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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRT9
(L458F)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT9
Duplication
(inframe_insertion)
not provided
Gnot provided
KRT9
(Y454H)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT9
(C406R)
Single nucleotide variant
(missense variant)
Palmoplantar keratoderma, epidermolytic
+1 more
GConflicting classifications of pathogenicity
KRT9
(Q172P)
Single nucleotide variant
(missense variant)
Epidermolytic palmoplantar keratoderma, 1
GPathogenic
KRT9
(V171M)
Single nucleotide variant
(missense variant)
Epidermolytic palmoplantar keratoderma, 1
GPathogenic
KRT9
(K170*)
Single nucleotide variant
(nonsense)
not provided
Gnot provided
KRT9
(L168S)
Single nucleotide variant
(missense variant)
Epidermolytic palmoplantar keratoderma, 1
GPathogenic
KRT9
Indel
(inframe_indel)
not provided
Gnot provided
KRT9
(R163P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT9
(R163Q)
Single nucleotide variant
(missense variant)
Palmoplantar keratoderma, epidermolytic
+2 more
GPathogenic/Likely pathogenic
KRT9
(R163W)
Single nucleotide variant
(missense variant)
Palmoplantar keratoderma
+2 more
GPathogenic/Likely pathogenic
KRT9
(S162P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT9
(N161K)
Single nucleotide variant
(missense variant)
Palmoplantar keratoderma, epidermolytic
GLikely pathogenic
KRT9
(N161I)
Single nucleotide variant
(missense variant)
Epidermolytic palmoplantar keratoderma, 1
GPathogenic
KRT9
(N161S)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT9
(N161H)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT9
(N161Y)
Single nucleotide variant
(missense variant)
Epidermolytic palmoplantar keratoderma, 1
GPathogenic
KRT9
(L160F)
Single nucleotide variant
(missense variant)
Epidermolytic palmoplantar keratoderma, 1
GPathogenic
KRT9
(L160V)
Single nucleotide variant
(missense variant)
Epidermolytic palmoplantar keratoderma, 1
GPathogenic
KRT9
(M157R)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT9
(M157K)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT9
(M157T)
Single nucleotide variant
(missense variant)
Palmoplantar keratoderma, epidermolytic
GUncertain significance
KRT9
(M157V)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT9
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
KRT9
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KRT9
Single nucleotide variant
(synonymous variant)
not provided
Gnot provided
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