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Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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)
Epidermolytic hyperkeratosis 2A, autosomal dominant
GPathogenic
KRT10, KRT10-AS1
(K439fs)
Insertion
(frameshift variant)
Epidermolytic hyperkeratosis 2B, autosomal recessive
GPathogenic
KRT10, KRT10-AS1
(K439E)
Single nucleotide variant
(missense variant)
Epidermolytic hyperkeratosis 1
GPathogenic
KRT10, KRT10-AS1
(Q434*)
Single nucleotide variant
(nonsense)
Epidermolytic hyperkeratosis 2B, autosomal recessive
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)
Epidermolytic hyperkeratosis 2B, autosomal recessive
GPathogenic
KRT10, KRT10-AS1
Deletion
(inframe_deletion)
not provided
Gnot provided
KRT10, KRT10-AS1
(L161S)
Single nucleotide variant
(missense variant)
Epidermolytic hyperkeratosis 2A, autosomal dominant
GPathogenic
KRT10, KRT10-AS1
(Y160S)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT10, KRT10-AS1
(Y160D)
Single nucleotide variant
(missense variant)
Epidermolytic hyperkeratosis 2A, autosomal dominant
GPathogenic
KRT10, KRT10-AS1
(A158P)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT10, KRT10-AS1
(R156L)
Single nucleotide variant
(missense variant)
Epidermolytic hyperkeratosis 2A, autosomal dominant
GPathogenic
KRT10, KRT10-AS1
(R156P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT10, KRT10-AS1
(R156H)
Single nucleotide variant
(missense variant)
not provided
+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)
Epidermolytic ichthyosis
+5 more
GPathogenic
KRT10, KRT10-AS1
(N154H)
Single nucleotide variant
(missense variant)
Epidermolytic hyperkeratosis 2A, autosomal dominant
GPathogenic
KRT10, KRT10-AS1
(L153V)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT10-AS1, KRT10
(M150T)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT10, KRT10-AS1
(M150R)
Single nucleotide variant
(missense variant)
Epidermolytic hyperkeratosis 2A, autosomal dominant
GPathogenic
KRT10, KRT10-AS1
(G126S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
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