| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome +2 more | |
| | | Single nucleotide variant (nonsense) | Cardiomyopathy +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | |
| | | Single nucleotide variant (missense variant) | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +2 more | |
| | | Single nucleotide variant (missense variant) | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | Cardiomyopathy +2 more | |
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