| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Indel (frameshift variant +1 more) | Orofaciodigital syndrome I | |
| | | Duplication (frameshift variant) | Orofaciodigital syndrome I +4 more | |
| | | Single nucleotide variant (splice donor variant) | Orofaciodigital syndrome I | |
Click to view in NCBI Gene