Links from Orgtrack
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal dominant Robinow syndrome 1 | |
| | | Duplication (frameshift variant) | Joubert syndrome 17 | |
| | | Deletion (intron variant) | Familial aplasia of the vermis | |
| | | Insertion (intron variant) | Joubert syndrome 17 | |
| | | Deletion (intron variant) | Joubert syndrome 17 | |
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