Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (3 prime UTR variant +1 more) | CACNA1A-related disorder +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 2 +11 more | |
| | | Single nucleotide variant (missense variant) | Abnormal muscle tone +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pulmonary arterial hypertension | |
Click to view in NCBI Gene