Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 22 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 40 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant) | Joubert syndrome 40 | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 40 +2 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 40 +3 more | |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 40 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 40 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 40 | |
| | | Deletion (frameshift variant) | Joubert syndrome 40 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene