| | | Copy number loss | See cases | |
| | LOC129995052, LOC129995053 +1157 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129994934, LOC129994935 +313 more | Copy number gain | See cases | |
| | C5orf46, CTB-99A3.1 +82 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (synonymous variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (synonymous variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (synonymous variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (synonymous variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (intron variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (intron variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (intron variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (synonymous variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, type 2D | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (synonymous variant) | Distal hereditary motor neuropathy type 2 | |
| | | Deletion (inframe_deletion) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (synonymous variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (synonymous variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (intron variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (intron variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (synonymous variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (synonymous variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (nonsense) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (synonymous variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (synonymous variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (synonymous variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (synonymous variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (synonymous variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (synonymous variant) | Distal hereditary motor neuropathy type 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Distal hereditary motor neuropathy type 2 | |
| | | Duplication (frameshift variant +1 more) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (nonsense) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (synonymous variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (synonymous variant) | FBXO38-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Distal hereditary motor neuropathy type 2 | |