| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130064626, LOC130064627 +215 more | Duplication | Schizophrenia | |
| | | Copy number loss | See cases | |
| | LIPE, LIPE-AS1 +1 more (G1074A +8 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LIPE, LIPE-AS1 +1 more (V1068fs) | Deletion (frameshift variant) | LIPE-related familial partial lipodystrophy | GPathogenic/Likely pathogenic |
| | LIPE, LIPE-AS1 +1 more (G544E +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (G705D +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (V521G +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LIPE, LIPE-AS1 +1 more (G517E +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (G517A +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (T534R +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (G1058R) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LIPE, LIPE-AS1 +1 more (E1035*) | Single nucleotide variant (nonsense) | LIPE-related familial partial lipodystrophy | |
| | | Single nucleotide variant (synonymous variant) | LIPE-related disorder | |
| | LIPE, LIPE-AS1 +1 more (L1027M +8 more) | Single nucleotide variant (missense variant) | LIPE-related familial partial lipodystrophy | |
| | LIPE, LIPE-AS1 +1 more (R686G +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (V1014M) | Single nucleotide variant (missense variant) | LIPE-related familial partial lipodystrophy +2 more | GConflicting classifications of pathogenicity |
| | LIPE, LIPE-AS1 +1 more (L709V +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | LIPE, LIPE-AS1 +1 more (P705L +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (A626V +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | LIPE-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LIPE, LIPE-AS1 +1 more (P438L +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (P438S +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (S647N +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (P429S +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (N601S +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | LIPE, LIPE-AS1 +1 more (R659C +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (R938S) | Single nucleotide variant (missense variant) | not provided | |
| | LIPE, LIPE-AS1 +1 more (M384I +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (P401R +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (P653S +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (E352G +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (M528V +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (E562K +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (S588L +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE-AS1, LOC101930071 +1 more (S888P) | Single nucleotide variant (missense variant) | LIPE-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LIPE, LIPE-AS1 +1 more (R485H +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | LOC101930071, LIPE +1 more | Single nucleotide variant (intron variant) | not provided | |
| | LIPE, LIPE-AS1 +1 more (S843L +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (R274C +8 more) | Single nucleotide variant (missense variant) | LIPE-related disorder +1 more | |
| | LIPE, LIPE-AS1 +1 more (R517Q +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (R810Q) | Single nucleotide variant (missense variant) | not specified | |
| | LIPE, LIPE-AS1 +1 more (R520W +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (V508L +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (D270H +8 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LIPE, LIPE-AS1 +1 more (L230F +5 more) | Single nucleotide variant (missense variant +1 more) | LIPE-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LIPE, LIPE-AS1 +1 more (M203L +5 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (G742R) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | LIPE, LIPE-AS1 +1 more (A490G +5 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (G438R +5 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | LIPE-AS1, LOC101930071 +1 more | Single nucleotide variant (synonymous variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | LIPE, LIPE-AS1 +1 more (A472V +5 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (R718*) | Single nucleotide variant (nonsense) | LIPE-related familial partial lipodystrophy | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | LIPE-related disorder | |
| | LIPE, LIPE-AS1 +1 more (H255R +6 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (C703W +6 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (L148P +6 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (L232M +6 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (A375V +6 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LIPE, LIPE-AS1 +1 more (G352S +6 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (H361Y +6 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LIPE, LIPE-AS1 +1 more (P345L +6 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (S361G +6 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (R158C +6 more) | Single nucleotide variant (missense variant) | LIPE-related disorder +1 more | |
| | LIPE, LIPE-AS1 +1 more (V302I +6 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (V300I +6 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LIPE, LIPE-AS1 +1 more (R276H +6 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (S18N +6 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LIPE, LIPE-AS1 +1 more (V15M +6 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LIPE, LIPE-AS1 +1 more (A102V +6 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | LIPE-related disorder +1 more | |