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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRT14
(M119R)
Single nucleotide variant
(missense variant)
Dermatopathia pigmentosa reticularis
GLikely pathogenic
KRT14
(D124E)
Single nucleotide variant
(missense variant)
Dermatopathia pigmentosa reticularis
GLikely pathogenic
KRT14
(C63Y)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
+6 more
GBenign
KRT14
(R56C)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 1C, localized
+6 more
GBenign/Likely benign
KRT14
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign
KRT14
(M119V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
KRT14
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign
KRT14
Single nucleotide variant
(synonymous variant)
Dermatopathia pigmentosa reticularis
+7 more
GBenign
KRT14
(A413T)
Single nucleotide variant
(missense variant)
not provided
+6 more
GBenign/Likely benign
KRT14
(C18*)
Single nucleotide variant
(nonsense)
Dermatopathia pigmentosa reticularis
GPathogenic
KRT14
(R125H)
Single nucleotide variant
(missense variant)
KRT14-related condition
+2 more
GPathogenic
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