| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Hereditary sensory and autonomic neuropathy type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +10 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | Intellectual disability | |
Click to view in NCBI Gene