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
Condition and significance breakdown #
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
|
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