Links from Orgtrack
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice donor variant) | Epidermolysis bullosa pruriginosa | |
| | | Single nucleotide variant (missense variant +2 more) | Warsaw breakage syndrome | |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells | |
| | | Deletion (frameshift variant) | Hereditary factor X deficiency disease | |
| | | Deletion (frameshift variant) | Hereditary factor X deficiency disease | |
| | | Microsatellite (frameshift variant) | Hereditary factor X deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor X deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor X deficiency disease | |
| | | Single nucleotide variant (nonsense) | Hereditary factor X deficiency disease | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary factor X deficiency disease | |
| | | Single nucleotide variant (missense variant) | ABCB6-related disorder +2 more | |
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