Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Hypotonia +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +13 more | |
| | | Single nucleotide variant (missense variant) | not provided +18 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Broad-based gait +4 more | |
Click to view in NCBI Gene