| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | GLA, RPL36A-HNRNPH2 (N272S +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease | GPathogenic/Likely pathogenic |
| | GLA, RPL36A-HNRNPH2 (A230T +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | RPL36A-HNRNPH2, GLA (R118C +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease +4 more | GConflicting classifications of pathogenicity |
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