| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | NFU1-related condition +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple mitochondrial dysfunctions syndrome 1 | |
| | | Copy number loss | not provided | |
Click to view in NCBI Gene