| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Meckel syndrome, type 6 | |
| | | Deletion (splice acceptor variant) | Familial aplasia of the vermis +6 more | |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +2 more | |
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