| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number gain | See cases | |
| | ABHD14A, ABHD14A-ACY1
+329 more | Copy number loss | See cases | |
| | RASSF1, RASSF1-AS1 (R94C +1 more) | Single nucleotide variant (non-coding transcript variant +3 more) | not specified | |
| | RASSF1, RASSF1-AS1
+2 more (E337* +1 more) | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia 22 | |
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