| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4K +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leigh syndrome +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene