| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | MISSED ABORTION | |
| | ANKRD49, C11orf54 +16 more | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130006596, LOC130006597 +387 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC101929174, LOC102723838 +378 more | Copy number loss | See cases | |
| | LINC02553, LINC02700 +528 more | Copy number loss | See cases | |
Click to view in NCBI Gene