| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (splice donor variant) | DiGeorge syndrome | GPathogenic/Likely pathogenic |
| | | Copy number loss | DiGeorge syndrome | |
| | | Copy number gain | Chromosome 22q11.2 deletion syndrome, distal +1 more | |
| | | Copy number gain | Chromosome 22q11.2 deletion syndrome, distal | |
| | | Copy number loss | Schizophrenia | |
| | | Copy number loss | Chromosome 22q11.2 deletion syndrome, distal | |
| | | Copy number gain | Epilepsy +1 more | |
| | | Deletion | Intellectual disability | |
| | | Deletion | Epilepsy +1 more | |
Click to view in NCBI Gene