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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRT14
(C63Y)
Single nucleotide variant
(missense variant)
Dermatopathia pigmentosa reticularis
+6 more
GBenign
KRT14
(R56C)
Single nucleotide variant
(missense variant)
not provided
+6 more
GBenign/Likely benign
KRT14
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign
KRT14
(Q7*)
Single nucleotide variant
(nonsense)
Naegeli-Franceschetti-Jadassohn syndrome
GPathogenic
KRT14
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GBenign
KRT14
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GBenign
KRT14
(R6fs)
Deletion
(frameshift variant)
Naegeli-Franceschetti-Jadassohn syndrome
GPathogenic
KRT14
(A413T)
Single nucleotide variant
(missense variant)
KRT14-related condition
+7 more
GBenign/Likely benign
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