| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Cardiovascular phenotype +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II +1 more | |
| | | Insertion (intron variant) | Glycogen storage disease, type II | |
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