| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2Z +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2Z +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy +2 more | |
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