| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | HNRNPH2, RPL36A-HNRNPH2 (R206W) | Single nucleotide variant (3 prime UTR variant +1 more) | Neurodevelopmental delay +6 more | GPathogenic/Likely pathogenic |
| | HNRNPH2, RPL36A-HNRNPH2 (R206Q) | Single nucleotide variant (3 prime UTR variant +1 more) | Intellectual disability, X-linked, syndromic, Bain type +2 more | |
| | | Copy number gain | Klinefelter syndrome | |
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