| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935343, LOC129935344 +1687 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935480, LOC129935481 +1299 more | Copy number gain | See cases | |
| | LOC129935841, LOC129935842 +1148 more | Copy number gain | See cases | |
| | LOC129935871, LOC129935872 +986 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | 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) | not specified | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (synonymous variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (synonymous variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (synonymous variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (synonymous variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (splice donor variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (intron variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (intron variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (intron variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (intron variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Microsatellite (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (intron variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (intron variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (synonymous variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Microsatellite (frameshift variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (nonsense) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (synonymous variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (synonymous variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (splice donor variant) | DNAJB2-related disorder | |
| | | Single nucleotide variant (splice donor variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (intron variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (intron variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (intron variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (intron variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (intron variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Microsatellite (intron variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease +4 more | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Deletion (inframe_deletion) | Neuronopathy, distal hereditary motor, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (nonsense) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (synonymous variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (synonymous variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (splice donor variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (intron variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |