Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Feeding difficulties +20 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 30 +22 more | |
| | | Single nucleotide variant (missense variant +1 more) | Feeding difficulties +19 more | |
Click to view in NCBI Gene