| | LOC112533659, LOC112533660 +2032 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Duplication (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Microsatellite (inframe_deletion) | Monogenic diabetes | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (missense variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (missense variant) | CAVIN1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CAVIN1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication (frameshift variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (missense variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Congenital generalized lipodystrophy type 4 | |
| | | Duplication (inframe_insertion) | CAVIN1-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (nonsense) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (synonymous variant) | CAVIN1-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (frameshift variant) | Congenital generalized lipodystrophy type 4 | |
| | | Deletion (frameshift variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (missense variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (nonsense) | Congenital generalized lipodystrophy type 4 | |
| | | Duplication (frameshift variant) | Congenital generalized lipodystrophy type 4 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |