Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Bardet-Biedl syndrome 13 | |
| | | Single nucleotide variant (missense variant) | Limb undergrowth +7 more | |
| | | Single nucleotide variant (missense variant) | Growth delay +3 more | |
| | | Deletion (frameshift variant) | Growth delay +3 more | |
| | | Deletion (inframe_deletion) | Meckel syndrome, type 1 +9 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene