| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | HNRNPH2, RPL36A-HNRNPH2 (R114W) | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | RPL36A-HNRNPH2, HNRNPH2 (R206W) | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +6 more | GPathogenic/Likely pathogenic |
| | RPL36A-HNRNPH2, HNRNPH2 (R206Q) | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | |
| | HNRNPH2, RPL36A-HNRNPH2 (P209L) | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
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