| | LOC129933186, WDR35 (M865I +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Cranioectodermal dysplasia 2 | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 7 with or without polydactyly +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LOC129933186, WDR35 (Q853H +1 more) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 7 with or without polydactyly +1 more | |
| | LOC129933186, WDR35 (I862V +1 more) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 7 with or without polydactyly +1 more | |
| | LOC129933186, WDR35 (A852V +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129933186, WDR35 (G859R +1 more) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 7 with or without polydactyly +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LOC129933186, WDR35 (V869A +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | LOC129933186, WDR35 (M871I +1 more) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 7 with or without polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | LOC129933186, WDR35 (V867F +1 more) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 7 with or without polydactyly +3 more | |