| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (synonymous variant) | not specified +6 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +6 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Walker-Warburg congenital muscular dystrophy +7 more | |
| | | Single nucleotide variant (synonymous variant) | Walker-Warburg congenital muscular dystrophy +7 more | |
| | | Single nucleotide variant (synonymous variant) | FKRP-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | FKRP-related disorder +20 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Walker-Warburg congenital muscular dystrophy +7 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
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