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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL7A1
(R2008C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
COL7A1
(G1400S)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
GPathogenic
COL7A1
(K142R)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
+12 more
GPathogenic
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