| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Renal dysplasia and retinal aplasia | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | TTC21B-AS1, TTC21B (P209L) | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 4 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | IQCB1-related disorder +4 more | |
| | | Duplication (frameshift variant +1 more) | Renal dysplasia and retinal aplasia | |
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