| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Distal lower limb muscle weakness +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures +2 more | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria +3 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microcephaly +4 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Microsatellite (inframe_deletion) | Corpus callosum, agenesis of +3 more | |
| | | Single nucleotide variant (missense variant) | Impaired vibration sensation in the lower limbs +6 more | |