| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
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