| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Microsatellite (frameshift variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Duplication (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (nonsense +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Microsatellite (inframe_deletion +2 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Deletion (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Deletion (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant +1 more) | NEK1-related condition +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Microsatellite (inframe_deletion +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +2 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Indel (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Deletion (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Deletion (frameshift variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +2 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +2 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Indel (missense variant +2 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Deletion (nonsense +2 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +2 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Deletion (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +2 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Deletion (frameshift variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (splice donor variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (splice donor variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant +2 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | LOC129993365, NEK1 (V826A +5 more) | Single nucleotide variant (missense variant +2 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Indel (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +2 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +2 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (splice acceptor variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Microsatellite (frameshift variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |