| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Indel (frameshift variant +1 more) | Orofaciodigital syndrome I | |
| | | Microsatellite (inframe_deletion) | Joubert syndrome 10 +1 more | |
| | | Duplication (frameshift variant) | Orofaciodigital syndrome I +4 more | |
| | | Single nucleotide variant (splice donor variant) | Orofaciodigital syndrome I | |
Click to view in NCBI Gene