| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | beta Thalassemia +13 more | |
| | HBB, LOC106099062
+1 more (E7V) | Single nucleotide variant (missense variant) | not provided +15 more | |
| | | Microsatellite (inframe_deletion) | Dyskeratosis congenita, autosomal dominant 6 | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | |
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