| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (inframe_deletion) | Charcot-Marie-Tooth disease type 1F | |
| | | Single nucleotide variant (missense variant) | Sensorineural hearing loss disorder +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 1F | |
| | | Single nucleotide variant (missense variant) | not provided +10 more | GPathogenic/Likely pathogenic |
| | | Copy number gain | Intellectual disability, mild +7 more | |
Click to view in NCBI Gene