Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 5 | |
| | ISCA1, LOC130001967 (V10G) | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 5 | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene