| | | Single nucleotide variant (stop lost) | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | |
| | | Deletion (frameshift variant) | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | |
| | | Microsatellite (frameshift variant) | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | |
| | | Single nucleotide variant (missense variant) | Congenital generalized lipodystrophy type 3 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 3 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Congenital generalized lipodystrophy type 3 +3 more | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 3 +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (nonsense) | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome +1 more | |
| | | Deletion (nonsense) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | |
| | | Single nucleotide variant (nonsense) | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | |