| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (nonsense) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (splice donor variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | KIAA0586 (P1043fs +6 more) | Deletion (frameshift variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Insertion (splice donor variant) | Joubert syndrome 23 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 23 +1 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 23 +1 more | |
| | | Deletion (intron variant) | Joubert syndrome 23 +1 more | |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 23 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Joubert syndrome 23 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 23 +1 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 23 +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Duplication (nonsense) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (splice donor variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Deletion (intron variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Deletion (frameshift variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (nonsense) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Deletion (frameshift variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Microsatellite (frameshift variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (splice donor variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Duplication (frameshift variant +1 more) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (splice donor variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Duplication (intron variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Deletion (intron variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 23 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 23 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 23 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 23 +1 more | |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 23 +1 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 23 +1 more | |
| | | Deletion (intron variant) | Joubert syndrome 23 +1 more | |
| | | Duplication (intron variant) | Joubert syndrome 23 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Microsatellite (frameshift variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | KIAA0586 (L1220fs +6 more) | Deletion (frameshift variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Deletion (frameshift variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | KIAA0586-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 23 +1 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 23 +1 more | |