Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | DNAH8, DNAH8-AS1 (R3732I +1 more) | Single nucleotide variant (missense variant) | Recurrent respiratory infections +2 more | |
| | | Deletion (frameshift variant) | CACNA1A-related disorder +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Christianson syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | ARID1B-related BAFopathy +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Glucose-6-phosphate transport defect +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene