| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense +1 more) | NEK1-related condition +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | not provided | |
| | | Deletion (frameshift 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 | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | Short-rib thoracic dysplasia 6 with or without polydactyly +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Jeune thoracic dystrophy | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (splice donor variant) | Motor neuron disease +3 more | GPathogenic/Likely pathogenic; other |
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