| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Charcot-Marie-Tooth disease axonal type 2Z | |
| | | Single nucleotide variant (missense variant) | Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | MORC2-related neurodevelopmental disorders +6 more | |
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