| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | |
| | | Microsatellite (frameshift variant) | Congenital generalized lipodystrophy type 3 | |
| | | Deletion (frameshift variant) | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | |
| | | Single nucleotide variant (nonsense) | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome +1 more | |
| | | Deletion (frameshift variant) | Pulmonary hypertension, primary, 3 | |
| | | Deletion (frameshift variant) | Pulmonary hypertension, primary, 3 | |
| | | Deletion (nonsense) | Inborn genetic diseases | |
Click to view in NCBI Gene