ClinVar Miner

List of variants in gene TCTN2 studied for Meckel syndrome

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 508
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=) rs7966867 0.54127
NM_024809.5(TCTN2):c.1099+19T>C rs7137946 0.50815
NM_024809.5(TCTN2):c.891+22T>C rs7302449 0.50676
NM_024809.5(TCTN2):c.891+7G>A rs7313032 0.42667
NM_024809.5(TCTN2):c.1393+7C>T rs7298440 0.36136
NM_024809.5(TCTN2):c.873A>G (p.Ala291=) rs73418153 0.05717
NM_024809.5(TCTN2):c.225C>T (p.Asn75=) rs73416301 0.05714
NM_024809.5(TCTN2):c.83-4C>T rs73416299 0.05712
NM_024809.5(TCTN2):c.-55C>A rs78846567 0.03708
NM_024809.5(TCTN2):c.-95G>A rs7980060 0.02722
NM_024809.5(TCTN2):c.1612+12C>T rs117614122 0.01410
NM_024809.5(TCTN2):c.898C>T (p.Leu300=) rs77804131 0.01030
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln) rs79251326 0.00978
NM_024809.5(TCTN2):c.1505+3G>C rs111574617 0.00377
NM_024809.5(TCTN2):c.810C>T (p.Asp270=) rs144567556 0.00376
NM_024809.5(TCTN2):c.1585C>G (p.Leu529Val) rs113301547 0.00373
NM_024809.5(TCTN2):c.720C>G (p.Pro240=) rs149430216 0.00236
NM_024809.5(TCTN2):c.-2G>A rs141768405 0.00224
NM_024809.5(TCTN2):c.1985-12A>G rs78123598 0.00188
NM_024809.5(TCTN2):c.654C>T (p.Leu218=) rs138897437 0.00188
NM_024809.5(TCTN2):c.360C>G (p.Leu120=) rs142452647 0.00165
NM_024809.5(TCTN2):c.615C>T (p.Gly205=) rs147485641 0.00143
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met) rs145374149 0.00124
NM_024809.5(TCTN2):c.*258G>C rs540710300 0.00109
NM_024809.5(TCTN2):c.776A>G (p.Gln259Arg) rs151318349 0.00070
NM_024809.5(TCTN2):c.888G>A (p.Pro296=) rs116845100 0.00068
NM_024809.5(TCTN2):c.1100-17T>C rs538341461 0.00049
NM_024809.5(TCTN2):c.635A>G (p.Asn212Ser) rs139927033 0.00046
NM_024809.5(TCTN2):c.571T>G (p.Ser191Ala) rs146698907 0.00039
NM_024809.5(TCTN2):c.*477G>A rs147565143 0.00038
NM_024809.5(TCTN2):c.612C>T (p.Thr204=) rs761526808 0.00028
NM_024809.5(TCTN2):c.1643C>T (p.Pro548Leu) rs199931630 0.00027
NM_024809.5(TCTN2):c.1770-20A>G rs538008079 0.00024
NM_024809.5(TCTN2):c.500C>T (p.Pro167Leu) rs201140519 0.00022
NM_024809.5(TCTN2):c.1827C>T (p.Asp609=) rs150634667 0.00021
NM_024809.5(TCTN2):c.202A>G (p.Ile68Val) rs137939978 0.00021
NM_024809.5(TCTN2):c.1756G>A (p.Gly586Ser) rs199543783 0.00020
NM_024809.5(TCTN2):c.190+17T>C rs369406967 0.00020
NM_024809.5(TCTN2):c.1015A>G (p.Lys339Glu) rs563272016 0.00016
NM_024809.5(TCTN2):c.316T>G (p.Ser106Ala) rs148032415 0.00016
NM_024809.5(TCTN2):c.1394-20A>G rs372424469 0.00014
NM_024809.5(TCTN2):c.565-18T>G rs368179378 0.00012
NM_024809.5(TCTN2):c.1234+5C>G rs201382614 0.00011
NM_024809.5(TCTN2):c.588G>A (p.Thr196=) rs201545344 0.00011
NM_024809.5(TCTN2):c.1699C>T (p.Arg567Cys) rs369121651 0.00009
NM_024809.5(TCTN2):c.1712C>T (p.Ser571Leu) rs372687837 0.00009
NM_024809.5(TCTN2):c.1723G>A (p.Ala575Thr) rs202157566 0.00009
NM_024809.5(TCTN2):c.631G>A (p.Val211Ile) rs544183268 0.00009
NM_024809.5(TCTN2):c.1552G>A (p.Val518Ile) rs147469128 0.00008
NM_024809.5(TCTN2):c.564+3A>C rs761089886 0.00008
NM_024809.5(TCTN2):c.669G>A (p.Thr223=) rs199981419 0.00008
NM_024809.5(TCTN2):c.1150C>T (p.His384Tyr) rs372235872 0.00006
NM_024809.5(TCTN2):c.1662C>T (p.Asn554=) rs553095875 0.00006
NM_024809.5(TCTN2):c.1724C>T (p.Ala575Val) rs763649240 0.00006
NM_024809.5(TCTN2):c.1914A>G (p.Thr638=) rs769763960 0.00006
NM_024809.5(TCTN2):c.267+1G>A rs141752910 0.00006
NM_024809.5(TCTN2):c.598C>T (p.Arg200Trp) rs371559095 0.00006
NM_024809.5(TCTN2):c.764+19G>A rs371865300 0.00006
NM_024809.5(TCTN2):c.76G>T (p.Asp26Tyr) rs147746146 0.00006
NM_024809.5(TCTN2):c.910T>C (p.Cys304Arg) rs765523709 0.00006
NM_024809.5(TCTN2):c.1612+1G>A rs371537478 0.00005
NM_024809.5(TCTN2):c.259C>T (p.Pro87Ser) rs138562955 0.00005
NM_024809.5(TCTN2):c.267+3A>G rs748772785 0.00005
NM_024809.5(TCTN2):c.82+11C>T rs377654309 0.00005
NM_024809.5(TCTN2):c.*146C>T rs1046414186 0.00004
NM_024809.5(TCTN2):c.*587C>T rs548909798 0.00004
NM_024809.5(TCTN2):c.1055T>A (p.Ile352Asn) rs762326056 0.00004
NM_024809.5(TCTN2):c.1329G>A (p.Lys443=) rs543166165 0.00004
NM_024809.5(TCTN2):c.1337G>A (p.Arg446Gln) rs781699024 0.00004
NM_024809.5(TCTN2):c.1402G>A (p.Gly468Ser) rs148262537 0.00004
NM_024809.5(TCTN2):c.1474G>T (p.Val492Phe) rs1449279317 0.00004
NM_024809.5(TCTN2):c.1572C>T (p.Ser524=) rs367689968 0.00004
NM_024809.5(TCTN2):c.1612+11C>T rs376075139 0.00004
NM_024809.5(TCTN2):c.1848C>T (p.Ser616=) rs201834126 0.00004
NM_024809.5(TCTN2):c.1895+12G>A rs1248269049 0.00004
NM_024809.5(TCTN2):c.2066G>C (p.Trp689Ser) rs771335558 0.00004
NM_024809.5(TCTN2):c.273G>A (p.Val91=) rs375065995 0.00004
NM_024809.5(TCTN2):c.429T>C (p.Ile143=) rs188417716 0.00004
NM_024809.5(TCTN2):c.465G>A (p.Glu155=) rs150583279 0.00004
NM_024809.5(TCTN2):c.468C>T (p.Asn156=) rs771396774 0.00004
NM_024809.5(TCTN2):c.577A>C (p.Asn193His) rs370944870 0.00004
NM_024809.5(TCTN2):c.83-16T>G rs1223559773 0.00004
NM_024809.5(TCTN2):c.960C>T (p.Cys320=) rs145332333 0.00004
NM_024809.5(TCTN2):c.979T>C (p.Tyr327His) rs545101214 0.00004
NM_024809.5(TCTN2):c.1440T>C (p.Phe480=) rs760942775 0.00003
NM_024809.5(TCTN2):c.1990C>G (p.Leu664Val) rs554299771 0.00003
NM_024809.5(TCTN2):c.271G>T (p.Val91Leu) rs371662397 0.00003
NM_024809.5(TCTN2):c.325G>A (p.Glu109Lys) rs773010019 0.00003
NM_024809.5(TCTN2):c.412C>T (p.Leu138Phe) rs372053991 0.00003
NM_024809.5(TCTN2):c.444T>C (p.Ser148=) rs771060074 0.00003
NM_024809.5(TCTN2):c.449C>G (p.Thr150Ser) rs759741387 0.00003
NM_024809.5(TCTN2):c.630C>T (p.Asp210=) rs560269152 0.00003
NM_024809.5(TCTN2):c.679G>C (p.Gly227Arg) rs1051821648 0.00003
NM_024809.5(TCTN2):c.781T>C (p.Ser261Pro) rs140814969 0.00003
NM_024809.5(TCTN2):c.83-9C>G rs775671051 0.00003
NM_024809.5(TCTN2):c.1506-2A>G rs374349989 0.00002
NM_024809.5(TCTN2):c.1612+3A>G rs918049258 0.00002
NM_024809.5(TCTN2):c.1612C>T (p.Arg538Cys) rs561214391 0.00002
NM_024809.5(TCTN2):c.1794C>T (p.Tyr598=) rs193008632 0.00002
NM_024809.5(TCTN2):c.1813G>A (p.Glu605Lys) rs768079186 0.00002
NM_024809.5(TCTN2):c.1818C>G (p.His606Gln) rs778418417 0.00002
NM_024809.5(TCTN2):c.191-15G>A rs780792228 0.00002
NM_024809.5(TCTN2):c.1967G>C (p.Trp656Ser) rs200159224 0.00002
NM_024809.5(TCTN2):c.210G>T (p.Thr70=) rs1196817536 0.00002
NM_024809.5(TCTN2):c.289A>G (p.Arg97Gly) rs1226080375 0.00002
NM_024809.5(TCTN2):c.305T>C (p.Leu102Pro) rs779547974 0.00002
NM_024809.5(TCTN2):c.349C>T (p.Pro117Ser) rs148783076 0.00002
NM_024809.5(TCTN2):c.510T>C (p.Pro170=) rs769707766 0.00002
NM_024809.5(TCTN2):c.523T>G (p.Leu175Val) rs768824874 0.00002
NM_024809.5(TCTN2):c.548G>A (p.Arg183His) rs369164141 0.00002
NM_024809.5(TCTN2):c.642T>C (p.Pro214=) rs747382089 0.00002
NM_024809.5(TCTN2):c.652_659dup (p.Ala221fs) rs915737037 0.00002
NM_024809.5(TCTN2):c.703del (p.Leu235fs) rs760830696 0.00002
NM_024809.5(TCTN2):c.957A>G (p.Lys319=) rs1331215787 0.00002
NM_024809.5(TCTN2):c.978A>G (p.Leu326=) rs921429450 0.00002
NM_024809.5(TCTN2):c.*559C>T rs1427290366 0.00001
NM_024809.5(TCTN2):c.-15C>T rs575728856 0.00001
NM_024809.5(TCTN2):c.1060G>A (p.Glu354Lys) rs953263200 0.00001
NM_024809.5(TCTN2):c.1099+10G>A rs751385319 0.00001
NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg) rs187433682 0.00001
NM_024809.5(TCTN2):c.113G>A (p.Gly38Asp) rs765101825 0.00001
NM_024809.5(TCTN2):c.1180A>T (p.Ile394Phe) rs774166162 0.00001
NM_024809.5(TCTN2):c.1235-20T>A rs773929370 0.00001
NM_024809.5(TCTN2):c.1236G>T (p.Gly412=) rs376630400 0.00001
NM_024809.5(TCTN2):c.1321C>T (p.Leu441Phe) rs752861868 0.00001
NM_024809.5(TCTN2):c.1336C>T (p.Arg446Ter) rs757485757 0.00001
NM_024809.5(TCTN2):c.1370C>T (p.Thr457Met) rs202078439 0.00001
NM_024809.5(TCTN2):c.1393+15T>C rs541103051 0.00001
NM_024809.5(TCTN2):c.1393+19T>C rs1434022811 0.00001
NM_024809.5(TCTN2):c.1394-6T>C rs774357206 0.00001
NM_024809.5(TCTN2):c.1430C>T (p.Pro477Leu) rs749989620 0.00001
NM_024809.5(TCTN2):c.1462T>A (p.Cys488Ser) rs765771036 0.00001
NM_024809.5(TCTN2):c.1476C>T (p.Val492=) rs755762894 0.00001
NM_024809.5(TCTN2):c.1477G>A (p.Gly493Arg) rs375717971 0.00001
NM_024809.5(TCTN2):c.1497T>C (p.Thr499=) rs915966685 0.00001
NM_024809.5(TCTN2):c.1505+12A>G rs1179038667 0.00001
NM_024809.5(TCTN2):c.1612+13C>T rs372353543 0.00001
NM_024809.5(TCTN2):c.1613-16C>T rs777663928 0.00001
NM_024809.5(TCTN2):c.1626del (p.Asp543fs) rs863225220 0.00001
NM_024809.5(TCTN2):c.1651A>G (p.Ser551Gly) rs774515451 0.00001
NM_024809.5(TCTN2):c.1663G>A (p.Gly555Ser) rs776273224 0.00001
NM_024809.5(TCTN2):c.1689C>T (p.His563=) rs763961375 0.00001
NM_024809.5(TCTN2):c.1700G>A (p.Arg567His) rs780065531 0.00001
NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys) rs201010803 0.00001
NM_024809.5(TCTN2):c.17C>T (p.Pro6Leu) rs1362649464 0.00001
NM_024809.5(TCTN2):c.1824C>T (p.Ala608=) rs747771800 0.00001
NM_024809.5(TCTN2):c.1829T>C (p.Leu610Pro) rs554338311 0.00001
NM_024809.5(TCTN2):c.1849G>A (p.Val617Ile) rs376095561 0.00001
NM_024809.5(TCTN2):c.184G>C (p.Glu62Gln) rs774994149 0.00001
NM_024809.5(TCTN2):c.185A>C (p.Glu62Ala) rs376100033 0.00001
NM_024809.5(TCTN2):c.1872A>G (p.Ala624=) rs765238420 0.00001
NM_024809.5(TCTN2):c.1888_1889del (p.Leu630fs) rs1408997904 0.00001
NM_024809.5(TCTN2):c.191-16G>T rs756369722 0.00001
NM_024809.5(TCTN2):c.191-5T>G rs755362026 0.00001
NM_024809.5(TCTN2):c.1966T>C (p.Trp656Arg) rs756649431 0.00001
NM_024809.5(TCTN2):c.207G>A (p.Pro69=) rs775096865 0.00001
NM_024809.5(TCTN2):c.2087A>G (p.Tyr696Cys) rs188690113 0.00001
NM_024809.5(TCTN2):c.255G>C (p.Val85=) rs1244229343 0.00001
NM_024809.5(TCTN2):c.267+4A>C rs199924687 0.00001
NM_024809.5(TCTN2):c.301G>T (p.Gly101Cys) rs757725319 0.00001
NM_024809.5(TCTN2):c.335C>T (p.Ser112Phe) rs1955784094 0.00001
NM_024809.5(TCTN2):c.367dup (p.Leu123fs) rs748951253 0.00001
NM_024809.5(TCTN2):c.419A>G (p.Gln140Arg) rs375814526 0.00001
NM_024809.5(TCTN2):c.469G>A (p.Val157Met) rs1299672825 0.00001
NM_024809.5(TCTN2):c.490G>A (p.Val164Met) rs776834352 0.00001
NM_024809.5(TCTN2):c.504T>C (p.Leu168=) rs1359077600 0.00001
NM_024809.5(TCTN2):c.622G>C (p.Gly208Arg) rs1026850270 0.00001
NM_024809.5(TCTN2):c.677G>A (p.Arg226His) rs774785140 0.00001
NM_024809.5(TCTN2):c.688G>A (p.Asp230Asn) rs987899301 0.00001
NM_024809.5(TCTN2):c.707G>A (p.Cys236Tyr) rs1267166699 0.00001
NM_024809.5(TCTN2):c.723T>C (p.Leu241=) rs373992170 0.00001
NM_024809.5(TCTN2):c.731C>T (p.Thr244Ile) rs760376471 0.00001
NM_024809.5(TCTN2):c.796T>C (p.Tyr266His) rs770325331 0.00001
NM_024809.5(TCTN2):c.82+7A>C rs767155532 0.00001
NM_024809.5(TCTN2):c.83-20C>T rs1311027569 0.00001
NM_024809.5(TCTN2):c.83-6G>A rs756232884 0.00001
NM_024809.5(TCTN2):c.887C>T (p.Pro296Leu) rs750458642 0.00001
NM_024809.5(TCTN2):c.89T>C (p.Ile30Thr) rs760245764 0.00001
NM_024809.5(TCTN2):c.908A>T (p.Gln303Leu) rs759754931 0.00001
NM_024809.5(TCTN2):c.914T>C (p.Met305Thr) rs1166016156 0.00001
NM_024809.5(TCTN2):c.988C>T (p.Arg330Ter) rs754596743 0.00001
NC_000012.11:g.(?_124158142)_(124163856_?)dup
NC_000012.11:g.(?_124177185)_(124177290_?)del
NC_000012.11:g.(?_124189059)_(124192260_?)del
NC_000012.11:g.(?_124192131)_(124192260_?)del
NC_000012.12:g.(?_123671221)_(123707733_?)dup
NC_000012.12:g.(?_123692638)_(123707733_?)dup
NC_000012.12:g.(?_123699684)_(123699830_?)del
NM_024809.5(TCTN2):c.*166T>G rs886049057
NM_024809.5(TCTN2):c.*290C>G rs886531596
NM_024809.5(TCTN2):c.*493T>A rs569489612
NM_024809.5(TCTN2):c.*562G>C rs772401980
NM_024809.5(TCTN2):c.*608T>C rs1956257782
NM_024809.5(TCTN2):c.*71T>G rs1956249051
NM_024809.5(TCTN2):c.1008G>A (p.Ala336=)
NM_024809.5(TCTN2):c.100A>C (p.Ile34Leu)
NM_024809.5(TCTN2):c.1033+13T>A rs368148687
NM_024809.5(TCTN2):c.1033+18G>C
NM_024809.5(TCTN2):c.1033+1G>A
NM_024809.5(TCTN2):c.1034-12T>C
NM_024809.5(TCTN2):c.1043C>T (p.Thr348Ile)
NM_024809.5(TCTN2):c.1045C>G (p.Pro349Ala) rs2135843071
NM_024809.5(TCTN2):c.1060G>C (p.Glu354Gln) rs953263200
NM_024809.5(TCTN2):c.1072G>A (p.Asp358Asn)
NM_024809.5(TCTN2):c.1074C>G (p.Asp358Glu)
NM_024809.5(TCTN2):c.1083A>G (p.Lys361=)
NM_024809.5(TCTN2):c.1088T>C (p.Ile363Thr)
NM_024809.5(TCTN2):c.1099+19T>A
NM_024809.5(TCTN2):c.1099+19_1099+20inv
NM_024809.5(TCTN2):c.1099+6del rs2135843158
NM_024809.5(TCTN2):c.1099+8del
NM_024809.5(TCTN2):c.1100-18A>G
NM_024809.5(TCTN2):c.1107T>A (p.Pro369=)
NM_024809.5(TCTN2):c.1116C>T (p.Asn372=)
NM_024809.5(TCTN2):c.1123A>G (p.Thr375Ala) rs1256664879
NM_024809.5(TCTN2):c.112G>T (p.Gly38Cys) rs1955751143
NM_024809.5(TCTN2):c.1135G>T (p.Val379Leu)
NM_024809.5(TCTN2):c.1154A>G (p.Tyr385Cys)
NM_024809.5(TCTN2):c.1165T>C (p.Trp389Arg) rs200080239
NM_024809.5(TCTN2):c.1165T>G (p.Trp389Gly)
NM_024809.5(TCTN2):c.1167G>T (p.Trp389Cys) rs1956089092
NM_024809.5(TCTN2):c.1173_1178del (p.Asn392_Thr393del)
NM_024809.5(TCTN2):c.1179C>A (p.Thr393=)
NM_024809.5(TCTN2):c.1190T>A (p.Ile397Lys)
NM_024809.5(TCTN2):c.1208G>A (p.Arg403Lys)
NM_024809.5(TCTN2):c.1209G>A (p.Arg403=)
NM_024809.5(TCTN2):c.1234+7_1234+8del
NM_024809.5(TCTN2):c.1235-5T>C
NM_024809.5(TCTN2):c.1245A>G (p.Thr415=)
NM_024809.5(TCTN2):c.1248G>A (p.Gln416=) rs766355400
NM_024809.5(TCTN2):c.1250_1251del (p.Arg417fs) rs2135847212
NM_024809.5(TCTN2):c.1264T>A (p.Phe422Ile)
NM_024809.5(TCTN2):c.1267T>G (p.Leu423Val) rs1956093773
NM_024809.5(TCTN2):c.1286A>T (p.Asn429Ile)
NM_024809.5(TCTN2):c.1286dup (p.Asn429fs) rs1555293215
NM_024809.5(TCTN2):c.1288GAA[2] (p.Glu432del)
NM_024809.5(TCTN2):c.1293A>G (p.Glu431=)
NM_024809.5(TCTN2):c.1303G>A (p.Gly435Arg)
NM_024809.5(TCTN2):c.1312+14_1312+15del
NM_024809.5(TCTN2):c.1312+17C>T
NM_024809.5(TCTN2):c.1312+1G>C
NM_024809.5(TCTN2):c.1312+3A>G rs1381902683
NM_024809.5(TCTN2):c.1313-14T>C
NM_024809.5(TCTN2):c.1317C>G (p.Tyr439Ter)
NM_024809.5(TCTN2):c.1329del (p.Lys443fs)
NM_024809.5(TCTN2):c.134dup (p.Val46fs) rs797046040
NM_024809.5(TCTN2):c.1366G>A (p.Val456Ile)
NM_024809.5(TCTN2):c.1371G>A (p.Thr457=)
NM_024809.5(TCTN2):c.1377A>C (p.Leu459Phe)
NM_024809.5(TCTN2):c.1379A>C (p.His460Pro)
NM_024809.5(TCTN2):c.1389A>G (p.Gln463=)
NM_024809.5(TCTN2):c.1391C>T (p.Ser464Leu) rs991572501
NM_024809.5(TCTN2):c.1393+8G>A
NM_024809.5(TCTN2):c.1394-10_1394-5del rs754718630
NM_024809.5(TCTN2):c.1394-5T>C
NM_024809.5(TCTN2):c.1403G>T (p.Gly468Val) rs1345786491
NM_024809.5(TCTN2):c.1411A>C (p.Thr471Pro) rs2135849648
NM_024809.5(TCTN2):c.1432A>G (p.Ile478Val)
NM_024809.5(TCTN2):c.1436T>G (p.Leu479Ter)
NM_024809.5(TCTN2):c.1447A>C (p.Asn483His)
NM_024809.5(TCTN2):c.1449T>C (p.Asn483=)
NM_024809.5(TCTN2):c.147C>A (p.Thr49=)
NM_024809.5(TCTN2):c.147C>T (p.Thr49=)
NM_024809.5(TCTN2):c.148G>A (p.Glu50Lys) rs959524376
NM_024809.5(TCTN2):c.1498del (p.Gln500fs)
NM_024809.5(TCTN2):c.1499A>G (p.Gln500Arg) rs866607617
NM_024809.5(TCTN2):c.1505+13T>C rs2135849825
NM_024809.5(TCTN2):c.1505+15G>A
NM_024809.5(TCTN2):c.1505+3G>A
NM_024809.5(TCTN2):c.1506-17G>A
NM_024809.5(TCTN2):c.1506-20A>C rs1011092991
NM_024809.5(TCTN2):c.1509G>T (p.Glu503Asp)
NM_024809.5(TCTN2):c.1528G>C (p.Asp510His)
NM_024809.5(TCTN2):c.1538T>C (p.Ile513Thr)
NM_024809.5(TCTN2):c.1545G>A (p.Ala515=)
NM_024809.5(TCTN2):c.1551C>T (p.His517=)
NM_024809.5(TCTN2):c.1569C>T (p.Asn523=) rs2135852947
NM_024809.5(TCTN2):c.1573G>C (p.Asp525His) rs763505614
NM_024809.5(TCTN2):c.1576T>G (p.Tyr526Asp) rs2135852961
NM_024809.5(TCTN2):c.1579G>A (p.Ala527Thr) rs760206821
NM_024809.5(TCTN2):c.1579G>T (p.Ala527Ser) rs760206821
NM_024809.5(TCTN2):c.1602C>G (p.Leu534=) rs752527801
NM_024809.5(TCTN2):c.1612+12C>A
NM_024809.5(TCTN2):c.1612+14G>A
NM_024809.5(TCTN2):c.1612+15G>C
NM_024809.5(TCTN2):c.1612+16G>A
NM_024809.5(TCTN2):c.1612+9A>C
NM_024809.5(TCTN2):c.1641C>T (p.Asp547=) rs555666775
NM_024809.5(TCTN2):c.1645C>T (p.Leu549=)
NM_024809.5(TCTN2):c.1655G>A (p.Ser552Asn)
NM_024809.5(TCTN2):c.1671C>T (p.Cys557=)
NM_024809.5(TCTN2):c.1685C>T (p.Ala562Val) rs2135859426
NM_024809.5(TCTN2):c.1687C>T (p.His563Tyr)
NM_024809.5(TCTN2):c.1692G>A (p.Leu564=) rs751298784
NM_024809.5(TCTN2):c.1704C>G (p.Ile568Met)
NM_024809.5(TCTN2):c.1705C>G (p.Leu569Val)
NM_024809.5(TCTN2):c.170C>T (p.Ala57Val)
NM_024809.5(TCTN2):c.1713G>A (p.Ser571=)
NM_024809.5(TCTN2):c.1722C>T (p.Gly574=) rs557018110
NM_024809.5(TCTN2):c.1725G>A (p.Ala575=)
NM_024809.5(TCTN2):c.1725G>C (p.Ala575=) rs145483549
NM_024809.5(TCTN2):c.1726G>C (p.Val576Leu)
NM_024809.5(TCTN2):c.1728G>A (p.Val576=)
NM_024809.5(TCTN2):c.1743_1744delinsTT (p.Gln581_Gln582delinsHisTer)
NM_024809.5(TCTN2):c.1751T>C (p.Ile584Thr)
NM_024809.5(TCTN2):c.1752A>G (p.Ile584Met)
NM_024809.5(TCTN2):c.1769+10C>T
NM_024809.5(TCTN2):c.1769+8C>T
NM_024809.5(TCTN2):c.1769+9A>G rs528667731
NM_024809.5(TCTN2):c.1770-13del rs1566265391
NM_024809.5(TCTN2):c.1770-18G>A
NM_024809.5(TCTN2):c.1770-2A>G rs1566265412
NM_024809.5(TCTN2):c.1781T>C (p.Val594Ala)
NM_024809.5(TCTN2):c.1791G>T (p.Gln597His)
NM_024809.5(TCTN2):c.1797G>A (p.Gln599=)
NM_024809.5(TCTN2):c.1809C>T (p.Thr603=)
NM_024809.5(TCTN2):c.1810T>C (p.Cys604Arg)
NM_024809.5(TCTN2):c.1812T>G (p.Cys604Trp) rs1593871306
NM_024809.5(TCTN2):c.1815G>A (p.Glu605=)
NM_024809.5(TCTN2):c.1847C>A (p.Ser616Tyr) rs1436566157
NM_024809.5(TCTN2):c.184G>T (p.Glu62Ter)
NM_024809.5(TCTN2):c.1851C>T (p.Val617=) rs1956235464
NM_024809.5(TCTN2):c.1852C>T (p.Gln618Ter) rs1956235509
NM_024809.5(TCTN2):c.1873C>T (p.Gln625Ter) rs863225426
NM_024809.5(TCTN2):c.1873_1874del (p.Gln625fs) rs1025526121
NM_024809.5(TCTN2):c.1881C>G (p.Pro627=)
NM_024809.5(TCTN2):c.1881C>T (p.Pro627=) rs139902134
NM_024809.5(TCTN2):c.1882C>T (p.His628Tyr) rs2135862503
NM_024809.5(TCTN2):c.1886C>G (p.Pro629Arg) rs886049056
NM_024809.5(TCTN2):c.1887C>G (p.Pro629=) rs1276465193
NM_024809.5(TCTN2):c.188C>G (p.Ala63Gly)
NM_024809.5(TCTN2):c.1892C>T (p.Thr631Ile)
NM_024809.5(TCTN2):c.1896-11A>C rs2135862710
NM_024809.5(TCTN2):c.1896-14A>G
NM_024809.5(TCTN2):c.1896-16_1896-15insACTTGTAGTTTTTG
NM_024809.5(TCTN2):c.1896-18C>A
NM_024809.5(TCTN2):c.18G>A (p.Pro6=)
NM_024809.5(TCTN2):c.190+14C>T
NM_024809.5(TCTN2):c.1904T>G (p.Ile635Ser) rs2135862767
NM_024809.5(TCTN2):c.191-10_191-8del rs1955759155
NM_024809.5(TCTN2):c.191-12T>G
NM_024809.5(TCTN2):c.191-19G>A
NM_024809.5(TCTN2):c.191-19G>T
NM_024809.5(TCTN2):c.191-20T>C rs2135814239
NM_024809.5(TCTN2):c.1910A>T (p.Tyr637Phe)
NM_024809.5(TCTN2):c.1926C>T (p.Cys642=)
NM_024809.5(TCTN2):c.1928A>G (p.Asn643Ser)
NM_024809.5(TCTN2):c.192A>C (p.Gly64=)
NM_024809.5(TCTN2):c.1943_1944del (p.Cys648fs) rs2135862848
NM_024809.5(TCTN2):c.1948C>T (p.Pro650Ser)
NM_024809.5(TCTN2):c.1949C>T (p.Pro650Leu) rs1393954437
NM_024809.5(TCTN2):c.1950G>A (p.Pro650=)
NM_024809.5(TCTN2):c.1958T>C (p.Leu653Pro)
NM_024809.5(TCTN2):c.1958_1963del (p.Leu653_Tyr654del) rs377628976
NM_024809.5(TCTN2):c.1959A>G (p.Leu653=)
NM_024809.5(TCTN2):c.1987G>C (p.Glu663Gln) rs756940400
NM_024809.5(TCTN2):c.2001G>C (p.Gln667His)
NM_024809.5(TCTN2):c.2005G>A (p.Val669Ile) rs768699111
NM_024809.5(TCTN2):c.200C>G (p.Pro67Arg)
NM_024809.5(TCTN2):c.200C>T (p.Pro67Leu) rs772417842
NM_024809.5(TCTN2):c.2020C>T (p.Leu674=)
NM_024809.5(TCTN2):c.2029T>C (p.Leu677=) rs1271806468
NM_024809.5(TCTN2):c.2029T>G (p.Leu677Val)
NM_024809.5(TCTN2):c.2034C>T (p.Phe678=)
NM_024809.5(TCTN2):c.2047T>G (p.Leu683Val)
NM_024809.5(TCTN2):c.2049G>T (p.Leu683Phe) rs975324103
NM_024809.5(TCTN2):c.206C>T (p.Pro69Leu)
NM_024809.5(TCTN2):c.2085C>G (p.Ala695=) rs950593517
NM_024809.5(TCTN2):c.210G>A (p.Thr70=)
NM_024809.5(TCTN2):c.217G>C (p.Val73Leu) rs1955760079
NM_024809.5(TCTN2):c.225_226delinsTC (p.Asn76His)
NM_024809.5(TCTN2):c.22G>A (p.Ala8Thr)
NM_024809.5(TCTN2):c.233C>G (p.Thr78Arg) rs1015790415
NM_024809.5(TCTN2):c.234G>A (p.Thr78=)
NM_024809.5(TCTN2):c.235G>A (p.Glu79Lys)
NM_024809.5(TCTN2):c.239A>C (p.Asp80Ala)
NM_024809.5(TCTN2):c.246C>T (p.Ser82=) rs552719113
NM_024809.5(TCTN2):c.258C>A (p.Ile86=)
NM_024809.5(TCTN2):c.25C>T (p.Leu9Phe)
NM_024809.5(TCTN2):c.267+13G>A
NM_024809.5(TCTN2):c.267+17A>T rs1593828714
NM_024809.5(TCTN2):c.267+20_267+21delinsAC
NM_024809.5(TCTN2):c.267+21_267+23del rs768504261
NM_024809.5(TCTN2):c.267G>T (p.Ala89=)
NM_024809.5(TCTN2):c.268-15A>G
NM_024809.5(TCTN2):c.268-15A>T
NM_024809.5(TCTN2):c.268-2A>G
NM_024809.5(TCTN2):c.269A>G (p.Lys90Arg) rs879080073
NM_024809.5(TCTN2):c.273G>T (p.Val91=)
NM_024809.5(TCTN2):c.275_276insCAC (p.Leu92delinsPheThr)
NM_024809.5(TCTN2):c.27T>A (p.Leu9=)
NM_024809.5(TCTN2):c.27T>G (p.Leu9=) rs942739172
NM_024809.5(TCTN2):c.282G>C (p.Val94=) rs146257198
NM_024809.5(TCTN2):c.317C>G (p.Ser106Cys)
NM_024809.5(TCTN2):c.333T>C (p.Asp111=) rs534113568
NM_024809.5(TCTN2):c.347C>A (p.Ser116Tyr)
NM_024809.5(TCTN2):c.350C>T (p.Pro117Leu)
NM_024809.5(TCTN2):c.352T>G (p.Cys118Gly) rs2135816491
NM_024809.5(TCTN2):c.357C>T (p.Ile119=) rs1335976509
NM_024809.5(TCTN2):c.374T>G (p.Val125Gly)
NM_024809.5(TCTN2):c.458C>T (p.Ala153Val)
NM_024809.5(TCTN2):c.463+17_463+20del
NM_024809.5(TCTN2):c.464-13G>A
NM_024809.5(TCTN2):c.464-7T>A rs1955862855
NM_024809.5(TCTN2):c.464-8C>G
NM_024809.5(TCTN2):c.481C>T (p.Pro161Ser)
NM_024809.5(TCTN2):c.485A>G (p.Asn162Ser)
NM_024809.5(TCTN2):c.487C>T (p.Gln163Ter)
NM_024809.5(TCTN2):c.490G>T (p.Val164Leu) rs776834352
NM_024809.5(TCTN2):c.512G>A (p.Cys171Tyr) rs1247122928
NM_024809.5(TCTN2):c.521A>G (p.Asn174Ser)
NM_024809.5(TCTN2):c.524dup (p.Leu175fs) rs760034947
NM_024809.5(TCTN2):c.526A>G (p.Thr176Ala)
NM_024809.5(TCTN2):c.528A>T (p.Thr176=)
NM_024809.5(TCTN2):c.529G>A (p.Ala177Thr)
NM_024809.5(TCTN2):c.543T>C (p.Asp181=)
NM_024809.5(TCTN2):c.545T>C (p.Val182Ala)
NM_024809.5(TCTN2):c.547C>T (p.Arg183Cys) rs774520912
NM_024809.5(TCTN2):c.564+11del rs767884874
NM_024809.5(TCTN2):c.564+13G>A
NM_024809.5(TCTN2):c.565-1G>A
NM_024809.5(TCTN2):c.565-5T>G
NM_024809.5(TCTN2):c.573del (p.Ser192fs) rs2135834102
NM_024809.5(TCTN2):c.577A>G (p.Asn193Asp)
NM_024809.5(TCTN2):c.580T>G (p.Leu194Val)
NM_024809.5(TCTN2):c.585A>G (p.Thr195=) rs2135834132
NM_024809.5(TCTN2):c.587C>T (p.Thr196Met)
NM_024809.5(TCTN2):c.590T>C (p.Leu197Pro)
NM_024809.5(TCTN2):c.613G>A (p.Gly205Ser)
NM_024809.5(TCTN2):c.613G>T (p.Gly205Cys) rs201827132
NM_024809.5(TCTN2):c.615C>A (p.Gly205=) rs147485641
NM_024809.5(TCTN2):c.649C>G (p.Gln217Glu)
NM_024809.5(TCTN2):c.660T>C (p.Ser220=) rs2135834313
NM_024809.5(TCTN2):c.671C>A (p.Thr224Lys) rs376996387
NM_024809.5(TCTN2):c.671C>T (p.Thr224Met) rs376996387
NM_024809.5(TCTN2):c.672G>A (p.Thr224=)
NM_024809.5(TCTN2):c.673A>T (p.Thr225Ser)
NM_024809.5(TCTN2):c.684C>T (p.Val228=)
NM_024809.5(TCTN2):c.687C>T (p.Pro229=)
NM_024809.5(TCTN2):c.690T>C (p.Asp230=)
NM_024809.5(TCTN2):c.697C>T (p.Pro233Ser) rs1156772105
NM_024809.5(TCTN2):c.6C>A (p.Gly2=)
NM_024809.5(TCTN2):c.716C>A (p.Ser239Tyr)
NM_024809.5(TCTN2):c.716C>G (p.Ser239Cys) rs149186771
NM_024809.5(TCTN2):c.716C>T (p.Ser239Phe)
NM_024809.5(TCTN2):c.72G>A (p.Trp24Ter) rs1955746650
NM_024809.5(TCTN2):c.738C>G (p.Phe246Leu)
NM_024809.5(TCTN2):c.752A>G (p.Tyr251Cys) rs368146331
NM_024809.5(TCTN2):c.756T>C (p.His252=) rs1593847530
NM_024809.5(TCTN2):c.758G>T (p.Gly253Val) rs1955979058
NM_024809.5(TCTN2):c.761C>T (p.Ala254Val)
NM_024809.5(TCTN2):c.764+13_764+14delinsTT rs2135834618
NM_024809.5(TCTN2):c.764+17C>T
NM_024809.5(TCTN2):c.764+18C>T
NM_024809.5(TCTN2):c.764+19G>T rs371865300
NM_024809.5(TCTN2):c.764+20C>T
NM_024809.5(TCTN2):c.764+9C>G rs1955979503
NM_024809.5(TCTN2):c.765-11T>C
NM_024809.5(TCTN2):c.765-1G>A
NM_024809.5(TCTN2):c.765-1G>C
NM_024809.5(TCTN2):c.765-20C>G
NM_024809.5(TCTN2):c.765-9G>A
NM_024809.5(TCTN2):c.771C>A (p.Pro257=) rs2135836168
NM_024809.5(TCTN2):c.795A>G (p.Val265=)
NM_024809.5(TCTN2):c.797A>T (p.Tyr266Phe)
NM_024809.5(TCTN2):c.7T>C (p.Phe3Leu)
NM_024809.5(TCTN2):c.800_801del (p.Val267fs)
NM_024809.5(TCTN2):c.802G>T (p.Asp268Tyr)
NM_024809.5(TCTN2):c.806C>G (p.Thr269Ser)
NM_024809.5(TCTN2):c.811G>A (p.Ala271Thr)
NM_024809.5(TCTN2):c.813A>C (p.Ala271=) rs886049054
NM_024809.5(TCTN2):c.82+15G>T
NM_024809.5(TCTN2):c.82+17A>C rs2135813322
NM_024809.5(TCTN2):c.82+1G>T
NM_024809.5(TCTN2):c.822T>C (p.Phe274=)
NM_024809.5(TCTN2):c.83-12C>T rs2135813538
NM_024809.5(TCTN2):c.83-18C>T
NM_024809.5(TCTN2):c.83-2A>G
NM_024809.5(TCTN2):c.830T>C (p.Phe277Ser) rs1566252816
NM_024809.5(TCTN2):c.848A>T (p.Asp283Val) rs2135836324
NM_024809.5(TCTN2):c.852C>T (p.Pro284=) rs2135836333
NM_024809.5(TCTN2):c.858G>T (p.Met286Ile) rs371804063
NM_024809.5(TCTN2):c.861T>C (p.Thr287=)
NM_024809.5(TCTN2):c.862_863del (p.Val288fs) rs1955997540
NM_024809.5(TCTN2):c.877T>A (p.Phe293Ile) rs201322440
NM_024809.5(TCTN2):c.891+12A>G
NM_024809.5(TCTN2):c.891+18A>G
NM_024809.5(TCTN2):c.891+1G>A
NM_024809.5(TCTN2):c.891+5T>G rs2135836443
NM_024809.5(TCTN2):c.891+6C>T
NM_024809.5(TCTN2):c.891+7_891+8inv
NM_024809.5(TCTN2):c.892-18T>C rs1319716996
NM_024809.5(TCTN2):c.892-19C>G
NM_024809.5(TCTN2):c.892-7C>T rs2135839788
NM_024809.5(TCTN2):c.892G>A (p.Val298Met)
NM_024809.5(TCTN2):c.892G>C (p.Val298Leu) rs886049055
NM_024809.5(TCTN2):c.898del (p.Leu300fs)
NM_024809.5(TCTN2):c.902C>T (p.Ala301Val)
NM_024809.5(TCTN2):c.921C>T (p.Asn307=)
NM_024809.5(TCTN2):c.922G>A (p.Ala308Thr)
NM_024809.5(TCTN2):c.92C>G (p.Pro31Arg) rs1009530513
NM_024809.5(TCTN2):c.92C>T (p.Pro31Leu) rs1009530513
NM_024809.5(TCTN2):c.94C>T (p.Pro32Ser) rs2135813593
NM_024809.5(TCTN2):c.961G>A (p.Val321Ile)
NM_024809.5(TCTN2):c.964dup (p.Thr322fs) rs746186338
NM_024809.5(TCTN2):c.965C>T (p.Thr322Ile) rs2135839958
NM_024809.5(TCTN2):c.97T>C (p.Phe33Leu)
NM_024809.5(TCTN2):c.993T>C (p.Asp331=) rs2135840040

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.