ClinVar Miner

Variants studied for Familial sleep-related hypermotor epilepsy

Coded as:
Minimum submission review status: Collection method:
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Gene type:

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
10 6 1084 1070 104 4 2277

Gene and significance breakdown #

Total genes and gene combinations: 19
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHRNA4 2 2 330 393 47 0 774
CHRNA2 0 0 327 286 23 0 636
CHRNB2 3 0 281 230 18 1 532
PRIMA1 4 0 63 78 6 0 151
CHRNA4, LOC126863087 0 0 25 41 4 0 70
CHRNA4, LOC100130587 0 0 26 35 6 0 67
CHRNB2, LOC129931511 0 0 16 7 0 0 23
CHRNA4, KCNQ2 0 0 7 0 0 0 7
GABRG2 0 3 0 0 0 0 3
ABHD16B, ARFRP1, CHRNA4, DNAJC5, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, LIME1, PPDPF, PTK6, RTEL1, SLC2A4RG, SRMS, STMN3, TNFRSF6B, TPD52L2, ZBTB46, ZGPAT 0 0 2 0 0 0 2
CHRNA4, EEF1A2, KCNQ2, PPDPF 0 0 2 0 0 0 2
CRH 0 0 0 0 0 2 2
DEPDC5 1 1 0 0 0 0 2
ABHD16B, ARFRP1, CHRNA4, DNAJC5, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, LIME1, PPDPF, PRPF6, PTK6, RTEL1, SAMD10, SLC2A4RG, SOX18, SRMS, STMN3, TNFRSF6B, TPD52L2, UCKL1, ZBTB46, ZGPAT, ZNF512B 0 0 1 0 0 0 1
ADAR, CHRNB2 0 0 1 0 0 0 1
ARFGAP1, BHLHE23, BIRC7, CHRNA4, COL20A1, COL9A3, DIDO1, EEF1A2, GID8, HAR1A, HAR1B, KCNQ2, NKAIN4, SLC17A9, TCFL5, YTHDF1 0 0 1 0 0 0 1
CCDC25, CHRNA2, CLU, ELP3, EPHX2, ESCO2, EXTL3, FBXO16, FZD3, NUGGC, PBK, PNOC, SCARA3, SCARA5, ZNF395 0 0 1 0 0 0 1
CRH, LOC130000523 0 0 0 0 0 1 1
OPLAH 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 9 2 1083 1070 104 0 2268
GeneReviews 0 0 0 0 0 3 3
Wen Jiang Lab, Comprehensive Epilepsy Center, Xijing Hospital 0 3 0 0 0 0 3
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 1 0 0 0 0 1

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