Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Spastic paraplegia 70, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +2 more | |
| | | Single nucleotide variant (missense variant) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more | |
Click to view in NCBI Gene