| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex II deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +4 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (nonsense) | Papule +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
Click to view in NCBI Gene