| | LOC125048431, LOC125048432 +3280 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130056672, LOC130056673 +1071 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | IGHD3-22, IGHD3-3 +670 more | Copy number gain | See cases | |
| | LINC00677, LINC01550 +666 more | Copy number loss | See cases | |
| | LOC130056627, LOC130056628 +653 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130056617, LOC130056618 +571 more | Copy number loss | See cases | |
| | LOC130056492, LOC130056485 +561 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130056499, LOC130056500 +2 more | Deletion | Charcot-Marie-Tooth disease axonal type 2O | |
| | LINC00605, LINC00677 +416 more | Copy number loss | See cases | |
| | | Microsatellite | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant | Charcot-Marie-Tooth disease axonal type 2O +1 more | |
| | | Single nucleotide variant | Autosomal dominant cerebellar ataxia +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal dominant cerebellar ataxia +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Charcot-Marie-Tooth disease axonal type 2O +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal dominant cerebellar ataxia +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +5 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Insertion (inframe_insertion) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Microsatellite (inframe_indel +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 13 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant cerebellar ataxia +5 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Indel (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2O +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 13 +2 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease +2 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease, type I | |
| | | Single nucleotide variant (missense variant) | Distal spinal muscular atrophy | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Deletion (inframe_deletion) | Charcot-Marie-Tooth disease axonal type 2O +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant cerebellar ataxia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_deletion) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2O | |