ClinVar Miner

List of variants reported as likely pathogenic for Joubert syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
Download table as spreadsheet
HGVS dbSNP
NC_000011.10:g.(?_61393874)_(61398286_?)del
NM_001044385.3(TMEM237):c.62del (p.Pro21fs) rs1574587553
NM_001134831.2(AHI1):c.1151+1G>A
NM_001134831.2(AHI1):c.2106G>A (p.Thr702=) rs1276908141
NM_001134831.2(AHI1):c.2623+1G>A
NM_001134831.2(AHI1):c.2623+2T>A
NM_001134831.2(AHI1):c.749+1G>C
NM_001165927.1(MKS1):c.1359G>T (p.Arg453=) rs773269657
NM_001165927.1(MKS1):c.210G>T (p.Trp70Cys) rs1114167302
NM_001165927.1(MKS1):c.463C>T (p.Arg155Cys) rs779953982
NM_001173990.3(TMEM216):c.137-1G>A rs1554972547
NM_001173990.3(TMEM216):c.137-2A>G
NM_001173990.3(TMEM216):c.230-2A>G
NM_001173990.3(TMEM216):c.34+2T>C rs1057517498
NM_001174150.2(ARL13B):c.393_396del (p.Gln132fs) rs1560002959
NM_001308120.2(TOGARAM1):c.1084C>T (p.Gln362Ter)
NM_001308120.2(TOGARAM1):c.1102C>T (p.Arg368Trp)
NM_001308120.2(TOGARAM1):c.1112C>A (p.Ala371Asp)
NM_001308120.2(TOGARAM1):c.1124T>C (p.Leu375Pro)
NM_001308120.2(TOGARAM1):c.3248C>A (p.Ser1083Ter)
NM_001308120.2(TOGARAM1):c.3931C>T (p.Arg1311Cys)
NM_001308120.2(TOGARAM1):c.5182C>T (p.Arg1728Ter)
NM_001352754.2(ARMC9):c.1027C>A (p.Arg343Ser) rs759799287
NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys) rs759799287
NM_001352754.2(ARMC9):c.1336C>T (p.Arg446Cys) rs753432312
NM_001352754.2(ARMC9):c.1474+1G>C rs1114167448
NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg) rs780265931
NM_001352754.2(ARMC9):c.1559C>T (p.Pro520Leu) rs1114167449
NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg) rs750247691
NM_001352754.2(ARMC9):c.259C>T (p.Arg87Ter) rs372770167
NM_001352754.2(ARMC9):c.51+5G>T rs1114167447
NM_001384732.1(CPLANE1):c.1985dup (p.Leu663fs)
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782
NM_006346.4(PIBF1):c.1669del (p.Leu557fs) rs863225214
NM_015041.3(CLUAP1):c.338T>G (p.Met113Arg) rs768663992
NM_015041.3(CLUAP1):c.688C>T (p.Arg230Ter) rs769705065
NM_015156.4(RCOR1):c.446-3C>T rs754404879
NM_015202.4(KATNIP):c.2674C>T (p.Gln892Ter) rs864309712
NM_015272.5(RPGRIP1L):c.1421del (p.Asn474fs) rs760952407
NM_015272.5(RPGRIP1L):c.230+1G>A rs786204135
NM_015272.5(RPGRIP1L):c.2992del (p.Ile998fs) rs767018622
NM_019892.6(INPP5E):c.1312G>A (p.Asp438Asn)
NM_019892.6(INPP5E):c.1565G>C (p.Gly522Ala) rs771866500
NM_019892.6(INPP5E):c.1922del (p.Cys641fs) rs1431917892
NM_019892.6(INPP5E):c.874C>G (p.Arg292Gly)
NM_023073.3(CPLANE1):c.2278C>T (p.Gln760Ter) rs762334514
NM_023073.3(CPLANE1):c.5738-2A>G rs565629362
NM_025139.6:c.1212_1335del
NM_030578.4(B9D2):c.156_163del (p.Asp53fs) rs786204189
NM_173348.2(FAM149B1):c.356_357del (p.Lys119fs) rs1589150410
Single allele

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.