Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion | Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome | |
| | | Single nucleotide variant (nonsense) | Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (splice donor variant) | Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome | |
Click to view in NCBI Gene