| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +4 more | |
| | GLA, RPL36A-HNRNPH2 (A143T +1 more) | Single nucleotide variant (missense variant +2 more) | not provided +5 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (R118C +1 more) | Single nucleotide variant (missense variant +2 more) | not specified +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene