| | LOC129937446, LOC129937447 +1343 more | Copy number gain | See cases | |
| | LOC129937268, LOC129937269 +2645 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126806816, LOC126806817 +484 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129937522, LOC129937523 +9 more | Copy number gain | See cases | |
| | | Single nucleotide variant | Charcot-Marie-Tooth disease type 2B | |
| | | Duplication | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (5 prime UTR variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (5 prime UTR variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (5 prime UTR variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (5 prime UTR variant) | Charcot-Marie-Tooth disease type 2B +1 more | |
| | | Microsatellite (5 prime UTR variant) | Charcot-Marie-Tooth disease type 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | RAB7A-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Duplication | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Deletion (frameshift variant) | Sodium channelopathy-related small fiber neuropathy | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease +4 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2B +2 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2B +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2B +2 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Microsatellite (intron variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2B +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | |