ClinVar Miner

Variants studied for Autosomal dominant epilepsy with auditory features

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
45 12 849 294 69 1 1257

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
RELN 11 6 574 201 50 1 838
LOC101927870, RELN 2 1 140 52 12 0 204
LGI1 30 5 96 34 4 0 164
GAL 1 0 34 7 3 0 45
MICAL1 0 0 2 0 0 0 2
ACTN3, ACY3, AHNAK, AIP, ALDH3B1, ALDH3B2, ANKRD13D, AP5B1, ARL2, ASRGL1, ATG2A, ATL3, B3GAT3, B4GAT1, BAD, BANF1, BATF2, BBS1, BEST1, BRMS1, BSCL2, C11orf24, C11orf68, C11orf80, C11orf86, CABP2, CABP4, CAPN1, CARNS1, CATSPER1, CATSPERZ, CBLIF, CCDC85B, CCDC86, CCDC87, CCDC88B, CCS, CD248, CD5, CD6, CDC42BPG, CDC42EP2, CDCA5, CDK2AP2, CFL1, CHKA, CHRM1, CLCF1, CNIH2, CORO1B, COX8A, CPSF7, CPT1A, CSKMT, CST6, CTSF, CTSW, CYB561A3, DAGLA, DDB1, DNAJC4, DPF2, DPP3, DRAP1, EEF1G, EFEMP2, EHBP1L1, EHD1, EIF1AD, EML3, ESRRA, FADS1, FADS2, FADS3, FAM89B, FAU, FEN1, FERMT3, FIBP, FKBP2, FLRT1, FOSL1, FRMD8, FTH1, GAL, GAL3ST3, GANAB, GNG3, GPHA2, GPR137, GPR152, GRK2, GSTP1, HNRNPUL2, IGHMBP2, INCENP, INTS5, KAT5, KCNK4, KCNK7, KDM2A, KLC2, KMT5B, LBHD1, LGALS12, LRFN4, LRP5, LRRC10B, LRRN4CL, LTBP3, MACROD1, MAJIN, MALAT1, MAP3K11, MAP4K2, MARK2, MEN1, MIR192, MIR194-2, MRPL11, MRPL21, MRPL49, MS4A1, MS4A10, MS4A12, MS4A13, MS4A14, MS4A15, MS4A18, MS4A2, MS4A3, MS4A4A, MS4A4E, MS4A5, MS4A6A, MS4A6E, MS4A7, MS4A8, MTA2, MUS81, MYRF, NAA40, NAALADL1, NDUFS8, NDUFV1, NDUFV1-DT, NEAT1, NPAS4, NRXN2, NUDT22, NUDT8, NXF1, OOSP2, OTUB1, OVOL1, PACS1, PC, PCNX3, PELI3, PGA3, PGA4, PGA5, PITPNM1, PLAAT2, PLAAT3, PLAAT4, PLAAT5, PLCB3, POLA2, POLD4, POLR2G, PPP1CA, PPP1R14B, PPP1R32, PPP2R5B, PPP6R3, PRDX5, PRPF19, PTGDR2, PTPRCAP, PYGM, RAB1B, RAB3IL1, RAD9A, RASGRP2, RBM14, RBM14-RBM4, RBM4, RBM4B, RCE1, RCOR2, RELA, RHOD, RIN1, RNASEH2C, ROM1, RPS6KA4, RPS6KB2, RTN3, SAC3D1, SART1, SCGB1A1, SCGB1D1, SCGB1D2, SCGB1D4, SCGB2A1, SCGB2A2, SCYL1, SDHAF2, SF1, SF3B2, SIPA1, SLC15A3, SLC22A10, SLC22A11, SLC22A12, SLC22A24, SLC22A25, SLC22A6, SLC22A8, SLC22A9, SLC25A45, SLC29A2, SLC3A2, SNHG1, SNORD22, SNORD25, SNORD26, SNORD27, SNORD28, SNORD29, SNORD30, SNORD31, SNX15, SNX32, SPDYC, SPINDOC, SPTBN2, SSH3, STIP1, STX5, SYT12, SYT7, SYVN1, TAF6L, TBC1D10C, TBX10, TCIRG1, TCN1, TESMIN, TIGD3, TKFC, TM7SF2, TMEM109, TMEM132A, TMEM134, TMEM138, TMEM151A, TMEM179B, TMEM216, TMEM223, TMEM258, TRMT112, TRPT1, TSGA10IP, TTC9C, TUT1, UBXN1, UNC93B1, UQCC3, VEGFB, VPS37C, VPS51, VWCE, WDR74, YIF1A, ZBTB3, ZDHHC24, ZFPL1, ZFTA, ZNHIT2, ZNRD2, ZP1 0 0 1 0 0 0 1
CEP55, FFAR4, FRA10AC1, LGI1, MYOF, PDE6C, RBP4 1 0 0 0 0 0 1
GRIN2A 0 0 1 0 0 0 1
TGFBR2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 20 6 810 292 69 0 1197
Fulgent Genetics,Fulgent Genetics 0 0 35 0 0 0 35
Illumina Clinical Services Laboratory,Illumina 0 0 22 2 0 0 24
OMIM 16 0 0 0 0 0 16
GeneReviews 14 0 0 0 0 0 14
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 12 0 0 0 13
Baylor Genetics 0 1 4 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 1 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Institute of Experimental Medicine, Department of Genetics,Istanbul University 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1

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