Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Parkinsonism-dystonia 3, childhood-onset | |
| | | Single nucleotide variant (nonsense) | Parkinsonism-dystonia 3, childhood-onset | |
| | | Single nucleotide variant (missense variant +2 more) | Parkinsonism-dystonia 3, childhood-onset | |
| | | Deletion | Parkinsonism-dystonia 3, childhood-onset | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | |
| | | Single nucleotide variant (nonsense +1 more) | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | |
| | | Single nucleotide variant (missense variant +2 more) | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | |
| | | Deletion (frameshift variant +1 more) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion +1 more) | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures +1 more | GConflicting classifications of pathogenicity |
| | LOC129931299, WARS2
+1 more (W13G) | Single nucleotide variant (missense variant +2 more) | not provided +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene