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Items: 60

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRT1
(R588G)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT1
(S584fs)
Duplication
(frameshift variant)
not provided
Gnot provided
KRT1
Deletion
(inframe_deletion)
not provided
GBenign
KRT1
(G543fs)
Deletion
(frameshift variant)
Keratosis palmoplantaris striata 3
GPathogenic
KRT1
(G537fs)
Indel
(frameshift variant)
Ichthyosis hystrix of Curth-Macklin
GPathogenic
KRT1
Deletion
(inframe_deletion)
not provided
GBenign
KRT1
(G519fs)
Deletion
(frameshift variant)
Ichthyosis hystrix of Curth-Macklin
GPathogenic
KRT1
(E490G)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT1
(E490Q)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT1
(E490K)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT1
(E489K)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT1
(L486R)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT1
(L486P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT1
(L485P)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
KRT1
(Y482C)
Single nucleotide variant
(missense variant)
Bullous ichthyosiform erythroderma
GPathogenic
KRT1
(T481P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT1
(I479T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
KRT1
(I479F)
Single nucleotide variant
(missense variant)
Ichthyosis, annular epidermolytic, 2
GPathogenic
KRT1
(E478D)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT1
(E478Q)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT1
(E478K)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT1
Single nucleotide variant
(no sequence alteration)
not provided
GBenign
KRT1
Deletion
(inframe_deletion)
Diffuse nonepidermolytic palmoplantar keratoderma
GPathogenic
KRT1
Single nucleotide variant
(synonymous variant)
Diffuse nonepidermolytic palmoplantar keratoderma
+2 more
GBenign
KRT1
(A454S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
KRT1
(L437P)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
KRT1
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
KRT1
(Y358N)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT1
(D340V)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT1
(D340G)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT1
Single nucleotide variant
(intron variant)
not provided
GBenign
KRT1
Single nucleotide variant
(intron variant)
not provided
GBenign
KRT1
(R267Q)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT1
Single nucleotide variant
(synonymous variant)
not provided
Gnot provided
KRT1
(S233L)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
KRT1
(F231L)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT1
(L214P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT1
(L208P)
Single nucleotide variant
(missense variant)
Bullous ichthyosiform erythroderma
GPathogenic
KRT1
Deletion
(splice donor variant)
not provided
Gnot provided
KRT1
Single nucleotide variant
(splice donor variant)
Diffuse nonepidermolytic palmoplantar keratoderma
GPathogenic
KRT1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
KRT1
Single nucleotide variant
(splice donor variant)
not provided
Gnot provided
KRT1
(S193P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT1
(F191L)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT1
(F191C)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT1
(F191I)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT1
(N188K)
Single nucleotide variant
(missense variant)
KRT1-related disorder
+2 more
GPathogenic
KRT1
(N188S)
Single nucleotide variant
(missense variant)
Ichthyosis, annular epidermolytic, 2
+1 more
GPathogenic/Likely pathogenic
KRT1
(N188T)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT1
(L187F)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT1
(S186P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT1
(R179P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT1
(K177N)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT1
Deletion
(inframe_deletion)
not provided
Gnot provided
KRT1
Deletion
(inframe_deletion)
not provided
Gnot provided
KRT1
(L161P)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT1
(V155G)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT1
(V155D)
Single nucleotide variant
(missense variant)
Bullous ichthyosiform erythroderma
GPathogenic
KRT1
(K74I)
Single nucleotide variant
(missense variant)
Diffuse nonepidermolytic palmoplantar keratoderma
GPathogenic
KRT1
Single nucleotide variant
(synonymous variant)
Diffuse nonepidermolytic palmoplantar keratoderma
+2 more
GBenign
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