ClinVar Miner

Variants from Courtagen Diagnostics Laboratory, Courtagen Life Sciences

Location: United States  Primary collection method: clinical testing
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
42 0 0 0 0 42

Gene and significance breakdown #

Total genes and gene combinations: 34
Download table as spreadsheet
Gene or gene combination pathogenic total
CFTR 3 3
G6PD 3 3
POLG, POLGARF 3 3
BCS1L 2 2
PMM2 2 2
ACADM 1 1
ADGRG1 1 1
ADSL 1 1
ALDH5A1 1 1
ALDH7A1 1 1
ALG13 1 1
ATP1A3 1 1
ATP7B 1 1
BRAF 1 1
BUB1B 1 1
CEP152 1 1
CLCN1 1 1
DARS2 1 1
DHCR7 1 1
GBA1, LOC106627981 1 1
HEXB 1 1
LOC126861242, NDUFV1 1 1
LRRK2 1 1
MAP2K1 1 1
MECP2 1 1
MEF2C 1 1
MOGS 1 1
NPC1 1 1
PEX7 1 1
PPT1 1 1
SCN1B 1 1
SLC2A1 1 1
SLC3A1 1 1
TPP1 1 1

Condition and significance breakdown #

Total conditions: 36
Download table as spreadsheet
Condition pathogenic total
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 3 3
Cystic fibrosis 3 3
PMM2-congenital disorder of glycosylation 2 2
Progressive sclerosing poliodystrophy 2 2
Adenylosuccinate lyase deficiency 1 1
Alternating hemiplegia of childhood 2 1 1
Atrial fibrillation, familial, 13 1 1
Autosomal dominant Parkinson disease 8 1 1
Bilateral frontoparietal polymicrogyria 1 1
Cardiofaciocutaneous syndrome 1 1 1
Cardiofaciocutaneous syndrome 3 1 1
Congenital myotonia, autosomal dominant form 1 1
Cystinuria 1 1
Developmental and epileptic encephalopathy, 36 1 1
Encephalopathy due to GLUT1 deficiency 1 1
GRACILE syndrome 1 1
Gaucher disease type I 1 1
Intellectual disability, autosomal dominant 20 1 1
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 1 1
MOGS-congenital disorder of glycosylation 1 1
Medium-chain acyl-coenzyme A dehydrogenase deficiency 1 1
Microcephaly 9, primary, autosomal recessive 1 1
Mitochondrial complex I deficiency 1 1
Mitochondrial complex III deficiency nuclear type 1 1 1
Mosaic variegated aneuploidy syndrome 1 1 1
Neuronal ceroid lipofuscinosis 1 1 1
Neuronal ceroid lipofuscinosis 2 1 1
Niemann-Pick disease, type C1 1 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 1 1
Pyridoxine-dependent epilepsy 1 1
Rett syndrome 1 1
Rhizomelic chondrodysplasia punctata type 1 1 1
Sandhoff disease 1 1
Smith-Lemli-Opitz syndrome 1 1
Succinate-semialdehyde dehydrogenase deficiency 1 1
Wilson disease 1 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.