| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | LOC126653391, RSPH1 (R28* +1 more) | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia 24 +1 more | GPathogenic/Likely pathogenic |
| | LOC126653391, RSPH1 (E29*) | Single nucleotide variant (nonsense +1 more) | not provided +2 more | |
Click to view in NCBI Gene