Links from MedGen
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | LIPE, LIPE-AS1 +1 more (G1071A +8 more) | Single nucleotide variant (missense variant) | LIPE-related familial partial lipodystrophy | |
| | LIPE, LIPE-AS1 +1 more (L1027M +8 more) | Single nucleotide variant (missense variant) | LIPE-related familial partial lipodystrophy | |
| | LIPE, LIPE-AS1 +1 more (R274C +8 more) | Single nucleotide variant (missense variant) | LIPE-related disorder +1 more | |
| | LIPE, LIPE-AS1 +1 more (R718*) | Single nucleotide variant (nonsense) | LIPE-related familial partial lipodystrophy | |
| | | Single nucleotide variant (missense variant) | LIPE-related familial partial lipodystrophy | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LOC101930071, LIPE +1 more (E1035*) | Single nucleotide variant (nonsense) | not provided | |
| | LIPE, LIPE-AS1 +1 more (V1014M) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LIPE, LIPE-AS1 +1 more (S508fs) | Duplication (frameshift variant) | LIPE-related familial partial lipodystrophy | |
| | LIPE, LIPE-AS1 +1 more (V1068fs) | Deletion (frameshift variant) | LIPE-related familial partial lipodystrophy | GPathogenic/Likely pathogenic |
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