ClinVar Miner

List of variants in gene TCTN2 reported as uncertain significance for Joubert syndrome; Meckel-Gruber syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 219
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met) rs145374149 0.00124
NM_024809.5(TCTN2):c.776A>G (p.Gln259Arg) rs151318349 0.00070
NM_024809.5(TCTN2):c.1756G>A (p.Gly586Ser) rs199543783 0.00020
NM_024809.5(TCTN2):c.500C>T (p.Pro167Leu) rs201140519 0.00020
NM_024809.5(TCTN2):c.316T>G (p.Ser106Ala) rs148032415 0.00016
NM_024809.5(TCTN2):c.1234+5C>G rs201382614 0.00011
NM_024809.5(TCTN2):c.1723G>A (p.Ala575Thr) rs202157566 0.00010
NM_024809.5(TCTN2):c.631G>A (p.Val211Ile) rs544183268 0.00010
NM_024809.5(TCTN2):c.1712C>T (p.Ser571Leu) rs372687837 0.00009
NM_024809.5(TCTN2):c.22G>A (p.Ala8Thr) rs773471004 0.00009
NM_024809.5(TCTN2):c.1552G>A (p.Val518Ile) rs147469128 0.00008
NM_024809.5(TCTN2):c.1699C>T (p.Arg567Cys) rs369121651 0.00008
NM_024809.5(TCTN2):c.76G>T (p.Asp26Tyr) rs147746146 0.00007
NM_024809.5(TCTN2):c.1724C>T (p.Ala575Val) rs763649240 0.00006
NM_024809.5(TCTN2):c.598C>T (p.Arg200Trp) rs371559095 0.00006
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.349C>T (p.Pro117Ser) rs148783076 0.00005
NM_024809.5(TCTN2):c.738C>G (p.Phe246Leu) rs899417311 0.00005
NM_024809.5(TCTN2):c.82+11C>T rs377654309 0.00005
NM_024809.5(TCTN2):c.910T>C (p.Cys304Arg) rs765523709 0.00005
NM_024809.5(TCTN2):c.1055T>A (p.Ile352Asn) rs762326056 0.00004
NM_024809.5(TCTN2):c.1337G>A (p.Arg446Gln) rs781699024 0.00004
NM_024809.5(TCTN2):c.1379A>C (p.His460Pro) rs770515038 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.2066G>C (p.Trp689Ser) rs771335558 0.00004
NM_024809.5(TCTN2):c.577A>C (p.Asn193His) rs370944870 0.00004
NM_024809.5(TCTN2):c.979T>C (p.Tyr327His) rs545101214 0.00004
NM_024809.5(TCTN2):c.1015A>G (p.Lys339Glu) rs563272016 0.00003
NM_024809.5(TCTN2):c.1700G>A (p.Arg567His) rs780065531 0.00003
NM_024809.5(TCTN2):c.1910A>T (p.Tyr637Phe) rs988198782 0.00003
NM_024809.5(TCTN2):c.1948C>T (p.Pro650Ser) rs773680296 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.449C>G (p.Thr150Ser) rs759741387 0.00003
NM_024809.5(TCTN2):c.523T>G (p.Leu175Val) rs768824874 0.00003
NM_024809.5(TCTN2):c.580T>G (p.Leu194Val) rs773579477 0.00003
NM_024809.5(TCTN2):c.679G>C (p.Gly227Arg) rs1051821648 0.00003
NM_024809.5(TCTN2):c.765-11T>C rs199903945 0.00003
NM_024809.5(TCTN2):c.781T>C (p.Ser261Pro) rs140814969 0.00003
NM_024809.5(TCTN2):c.1154A>G (p.Tyr385Cys) rs761842049 0.00002
NM_024809.5(TCTN2):c.1509G>T (p.Glu503Asp) rs143000636 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.1813G>A (p.Glu605Lys) rs768079186 0.00002
NM_024809.5(TCTN2):c.1818C>G (p.His606Gln) rs778418417 0.00002
NM_024809.5(TCTN2):c.1967G>C (p.Trp656Ser) rs200159224 0.00002
NM_024809.5(TCTN2):c.305T>C (p.Leu102Pro) rs779547974 0.00002
NM_024809.5(TCTN2):c.548G>A (p.Arg183His) rs369164141 0.00002
NM_024809.5(TCTN2):c.892G>A (p.Val298Met) rs886049055 0.00002
NM_024809.5(TCTN2):c.1060G>A (p.Glu354Lys) rs953263200 0.00001
NM_024809.5(TCTN2):c.1074C>G (p.Asp358Glu) rs764847666 0.00001
NM_024809.5(TCTN2):c.1135G>T (p.Val379Leu) rs779079765 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.1208G>A (p.Arg403Lys) rs1956089754 0.00001
NM_024809.5(TCTN2):c.1303G>A (p.Gly435Arg) rs747448755 0.00001
NM_024809.5(TCTN2):c.1321C>T (p.Leu441Phe) rs752861868 0.00001
NM_024809.5(TCTN2):c.1370C>T (p.Thr457Met) rs202078439 0.00001
NM_024809.5(TCTN2):c.1377A>C (p.Leu459Phe) rs1324909801 0.00001
NM_024809.5(TCTN2):c.1391C>T (p.Ser464Leu) rs991572501 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.1477G>A (p.Gly493Arg) rs375717971 0.00001
NM_024809.5(TCTN2):c.148G>A (p.Glu50Lys) rs959524376 0.00001
NM_024809.5(TCTN2):c.1528G>C (p.Asp510His) rs368451729 0.00001
NM_024809.5(TCTN2):c.1651A>G (p.Ser551Gly) rs774515451 0.00001
NM_024809.5(TCTN2):c.1655G>A (p.Ser552Asn) rs184121410 0.00001
NM_024809.5(TCTN2):c.1663G>A (p.Gly555Ser) rs776273224 0.00001
NM_024809.5(TCTN2):c.1687C>T (p.His563Tyr) rs965551735 0.00001
NM_024809.5(TCTN2):c.1705C>G (p.Leu569Val) rs371239697 0.00001
NM_024809.5(TCTN2):c.170C>T (p.Ala57Val) rs1335349033 0.00001
NM_024809.5(TCTN2):c.1726G>C (p.Val576Leu) rs1322947429 0.00001
NM_024809.5(TCTN2):c.1781T>C (p.Val594Ala) rs751967472 0.00001
NM_024809.5(TCTN2):c.17C>T (p.Pro6Leu) rs1362649464 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.188C>G (p.Ala63Gly) rs1295315943 0.00001
NM_024809.5(TCTN2):c.1892C>T (p.Thr631Ile) rs752018832 0.00001
NM_024809.5(TCTN2):c.1949C>T (p.Pro650Leu) rs1393954437 0.00001
NM_024809.5(TCTN2):c.1966T>C (p.Trp656Arg) rs756649431 0.00001
NM_024809.5(TCTN2):c.2005G>A (p.Val669Ile) rs768699111 0.00001
NM_024809.5(TCTN2):c.206C>T (p.Pro69Leu) rs769556542 0.00001
NM_024809.5(TCTN2):c.2087A>G (p.Tyr696Cys) rs188690113 0.00001
NM_024809.5(TCTN2):c.239A>C (p.Asp80Ala) rs774095891 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.317C>G (p.Ser106Cys) rs771740049 0.00001
NM_024809.5(TCTN2):c.335C>T (p.Ser112Phe) rs1955784094 0.00001
NM_024809.5(TCTN2):c.350C>T (p.Pro117Leu) rs764400246 0.00001
NM_024809.5(TCTN2):c.419A>G (p.Gln140Arg) rs375814526 0.00001
NM_024809.5(TCTN2):c.458C>T (p.Ala153Val) rs868322385 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.526A>G (p.Thr176Ala) rs1003517391 0.00001
NM_024809.5(TCTN2):c.587C>T (p.Thr196Met) rs761087301 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.731C>T (p.Thr244Ile) rs760376471 0.00001
NM_024809.5(TCTN2):c.796T>C (p.Tyr266His) rs770325331 0.00001
NM_024809.5(TCTN2):c.811G>A (p.Ala271Thr) rs757163495 0.00001
NM_024809.5(TCTN2):c.830T>C (p.Phe277Ser) rs1566252816 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
NC_000012.11:g.(?_124158142)_(124163856_?)dup
NC_000012.11:g.(?_124177185)_(124177290_?)del
NC_000012.11:g.(?_124192131)_(124192260_?)del
NC_000012.12:g.(?_123671221)_(123707733_?)dup
NC_000012.12:g.(?_123692638)_(123707733_?)dup
NM_024809.5(TCTN2):c.100A>C (p.Ile34Leu) rs2541746318
NM_024809.5(TCTN2):c.1043C>T (p.Thr348Ile) rs564412882
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) rs1956057786
NM_024809.5(TCTN2):c.1088T>C (p.Ile363Thr) rs2541784059
NM_024809.5(TCTN2):c.1099+19_1099+20inv
NM_024809.5(TCTN2):c.1099+6del rs2135843158
NM_024809.5(TCTN2):c.1123A>G (p.Thr375Ala) rs1256664879
NM_024809.5(TCTN2):c.1124C>G (p.Thr375Ser)
NM_024809.5(TCTN2):c.112G>T (p.Gly38Cys) rs1955751143
NM_024809.5(TCTN2):c.1165T>C (p.Trp389Arg) rs200080239
NM_024809.5(TCTN2):c.1165T>G (p.Trp389Gly) rs200080239
NM_024809.5(TCTN2):c.1173_1178del (p.Asn392_Thr393del) rs2541788244
NM_024809.5(TCTN2):c.1190T>A (p.Ile397Lys) rs2135846756
NM_024809.5(TCTN2):c.1264T>A (p.Phe422Ile) rs2541789298
NM_024809.5(TCTN2):c.1286A>T (p.Asn429Ile) rs777826491
NM_024809.5(TCTN2):c.1288GAA[2] (p.Glu432del) rs1956094195
NM_024809.5(TCTN2):c.1312+3A>G rs1381902683
NM_024809.5(TCTN2):c.1366G>A (p.Val456Ile) rs747746554
NM_024809.5(TCTN2):c.1394-10_1394-5del rs754718630
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) rs1272623385
NM_024809.5(TCTN2):c.1447A>C (p.Asn483His) rs2541793620
NM_024809.5(TCTN2):c.1499A>G (p.Gln500Arg) rs866607617
NM_024809.5(TCTN2):c.1505+3G>A rs111574617
NM_024809.5(TCTN2):c.1538T>C (p.Ile513Thr) rs1337915488
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.157A>G (p.Thr53Ala)
NM_024809.5(TCTN2):c.1685C>T (p.Ala562Val) rs2135859426
NM_024809.5(TCTN2):c.1704C>G (p.Ile568Met) rs749519963
NM_024809.5(TCTN2):c.1747G>A (p.Glu583Lys)
NM_024809.5(TCTN2):c.1791G>T (p.Gln597His) rs1956234201
NM_024809.5(TCTN2):c.1810T>C (p.Cys604Arg) rs1047088459
NM_024809.5(TCTN2):c.1812T>G (p.Cys604Trp) rs1593871306
NM_024809.5(TCTN2):c.1847C>A (p.Ser616Tyr) rs1436566157
NM_024809.5(TCTN2):c.1882C>T (p.His628Tyr) rs2135862503
NM_024809.5(TCTN2):c.1896-16_1896-15insACTTGTAGTTTTTG rs2541811220
NM_024809.5(TCTN2):c.1904T>G (p.Ile635Ser) rs2135862767
NM_024809.5(TCTN2):c.191-3T>C
NM_024809.5(TCTN2):c.1928A>G (p.Asn643Ser) rs2541811370
NM_024809.5(TCTN2):c.1943_1944del (p.Cys648fs) rs2135862848
NM_024809.5(TCTN2):c.1958T>C (p.Leu653Pro) rs1956238691
NM_024809.5(TCTN2):c.1958_1963del (p.Leu653_Tyr654del) rs377628976
NM_024809.5(TCTN2):c.1987G>C (p.Glu663Gln) rs756940400
NM_024809.5(TCTN2):c.2001G>C (p.Gln667His) rs1956246296
NM_024809.5(TCTN2):c.200C>G (p.Pro67Arg) rs772417842
NM_024809.5(TCTN2):c.200C>T (p.Pro67Leu) rs772417842
NM_024809.5(TCTN2):c.2029T>G (p.Leu677Val) rs1271806468
NM_024809.5(TCTN2):c.2047T>G (p.Leu683Val) rs2541813229
NM_024809.5(TCTN2):c.2049G>T (p.Leu683Phe) rs975324103
NM_024809.5(TCTN2):c.217G>C (p.Val73Leu) rs1955760079
NM_024809.5(TCTN2):c.225_226delinsTC (p.Asn76His) rs2541747767
NM_024809.5(TCTN2):c.233C>G (p.Thr78Arg) rs1015790415
NM_024809.5(TCTN2):c.235G>A (p.Glu79Lys) rs1400206446
NM_024809.5(TCTN2):c.25C>T (p.Leu9Phe) rs2541745650
NM_024809.5(TCTN2):c.267G>T (p.Ala89=) rs775250997
NM_024809.5(TCTN2):c.269A>G (p.Lys90Arg) rs879080073
NM_024809.5(TCTN2):c.275_276insCAC (p.Leu92delinsPheThr) rs772840076
NM_024809.5(TCTN2):c.347C>A (p.Ser116Tyr) rs368334136
NM_024809.5(TCTN2):c.352T>G (p.Cys118Gly) rs2135816491
NM_024809.5(TCTN2):c.374T>G (p.Val125Gly) rs2541751392
NM_024809.5(TCTN2):c.464-8C>G rs2541760307
NM_024809.5(TCTN2):c.481C>T (p.Pro161Ser) rs1222611018
NM_024809.5(TCTN2):c.485A>G (p.Asn162Ser) rs377494742
NM_024809.5(TCTN2):c.512G>A (p.Cys171Tyr) rs1247122928
NM_024809.5(TCTN2):c.521A>G (p.Asn174Ser) rs749377512
NM_024809.5(TCTN2):c.529G>A (p.Ala177Thr) rs2541760555
NM_024809.5(TCTN2):c.545T>C (p.Val182Ala) rs2541760615
NM_024809.5(TCTN2):c.547C>T (p.Arg183Cys) rs774520912
NM_024809.5(TCTN2):c.577A>G (p.Asn193Asp) rs370944870
NM_024809.5(TCTN2):c.590T>C (p.Leu197Pro) rs2541772622
NM_024809.5(TCTN2):c.649C>G (p.Gln217Glu) rs771349899
NM_024809.5(TCTN2):c.671C>T (p.Thr224Met) rs376996387
NM_024809.5(TCTN2):c.673A>T (p.Thr225Ser) rs2541772916
NM_024809.5(TCTN2):c.697C>T (p.Pro233Ser) rs1156772105
NM_024809.5(TCTN2):c.716C>A (p.Ser239Tyr) rs149186771
NM_024809.5(TCTN2):c.716C>G (p.Ser239Cys) rs149186771
NM_024809.5(TCTN2):c.716C>T (p.Ser239Phe) rs149186771
NM_024809.5(TCTN2):c.758G>T (p.Gly253Val) rs1955979058
NM_024809.5(TCTN2):c.761C>T (p.Ala254Val) rs2541773310
NM_024809.5(TCTN2):c.797A>T (p.Tyr266Phe) rs2541775583
NM_024809.5(TCTN2):c.7T>C (p.Phe3Leu) rs772107062
NM_024809.5(TCTN2):c.802G>T (p.Asp268Tyr) rs2541775593
NM_024809.5(TCTN2):c.806C>G (p.Thr269Ser) rs921760934
NM_024809.5(TCTN2):c.848A>T (p.Asp283Val) rs2135836324
NM_024809.5(TCTN2):c.858G>T (p.Met286Ile) rs371804063
NM_024809.5(TCTN2):c.877T>A (p.Phe293Ile) rs201322440
NM_024809.5(TCTN2):c.891+5T>G rs2135836443
NM_024809.5(TCTN2):c.891+6C>T rs766692860
NM_024809.5(TCTN2):c.902C>T (p.Ala301Val) rs754091453
NM_024809.5(TCTN2):c.922G>A (p.Ala308Thr) rs1232233931
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) rs531586530
NM_024809.5(TCTN2):c.965C>T (p.Thr322Ile) rs2135839958
NM_024809.5(TCTN2):c.97T>C (p.Phe33Leu) rs2541746311

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.