| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_deletion) | DiGeorge syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | DiGeorge syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | DiGeorge syndrome +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene