| | | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A +3 more | |
| | GDAP1, LOC130000622 (K39R) | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Charcot-Marie-Tooth disease type 4A +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 4A +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 4A +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease axonal type 2K +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +6 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Elevated circulating creatine kinase concentration +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | GDAP1-related disorder +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease axonal type 2K +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease recessive intermediate A +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 4A +1 more | |