ClinVar Miner

List of variants reported as likely pathogenic for Seizures; Intellectual disability

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_000308.4(CTSA):c.445-18_447del
NM_001146312.2(MYOCD):c.1252A>G (p.Ile418Val) rs137939966
NM_001271.4(CHD2):c.4560del (p.Ser1521fs)
NM_001277269.1(OTOG):c.2500C>T (p.Gln834Ter) rs554847663
NM_001278512.2(AP3B2):c.66C>G (p.Tyr22Ter)
NM_001324418.2(ADAM22):c.1981dup (p.Met661fs)
NM_001330260.2(SCN8A):c.1258G>C (p.Ala420Pro) rs1592392873
NM_001330260.2(SCN8A):c.4501C>T (p.Gln1501Ter) rs1057520149
NM_002693.2(POLG):c.2246T>C (p.Phe749Ser) rs202037973
NM_003042.4(SLC6A1):c.1000G>A (p.Ala334Thr) rs749240316
NM_003165.4(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_004577.4(PSPH):c.301C>T (p.Arg101Ter)
NM_004980.4(KCND3):c.1076G>T (p.Trp359Leu) rs1571939623
NM_006180.6(NTRK2):c.1279G>T (p.Gly427Cys)
NM_014822.4(SEC24D):c.697G>C (p.Gly233Arg) rs730882211
NM_020806.5(GPHN):c.1293+2T>G
Single allele
t(X;7)(p10;q21.11)

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.