| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glycosylphosphatidylinositol biosynthesis defect 16 +2 more | |
Click to view in NCBI Gene