Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +2 more) | Platelet-type bleeding disorder 10 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Thrombocytopenia +3 more | GConflicting classifications of pathogenicity |
| | RUNX1, RUNX1-AS1 (R166Q +1 more) | Single nucleotide variant (missense variant) | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | Inherited bleeding disorder, platelet-type +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene