| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Okur-Chung neurodevelopmental syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Silver-Russell syndrome 1 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | AAMDC, AASDHPPT +1289 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130005321, LOC130005322 +208 more | Copy number loss | See cases | |
| | A-GAMMA3'E, ABCC8 +917 more | Copy number gain | See cases | |
Click to view in NCBI Gene