Links from MedGen
Items: 21
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | Joubert syndrome 26 | |
| | | Insertion (frameshift variant) | Joubert syndrome 26 | |
| | | Deletion | Joubert syndrome 26 | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 26 | |
| | | Single nucleotide variant (splice acceptor variant) | Joubert syndrome 26 | |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 26 | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 26 | |
| | | Deletion (frameshift variant) | Joubert syndrome 26 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 26 | |
| | | Single nucleotide variant (splice donor variant) | Joubert syndrome 26 | |
| | | Deletion (frameshift variant) | Joubert syndrome 26 | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 26 | |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 26 | |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 26 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 26 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Joubert syndrome 26 | |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis | |
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