Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Primordial dwarfism-immunodeficiency-lipodystrophy syndrome +1 more | |
| | | Single nucleotide variant (splice donor variant) | Primordial dwarfism-immunodeficiency-lipodystrophy syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Primordial dwarfism-immunodeficiency-lipodystrophy syndrome +1 more | |
Click to view in NCBI Gene