ClinVar Miner

List of variants reported as uncertain significance for Jeune thoracic dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 241
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HGVS dbSNP
NC_000011.10:g.(?_103282179)_(103282229_?)del
NC_000011.10:g.(?_103479075)_(103479273_?)dup
NM_001080463.1(DYNC2H1):c.[11284A>G;5971A>T]
NM_001080463.1(DYNC2H1):c.[12602C>T;9865G>A]
NM_001199397.2(NEK1):c.1122A>C (p.Glu374Asp) rs992324423
NM_001318493.2(IFT88):c.2114G>C (p.Arg705Pro) rs373832683
NM_001377.3(DYNC2H1):c.*211A>G rs148091830
NM_001377.3(DYNC2H1):c.-33C>T rs547159267
NM_001377.3(DYNC2H1):c.1000-7A>G rs745325616
NM_001377.3(DYNC2H1):c.10001C>G (p.Pro3334Arg) rs1565426918
NM_001377.3(DYNC2H1):c.10043-7T>A rs376067770
NM_001377.3(DYNC2H1):c.10152T>G (p.Ala3384=) rs886047574
NM_001377.3(DYNC2H1):c.10164T>A (p.Thr3388=)
NM_001377.3(DYNC2H1):c.10199G>A (p.Arg3400Gln) rs775615484
NM_001377.3(DYNC2H1):c.10206+6C>T rs1591478542
NM_001377.3(DYNC2H1):c.10237C>G (p.Pro3413Ala) rs786204223
NM_001377.3(DYNC2H1):c.10326+6A>G rs750262824
NM_001377.3(DYNC2H1):c.10433C>A (p.Ser3478Tyr)
NM_001377.3(DYNC2H1):c.10466G>T (p.Arg3489Leu) rs755858936
NM_001377.3(DYNC2H1):c.10648T>C (p.Ser3550Pro) rs200460601
NM_001377.3(DYNC2H1):c.1069T>C (p.Cys357Arg)
NM_001377.3(DYNC2H1):c.10848T>G (p.Ser3616=) rs199958495
NM_001377.3(DYNC2H1):c.10946G>A (p.Arg3649His) rs753691638
NM_001377.3(DYNC2H1):c.10975C>G (p.Gln3659Glu) rs200340319
NM_001377.3(DYNC2H1):c.11383-5A>G
NM_001377.3(DYNC2H1):c.11493G>A (p.Glu3831=) rs778529441
NM_001377.3(DYNC2H1):c.1151C>T (p.Ala384Val) rs369614706
NM_001377.3(DYNC2H1):c.11679A>C (p.Leu3893Phe) rs748607783
NM_001377.3(DYNC2H1):c.11703C>T (p.Asn3901=) rs144624858
NM_001377.3(DYNC2H1):c.11726G>A (p.Gly3909Asp) rs201479015
NM_001377.3(DYNC2H1):c.11745G>T (p.Trp3915Cys) rs549891589
NM_001377.3(DYNC2H1):c.11929A>C (p.Ile3977Leu) rs757571550
NM_001377.3(DYNC2H1):c.11942G>A (p.Arg3981His) rs755554260
NM_001377.3(DYNC2H1):c.12131T>C (p.Leu4044Pro)
NM_001377.3(DYNC2H1):c.12172_12180del (p.His4058_Lys4060del) rs1591686031
NM_001377.3(DYNC2H1):c.12254G>A (p.Arg4085His) rs115480556
NM_001377.3(DYNC2H1):c.12316T>G (p.Leu4106Val) rs139902197
NM_001377.3(DYNC2H1):c.12366+8A>G rs200404815
NM_001377.3(DYNC2H1):c.12389A>G (p.Lys4130Arg) rs368043505
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg) rs761765709
NM_001377.3(DYNC2H1):c.12439C>T (p.Arg4147Cys) rs755441612
NM_001377.3(DYNC2H1):c.12484G>T (p.Ala4162Ser)
NM_001377.3(DYNC2H1):c.12551G>A (p.Arg4184His) rs200913028
NM_001377.3(DYNC2H1):c.12556G>A (p.Glu4186Lys) rs764491760
NM_001377.3(DYNC2H1):c.1263C>A (p.Phe421Leu) rs142881106
NM_001377.3(DYNC2H1):c.12766-7dup rs747006567
NM_001377.3(DYNC2H1):c.12776G>T (p.Gly4259Val) rs368203507
NM_001377.3(DYNC2H1):c.12817A>C (p.Thr4273Pro) rs374409204
NM_001377.3(DYNC2H1):c.12865G>C (p.Gly4289Arg) rs144717489
NM_001377.3(DYNC2H1):c.1631C>T (p.Ser544Leu)
NM_001377.3(DYNC2H1):c.1679G>T (p.Arg560Leu)
NM_001377.3(DYNC2H1):c.1774C>T (p.Leu592Phe) rs180861816
NM_001377.3(DYNC2H1):c.195+5G>A rs774148120
NM_001377.3(DYNC2H1):c.196-13T>C rs765533229
NM_001377.3(DYNC2H1):c.1966G>A (p.Gly656Arg) rs369040584
NM_001377.3(DYNC2H1):c.2005A>G (p.Lys669Glu) rs189533535
NM_001377.3(DYNC2H1):c.2106+5A>G rs886047560
NM_001377.3(DYNC2H1):c.2142G>C (p.Gln714His) rs182352825
NM_001377.3(DYNC2H1):c.2244C>T (p.His748=) rs373707570
NM_001377.3(DYNC2H1):c.2385C>G (p.Ile795Met) rs780228819
NM_001377.3(DYNC2H1):c.2470A>G (p.Ile824Val) rs758399640
NM_001377.3(DYNC2H1):c.2479A>G (p.Ile827Val) rs201224700
NM_001377.3(DYNC2H1):c.2533G>C (p.Asp845His) rs879676957
NM_001377.3(DYNC2H1):c.254T>A (p.Val85Glu) rs775389478
NM_001377.3(DYNC2H1):c.2550G>A (p.Leu850=) rs375307767
NM_001377.3(DYNC2H1):c.266A>G (p.Glu89Gly) rs886047558
NM_001377.3(DYNC2H1):c.291T>A (p.Val97=) rs377529350
NM_001377.3(DYNC2H1):c.2920A>G (p.Ser974Gly)
NM_001377.3(DYNC2H1):c.2922T>C (p.Ser974=) rs761013187
NM_001377.3(DYNC2H1):c.2del (p.Met1fs)
NM_001377.3(DYNC2H1):c.3012T>C (p.Gly1004=) rs202082545
NM_001377.3(DYNC2H1):c.3170G>A (p.Arg1057His) rs191381310
NM_001377.3(DYNC2H1):c.3337A>G (p.Asn1113Asp)
NM_001377.3(DYNC2H1):c.3419G>T (p.Gly1140Val) rs201043335
NM_001377.3(DYNC2H1):c.366+10G>A rs200257097
NM_001377.3(DYNC2H1):c.3665G>A (p.Gly1222Glu) rs201194631
NM_001377.3(DYNC2H1):c.3794G>T (p.Arg1265Leu)
NM_001377.3(DYNC2H1):c.391G>C (p.Asp131His) rs759690887
NM_001377.3(DYNC2H1):c.3995T>G (p.Leu1332Arg) rs786204078
NM_001377.3(DYNC2H1):c.4020G>T (p.Gln1340His)
NM_001377.3(DYNC2H1):c.4611+14C>T rs766124250
NM_001377.3(DYNC2H1):c.466T>A (p.Leu156Ile) rs765931519
NM_001377.3(DYNC2H1):c.4916C>A (p.Thr1639Lys) rs200239560
NM_001377.3(DYNC2H1):c.4918T>C (p.Cys1640Arg) rs768540376
NM_001377.3(DYNC2H1):c.4959T>C (p.Tyr1653=) rs201863754
NM_001377.3(DYNC2H1):c.5114T>C (p.Leu1705Pro) rs878854166
NM_001377.3(DYNC2H1):c.5152-3A>C rs372549709
NM_001377.3(DYNC2H1):c.5177G>A (p.Arg1726Gln) rs564701277
NM_001377.3(DYNC2H1):c.5212G>A (p.Gly1738Ser) rs370669724
NM_001377.3(DYNC2H1):c.5335-14A>G rs372488002
NM_001377.3(DYNC2H1):c.5399G>A (p.Gly1800Glu) rs1555056136
NM_001377.3(DYNC2H1):c.5472T>C (p.Leu1824=) rs886047564
NM_001377.3(DYNC2H1):c.5473A>G (p.Ile1825Val) rs201860217
NM_001377.3(DYNC2H1):c.5486T>C (p.Ile1829Thr)
NM_001377.3(DYNC2H1):c.5511C>T (p.Asp1837=) rs201953670
NM_001377.3(DYNC2H1):c.5512G>A (p.Ala1838Thr) rs777912444
NM_001377.3(DYNC2H1):c.5642G>A (p.Arg1881Lys) rs199541807
NM_001377.3(DYNC2H1):c.5681A>G (p.Glu1894Gly)
NM_001377.3(DYNC2H1):c.5690T>C (p.Ile1897Thr)
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile) rs150887098
NM_001377.3(DYNC2H1):c.5771A>T (p.Asp1924Val) rs1565368733
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe) rs185504536
NM_001377.3(DYNC2H1):c.5821G>C (p.Ala1941Pro) rs368058473
NM_001377.3(DYNC2H1):c.5984C>T (p.Ala1995Val) rs963717773
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291
NM_001377.3(DYNC2H1):c.6051A>G (p.Gln2017=) rs1261404836
NM_001377.3(DYNC2H1):c.6139+7C>T rs200749262
NM_001377.3(DYNC2H1):c.624_625delinsAA (p.Phe209Ile) rs431905498
NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr) rs201003494
NM_001377.3(DYNC2H1):c.658G>T (p.Val220Phe) rs1565311011
NM_001377.3(DYNC2H1):c.6613C>T (p.Arg2205Cys) rs750689118
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031
NM_001377.3(DYNC2H1):c.6667T>A (p.Phe2223Ile)
NM_001377.3(DYNC2H1):c.6694G>C (p.Asp2232His) rs1555061008
NM_001377.3(DYNC2H1):c.6697T>C (p.Ser2233Pro) rs375988913
NM_001377.3(DYNC2H1):c.6769G>A (p.Gly2257Ser)
NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr) rs747348765
NM_001377.3(DYNC2H1):c.6931A>G (p.Thr2311Ala) rs760509494
NM_001377.3(DYNC2H1):c.7030C>T (p.Arg2344Cys) rs547419104
NM_001377.3(DYNC2H1):c.7032T>A (p.Arg2344=) rs760382908
NM_001377.3(DYNC2H1):c.7129T>G (p.Phe2377Val) rs1565379048
NM_001377.3(DYNC2H1):c.7409C>G (p.Ala2470Gly) rs1555062849
NM_001377.3(DYNC2H1):c.7492A>G (p.Ile2498Val)
NM_001377.3(DYNC2H1):c.7495C>G (p.Leu2499Val) rs878854167
NM_001377.3(DYNC2H1):c.7597C>T (p.Arg2533Cys) rs754889986
NM_001377.3(DYNC2H1):c.7607G>A (p.Arg2536His) rs376790555
NM_001377.3(DYNC2H1):c.7782A>G (p.Pro2594=) rs886047566
NM_001377.3(DYNC2H1):c.7840-6dup rs886047567
NM_001377.3(DYNC2H1):c.7919T>C (p.Ile2640Thr) rs1265669915
NM_001377.3(DYNC2H1):c.8003T>G (p.Val2668Gly) rs764468030
NM_001377.3(DYNC2H1):c.8102C>T (p.Ala2701Val) rs765998830
NM_001377.3(DYNC2H1):c.8107A>T (p.Ile2703Phe)
NM_001377.3(DYNC2H1):c.8293T>G (p.Phe2765Val) rs199503535
NM_001377.3(DYNC2H1):c.8311+10A>G rs376842066
NM_001377.3(DYNC2H1):c.8351C>T (p.Ser2784Phe) rs886047568
NM_001377.3(DYNC2H1):c.8444G>A (p.Ser2815Asn) rs1565394254
NM_001377.3(DYNC2H1):c.8457A>G (p.Ile2819Met) rs1060501431
NM_001377.3(DYNC2H1):c.8473A>G (p.Ser2825Gly) rs886047569
NM_001377.3(DYNC2H1):c.8585G>A (p.Cys2862Tyr)
NM_001377.3(DYNC2H1):c.8780C>T (p.Thr2927Met) rs752196931
NM_001377.3(DYNC2H1):c.8822T>G (p.Val2941Gly)
NM_001377.3(DYNC2H1):c.8833-3T>C rs551227065
NM_001377.3(DYNC2H1):c.8946+10A>C rs550521675
NM_001377.3(DYNC2H1):c.8989C>T (p.Pro2997Ser) rs762604608
NM_001377.3(DYNC2H1):c.9217T>C (p.Ser3073Pro) rs199970220
NM_001377.3(DYNC2H1):c.9231+12G>A rs369045696
NM_001377.3(DYNC2H1):c.9577A>G (p.Ile3193Val) rs886047571
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg) rs140830294
NM_001377.3(DYNC2H1):c.9846T>C (p.Asp3282=) rs886047572
NM_001377.3(DYNC2H1):c.9865G>C (p.Glu3289Gln) rs200326353
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=) rs192003811
NM_015531.6(C2CD3):c.5227G>T (p.Gly1743Cys) rs1064793399
NM_015531.6(C2CD3):c.5267G>A (p.Gly1756Glu) rs150291837
NM_015681.5(B9D1):c.467G>C (p.Arg156Pro) rs886038205
NM_015693.4(INTU):c.1288C>T (p.Arg430Cys) rs1227833863
NM_015693.4(INTU):c.1628G>A (p.Arg543His) rs34027211
NM_016004.5(IFT52):c.931G>A (p.Glu311Lys) rs145672738
NM_020800.2(IFT80):c.-183C>T rs545378240
NM_020800.2(IFT80):c.-243G>A rs559709322
NM_020800.2(IFT80):c.-296G>A rs886058136
NM_020800.2(IFT80):c.-321A>G rs886058137
NM_020800.2(IFT80):c.-376G>C rs886058138
NM_020800.2(IFT80):c.-392T>G rs886058139
NM_020800.2(IFT80):c.-410G>T rs113776466
NM_020800.3(IFT80):c.*1210_*1211TA[8] rs150435844
NM_020800.3(IFT80):c.-31G>A rs886058135
NM_020800.3(IFT80):c.1052C>T (p.Thr351Met)
NM_020800.3(IFT80):c.1079C>T (p.Thr360Met)
NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala) rs140202230
NM_020800.3(IFT80):c.1126G>A (p.Val376Ile) rs753617262
NM_020800.3(IFT80):c.1126G>C (p.Val376Leu) rs753617262
NM_020800.3(IFT80):c.1158T>A (p.Phe386Leu)
NM_020800.3(IFT80):c.1208T>G (p.Phe403Cys)
NM_020800.3(IFT80):c.1288G>A (p.Ala430Thr)
NM_020800.3(IFT80):c.1316T>G (p.Ile439Arg)
NM_020800.3(IFT80):c.1342G>A (p.Gly448Arg)
NM_020800.3(IFT80):c.1343G>T (p.Gly448Val)
NM_020800.3(IFT80):c.1376A>G (p.His459Arg)
NM_020800.3(IFT80):c.1381-6T>A
NM_020800.3(IFT80):c.1413A>C (p.Lys471Asn)
NM_020800.3(IFT80):c.1495G>A (p.Glu499Lys)
NM_020800.3(IFT80):c.1546G>A (p.Asp516Asn)
NM_020800.3(IFT80):c.1753A>T (p.Ile585Leu) rs864622337
NM_020800.3(IFT80):c.1771A>G (p.Ile591Val) rs142518115
NM_020800.3(IFT80):c.1836+5T>C
NM_020800.3(IFT80):c.1883G>A (p.Arg628Gln) rs150370681
NM_020800.3(IFT80):c.1910A>G (p.Tyr637Cys)
NM_020800.3(IFT80):c.1954A>G (p.Ile652Val) rs779103873
NM_020800.3(IFT80):c.2100G>C (p.Arg700Ser)
NM_020800.3(IFT80):c.2116G>A (p.Val706Ile)
NM_020800.3(IFT80):c.2149G>A (p.Ala717Thr) rs370294182
NM_020800.3(IFT80):c.2179G>A (p.Gly727Ser) rs977361551
NM_020800.3(IFT80):c.2200C>T (p.Arg734Ter) rs375941259
NM_020800.3(IFT80):c.2223+4_2223+7del rs751433239
NM_020800.3(IFT80):c.2224-19dup rs58665245
NM_020800.3(IFT80):c.2225T>A (p.Leu742His)
NM_020800.3(IFT80):c.2245A>G (p.Ile749Val)
NM_020800.3(IFT80):c.239_250delinsGGGTTT (p.Phe80_Ser84delinsTrpValCys)
NM_020800.3(IFT80):c.266T>C (p.Phe89Ser)
NM_020800.3(IFT80):c.332C>T (p.Ala111Val)
NM_020800.3(IFT80):c.335G>A (p.Gly112Glu)
NM_020800.3(IFT80):c.371T>C (p.Val124Ala)
NM_020800.3(IFT80):c.511A>G (p.Ile171Val)
NM_020800.3(IFT80):c.571A>G (p.Ile191Val)
NM_020800.3(IFT80):c.599A>G (p.Asn200Ser)
NM_020800.3(IFT80):c.640G>A (p.Val214Ile)
NM_020800.3(IFT80):c.658C>T (p.Arg220Cys)
NM_020800.3(IFT80):c.698C>A (p.Thr233Asn)
NM_020800.3(IFT80):c.707C>T (p.Ala236Val) rs774857269
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) rs138004478
NM_020800.3(IFT80):c.758G>A (p.Arg253His)
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser) rs138081429
NM_020800.3(IFT80):c.895G>A (p.Val299Met)
NM_020800.3(IFT80):c.938C>T (p.Thr313Met) rs753478409
NM_020800.3(IFT80):c.952A>T (p.Met318Leu)
NM_020800.3(IFT80):c.956A>G (p.Gln319Arg)
NM_024753.4(TTC21B):c.-107C>T rs545898884
NM_024753.4(TTC21B):c.-75A>C rs886055032
NM_024753.4(TTC21B):c.-82C>G rs543599575
NM_024753.4(TTC21B):c.-89C>G rs868157832
NM_024753.4(TTC21B):c.-91T>C rs772121352
NM_024753.4(TTC21B):c.-94C>T rs563836188
NM_024753.5(TTC21B):c.*1123dup rs886055020
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp) rs140757802
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln) rs574017249
NM_024753.5(TTC21B):c.95G>A (p.Arg32Lys) rs886055028
NM_025103.4(IFT74):c.1054G>T (p.Gly352Cys) rs759662469
NM_025129.5(FUZ):c.851G>T (p.Arg284Leu) rs368721486
NM_025132.3(WDR19):c.-59dupT rs558898928
NM_025132.4(WDR19):c.*293_*296dup rs374474677
NM_025132.4(WDR19):c.1134+13T>G rs374615138
NM_025132.4(WDR19):c.1248T>C (p.Asn416=) rs772867899
NM_025132.4(WDR19):c.1249+9A>G rs201377206
NM_025132.4(WDR19):c.2364-15_2364-14del rs555557314
NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser) rs545916111
NM_025132.4(WDR19):c.3758G>A (p.Cys1253Tyr) rs750716949
NM_025132.4(WDR19):c.56T>G (p.Phe19Cys) rs1247231925
NM_025132.4(WDR19):c.974T>C (p.Leu325Ser) rs1193255568
NM_052873.3(IFT43):c.73C>T (p.Arg25Ter) rs780404339
NM_052873.3(IFT43):c.8A>G (p.Asp3Gly) rs144776609
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn) rs180747811

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