| | | Single nucleotide variant (missense variant) | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | |
| | | Single nucleotide variant (nonsense) | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | |
| | | 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) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | |
| | | Single nucleotide variant (splice donor 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 (nonsense) | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | LOC130009384, LOC130009385 +1 more | Deletion | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (splice acceptor variant +1 more) | 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) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome +2 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) | Cardiomyopathy +2 more | |
| | | Single nucleotide variant (nonsense) | Cardiomyopathy +2 more | |
| | | 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) | Cardiomyopathy +2 more | |