) rs63750194
NM_001281492.1(MSH6):c.3124dup (p.Arg1042fs) rs63751327
NM_001281492.1(MSH6):c.3126_3129del (p.Arg1042fs) rs267608099
NM_001281492.1(MSH6):c.3129_3132dup (p.Thr1045fs) rs267608101
NM_001281492.1(MSH6):c.3245dup (p.Asp1083fs) rs63750731
NM_001281492.1(MSH6):c.3288_3316dup (p.Ala1106delinsGluTer) rs1553332996
NM_001281492.1(MSH6):c.3309_3312del (p.Lys1103fs) rs193922343
NM_001281492.1(MSH6):c.3335_3347del (p.Arg1112fs) rs587779287
NM_001281492.1(MSH6):c.3339_3342dup (p.Phe1115fs) rs587779288
NM_001281492.1(MSH6):c.3407_3408AT[1] (p.Met1137fs) rs267608114
NM_001281492.1(MSH6):c.3414dup (p.Cys1139fs) rs267608118
NM_001281492.1(MSH6):c.3450_3456del (p.Glu1151fs) rs63751319
NM_001281492.1(MSH6):c.3457_3460dup (p.Thr1154fs) rs267608128
NM_001281492.1(MSH6):c.3497_3503del (p.Lys1166fs) rs267608130
NM_001281492.1(MSH6):c.3528dup (p.Asn1177Ter) rs1553333594
NM_001281492.1(MSH6):c.3530_3537dup (p.Glu1180fs) rs587779295
NM_001281492.1(MSH6):c.3542_3545dup (p.Ile1183fs) rs267608127
NM_001281492.1(MSH6):c.3548_3551dup (p.Gln1184fs) rs267608126
NM_001281492.1(MSH6):c.3549_3567dup (p.Ala1190delinsSerLysGlyThrTer) rs63750767
NM_001281492.1(MSH6):c.3569_3572del (p.Ala1190fs) rs267608120
NM_001281492.1(MSH6):c.3579_3589del (p.Phe1193fs) rs587779299
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.695del (p.Pro232fs) rs267608056
NM_001281492.1(MSH6):c.711del (p.His237fs) rs587779203
NM_001281492.1(MSH6):c.740_744AGAGA[1] (p.Arg248_Arg249insTer) rs267608077
NM_001281492.1(MSH6):c.749_753del (p.Asp250fs) rs587779206
NM_001281492.1(MSH6):c.800_801del (p.Tyr267fs) rs63750439
NM_001281492.1(MSH6):c.886del (p.Cys296fs) rs587779209
NM_001281492.1(MSH6):c.962del (p.Phe321fs) rs869312769
NM_001281493.1(MSH6):c.-145_-144del rs267608072
NM_001281493.1(MSH6):c.-197del rs587779319
NM_001281493.1(MSH6):c.-256dup rs63750955
NM_001281493.1(MSH6):c.-62dup rs1553412283
NM_001281493.1(MSH6):c.-7dup rs863225421

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