Links from MedGen
Items: 13
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Immunodeficiency 49 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 49 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 49 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | BCL11B-related disorder +3 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 49 +1 more | |
| | | Duplication (frameshift variant) | Immunodeficiency 49 +1 more | |
| | | Microsatellite (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 49 | |
| | | 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 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency +1 more | |
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