| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (splice donor variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | GARS1-related neuropathies +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +1 more | |
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