| | LOC130058535, LOC130058536 +916 more | Copy number gain | See cases | |
| | LOC130058149, LOC130058150 +925 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | Schizophrenia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease, type I | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Duplication (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease, type I | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease, type I | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Duplication (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease, type I | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Distal spinal muscular atrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Distal spinal muscular atrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease, type I | |
| | | 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 I | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease | |
| | | Duplication | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (synonymous variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Charcot-Marie-Tooth disease type 1C | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (synonymous variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (synonymous variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 1C +1 more | |
| | | Single nucleotide variant (nonsense +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (synonymous variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 1C +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 1C +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (synonymous variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 1C +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 1C +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (synonymous variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 1C | |