ClinVar Miner

Variants studied for Complex neurodevelopmental disorder

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 not provided total
90 76 55 12 6 180 398

Gene and significance breakdown #

Total genes and gene combinations: 42
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN2A 40 38 14 0 2 63 137
KCNQ2 0 0 1 0 0 82 83
SCN8A 1 1 1 0 2 33 37
GRIN2B 10 21 3 0 0 0 34
DYRK1A 18 3 0 0 0 0 21
SYNGAP1 11 5 3 0 0 0 19
CHD2 2 2 0 2 0 0 6
ANK2 0 2 2 0 0 1 5
CHAMP1 0 0 1 3 0 0 4
CHD8 0 0 4 0 0 0 4
DPP6 0 0 4 0 0 0 4
GRIN2A 0 0 4 0 0 0 4
SHANK2 2 0 1 1 0 0 4
CNOT3 0 0 0 2 1 0 3
NR4A2 1 1 1 0 0 0 3
EPB41L1 0 0 1 1 0 0 2
SCAF4 1 0 1 0 0 0 2
ZNF292 0 0 2 0 0 0 2
ALDH1B1 0 0 1 0 0 0 1
ANK3 0 0 1 0 0 0 1
AP2M1 0 0 1 0 0 0 1
BRSK2 0 0 1 0 0 0 1
CACNG2 0 0 1 0 0 0 1
CHD1 0 0 0 1 0 0 1
CHD1, LOC126807465 0 0 0 1 0 0 1
CHD2, LOC126862230 1 0 0 0 0 0 1
CLCN3 0 0 1 0 0 0 1
CNTN2 0 1 0 0 0 0 1
CSRNP3, SCN2A, SCN3A 1 0 0 0 0 0 1
CTNND2 0 0 1 0 0 0 1
CUL3 1 0 0 0 0 0 1
HECW2 0 0 0 1 0 0 1
HNRNPU 0 0 1 0 0 0 1
KCNA2 1 0 0 0 0 0 1
KMT2E 0 0 1 0 0 0 1
LSM1 0 0 1 0 0 0 1
MBD5 0 0 0 0 0 1 1
NCKAP1 0 0 1 0 0 0 1
NLGN3 0 0 1 0 0 0 1
NUDT2 0 1 0 0 0 0 1
SHANK1 0 1 0 0 0 0 1
TAF1C 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Channelopathy-Associated Epilepsy Research Center 0 0 0 0 0 178 178
GenomeConnect - Simons Searchlight 82 64 18 0 0 0 164
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 16 12 1 0 30
Molecular Genetics, Royal Melbourne Hospital 1 2 6 0 1 0 10
ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel, Clingen 3 2 1 0 4 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 0 0 0 0 5
Illumina Laboratory Services, Illumina 0 0 5 0 0 0 5
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 3 0 0 0 5
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 1 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
CGC Genetics, Unilabs 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1

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