| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 13 +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Multicystic kidney dysplasia +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Polydactyly +2 more | |
| | | Deletion (inframe_deletion) | Meckel syndrome, type 1 +9 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene