ClinVar Miner

Variants studied for language disorder

Included ClinVar conditions (10):
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
4 2 13 3 18 39

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
AP4E1 1 1 6 1 18 26
TM4SF20 1 0 2 1 0 4
NAGPA 0 0 2 0 0 2
​intergenic 0 0 1 0 0 1
ADCY5 0 0 1 0 0 1
ARMC3 0 0 1 0 0 1
COL4A4 1 0 0 0 0 1
KMT2A 0 0 0 1 0 1
OTUD7A 1 0 0 0 0 1
SIK1 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genome-Nilou Lab 0 0 0 0 18 18
Fulgent Genetics, Fulgent Genetics 0 0 4 1 0 5
OMIM 2 0 2 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 3
New York Genome Center 0 0 2 0 0 2
Baylor Genetics 1 0 0 0 0 1
Institute of Human Genetics, University of Ulm 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 0 0 0 1 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 1

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