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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRT10
(G521fs)
Deletion
(frameshift variant)
Congenital reticular ichthyosiform erythroderma
GPathogenic
KRT10
(G516fs)
Indel
(frameshift variant)
not provided
Gnot provided
KRT10
(G484fs)
Insertion
(frameshift variant)
not provided
Gnot provided
KRT10, KRT10-AS1
(L453P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT10, KRT10-AS1
(L452P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT10, KRT10-AS1
(Y449C)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT10, KRT10-AS1
(Q447P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT10, KRT10-AS1
(I446T)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT10, KRT10-AS1
(E445K)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT10-AS1, KRT10
(L442Q)
Single nucleotide variant
(missense variant)
Bullous ichthyosiform erythroderma
GPathogenic
KRT10, KRT10-AS1
(K439fs)
Insertion
(frameshift variant)
Bullous ichthyosiform erythroderma
GPathogenic
KRT10, KRT10-AS1
(K439E)
Single nucleotide variant
(missense variant)
Bullous ichthyosiform erythroderma
GPathogenic
KRT10, KRT10-AS1
(Q434*)
Single nucleotide variant
(nonsense)
Bullous ichthyosiform erythroderma
GPathogenic
KRT10, KRT10-AS1
Indel
(nonsense)
not provided
Gnot provided
KRT10, KRT10-AS1
(R422E)
Indel
(missense variant)
Annular epidermolytic ichthyosis
GPathogenic
KRT10, KRT10-AS1
+1 more
Single nucleotide variant
(intron variant)
Bullous ichthyosiform erythroderma
GPathogenic
KRT10, KRT10-AS1
Deletion
(inframe_deletion)
not provided
Gnot provided
KRT10, KRT10-AS1
(L161S)
Single nucleotide variant
(missense variant)
Bullous ichthyosiform erythroderma
GPathogenic
KRT10, KRT10-AS1
(Y160S)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT10, KRT10-AS1
(Y160D)
Single nucleotide variant
(missense variant)
Bullous ichthyosiform erythroderma
GPathogenic
KRT10, KRT10-AS1
(A158P)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT10, KRT10-AS1
(R156L)
Single nucleotide variant
(missense variant)
Bullous ichthyosiform erythroderma
GPathogenic
KRT10, KRT10-AS1
(R156P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT10, KRT10-AS1
(R156H)
Single nucleotide variant
(missense variant)
Bullous ichthyosiform erythroderma
+2 more
GPathogenic
KRT10-AS1, KRT10
(R156G)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT10-AS1, KRT10
(R156S)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT10, KRT10-AS1
Indel
(missense variant)
not provided
Gnot provided
KRT10, KRT10-AS1
(R156C)
Single nucleotide variant
(missense variant)
KRT10-related disorder
+5 more
GPathogenic
KRT10, KRT10-AS1
(N154H)
Single nucleotide variant
(missense variant)
Bullous ichthyosiform erythroderma
GPathogenic
KRT10, KRT10-AS1
(L153V)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT10, KRT10-AS1
(M150T)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT10, KRT10-AS1
(M150R)
Single nucleotide variant
(missense variant)
Bullous ichthyosiform erythroderma
GPathogenic
KRT10, KRT10-AS1
(G126S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
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