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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_001369369.1(FOXN1):c.763C>T (p.Arg255Ter) | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | 2024-07-29 | 1.0 | ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for FOXN1 Version 1.0.0 | FOXN1 |
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