Links from MedGen
Items: 14
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Isolated Pierre-Robin syndrome +4 more | |
| | | Single nucleotide variant (splice donor variant) | Isolated Pierre-Robin syndrome +4 more | |
| | ATP5MF-PTCD1, AZGP1 +127 more | Copy number gain | Isolated Pierre-Robin syndrome +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Isolated Pierre-Robin syndrome +1 more | |
| | | Duplication | Bilateral conductive hearing impairment +3 more | |
| | | Copy number gain | Isolated Pierre-Robin syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Isolated Pierre-Robin syndrome +8 more | |
| | | Translocation | Cleft soft palate +13 more | |
| | | Translocation | Isolated Pierre-Robin syndrome | |
| | | Translocation | Isolated Pierre-Robin syndrome +1 more | |
| | | Translocation | Isolated Pierre-Robin syndrome +14 more | |
| | | Translocation | Seizure +12 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Translocation | Hypertelorism +13 more | |
Click to view in NCBI Gene