| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | HNRNPH2, RPL36A-HNRNPH2 (R206Q) | Single nucleotide variant (3 prime UTR variant +1 more) | HNRNPH2-related disorder +2 more | GConflicting classifications of pathogenicity |
| | HNRNPH2, RPL36A-HNRNPH2 (G399R) | Single nucleotide variant (3 prime UTR variant +1 more) | Intellectual disability, X-linked, syndromic, Bain type | |
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