| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | RPL36A-HNRNPH2, GLA (R404del) | Microsatellite (inframe_deletion +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | GLA, RPL36A-HNRNPH2 (G328V) | Single nucleotide variant (missense variant +2 more) | not provided | GPathogenic/Likely pathogenic |
| | GLA, RPL36A-HNRNPH2 (N320H) | Single nucleotide variant (missense variant +2 more) | not provided | |
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