U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 99

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRT14
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
KRT14
(E422K)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 1C, localized
GPathogenic
KRT14
(L419Q)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 1A, generalized severe
GPathogenic
KRT14
(L418V)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(R417P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KRT14
(T414fs)
Deletion
(frameshift variant)
not provided
Gnot provided
KRT14
(R416P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(R416fs)
Deletion
(frameshift variant)
Epidermolysis bullosa simplex 1A, generalized severe
GPathogenic
KRT14
(Y415C)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
GPathogenic
KRT14
(Y415H)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT14
(A413P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(A413T)
Single nucleotide variant
(missense variant)
KRT14-related disorder
+7 more
GBenign/Likely benign
KRT14
(I412N)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(I412F)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(E411del)
Deletion
(inframe_deletion)
Epidermolysis bullosa simplex
GPathogenic
KRT14
(E411*)
Single nucleotide variant
(nonsense)
Epidermolysis bullosa simplex, Koebner type
GPathogenic
KRT14
(E411K)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT14
(Q410*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
KRT14
(L408M)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(R407fs)
Deletion
(frameshift variant)
not provided
Gnot provided
KRT14
(L401P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(Q396*)
Single nucleotide variant
(nonsense)
Epidermolysis bullosa simplex 1A, generalized severe
+2 more
GLikely pathogenic
KRT14
(E392*)
Single nucleotide variant
(nonsense)
not provided
Gnot provided
KRT14
(R388P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(R388C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
KRT14
(R388G)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
Duplication
(inframe_insertion)
not provided
GLikely pathogenic
KRT14
(L384P)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex, Koebner type
+1 more
GPathogenic/Likely pathogenic
KRT14
(E381K)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(I377T)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT14
(I377N)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(E375del)
Deletion
(inframe_deletion)
not provided
GLikely pathogenic
KRT14
(T319P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
Single nucleotide variant
(splice donor variant)
not provided
Gnot provided
KRT14
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
KRT14
(W305*)
Single nucleotide variant
(nonsense)
Epidermolysis bullosa simplex 1A, generalized severe
+1 more
GPathogenic
KRT14
(A274D)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(D273G)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(M272T)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
+1 more
GPathogenic
KRT14
(M272R)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex, Koebner type
GPathogenic
KRT14
(V270M)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex, Koebner type
GPathogenic
KRT14
(V268D)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(K250fs)
Deletion
(frameshift variant)
Epidermolysis bullosa simplex
GPathogenic
KRT14
(Y248*)
Indel
(nonsense)
not provided
Gnot provided
KRT14
(R211P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(Y204*)
Single nucleotide variant
(nonsense)
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
GPathogenic
KRT14
(V186I)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
Deletion
(inframe_deletion)
not provided
Gnot provided
KRT14
(I176M)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
Single nucleotide variant
(splice acceptor variant)
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
GPathogenic
KRT14
(R148C)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(E144A)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
GPathogenic
KRT14
(L143P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(L143fs)
Deletion
(frameshift variant)
not provided
Gnot provided
KRT14
(N140S)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(L136P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(L136Q)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(R134P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(R134C)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
Single nucleotide variant
(synonymous variant)
not provided
Gnot provided
KRT14
(V133A)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(V133L)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
+1 more
GPathogenic
KRT14
(V133L)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(V133M)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT14
(L130P)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT14
(Y129C)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
KRT14
(Y129D)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
GPathogenic
KRT14
(S128del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
KRT14
(S128P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(R125L)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT14
(R125P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(R125H)
Single nucleotide variant
(missense variant)
KRT14-related disorder
+2 more
GPathogenic
KRT14
(R125G)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(R125C)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex, Koebner type
+4 more
GPathogenic
KRT14
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign
KRT14
(N123K)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(N123S)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT14
(L122F)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT14
(Q120R)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(Q120P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(M119I)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT14
(M119T)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT14
(M119V)
Single nucleotide variant
(missense variant)
Dermatopathia pigmentosa reticularis
+1 more
GPathogenic/Likely pathogenic
KRT14
(K116N)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(K116*)
Single nucleotide variant
(nonsense)
Epidermolysis bullosa simplex
GPathogenic
KRT14
(K116E)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(A105fs)
Deletion
(frameshift variant)
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
GPathogenic
KRT14
(A94T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
KRT14
Duplication
(frameshift variant)
not provided
Gnot provided
KRT14
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
KRT14
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GBenign
KRT14
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GBenign
KRT14
Single nucleotide variant
(no sequence alteration)
not provided
GBenign
KRT14
(S44fs)
Duplication
(frameshift variant)
not provided
Gnot provided
KRT14
(I31fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
KRT14
(R30C)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
KRT14
(C18*)
Single nucleotide variant
(nonsense)
Dermatopathia pigmentosa reticularis
GPathogenic
KRT14
(Q7*)
Single nucleotide variant
(nonsense)
Naegeli-Franceschetti-Jadassohn syndrome
GPathogenic
KRT14
(R6fs)
Deletion
(frameshift variant)
Naegeli-Franceschetti-Jadassohn syndrome
GPathogenic
Format
Items per page
Sort by
Choose Destination