| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | TMEM70-related disorder +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | |
Click to view in NCBI Gene