| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | not provided +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +7 more | |
| | | Deletion (inframe_indel +2 more) | Cerebrooculofacioskeletal syndrome 1 +2 more | |
| | | Deletion (inframe_indel +2 more) | Cerebrooculofacioskeletal syndrome 1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cerebrooculofacioskeletal syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Age related macular degeneration 5 +3 more | |
| | | Insertion (inframe_insertion +1 more) | Cerebrooculofacioskeletal syndrome 1 +2 more | |
| | | Microsatellite (inframe_deletion) | Cerebrooculofacioskeletal syndrome 1 +3 more | |
Click to view in NCBI Gene