| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | 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) | Inborn genetic diseases +1 more | |
Click to view in NCBI Gene