| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GLA, HNRNPH2
+1 more (R112H +1 more) | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Intellectual disability, X-linked, syndromic, Bain type +1 more | |
Click to view in NCBI Gene