Links from MedGen
Items: 2
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +2 more) | Bardet-Biedl syndrome 13 | |
| | | Deletion (inframe_deletion) | Polydactyly +9 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene