Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126805688, YARS1 (F269S) | Single nucleotide variant (missense variant) | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | not provided +17 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Acanthosis nigricans +14 more | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Deletion (inframe_deletion +1 more) | not specified +12 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene