| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant) | Filippi syndrome | |
| | | Duplication (frameshift variant) | Filippi syndrome | |
| | | Deletion (frameshift variant) | Filippi syndrome | |
| | | Deletion (splice acceptor variant) | Filippi syndrome | |
| | | Insertion (5 prime UTR variant +2 more) | Filippi syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Filippi syndrome | |
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