| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | TTC21B, TTC21B-AS1 (L223V) | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy +1 more | |
| | TTC21B, TTC21B-AS1 (P209L) | Single nucleotide variant (missense variant) | not provided +7 more | GPathogenic/Likely pathogenic |
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