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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_175914.5(HNF4A):c.968del (p.Gln323fs) | Pathogenic | monogenic diabetes | 2024-04-07 | 1.0 | ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF4A Version 2.0.0 | HNF4A |
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