| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +7 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +7 more | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +20 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Walker-Warburg congenital muscular dystrophy +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene