| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Charcot-Marie-Tooth disease type 4F | |
| | | Single nucleotide variant (3 prime UTR variant) | Charcot-Marie-Tooth disease type 4F | |
| | | Single nucleotide variant (3 prime UTR variant) | Charcot-Marie-Tooth disease type 4F | |
| | | Single nucleotide variant (3 prime UTR variant) | Charcot-Marie-Tooth disease type 4F | |
| | | Duplication | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Deletion (3 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Dejerine-Sottas disease | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Dejerine-Sottas disease +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4F | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Duplication (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Dejerine-Sottas disease +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +4 more | |
| | | Insertion (inframe_indel +2 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Duplication (frameshift variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Microsatellite (inframe_insertion +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Microsatellite (inframe_indel +2 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +2 more | |
| | | Deletion (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +2 more | |