| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (intron variant) | Mitochondrial DNA deletion syndrome with progressive myopathy +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial DNA deletion syndrome with progressive myopathy +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Seckel syndrome 8 +2 more | |
| | | Deletion (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +3 more | |
| | | Deletion (intron variant) | Seckel syndrome 8 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +3 more | |
Click to view in NCBI Gene