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Links from MedGen

Items: 7

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)
Dowling-Degos disease 1
+10 more
GBenign
KRT5
(N176S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
KRT5, LOC126861525
(E477K)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 1C, localized
+3 more
GPathogenic
KRT5
(G550fs)
Deletion
(frameshift variant)
KRT5-related disorder
+2 more
GPathogenic
KRT5
(P25L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
KRT5
(M327T)
Single nucleotide variant
(missense variant)
not provided
+8 more
GPathogenic/Likely pathogenic
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