| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC130057927, LOC130057928 +1764 more | Copy number gain | See cases | |
| | LOC116268473, LOC116268474 +1244 more | Copy number gain | See cases | |
| | LOC130057730, LOC132090332 +175 more | Copy number loss | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | Developmental cataract +1 more | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | EDICT syndrome | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
Click to view in NCBI Gene