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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRT5, LOC126861525
(E477K)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 1C, localized
+3 more
GPathogenic
KRT14
(R125H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
KRT14
(R125C)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex, Koebner type
+4 more
GPathogenic
KRT14
(N123S)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT14
(M119T)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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