| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Left ventricular noncompaction +20 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial partial lipodystrophy, Dunnigan type +16 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hutchinson-Gilford syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +18 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant +1 more) | Restrictive dermopathy 2 +1 more | |
Click to view in NCBI Gene