| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | GLA, RPL36A-HNRNPH2 (D313Y) | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +6 more | GConflicting classifications of pathogenicity; other |
| | GLA, RPL36A-HNRNPH2 (A143T) | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +5 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 |
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