| | | Copy number loss | See cases | |
| | LOC129998210, LOC129998211 +1148 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ABCB5, ADCYAP1R1 +387 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | Neuronopathy, distal hereditary motor, type 5A +3 more | |
| | | Single nucleotide variant | Charcot-Marie-Tooth disease type 2D +2 more | |
| | | Single nucleotide variant | Distal spinal muscular atrophy +2 more | |
| | | Single nucleotide variant | Neuronopathy, distal hereditary motor, type 5A +3 more | |
| | | Single nucleotide variant | Distal spinal muscular atrophy +3 more | |
| | | Single nucleotide variant | Distal spinal muscular atrophy +3 more | |
| | | Single nucleotide variant | Neuronopathy, distal hereditary motor, type 5A +2 more | |
| | | Single nucleotide variant | Charcot-Marie-Tooth disease type 2D +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Charcot-Marie-Tooth disease type 2D +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Neuronopathy, distal hereditary motor, type 5A +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Charcot-Marie-Tooth disease type 2D +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Charcot-Marie-Tooth disease type 2D +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Distal spinal muscular atrophy +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Charcot-Marie-Tooth disease type 2D +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Distal spinal muscular atrophy +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Charcot-Marie-Tooth disease type 2D +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Neuronopathy, distal hereditary motor, type 5A +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Charcot-Marie-Tooth disease type 2D +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Neuronopathy, distal hereditary motor, type 5A +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Neuronopathy, distal hereditary motor, type 5A +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +6 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2D | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Indel (missense variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Microsatellite (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Microsatellite (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Microsatellite (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Deletion (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 +2 more | GConflicting classifications of pathogenicity |
| | | Indel (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2D +5 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Deletion (frameshift variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Insertion (frameshift variant +1 more) | Motor neuron disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 +7 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |