Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion | Protein S deficiency disease +1 more | |
| | | Deletion (frameshift variant) | Abnormal thrombosis +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary antithrombin deficiency | |
| | | Single nucleotide variant (missense variant) | Abnormal thrombosis | |
| | | Single nucleotide variant (missense variant) | Cerebral palsy +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene