| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene