ClinVar Miner

List of variants reported as pathogenic for Unverricht-Lundborg syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP
CSTB, 2-BP DEL, 2404TC
NC_000006.11:g.(?_145946811)_(146056654_?)del
NC_000006.11:g.(?_146007238)_(146007452_?)del
NM_000100.3(CSTB):c.-210CCCCGCCCCGCG(2_3)
NM_000100.3(CSTB):c.-210_-199(30_125)
NM_000100.3(CSTB):c.10G>C (p.Gly4Arg) rs74315443
NM_000100.3(CSTB):c.125C>A (p.Ser42Ter) rs386833439
NM_000100.3(CSTB):c.136C>T (p.Gln46Ter) rs545986367
NM_000100.3(CSTB):c.149G>A (p.Gly50Glu) rs312262708
NM_000100.3(CSTB):c.168+2_168+19del rs312262707
NM_000100.3(CSTB):c.168+2_168+21delinsAA rs864309482
NM_000100.3(CSTB):c.168G>A (p.Lys56=) rs386833440
NM_000100.3(CSTB):c.169-2A>G rs386833441
NM_000100.3(CSTB):c.200_203dup (p.Val69fs)
NM_000100.3(CSTB):c.202C>T (p.Arg68Ter) rs74315442
NM_000100.3(CSTB):c.212A>C (p.Gln71Pro) rs121909346
NM_000100.3(CSTB):c.214_215TC[2] (p.Leu73fs) rs796943858
NM_000100.3(CSTB):c.64C>T (p.Gln22Ter) rs1569006250
NM_000100.3(CSTB):c.66G>A (p.Gln22=) rs386833443
NM_000100.3(CSTB):c.67-1G>C rs147484110
NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu) rs765965968
NM_004287.4(GOSR2):c.184A>T (p.Lys62Ter)
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) rs200053119
NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter) rs781291421
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950
NM_153026.3(PRICKLE1):c.1414T>C (p.Tyr472His) rs281865564
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140
NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His) rs281865563

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.