| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Indel (splice acceptor variant) | Oculofaciocardiodental syndrome | |
| | | Duplication (frameshift variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
Click to view in NCBI Gene