| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | MISSED ABORTION | |
| | | Copy number loss | not provided | |
| | | Deletion | Ataxia-telangiectasia syndrome | |
| | | Deletion | Intellectual disability | |
| | | Duplication | Distal trisomy 11q | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | AAMDC, AASDHPPT +1289 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130006930, LOC130006931 +1199 more | Copy number gain | See cases | |
Click to view in NCBI Gene