Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Cystic renal dysplasia +1 more | |
| | | Single nucleotide variant (nonsense) | Clubfoot +4 more | |
| | | Single nucleotide variant (intron variant) | Occipital encephalocele +1 more | |
| | | Microsatellite (inframe_deletion) | Cystic renal dysplasia +3 more | |
| | | Single nucleotide variant (nonsense) | Retinal dystrophy +14 more | |
Click to view in NCBI Gene