| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant +1 more) | Dilated cardiomyopathy 1G +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2J | |
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