| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | TTC21B, TTC21B-AS1 (T231S) | Single nucleotide variant (missense variant) | TTC21B-related disorder +7 more | GConflicting classifications of pathogenicity |
| | TTC21B, TTC21B-AS1 (Q222L) | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy +6 more | |
| | TTC21B, TTC21B-AS1 (V201M) | Single nucleotide variant (missense variant) | not specified +4 more | |
| | TTC21B, TTC21B-AS1 (D152A) | Single nucleotide variant (missense variant) | not specified +4 more | |
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