| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ARL5A, LOC108348024
+7 more | Copy number loss | See cases | |
| | NEB, RIF1 (F6366fs +2 more) | Deletion (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene