| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spondylometaphyseal dysplasia, Kozlowski type +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Scapuloperoneal spinal muscular atrophy +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease axonal type 2C +1 more | |
| | | Single nucleotide variant (missense variant) | Scapuloperoneal spinal muscular atrophy +8 more | |