Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Orofacial-digital syndrome III | |
| | | Microsatellite (inframe_deletion) | Saldino-Mainzer syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion) | not provided | |
Click to view in NCBI Gene