| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not specified +5 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Mitochondrial complex 2 deficiency, nuclear type 3 +9 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Carney-Stratakis syndrome +9 more | |
| | | Single nucleotide variant (intron variant) | Paragangliomas with sensorineural hearing loss +8 more | |
Click to view in NCBI Gene