| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Charcot-Marie-Tooth disease axonal type 2P | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
Click to view in NCBI Gene