Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Trichothiodystrophy 9, nonphotosensitive +2 more | |
| | | Duplication (inframe_insertion) | Trichothiodystrophy 9, nonphotosensitive | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2U +2 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2U +1 more | |
| | | Single nucleotide variant (nonsense) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +4 more | |
Click to view in NCBI Gene