ClinVar Miner

Variants in gene TSC2 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
2783 629 23 308 244 1 8 484

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign other
pathogenic 0 8 4 1 0 0
likely pathogenic 8 0 4 0 0 1
uncertain significance 4 4 8 208 114 0
likely benign 1 0 208 11 300 0
benign 0 0 114 300 4 0
other 0 1 0 0 0 0

All variants with conflicting interpretations #

Total variants: 484
Download table as spreadsheet
HGVS dbSNP
NM_000548.3(TSC2):c.1100G>A (p.Arg367Gln) rs1800725
NM_000548.3(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.3(TSC2):c.1661C>T (p.Ser554Leu) rs45471596
NM_000548.3(TSC2):c.1839+6G>A rs45517204
NM_000548.3(TSC2):c.1911C>T (p.Val637=) rs543584836
NM_000548.3(TSC2):c.2356C>T (p.Arg786Cys) rs767252128
NM_000548.3(TSC2):c.2410T>C (p.Cys804Arg) rs137853995
NM_000548.3(TSC2):c.255C>T (p.Val85=) rs45517098
NM_000548.3(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.3(TSC2):c.3599G>A (p.Arg1200Gln) rs397515225
NM_000548.3(TSC2):c.3797dupT (p.Pro1267Alafs) rs796053505
NM_000548.3(TSC2):c.3803G>A (p.Arg1268His) rs200577441
NM_000548.3(TSC2):c.3815-3C>T rs770054036
NM_000548.3(TSC2):c.3846_3855delCTGCCAAGGAinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000548.3(TSC2):c.3883+8C>G rs45517316
NM_000548.3(TSC2):c.3918C>T (p.Gly1306=) rs368712041
NM_000548.3(TSC2):c.4046C>T (p.Ala1349Val) rs201979616
NM_000548.3(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795
NM_000548.3(TSC2):c.4352G>A (p.Arg1451His) rs142848358
NM_000548.3(TSC2):c.4355C>T (p.Ser1452Leu) rs45517339
NM_000548.3(TSC2):c.4508A>C (p.Gln1503Pro) rs45516293
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.3(TSC2):c.4536C>T (p.Asp1512=) rs35986575
NM_000548.3(TSC2):c.4936G>A (p.Val1646Met) rs1064796970
NM_000548.3(TSC2):c.4952A>G (p.Asn1651Ser) rs45517382
NM_000548.3(TSC2):c.5068+9G>A rs45445593
NM_000548.3(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391
NM_000548.3(TSC2):c.5202T>C (p.Asp1734=) rs1748
NM_000548.3(TSC2):c.5260-1G>C rs1057518103
NM_000548.3(TSC2):c.5336A>G (p.Gln1779Arg) rs748947919
NM_000548.3(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.3(TSC2):c.538C>G (p.Leu180Val) rs45485591
NM_000548.3(TSC2):c.948G>A (p.Pro316=) rs45517141
NM_000548.4(TSC2):c.*26G>A rs13332015
NM_000548.4(TSC2):c.*5G>A rs201342697
NM_000548.4(TSC2):c.-29-10G>C rs28537973
NM_000548.4(TSC2):c.101A>C (p.Lys34Thr) rs777988634
NM_000548.4(TSC2):c.1066G>C (p.Val356Leu) rs587778728
NM_000548.4(TSC2):c.106A>G (p.Thr36Ala) rs757113497
NM_000548.4(TSC2):c.1070C>T (p.Ala357Val) rs150195368
NM_000548.4(TSC2):c.1110G>A (p.Gln370=) rs1800742
NM_000548.4(TSC2):c.1131C>T (p.Ser377=) rs201525586
NM_000548.4(TSC2):c.1133C>T (p.Pro378Leu) rs45517154
NM_000548.4(TSC2):c.1134G>A (p.Pro378=) rs754343186
NM_000548.4(TSC2):c.1143G>A (p.Arg381=) rs45517155
NM_000548.4(TSC2):c.1170G>A (p.Thr390=) rs376144933
NM_000548.4(TSC2):c.1203C>T (p.His401=) rs199665674
NM_000548.4(TSC2):c.1244C>T (p.Ala415Val) rs374936223
NM_000548.4(TSC2):c.1245G>A (p.Ala415=) rs757325185
NM_000548.4(TSC2):c.1257+8C>A rs767392684
NM_000548.4(TSC2):c.1258-10C>G rs794727093
NM_000548.4(TSC2):c.1258-5G>T rs925954967
NM_000548.4(TSC2):c.126G>A (p.Ala42=) rs886043548
NM_000548.4(TSC2):c.1276C>T (p.Leu426=) rs45478593
NM_000548.4(TSC2):c.1281C>A (p.Ile427=) rs45478892
NM_000548.4(TSC2):c.1292C>T (p.Ala431Val) rs202187148
NM_000548.4(TSC2):c.1293G>A (p.Ala431=) rs45517162
NM_000548.4(TSC2):c.1303C>T (p.His435Tyr) rs760896048
NM_000548.4(TSC2):c.1308G>A (p.Pro436=) rs753764275
NM_000548.4(TSC2):c.1332C>T (p.Asn444=) rs535984356
NM_000548.4(TSC2):c.1340C>T (p.Ala447Val) rs45486591
NM_000548.4(TSC2):c.1342C>G (p.Leu448Val) rs1413875392
NM_000548.4(TSC2):c.1362-10C>T rs45446697
NM_000548.4(TSC2):c.1362-5C>T rs372424945
NM_000548.4(TSC2):c.1362-9G>A rs763842281
NM_000548.4(TSC2):c.1365C>T (p.Ser455=) rs34567401
NM_000548.4(TSC2):c.1366G>A (p.Glu456Lys) rs397515142
NM_000548.4(TSC2):c.1377C>T (p.Gly459=) rs45517170
NM_000548.4(TSC2):c.1378G>A (p.Ala460Thr) rs137854154
NM_000548.4(TSC2):c.1387A>G (p.Ile463Val) rs45517171
NM_000548.4(TSC2):c.1443+4C>T rs45517172
NM_000548.4(TSC2):c.1458C>G (p.Asn486Lys) rs200532154
NM_000548.4(TSC2):c.148A>G (p.Met50Val) rs140618379
NM_000548.4(TSC2):c.1494G>A (p.Glu498=) rs780112077
NM_000548.4(TSC2):c.1512C>G (p.Val504=) rs146359990
NM_000548.4(TSC2):c.152A>C (p.Glu51Ala) rs772617064
NM_000548.4(TSC2):c.1543C>T (p.Leu515=) rs35896166
NM_000548.4(TSC2):c.1574A>G (p.Asn525Ser) rs45457694
NM_000548.4(TSC2):c.1577G>C (p.Ser526Thr) rs376573446
NM_000548.4(TSC2):c.1578C>T (p.Ser526=) rs34012042
NM_000548.4(TSC2):c.1593C>T (p.Ile531=) rs45517180
NM_000548.4(TSC2):c.1599+10G>A rs376692777
NM_000548.4(TSC2):c.1600-10C>T rs768188836
NM_000548.4(TSC2):c.1600-14C>T rs45517185
NM_000548.4(TSC2):c.1600-9T>C rs886043268
NM_000548.4(TSC2):c.1609C>T (p.Arg537Cys) rs142257684
NM_000548.4(TSC2):c.1626C>A (p.Pro542=) rs376234285
NM_000548.4(TSC2):c.1628C>T (p.Pro543Leu) rs45517188
NM_000548.4(TSC2):c.1642A>C (p.Arg548=) rs565375272
NM_000548.4(TSC2):c.1662G>A (p.Ser554=) rs775617895
NM_000548.4(TSC2):c.167A>G (p.Asn56Ser) rs144165984
NM_000548.4(TSC2):c.1735C>G (p.Pro579Ala) rs45517196
NM_000548.4(TSC2):c.1747G>A (p.Ala583Thr) rs1800729
NM_000548.4(TSC2):c.1751C>T (p.Thr584Met) rs751147419
NM_000548.4(TSC2):c.1752G>A (p.Thr584=) rs141285742
NM_000548.4(TSC2):c.1775G>A (p.Ser592Asn) rs374371998
NM_000548.4(TSC2):c.17G>A (p.Ser6Asn) rs758239066
NM_000548.4(TSC2):c.1816A>G (p.Ile606Val) rs371074761
NM_000548.4(TSC2):c.1818C>T (p.Ile606=) rs547389841
NM_000548.4(TSC2):c.1819G>A (p.Ala607Thr) rs45517203
NM_000548.4(TSC2):c.1820C>T (p.Ala607Val) rs397515296
NM_000548.4(TSC2):c.1821G>A (p.Ala607=) rs149543046
NM_000548.4(TSC2):c.1836G>A (p.Leu612=) rs758839898
NM_000548.4(TSC2):c.1860G>A (p.Leu620=) rs45492397
NM_000548.4(TSC2):c.1864C>T (p.Arg622Trp) rs397514914
NM_000548.4(TSC2):c.1865G>A (p.Arg622Gln) rs45517206
NM_000548.4(TSC2):c.1869C>T (p.Ala623=) rs111244727
NM_000548.4(TSC2):c.1885C>T (p.Leu629=) rs570409651
NM_000548.4(TSC2):c.1915C>T (p.Arg639Trp) rs766451267
NM_000548.4(TSC2):c.1916G>A (p.Arg639Gln) rs753932484
NM_000548.4(TSC2):c.1932C>T (p.Cys644=) rs777665839
NM_000548.4(TSC2):c.1933G>A (p.Val645Ile) rs746677177
NM_000548.4(TSC2):c.1939G>A (p.Asp647Asn) rs45509392
NM_000548.4(TSC2):c.1946T>C (p.Met649Thr) rs45490792
NM_000548.4(TSC2):c.1947-3C>T rs201106259
NM_000548.4(TSC2):c.1947-9C>T rs747475590
NM_000548.4(TSC2):c.1973A>C (p.Lys658Thr) rs397515223
NM_000548.4(TSC2):c.1981G>A (p.Gly661Ser) rs137854168
NM_000548.4(TSC2):c.2009C>T (p.Pro670Leu) rs397515288
NM_000548.4(TSC2):c.2015C>T (p.Pro672Leu) rs768864353
NM_000548.4(TSC2):c.2018C>T (p.Ala673Val) rs745897413
NM_000548.4(TSC2):c.2030C>T (p.Pro677Leu) rs376974525
NM_000548.4(TSC2):c.2031C>T (p.Pro677=) rs45517208
NM_000548.4(TSC2):c.2032G>A (p.Ala678Thr) rs200494044
NM_000548.4(TSC2):c.2034C>T (p.Ala678=) rs781740263
NM_000548.4(TSC2):c.2035G>A (p.Val679Met) rs746315218
NM_000548.4(TSC2):c.2046G>A (p.Gly682=) rs749536123
NM_000548.4(TSC2):c.2049C>T (p.Ser683=) rs569518378
NM_000548.4(TSC2):c.2049_2050delCGinsTC (p.Val684Leu) rs1555506150
NM_000548.4(TSC2):c.2071C>T (p.Arg691Cys) rs760489473
NM_000548.4(TSC2):c.2073C>T (p.Arg691=) rs45512398
NM_000548.4(TSC2):c.2097+13G>A rs367915255
NM_000548.4(TSC2):c.2098-5C>G rs369072310
NM_000548.4(TSC2):c.2098-5C>T rs369072310
NM_000548.4(TSC2):c.20A>G (p.Lys7Arg) rs137854215
NM_000548.4(TSC2):c.2153G>C (p.Arg718Pro) rs45517215
NM_000548.4(TSC2):c.2220+11C>T rs372555496
NM_000548.4(TSC2):c.2220+4C>G rs781186613
NM_000548.4(TSC2):c.2239C>T (p.Leu747=) rs45517221
NM_000548.4(TSC2):c.223G>A (p.Glu75Lys) rs145470784
NM_000548.4(TSC2):c.2257G>A (p.Ala753Thr) rs574205203
NM_000548.4(TSC2):c.226C>T (p.His76Tyr) rs574779350
NM_000548.4(TSC2):c.2273C>G (p.Ser758Cys) rs45517223
NM_000548.4(TSC2):c.228C>T (p.His76=) rs45517097
NM_000548.4(TSC2):c.2295C>T (p.Ala765=) rs45509500
NM_000548.4(TSC2):c.2296G>A (p.Val766Met) rs150672640
NM_000548.4(TSC2):c.2331T>C (p.His777=) rs139963953
NM_000548.4(TSC2):c.2348C>G (p.Thr783Ser) rs562945619
NM_000548.4(TSC2):c.2348C>T (p.Thr783Ile) rs562945619
NM_000548.4(TSC2):c.2355+5G>A rs756995937
NM_000548.4(TSC2):c.2355+6A>T rs904030973
NM_000548.4(TSC2):c.2355+8G>A rs199558375
NM_000548.4(TSC2):c.2356-4G>A rs201156748
NM_000548.4(TSC2):c.2392C>T (p.His798Tyr) rs375809212
NM_000548.4(TSC2):c.2416G>A (p.Val806Met) rs796053473
NM_000548.4(TSC2):c.2427C>T (p.Ser809=) rs182849638
NM_000548.4(TSC2):c.2451C>T (p.Asp817=) rs201442542
NM_000548.4(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.4(TSC2):c.251C>T (p.Ala84Val) rs35660529
NM_000548.4(TSC2):c.2521G>A (p.Val841Ile) rs549612492
NM_000548.4(TSC2):c.2539C>T (p.Leu847=) rs377300009
NM_000548.4(TSC2):c.2545+26G>A rs45517242
NM_000548.4(TSC2):c.2546-4G>A rs746958032
NM_000548.4(TSC2):c.2546-5C>T rs45517247
NM_000548.4(TSC2):c.2565C>T (p.His855=) rs143537386
NM_000548.4(TSC2):c.2580T>C (p.Phe860=) rs13337626
NM_000548.4(TSC2):c.2583C>T (p.Ala861=) rs144924053
NM_000548.4(TSC2):c.2584G>A (p.Ala862Thr) rs759837836
NM_000548.4(TSC2):c.2586G>A (p.Ala862=) rs752865665
NM_000548.4(TSC2):c.2622G>A (p.Pro874=) rs141486629
NM_000548.4(TSC2):c.262C>T (p.Leu88=) rs45485999
NM_000548.4(TSC2):c.2632C>T (p.Pro878Ser) rs397515077
NM_000548.4(TSC2):c.2639+10C>T rs137854378
NM_000548.4(TSC2):c.2640-13C>T rs201184637
NM_000548.4(TSC2):c.2640-5C>T rs753781434
NM_000548.4(TSC2):c.2666C>T (p.Ala889Val) rs137854155
NM_000548.4(TSC2):c.2712C>G (p.Phe904Leu) rs137920189
NM_000548.4(TSC2):c.272C>T (p.Pro91Leu) rs45482691
NM_000548.4(TSC2):c.2742+4G>A rs587781683
NM_000548.4(TSC2):c.2743-3C>A rs45517264
NM_000548.4(TSC2):c.2743-7C>G rs566118686
NM_000548.4(TSC2):c.2743-9C>T rs397515319
NM_000548.4(TSC2):c.2750G>A (p.Arg917Gln) rs397515046
NM_000548.4(TSC2):c.275A>T (p.Glu92Val) rs137853994
NM_000548.4(TSC2):c.2760C>T (p.Val920=) rs149490538
NM_000548.4(TSC2):c.2761C>G (p.Leu921Val) rs201835391
NM_000548.4(TSC2):c.2764_2765delTT (p.Leu922Valfs) rs1555508929
NM_000548.4(TSC2):c.2784C>T (p.Pro928=) rs45517267
NM_000548.4(TSC2):c.2823C>T (p.Asn941=) rs750806272
NM_000548.4(TSC2):c.2837+5G>A rs786203791
NM_000548.4(TSC2):c.2838-4A>G rs45517272
NM_000548.4(TSC2):c.2838-6C>T rs528706539
NM_000548.4(TSC2):c.2873A>G (p.Asn958Ser) rs397515104
NM_000548.4(TSC2):c.291C>G (p.Ala97=) rs137933794
NM_000548.4(TSC2):c.2926C>T (p.Arg976Trp) rs769527912
NM_000548.4(TSC2):c.292C>T (p.Arg98Trp) rs372321790
NM_000548.4(TSC2):c.2961C>G (p.Val987=) rs775637322
NM_000548.4(TSC2):c.2963G>C (p.Arg988Pro) rs397515306
NM_000548.4(TSC2):c.2978C>T (p.Thr993Met) rs137854410
NM_000548.4(TSC2):c.2979G>A (p.Thr993=) rs45517277
NM_000548.4(TSC2):c.2986A>G (p.Thr996Ala) rs139753238
NM_000548.4(TSC2):c.299C>T (p.Ala100Val) rs375824753
NM_000548.4(TSC2):c.3002G>A (p.Gly1001Glu) rs368878445
NM_000548.4(TSC2):c.300G>A (p.Ala100=) rs45517100
NM_000548.4(TSC2):c.3036C>T (p.Asp1012=) rs144997264
NM_000548.4(TSC2):c.3088A>G (p.Met1030Val) rs754276150
NM_000548.4(TSC2):c.3095G>C (p.Arg1032Pro) rs45491698
NM_000548.4(TSC2):c.3100G>A (p.Val1034Ile) rs146745242
NM_000548.4(TSC2):c.3102C>G (p.Val1034=) rs562998574
NM_000548.4(TSC2):c.3106T>C (p.Ser1036Pro) rs45517281
NM_000548.4(TSC2):c.3117G>A (p.Thr1039=) rs747104674
NM_000548.4(TSC2):c.3126G>A (p.Pro1042=) rs36078782
NM_000548.4(TSC2):c.3126G>T (p.Pro1042=) rs36078782
NM_000548.4(TSC2):c.3131+8C>T rs763702215
NM_000548.4(TSC2):c.3140T>C (p.Val1047Ala) rs45517284
NM_000548.4(TSC2):c.3209C>T (p.Thr1070Met) rs147989574
NM_000548.4(TSC2):c.3210G>A (p.Thr1070=) rs539927192
NM_000548.4(TSC2):c.3225C>T (p.Thr1075=) rs374145104
NM_000548.4(TSC2):c.325G>A (p.Val109Met) rs369932305
NM_000548.4(TSC2):c.3270C>T (p.Ser1090=) rs754951889
NM_000548.4(TSC2):c.3275C>T (p.Pro1092Leu) rs587781774
NM_000548.4(TSC2):c.3276G>A (p.Pro1092=) rs368923127
NM_000548.4(TSC2):c.3284+1G>A rs45517289
NM_000548.4(TSC2):c.3287C>T (p.Ser1096Phe) rs140772300
NM_000548.4(TSC2):c.3293C>T (p.Pro1098Leu) rs773545852
NM_000548.4(TSC2):c.3326C>T (p.Pro1109Leu) rs796053474
NM_000548.4(TSC2):c.3333G>A (p.Lys1111=) rs557648435
NM_000548.4(TSC2):c.3364C>T (p.Arg1122Cys) rs397514938
NM_000548.4(TSC2):c.3366T>C (p.Arg1122=) rs778352969
NM_000548.4(TSC2):c.3374G>A (p.Arg1125Gln) rs796053475
NM_000548.4(TSC2):c.3377A>T (p.Asp1126Val) rs397514945
NM_000548.4(TSC2):c.3396G>A (p.Ser1132=) rs373004429
NM_000548.4(TSC2):c.3396G>T (p.Ser1132=) rs373004429
NM_000548.4(TSC2):c.3397+15C>T rs202246408
NM_000548.4(TSC2):c.339C>T (p.Gly113=) rs368451664
NM_000548.4(TSC2):c.3413G>A (p.Arg1138Gln) rs143168379
NM_000548.4(TSC2):c.3420C>T (p.Gly1140=) rs373968155
NM_000548.4(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895
NM_000548.4(TSC2):c.3425T>C (p.Leu1142Pro) rs796053513
NM_000548.4(TSC2):c.3429C>T (p.Asp1143=) rs45487691
NM_000548.4(TSC2):c.3430G>A (p.Val1144Met) rs45517294
NM_000548.4(TSC2):c.3434C>T (p.Pro1145Leu) rs397515162
NM_000548.4(TSC2):c.3468A>G (p.Pro1156=) rs147242130
NM_000548.4(TSC2):c.3475C>T (p.Arg1159Trp) rs45517295
NM_000548.4(TSC2):c.3476G>A (p.Arg1159Gln) rs45473098
NM_000548.4(TSC2):c.3476G>T (p.Arg1159Leu) rs45473098
NM_000548.4(TSC2):c.3489C>T (p.Ala1163=) rs200346578
NM_000548.4(TSC2):c.3491C>T (p.Ala1164Val) rs45448801
NM_000548.4(TSC2):c.3492G>A (p.Ala1164=) rs769562717
NM_000548.4(TSC2):c.3521G>A (p.Arg1174Gln) rs368666554
NM_000548.4(TSC2):c.3552G>A (p.Ala1184=) rs549427685
NM_000548.4(TSC2):c.3557A>G (p.Tyr1186Cys) rs137854421
NM_000548.4(TSC2):c.3565C>G (p.Leu1189Val) rs796053476
NM_000548.4(TSC2):c.3567G>A (p.Leu1189=) rs146734084
NM_000548.4(TSC2):c.3610+6G>A rs45517301
NM_000548.4(TSC2):c.3610+9C>T rs45467194
NM_000548.4(TSC2):c.3611-10G>A rs372045362
NM_000548.4(TSC2):c.3611-4G>A rs368926908
NM_000548.4(TSC2):c.3611-5C>T rs200194551
NM_000548.4(TSC2):c.362C>G (p.Ala121Gly) rs767755750
NM_000548.4(TSC2):c.363C>T (p.Ala121=) rs45517106
NM_000548.4(TSC2):c.3681C>A (p.Pro1227=) rs181279399
NM_000548.4(TSC2):c.3711G>A (p.Ala1237=) rs754945653
NM_000548.4(TSC2):c.3723C>T (p.Phe1241=) rs45486193
NM_000548.4(TSC2):c.3744C>T (p.Ala1248=) rs45517307
NM_000548.4(TSC2):c.3762G>A (p.Ser1254=) rs144891432
NM_000548.4(TSC2):c.3768G>A (p.Pro1256=) rs201599540
NM_000548.4(TSC2):c.3770C>T (p.Ala1257Val) rs45466493
NM_000548.4(TSC2):c.3777C>T (p.Ser1259=) rs786202178
NM_000548.4(TSC2):c.3793C>T (p.Pro1265Ser) rs45517311
NM_000548.4(TSC2):c.3815-15G>A rs45480591
NM_000548.4(TSC2):c.3815-20C>T rs201878712
NM_000548.4(TSC2):c.3818C>T (p.Ala1273Val) rs749367382
NM_000548.4(TSC2):c.3827C>T (p.Ser1276Phe) rs45478595
NM_000548.4(TSC2):c.3871G>A (p.Val1291Ile) rs201135184
NM_000548.4(TSC2):c.3884-17C>G rs45517317
NM_000548.4(TSC2):c.3888C>T (p.Ser1296=) rs141252704
NM_000548.4(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.4(TSC2):c.3892G>A (p.Val1298Met) rs147284943
NM_000548.4(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_000548.4(TSC2):c.3915G>A (p.Pro1305=) rs11551373
NM_000548.4(TSC2):c.3919G>A (p.Glu1307Lys) rs62642481
NM_000548.4(TSC2):c.3957C>T (p.Asp1319=) rs757244510
NM_000548.4(TSC2):c.3958G>A (p.Val1320Ile) rs767495365
NM_000548.4(TSC2):c.3968C>T (p.Ala1323Val) rs397515062
NM_000548.4(TSC2):c.3969G>A (p.Ala1323=) rs749057825
NM_000548.4(TSC2):c.3981C>G (p.Asp1327Glu) rs876659087
NM_000548.4(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.4(TSC2):c.3989C>T (p.Thr1330Met) rs397515209
NM_000548.4(TSC2):c.3990G>A (p.Thr1330=) rs369943684
NM_000548.4(TSC2):c.3993T>A (p.Asp1331Glu) rs776049462
NM_000548.4(TSC2):c.4006-8C>T rs45517325
NM_000548.4(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903
NM_000548.4(TSC2):c.4023C>A (p.Ser1341Arg) rs45462593
NM_000548.4(TSC2):c.4030_4032delGAG (p.Glu1344del) rs878854100
NM_000548.4(TSC2):c.4038G>A (p.Ser1346=) rs756763596
NM_000548.4(TSC2):c.4044C>T (p.His1348=) rs137854084
NM_000548.4(TSC2):c.4045G>A (p.Ala1349Thr) rs146239734
NM_000548.4(TSC2):c.4047G>A (p.Ala1349=) rs45468491
NM_000548.4(TSC2):c.4067G>A (p.Gly1356Asp) rs747104864
NM_000548.4(TSC2):c.4077C>T (p.Ile1359=) rs150999168
NM_000548.4(TSC2):c.4086C>T (p.Val1362=) rs763847509
NM_000548.4(TSC2):c.4087G>A (p.Val1363Ile) rs751203255
NM_000548.4(TSC2):c.4094C>T (p.Ser1365Leu) rs377123510
NM_000548.4(TSC2):c.4095G>A (p.Ser1365=) rs139630605
NM_000548.4(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328
NM_000548.4(TSC2):c.4106G>A (p.Arg1369Gln) rs587778738
NM_000548.4(TSC2):c.4107G>C (p.Arg1369=) rs201688447
NM_000548.4(TSC2):c.411C>T (p.His137=) rs776129896
NM_000548.4(TSC2):c.4136C>T (p.Ser1379Leu) rs137854065
NM_000548.4(TSC2):c.418C>T (p.Leu140=) rs1555497657
NM_000548.4(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399
NM_000548.4(TSC2):c.4215C>T (p.Ala1405=) rs45517331
NM_000548.4(TSC2):c.4216G>A (p.Asp1406Asn) rs147719291
NM_000548.4(TSC2):c.4216G>T (p.Asp1406Tyr) rs147719291
NM_000548.4(TSC2):c.4218C>T (p.Asp1406=) rs886051794
NM_000548.4(TSC2):c.4219G>A (p.Val1407Met) rs45517332
NM_000548.4(TSC2):c.4223G>T (p.Gly1408Val) rs202068995
NM_000548.4(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333
NM_000548.4(TSC2):c.4269G>A (p.Leu1423=) rs45438898
NM_000548.4(TSC2):c.4272C>T (p.Asp1424=) rs371541319
NM_000548.4(TSC2):c.4286C>T (p.Ala1429Val) rs757579310
NM_000548.4(TSC2):c.4293G>A (p.Ser1431=) rs45487992
NM_000548.4(TSC2):c.4298C>T (p.Ser1433Leu) rs45517335
NM_000548.4(TSC2):c.429C>G (p.Phe143Leu) rs137854406
NM_000548.4(TSC2):c.4302C>T (p.Gly1434=) rs137854000
NM_000548.4(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923
NM_000548.4(TSC2):c.431A>G (p.Lys144Arg) rs769286175
NM_000548.4(TSC2):c.433G>A (p.Ala145Thr) rs774892845
NM_000548.4(TSC2):c.4356G>A (p.Ser1452=) rs779122170
NM_000548.4(TSC2):c.4397C>T (p.Ser1466Leu) rs45517341
NM_000548.4(TSC2):c.4398G>A (p.Ser1466=) rs376086638
NM_000548.4(TSC2):c.4410C>T (p.Arg1470=) rs539032553
NM_000548.4(TSC2):c.4414G>A (p.Gly1472Ser) rs558737770
NM_000548.4(TSC2):c.4426G>A (p.Glu1476Lys) rs376946970
NM_000548.4(TSC2):c.4458C>T (p.Ala1486=) rs761248238
NM_000548.4(TSC2):c.4469A>G (p.Glu1490Gly) rs759882146
NM_000548.4(TSC2):c.4493+17C>T rs45517345
NM_000548.4(TSC2):c.4493+7C>A rs199943270
NM_000548.4(TSC2):c.4510C>T (p.Leu1504Phe) rs747613240
NM_000548.4(TSC2):c.4527C>G (p.Phe1509Leu) rs775919951
NM_000548.4(TSC2):c.4533C>T (p.Gly1511=) rs201126835
NM_000548.4(TSC2):c.4558C>T (p.Leu1520=) rs374687688
NM_000548.4(TSC2):c.4565A>G (p.Asn1522Ser) rs144062721
NM_000548.4(TSC2):c.4569+12C>T rs45517350
NM_000548.4(TSC2):c.4579T>C (p.Phe1527Leu) rs45514391
NM_000548.4(TSC2):c.4590G>A (p.Ser1530=) rs377377367
NM_000548.4(TSC2):c.4602C>T (p.Leu1534=) rs368534883
NM_000548.4(TSC2):c.4612C>T (p.Pro1538Ser) rs1060500930
NM_000548.4(TSC2):c.4638C>T (p.Ala1546=) rs45517354
NM_000548.4(TSC2):c.4639G>A (p.Val1547Ile) rs745895675
NM_000548.4(TSC2):c.465C>T (p.Tyr155=) rs45444196
NM_000548.4(TSC2):c.4663-16_4663-15delTC rs796053477
NM_000548.4(TSC2):c.4671C>T (p.Ser1557=) rs151140709
NM_000548.4(TSC2):c.4677C>T (p.Leu1559=) rs45517361
NM_000548.4(TSC2):c.4680C>T (p.Ala1560=) rs139507276
NM_000548.4(TSC2):c.4683C>T (p.Ile1561=) rs145033857
NM_000548.4(TSC2):c.4716G>C (p.Thr1572=) rs369346726
NM_000548.4(TSC2):c.4746C>T (p.Ile1582=) rs751305758
NM_000548.4(TSC2):c.4747G>A (p.Glu1583Lys) rs886039446
NM_000548.4(TSC2):c.4767G>A (p.Pro1589=) rs769246304
NM_000548.4(TSC2):c.4795G>A (p.Val1599Met) rs772687631
NM_000548.4(TSC2):c.4809C>T (p.Asp1603=) rs147578602
NM_000548.4(TSC2):c.481+8C>T rs758228838
NM_000548.4(TSC2):c.482-3C>T rs1800720
NM_000548.4(TSC2):c.4849+13G>A rs780953278
NM_000548.4(TSC2):c.4849+4C>T rs370426490
NM_000548.4(TSC2):c.4851C>T (p.Ala1617=) rs556045045
NM_000548.4(TSC2):c.4852G>A (p.Val1618Ile) rs377129517
NM_000548.4(TSC2):c.4863C>T (p.Ile1621=) rs142085017
NM_000548.4(TSC2):c.4869C>T (p.Thr1623=) rs150239180
NM_000548.4(TSC2):c.4887C>T (p.Asp1629=) rs137854152
NM_000548.4(TSC2):c.4901G>A (p.Arg1634His) rs201694466
NM_000548.4(TSC2):c.4905C>T (p.Cys1635=) rs397514999
NM_000548.4(TSC2):c.4906G>A (p.Asp1636Asn) rs45482398
NM_000548.4(TSC2):c.4908C>T (p.Asp1636=) rs115200071
NM_000548.4(TSC2):c.4911G>A (p.Lys1637=) rs35282988
NM_000548.4(TSC2):c.4929C>T (p.Asn1643=) rs45517381
NM_000548.4(TSC2):c.4930G>A (p.Asp1644Asn) rs137853999
NM_000548.4(TSC2):c.493C>T (p.Leu165=) rs758521946
NM_000548.4(TSC2):c.4959C>T (p.Ser1653=) rs45517384
NM_000548.4(TSC2):c.4968C>T (p.Asp1656=) rs182327684
NM_000548.4(TSC2):c.4983C>T (p.Thr1661=) rs35534817
NM_000548.4(TSC2):c.4990-3C>T rs777928103
NM_000548.4(TSC2):c.4990-5G>T rs753000765
NM_000548.4(TSC2):c.4990-7C>T rs45457095
NM_000548.4(TSC2):c.5001C>T (p.Asn1667=) rs551938797
NM_000548.4(TSC2):c.5016C>T (p.Ile1672=) rs370770569
NM_000548.4(TSC2):c.5017G>A (p.Val1673Ile) rs45490993
NM_000548.4(TSC2):c.5017G>C (p.Val1673Leu) rs45490993
NM_000548.4(TSC2):c.5025G>A (p.Pro1675=) rs35118875
NM_000548.4(TSC2):c.5028G>A (p.Leu1676=) rs45475501
NM_000548.4(TSC2):c.5034C>T (p.Tyr1678=) rs45467993
NM_000548.4(TSC2):c.5035G>A (p.Glu1679Lys) rs370404391
NM_000548.4(TSC2):c.5068+27_5068+60del34 rs137854209
NM_000548.4(TSC2):c.5068+8C>T rs747827911
NM_000548.4(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_000548.4(TSC2):c.5095G>A (p.Val1699Met) rs370864445
NM_000548.4(TSC2):c.5097G>C (p.Val1699=) rs397515314
NM_000548.4(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000548.4(TSC2):c.5106C>T (p.Ile1702=) rs45483700
NM_000548.4(TSC2):c.5117G>A (p.Arg1706His) rs45517392
NM_000548.4(TSC2):c.5120A>G (p.Asn1707Ser) rs772439098
NM_000548.4(TSC2):c.5130C>T (p.Phe1710=) rs760978505
NM_000548.4(TSC2):c.5131G>A (p.Val1711Met) rs139779505
NM_000548.4(TSC2):c.5142G>A (p.Gln1714=) rs147147042
NM_000548.4(TSC2):c.5161-10A>C rs1800718
NM_000548.4(TSC2):c.5161-4C>G rs45517406
NM_000548.4(TSC2):c.5161-8G>A rs374674097
NM_000548.4(TSC2):c.5161-9C>T rs45515893
NM_000548.4(TSC2):c.5185C>T (p.Arg1729Cys) rs45517409
NM_000548.4(TSC2):c.5186G>A (p.Arg1729His) rs760395277
NM_000548.4(TSC2):c.5199C>T (p.Thr1733=) rs778378296
NM_000548.4(TSC2):c.5203A>G (p.Ile1735Val) rs781407050
NM_000548.4(TSC2):c.5209C>T (p.Pro1737Ser) rs780112037
NM_000548.4(TSC2):c.5233C>T (p.Arg1745Cys) rs760413281
NM_000548.4(TSC2):c.5244G>A (p.Lys1748=) rs150038278
NM_000548.4(TSC2):c.5259+1del rs137854317
NM_000548.4(TSC2):c.5260-12C>T rs769264472
NM_000548.4(TSC2):c.5260-15C>T rs45517416
NM_000548.4(TSC2):c.5262C>G (p.Ile1754Met) rs397515318
NM_000548.4(TSC2):c.5265C>T (p.Cys1755=) rs141449031
NM_000548.4(TSC2):c.5266G>A (p.Glu1756Lys) rs375075952
NM_000548.4(TSC2):c.5275G>A (p.Ala1759Thr) rs758450326
NM_000548.4(TSC2):c.5289C>T (p.Pro1763=) rs144965811
NM_000548.4(TSC2):c.5292C>T (p.Ser1764=) rs769507440
NM_000548.4(TSC2):c.5301G>C (p.Leu1767=) rs886051798
NM_000548.4(TSC2):c.5308C>T (p.Pro1770Ser) rs761181064
NM_000548.4(TSC2):c.5311C>G (p.Pro1771Ala) rs777006583
NM_000548.4(TSC2):c.5312C>T (p.Pro1771Leu) rs137854214
NM_000548.4(TSC2):c.5313G>A (p.Pro1771=) rs765607686
NM_000548.4(TSC2):c.5319T>C (p.His1773=) rs536518032
NM_000548.4(TSC2):c.5321G>C (p.Ser1774Thr) rs9209
NM_000548.4(TSC2):c.5334A>G (p.Ala1778=) rs371580877
NM_000548.4(TSC2):c.5338A>C (p.Thr1780Pro) rs989487316
NM_000548.4(TSC2):c.5339C>T (p.Thr1780Ile) rs778395191
NM_000548.4(TSC2):c.5346C>T (p.Ala1782=) rs557200243
NM_000548.4(TSC2):c.5357C>G (p.Pro1786Arg) rs770117004
NM_000548.4(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419
NM_000548.4(TSC2):c.5368G>A (p.Val1790Met) rs200140994
NM_000548.4(TSC2):c.5378G>A (p.Arg1793Gln) rs45506695
NM_000548.4(TSC2):c.5384G>A (p.Arg1795His) rs137854288
NM_000548.4(TSC2):c.5389A>C (p.Ile1797Leu) rs796053479
NM_000548.4(TSC2):c.5397G>A (p.Ser1799=) rs1051771
NM_000548.4(TSC2):c.5397G>C (p.Ser1799=) rs1051771
NM_000548.4(TSC2):c.5418T>G (p.Phe1806Leu) rs200004126
NM_000548.4(TSC2):c.552C>T (p.Val184=) rs199991910
NM_000548.4(TSC2):c.576C>T (p.Asp192=) rs761704292
NM_000548.4(TSC2):c.577G>A (p.Glu193Lys) rs45517112
NM_000548.4(TSC2):c.583A>G (p.Ile195Val) rs148325559
NM_000548.4(TSC2):c.599+3A>G rs397514899
NM_000548.4(TSC2):c.619G>A (p.Val207Ile) rs139929314
NM_000548.4(TSC2):c.628G>A (p.Ala210Thr) rs147196739
NM_000548.4(TSC2):c.629C>T (p.Ala210Val) rs764925296
NM_000548.4(TSC2):c.630G>A (p.Ala210=) rs567756494
NM_000548.4(TSC2):c.657G>A (p.Leu219=) rs768570301
NM_000548.4(TSC2):c.672C>T (p.Ala224=) rs138897064
NM_000548.4(TSC2):c.681C>T (p.Cys227=) rs45443205
NM_000548.4(TSC2):c.696G>A (p.Pro232=) rs539797467
NM_000548.4(TSC2):c.708C>T (p.Leu236=) rs756121647
NM_000548.4(TSC2):c.716T>G (p.Phe239Cys) rs778544723
NM_000548.4(TSC2):c.721G>A (p.Val241Ile) rs200943828
NM_000548.4(TSC2):c.726C>T (p.Thr242=) rs570051626
NM_000548.4(TSC2):c.729C>G (p.Leu243=) rs45473698
NM_000548.4(TSC2):c.734G>A (p.Arg245His) rs397515011
NM_000548.4(TSC2):c.739A>G (p.Ile247Val) rs774526017
NM_000548.4(TSC2):c.759C>T (p.Cys253=) rs45517125
NM_000548.4(TSC2):c.760G>A (p.Glu254Lys) rs45517126
NM_000548.4(TSC2):c.775-4G>A rs754957491
NM_000548.4(TSC2):c.781C>T (p.Arg261Trp) rs45517130
NM_000548.4(TSC2):c.814G>A (p.Ala272Thr) rs373818076
NM_000548.4(TSC2):c.83C>A (p.Pro28His) rs1057522105
NM_000548.4(TSC2):c.848+7G>A rs45442896
NM_000548.4(TSC2):c.849-8A>G rs765336852
NM_000548.4(TSC2):c.855C>T (p.Tyr285=) rs794726983
NM_000548.4(TSC2):c.856A>G (p.Met286Val) rs1800748
NM_000548.4(TSC2):c.857T>C (p.Met286Thr) rs45517136
NM_000548.4(TSC2):c.861G>C (p.Glu287Asp) rs192567788
NM_000548.4(TSC2):c.886G>A (p.Val296Met) rs747237113
NM_000548.4(TSC2):c.922C>G (p.Arg308Gly) rs201144475
NM_000548.4(TSC2):c.975+7C>T rs372463702
NM_000548.4(TSC2):c.975+8G>A rs137853984
NM_000548.4(TSC2):c.976-3C>T rs45517151
NM_000548.4(TSC2):c.989C>T (p.Pro330Leu) rs140910086

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