| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC129388571, LOC129388572 +563 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | AP4B1-AS1, BCL2L15 (F151L) | Single nucleotide variant (missense variant) | not specified | |
| | AP4B1-AS1, BCL2L15 (D103N) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Hereditary spastic paraplegia 47 | |
| | | Deletion | not provided | |
| | | Duplication | RASopathy | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | Seizure +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
Click to view in NCBI Gene