| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Recessive dystrophic epidermolysis bullosa | |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Recessive dystrophic epidermolysis bullosa | |
| | | Deletion (frameshift variant) | Recessive dystrophic epidermolysis bullosa +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Recessive dystrophic epidermolysis bullosa | |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa | |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion) | Recessive dystrophic epidermolysis bullosa | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
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