ClinVar Miner

Variants studied for Idiopathic generalized epilepsy

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
2 6 530 544 64 1144

Gene and significance breakdown #

Total genes and gene combinations: 14
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RBFOX1 0 0 171 165 16 352
GABRD 0 0 146 165 20 331
RBFOX3 0 0 113 148 13 272
CACNB4 0 0 52 26 9 87
LOC126862278, RBFOX1 0 0 20 18 3 41
LOC126862279, RBFOX1 0 0 19 16 3 38
CACNB4, LOC129934925 0 0 5 6 0 11
ADGRV1 1 5 0 0 0 6
ABCB1 0 1 0 0 0 1
ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FNDC10, GABRD, GNB1, INTS11, MIB2, MMP23B, MRPL20, MXRA8, NADK, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, VWA1 0 0 1 0 0 1
ARL5A, CACNB4, NEB 0 0 1 0 0 1
CALML6, CFAP74, FAAP20, GABRD, GNB1, MORN1, PEX10, PRKCZ, RER1, SKI, TMEM52 0 0 1 0 0 1
CASR 0 0 1 0 0 1
KCNIP1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 7
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 527 544 63 1134
Paris Brain Institute, Inserm - ICM 2 5 0 0 0 7
Fulgent Genetics, Fulgent Genetics 0 0 5 0 0 5
Mendelics 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Cell and Molecular Biology Laboratory, University of the Punjab Lahore 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1

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.