| | LOC130059149, LOC130059150 +1738 more | Copy number gain | See cases | |
| | LOC130059330, LOC130059331 +599 more | Copy number gain | See cases | |
| | LOC130059197, LOC130059198 +575 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130059618, LOC130059619 +1429 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130059185, LOC130059186 +869 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Charcot-Marie-Tooth disease axonal type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Charcot-Marie-Tooth disease axonal type 2N +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Charcot-Marie-Tooth disease axonal type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Charcot-Marie-Tooth disease axonal type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Charcot-Marie-Tooth disease axonal type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Charcot-Marie-Tooth disease axonal type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Charcot-Marie-Tooth disease axonal type 2N | |
| | | Duplication | Charcot-Marie-Tooth disease type 2 | |
| | | Duplication | Charcot-Marie-Tooth disease type 2 | |
| | | Duplication | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (stop lost) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 29 | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2N +2 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease axonal type 2N +2 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Duplication (splice acceptor variant) | Inborn genetic diseases +2 more | |
| | | Deletion (nonsense) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 29 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | AARS1-related disorder +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Deletion (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |