Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome | |
| | | Single nucleotide variant (nonsense) | Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome | |
| | | Deletion (frameshift variant) | Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome | |
Click to view in NCBI Gene