| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Familial partial lipodystrophy, Dunnigan type | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +17 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Familial partial lipodystrophy, Dunnigan type | |
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