| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130009384, LOC130009385
+1 more | Deletion | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | |
| | | 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 provided +1 more | |
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