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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL7A1
(S1373L)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
COL7A1
(R990Q)
Single nucleotide variant
(missense variant)
Transient bullous dermolysis of the newborn
+8 more
GConflicting classifications of pathogenicity
COL7A1
(G798R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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