ClinVar Miner

Variants studied for corpus callosum, agenesis of

Included ClinVar conditions (32):
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
30 15 8 0 0 52

Gene and significance breakdown #

Total genes and gene combinations: 32
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CDH2 9 1 0 9
DCC 9 0 0 9
TUBA1A 2 1 0 3
​intergenic 1 0 1 2
ARID1B 1 1 0 2
ADNP 0 1 0 1
ADSS2, AHCTF1, AKT3, C1orf100, CATSPERE, CEP170, CHML, CNST, COX20, DESI2, EFCAB2, EXO1, FH, FMN2, GREM2, HNRNPU, KIF26B, KMO, LINC02897, MAP1LC3C, OPN3, PLD5, RGS7, SCCPDH, SDCCAG8, SMYD3, TFB2M, WDR64, ZBTB18, ZNF124, ZNF669, ZNF670, ZNF695 1 0 0 1
ARID1B, CLDN20, NOX3, SNX9, TFB1M, TIAM2, TMEM242, ZDHHC14 1 0 0 1
ARMC9 0 0 1 1
ARX 0 1 0 1
AUTS2 0 1 0 1
BCL11A 1 0 0 1
BCOR 0 0 1 1
BORCS5 0 1 0 1
C2CD3, LOC121392929 0 0 1 1
CDK5RAP2 0 1 0 1
COL4A1 0 1 0 1
CREBBP 1 0 0 1
CSRNP3, GALNT3, SCN2A, SCN3A 1 0 0 1
DHX16 0 1 0 1
DYNC1H1 0 0 1 1
EP300 0 0 1 1
ERCC2 1 0 0 1
FZD3 0 1 0 1
KIF4A 0 1 0 1
MED12 1 0 0 1
MID1 0 0 1 1
PIK3CA 0 0 1 1
SETD2 1 0 0 1
SLC12A6 0 1 0 1
TMLHE 0 1 0 1
YARS1 0 1 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance total
Neurogenetics Research; Murdoch Childrens Research Institute 9 0 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 2 5 9
Core Molecular Diagnostic Lab, McGill University Health Centre 9 0 0 9
Dobyns Lab,Seattle Children's Research Institute 3 5 0 8
Medical Genetics Laboratory,CHRU Nancy 5 0 0 5
Genetics Institute, Tel Aviv Sourasky Medical Center 1 3 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 2
Dr. Guy Rouleau's laboratory,McGill University 0 1 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 1
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 0 1 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 1

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