ClinVar Miner

List of variants reported as pathogenic for Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967 0.00005
NM_001199107.2(TBC1D24):c.483C>A (p.Cys161Ter) rs745800110 0.00005
NM_001199107.2(TBC1D24):c.58C>T (p.Gln20Ter) rs201257588 0.00005
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965 0.00003
NM_001199107.2(TBC1D24):c.1078C>T (p.Arg360Cys) rs1057519629 0.00002
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val) rs564477999 0.00002
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224 0.00002
NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys) rs398122966 0.00001
NM_001199107.2(TBC1D24):c.1547_1562del (p.Leu516fs) rs2065786997 0.00001
NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu) rs483352866 0.00001
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp) rs748302886 0.00001
NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu) rs756181906 0.00001
NM_001199107.2(TBC1D24):c.706G>A (p.Gly236Ser) rs1183009408 0.00001
NM_001199107.2(TBC1D24):c.725G>A (p.Arg242His) rs199744635 0.00001
NC_000016.10:g.(?_2496129)_(2500978_?)del
NC_000016.9:g.(?_2546150)_(2550959_?)del
NC_000016.9:g.(?_2550259)_(3154076_?)del
NM_001199107.2(TBC1D24):c.1078del (p.Arg360fs)
NM_001199107.2(TBC1D24):c.1131C>G (p.Tyr377Ter) rs1567413218
NM_001199107.2(TBC1D24):c.1141dup (p.Arg381fs) rs1205407936
NM_001199107.2(TBC1D24):c.1153C>T (p.Gln385Ter) rs2065771024
NM_001199107.2(TBC1D24):c.115G>C (p.Ala39Pro) rs770363653
NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val) rs773916549
NM_001199107.2(TBC1D24):c.119G>A (p.Arg40His) rs760474458
NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter) rs1057524191
NM_001199107.2(TBC1D24):c.1306C>T (p.Gln436Ter)
NM_001199107.2(TBC1D24):c.131G>A (p.Trp44Ter) rs1567411053
NM_001199107.2(TBC1D24):c.132G>A (p.Trp44Ter)
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs) rs1292551263
NM_001199107.2(TBC1D24):c.1384G>T (p.Glu462Ter)
NM_001199107.2(TBC1D24):c.1397del (p.Pro466fs) rs2141877166
NM_001199107.2(TBC1D24):c.1402_1409dup (p.Ser472fs)
NM_001199107.2(TBC1D24):c.1488del (p.Met497fs)
NM_001199107.2(TBC1D24):c.1505dup (p.Ser503fs)
NM_001199107.2(TBC1D24):c.1540C>T (p.Gln514Ter) rs746057710
NM_001199107.2(TBC1D24):c.1574del (p.Gly525fs)
NM_001199107.2(TBC1D24):c.1590C>G (p.Cys530Trp) rs1060502501
NM_001199107.2(TBC1D24):c.172del (p.Arg57_Leu58insTer) rs1555501140
NM_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1]) rs761918906
NM_001199107.2(TBC1D24):c.270_286del (p.Pro91fs)
NM_001199107.2(TBC1D24):c.309dup (p.Tyr104fs)
NM_001199107.2(TBC1D24):c.337dup (p.Ala113fs)
NM_001199107.2(TBC1D24):c.439G>C (p.Asp147His) rs267607103
NM_001199107.2(TBC1D24):c.442G>T (p.Glu148Ter) rs763626059
NM_001199107.2(TBC1D24):c.468C>A (p.Cys156Ter) rs397514714
NM_001199107.2(TBC1D24):c.475del (p.Leu159fs) rs796053403
NM_001199107.2(TBC1D24):c.540C>A (p.Cys180Ter)
NM_001199107.2(TBC1D24):c.56del (p.Ile19fs) rs2141870681
NM_001199107.2(TBC1D24):c.636G>A (p.Trp212Ter) rs2141872114
NM_001199107.2(TBC1D24):c.642_793del (p.Trp215fs) rs2141872119
NM_001199107.2(TBC1D24):c.668_669delinsAA (p.Cys223Ter)
NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser) rs397514713
NM_001199107.2(TBC1D24):c.715del (p.Val239fs) rs2141872348
NM_001199107.2(TBC1D24):c.752del (p.Phe251fs) rs766769998
NM_001199107.2(TBC1D24):c.806del (p.Ile269fs) rs2141872499
NM_001199107.2(TBC1D24):c.919A>C (p.Asn307His) rs1555501320
NM_001199107.2(TBC1D24):c.979A>T (p.Lys327Ter) rs2065755770

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.