| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | LOC129931235, AP4B1 +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
Click to view in NCBI Gene