Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | PRORP, PRORP-PSMA6 (S28fs +3 more) | Duplication (frameshift variant) | Combined oxidative phosphorylation deficiency 54 +9 more | GPathogenic/Likely pathogenic |
| | PRORP, PRORP-PSMA6 (R445Q +3 more) | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation deficiency 54 +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +14 more | GPathogenic/Likely pathogenic |
| | | Translocation | Polymicrogyria +10 more | |
| | | Single nucleotide variant (missense variant) | Congenital long QT syndrome +22 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene