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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRT5
(G550fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
KRT5, LOC126861525
(E477K)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 1C, localized
+3 more
GPathogenic
KRT5
(P25L)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
+2 more
GPathogenic
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