| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GLA, RPL36A-HNRNPH2 (G328R +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease +1 more | GPathogenic/Likely pathogenic |
| | GLA, RPL36A-HNRNPH2 (K240fs +1 more) | Deletion (frameshift variant +2 more) | Fabry disease +1 more | |
| | GLA, RPL36A-HNRNPH2 (A143T +1 more) | Single nucleotide variant (missense variant +2 more) | Primary familial hypertrophic cardiomyopathy +5 more | GConflicting classifications of pathogenicity |
| | | Insertion | Fabry disease | |
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