| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GLA, RPL36A-HNRNPH2 (Q280del +1 more) | Deletion (inframe_deletion +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (A143T +1 more) | Single nucleotide variant (missense variant +2 more) | Primary familial hypertrophic cardiomyopathy +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene