| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (intron variant) | Charcot-Marie-Tooth disease axonal type 2L | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
Click to view in NCBI Gene