| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | FG syndrome 4 +1 more | |
| | | Indel (splice donor variant) | Hypertonia +4 more | |
| | | Single nucleotide variant (splice acceptor variant) | FG syndrome 4 | |
Click to view in NCBI Gene