Links from MedGen
Items: 13
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant) | Moyamoya disease with early-onset achalasia | |
| | | Single nucleotide variant (splice donor variant) | Moyamoya disease with early-onset achalasia | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Moyamoya disease with early-onset achalasia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Moyamoya disease with early-onset achalasia | |
| | | Single nucleotide variant (missense variant) | Moyamoya disease with early-onset achalasia | |
| | | Single nucleotide variant (nonsense) | Moyamoya disease with early-onset achalasia | |
| | | Microsatellite (frameshift variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Moyamoya disease 1 +1 more | |
| | | Single nucleotide variant (nonsense) | Moyamoya disease 1 +1 more | |
| | | Deletion (frameshift variant) | Moyamoya disease with early-onset achalasia | |
| | | Single nucleotide variant (nonsense) | Moyamoya disease with early-onset achalasia | |
| | | Single nucleotide variant (splice donor variant) | Moyamoya disease with early-onset achalasia | |
Click to view in NCBI Gene