| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Bleeding disorder, platelet-type, 21 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | 11q partial monosomy syndrome +1 more | GConflicting classifications of pathogenicity |
| | APLP2, LINC02873
+169 more | Deletion | Anemia +7 more | |
| | | Deletion | Paris-Trousseau thrombocytopenia | |
| | | Deletion | 11q partial monosomy syndrome | |
Click to view in NCBI Gene