| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Thrombocytopenia +4 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Wiskott-Aldrich syndrome | |
| | | Single nucleotide variant (missense variant) | Wiskott-Aldrich syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Wiskott-Aldrich syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Wiskott-Aldrich syndrome | |
| | | Microsatellite (inframe_deletion) | Thrombocytopenia 1 +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene