Links from MedGen
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | IRX5, LOC126862355 (R168H) | Single nucleotide variant (missense variant) | Craniofacial dysplasia - osteopenia syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Craniofacial dysplasia - osteopenia syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Indel (frameshift variant) | Craniofacial dysplasia - osteopenia syndrome | |
| | | Microsatellite (inframe_deletion) | Craniofacial dysplasia - osteopenia syndrome | |
| | IRX5, LOC126862355 (A150P) | Single nucleotide variant (missense variant) | Craniofacial dysplasia - osteopenia syndrome | |
| | IRX5, LOC126862355 (N166K) | Single nucleotide variant (missense variant) | Craniofacial dysplasia - osteopenia syndrome | |
Click to view in NCBI Gene