| | | Single nucleotide variant (synonymous variant) | Susceptibility to mononeuropathy of the median nerve, mild +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4C +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 +5 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 +1 more | |
| | | Single nucleotide variant (intron variant) | SH3TC2-related disorder +3 more | |
| | | Single nucleotide variant (missense variant) | Susceptibility to mononeuropathy of the median nerve, mild +5 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | SH3TC2-related disorder +3 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 +2 more | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease type 4C +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease +6 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease +5 more | |
| | | Single nucleotide variant (missense variant) | SH3TC2-related disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | SH3TC2-related disorder +4 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 +4 more | |
| | | Single nucleotide variant (missense variant) | SH3TC2-related disorder +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 +5 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 +5 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | SH3TC2-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +6 more | GConflicting classifications of pathogenicity |