Links from MedGen
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant +1 more) | Combined oxidative phosphorylation deficiency 56 +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Combined oxidative phosphorylation deficiency 56 +4 more | |
| | | Single nucleotide variant (splice donor variant) | Combined oxidative phosphorylation deficiency 56 +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Combined oxidative phosphorylation deficiency 56 +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | EMG: myopathic abnormalities +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Global brain atrophy +12 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 2 +13 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene