| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | |
| | | Duplication (frameshift variant) | Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 49 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 49 | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 49 | |
| | | Deletion (frameshift variant) | Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | |
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