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Items: 1 to 100 of 234

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC112533659, LOC112533660
+2032 more
Copy number gain
See cases
GPathogenic
AARSD1, AATF
+1753 more
Copy number gain
See cases
GPathogenic
AARSD1, ACBD4
+633 more
Copy number gain
See cases
GPathogenic
KRT14
(R469H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KRT14
(Q466H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KRT14
(D454G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KRT14
(V452I)
Single nucleotide variant
(missense variant)
not provided
GBenign
KRT14
(K451N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KRT14
(R449H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KRT14
(R446C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KRT14
(R446S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KRT14
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
KRT14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KRT14
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
KRT14
(S435L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KRT14
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
KRT14
Single nucleotide variant
(intron variant)
not provided
GBenign
KRT14
Duplication
(intron variant)
not provided
GBenign
KRT14
Single nucleotide variant
(intron variant)
not provided
GBenign
KRT14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KRT14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KRT14
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex
GPathogenic
KRT14
(E422K)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 1C, localized
GPathogenic
KRT14
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
KRT14
Deletion
(inframe_deletion)
Epidermolysis bullosa simplex 1A, generalized severe
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
(R417C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KRT14
(T414fs)
Deletion
(frameshift variant)
not provided
Gnot provided
KRT14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KRT14
(R416P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(R416C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KRT14
(R416S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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 condition
+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
(L408Q)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
GPathogenic
KRT14
(L408M)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(R407Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KRT14
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KRT14
(R407fs)
Deletion
(frameshift variant)
not provided
Gnot provided
KRT14
(L402R)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
GPathogenic
KRT14
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
KRT14
(L401P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(I400S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KRT14
Deletion
(nonsense)
not provided
GPathogenic
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
(C389fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
KRT14
(R388H)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
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
(E382*)
Single nucleotide variant
(nonsense)
Epidermolysis bullosa simplex
GPathogenic
KRT14
(E381K)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(V380M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KRT14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KRT14
(I377S)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
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
(Q374fs)
Insertion
(frameshift variant)
not provided
GPathogenic
KRT14
(L370P)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
KRT14
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
KRT14
(R335W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KRT14
Single nucleotide variant
(synonymous variant)
KRT14-related condition
GLikely benign
KRT14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KRT14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KRT14
(T319P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KRT14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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
(E303K)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
KRT14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KRT14
(M294T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KRT14
(E292K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KRT14
(R288L)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
KRT14
(E286Q)
Single nucleotide variant
(missense variant)
KRT14-related condition
GUncertain significance
KRT14
(E286K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KRT14
(N285T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KRT14
(L284P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KRT14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KRT14
(G277V)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 1C, localized
GUncertain significance
KRT14
(A274D)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(D273G)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT14
(M272K)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 1A, generalized severe
GLikely pathogenic
KRT14
(M272T)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
+1 more
GPathogenic
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