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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRT5
(R37Q)
Single nucleotide variant
(missense variant)
not provided
+9 more
GBenign/Likely benign
KRT5, LOC126861526
Single nucleotide variant
(synonymous variant)
not provided
+10 more
GBenign
KRT5
(L546fs)
Deletion
(frameshift variant)
Epidermolysis bullosa simplex 2C, localized
GPathogenic
KRT5
(E170K)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
+1 more
GPathogenic
KRT5, LOC126861526
(N193K)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
GPathogenic
KRT5
(N329K)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 2C, localized
GPathogenic
KRT5
(M327T)
Single nucleotide variant
(missense variant)
Dowling-Degos disease 1
+7 more
GPathogenic
KRT5
(I161S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
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