ClinVar Miner

Variants from Courtagen Diagnostics Laboratory,Courtagen Life Sciences

Location: United States — Primary collection method: clinical testing
Minimum submission review status: Collection method:
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Gene type:
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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
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Gene or gene combination pathogenic total
CFTR 3 3
G6PD 3 3
POLG 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
GBA, LOC106627981 1 1
HEXB 1 1
LRRK2 1 1
MAP2K1 1 1
MECP2 1 1
MEF2C 1 1
MOGS 1 1
NDUFV1 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
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Condition pathogenic total
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 3 3
Cystic fibrosis 3 3
Carbohydrate-deficient glycoprotein syndrome type I 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 progressive external ophthalmoplegia with mitochondrial DNA deletions 1 1 1
Cardiofaciocutaneous syndrome 1 1 1
Cardiofaciocutaneous syndrome 3 1 1
Ceroid lipofuscinosis neuronal 1 1 1
Ceroid lipofuscinosis neuronal 2 1 1
Congenital disorder of glycosylation type 2B 1 1
Congenital myotonia, autosomal dominant form 1 1
Cystinuria 1 1
Epileptic encephalopathy, early infantile, 36 1 1
GLUT1 deficiency syndrome 1 1 1
GRACILE syndrome 1 1
Gaucher's disease, type 1 1 1
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 1 1
Medium-chain acyl-coenzyme A dehydrogenase deficiency 1 1
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 1 1
Mitochondrial complex I deficiency 1 1
Mitochondrial complex III deficiency 1 1
Mosaic variegated aneuploidy syndrome 1 1 1
Niemann-Pick disease type C1 1 1
Parkinson disease 8, autosomal dominant 1 1
Polymicrogyria, bilateral frontoparietal 1 1
Primary autosomal recessive microcephaly 9 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

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