| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
Click to view in NCBI Gene