| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GLA, RPL36A-HNRNPH2 (R363H) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | HNRNPH2, RPL36A-HNRNPH2 (R206W) | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +6 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene