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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL7A1
(G2689R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
COL7A1
Single nucleotide variant
(intron variant)
COL7A1-related disorder
+1 more
GPathogenic/Likely pathogenic
COL7A1
(G2287R)
Single nucleotide variant
(missense variant)
COL7A1-related disorder
+2 more
GPathogenic
COL7A1
(R185*)
Single nucleotide variant
(nonsense)
Recessive dystrophic epidermolysis bullosa
+2 more
GPathogenic
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