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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL7A1
(R2791W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
COL7A1
(G2542R)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
GLikely pathogenic