Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Liberfarb syndrome | GPathogenic/Likely pathogenic |
| | | Deletion (intron variant) | Liberfarb syndrome | |
| | | Single nucleotide variant (intron variant) | PISD-related mitochondrial disease +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
Click to view in NCBI Gene