| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Intellectual disability, mild +4 more | |
| | | Copy number loss | Decreased body weight +14 more | |
| | | Copy number loss | Intellectual disability, mild +8 more | |
| | | Copy number loss | Autism +7 more | |
| | CSGALNACT1, SFTPC +77 more | Copy number gain | Autism +7 more | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome and Noonan-related syndrome +11 more | |
| | | Copy number gain | Intellectual disability, mild +8 more | |
| | | Copy number gain | Intellectual disability, mild +8 more | |
| | | Copy number loss | Ear malformation +13 more | |
Click to view in NCBI Gene