| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant +1 more) | Charcot-Marie-Tooth disease type 4 +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene