| | | Single nucleotide variant (nonsense +1 more) | Amyotrophic lateral sclerosis, susceptibility to, 24 | |
| | | Single nucleotide variant (nonsense +1 more) | Amyotrophic lateral sclerosis, susceptibility to, 24 | |
| | | Single nucleotide variant (intron variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly +1 more | |
| | | Single nucleotide variant (nonsense +2 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis, susceptibility to, 24 | |
| | | Single nucleotide variant (nonsense +1 more) | Amyotrophic lateral sclerosis, susceptibility to, 24 | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis, susceptibility to, 24 | |
| | | Single nucleotide variant (intron variant) | Amyotrophic lateral sclerosis, susceptibility to, 24 | |
| | | Single nucleotide variant (missense variant +2 more) | Short-rib thoracic dysplasia 6 with or without polydactyly +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (nonsense +1 more) | Amyotrophic lateral sclerosis, susceptibility to, 24 | |
| | | Microsatellite (nonsense +1 more) | Amyotrophic lateral sclerosis, susceptibility to, 24 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Amyotrophic lateral sclerosis, susceptibility to, 24 +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | NEK1-related condition +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | NEK1-related condition +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | NEK1-related condition +4 more | GConflicting classifications of pathogenicity |