| | | Copy number loss | See cases | |
| | SPDYE12, SPDYE13 +330 more | Copy number loss | See cases | |
| | ABHD11, ABHD11-AS1 +317 more | Copy number loss | See cases | |
| | ABHD11, ABHD11-AS1 +285 more | Copy number gain | See cases | |
| | LOC129998696, LOC129998697 +219 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | Distal 7q11.23 microdeletion syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Duplication | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant | Charcot-Marie-Tooth disease axonal type 2F +1 more | |
| | | Single nucleotide variant | Charcot-Marie-Tooth disease axonal type 2F +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Charcot-Marie-Tooth disease axonal type 2F +2 more | |
| | | Single nucleotide variant | Charcot-Marie-Tooth disease axonal type 2F +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Charcot-Marie-Tooth disease +4 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (5 prime UTR variant) | Neuronopathy, distal hereditary motor, type 2B +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Inversion (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease axonal type 2F +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +6 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2F +4 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neuronopathy, distal hereditary motor, type 2B +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Duplication (nonsense +1 more) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2F +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (synonymous variant) | Neuronopathy, distal hereditary motor, type 2B +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F +5 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Duplication (inframe_insertion) | not provided | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Insertion (frameshift variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, type 2B +2 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2F | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2F | |