Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130064118, UQCRFS1 (S6A) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Propionic acidemia +2 more | |
| | | Single nucleotide variant (nonsense) | Propionic acidemia +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Propionic acidemia +2 more | |
Click to view in NCBI Gene