Links from MedGen
Items: 15
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Craniofacial microsomia 2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hemifacial microsomia | |
| | | Single nucleotide variant (missense variant) | Hemifacial microsomia | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Hemifacial microsomia | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Copy number gain | Hemifacial microsomia | |
| | | Single nucleotide variant (nonsense) | Hemifacial microsomia | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LOC130006095, SF3B2 (L828fs) | Duplication (frameshift variant) | Hemifacial microsomia | |
| | | Single nucleotide variant (missense variant +1 more) | Hemifacial microsomia | |
| | | Single nucleotide variant (nonsense) | Hemifacial microsomia | |
| | | Deletion (splice acceptor variant) | Hemifacial microsomia | |
| | | Single nucleotide variant (missense variant) | Hemifacial microsomia | |
Click to view in NCBI Gene