ClinVar Miner

Variants studied for benign adult familial myoclonic epilepsy

Included ClinVar conditions (5):
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 not provided total
30 9 346 349 39 1 763

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CNTN2 20 9 305 322 29 0 675
CNTN2, LOC126805985 2 0 25 26 4 0 57
YEATS2 1 0 3 1 6 0 11
SAMD12 3 0 2 0 0 0 5
STARD7 2 0 3 0 0 0 5
ADRA2B 0 0 4 0 0 1 4
MARCHF6 2 0 2 0 0 0 4
ADIPOR1, ADORA1, ARL8A, ASCL5, ATP2B4, AVPR1B, BTG2, CACNA1S, CAMSAP2, CDK18, CHI3L1, CHIT1, CNTN2, CSRP1, CTSE, CYB5R1, DDX59, DSTYK, DYRK3, EIF2D, ELF3, ELK4, ETNK2, FAM72A, FMOD, GOLT1A, GPR25, GPR37L1, IGFN1, IKBKE, IL10, INAVA, IPO9, KDM5B, KIF14, KIF21B, KISS1, KLHDC8A, KLHL12, LAD1, LAX1, LEMD1, LGR6, LMOD1, LRRN2, MAPKAPK2, MDM4, MFSD4A, MYBPH, MYOG, NAV1, NFASC, NUAK2, NUCKS1, OPTC, PCAT6, PHLDA3, PIK3C2B, PKP1, PLEKHA6, PM20D1, PPFIA4, PPP1R12B, PPP1R15B, PRELP, PTPN7, RAB29, RABIF, RASSF5, RBBP5, REN, RHEX, RNPEP, SHISA4, SLC26A9, SLC41A1, SLC45A3, SNRPE, SOX13, SRGAP2, SYT2, TIMM17A, TMCC2, TMEM183A, TMEM81, TMEM9, TNNI1, TNNT2, UBE2T, ZBED6, ZC3H11A 0 0 1 0 0 0 1
LOC129934328, STARD7 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 18 8 319 346 32 0 723
New York Genome Center 0 0 10 0 0 0 10
Fulgent Genetics, Fulgent Genetics 0 0 4 4 1 0 9
Genome-Nilou Lab 0 0 0 0 9 0 9
OMIM 7 0 1 0 0 0 8
Baylor Genetics 0 0 6 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
Revvity Omics, Revvity 0 0 3 0 0 0 3
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 2
Mendelics 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Neurogenetics Research Program, University of Adelaide 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute for Human Genetics, University Hospital Essen 1 0 0 0 0 0 1
The Walter and Eliza Hall Institute of Medical Research 1 0 0 0 0 0 1
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital 1 0 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Rare Genetic Disease Lab, Dept of Zoology, Government Postgraduate College Dargai Malakand, Higher Education Govt. of Khyber Pakhtunkhwa 1 0 0 0 0 0 1

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