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Links from MedGen

Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRT6C
Single nucleotide variant
(synonymous variant)
KRT6C-related disorder
+1 more
GBenign
KRT6C
Single nucleotide variant
(synonymous variant)
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
+1 more
GBenign
KRT6C
Single nucleotide variant
(synonymous variant)
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
+1 more
GBenign
KRT6C
Single nucleotide variant
(synonymous variant)
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
+1 more
GBenign
KRT6C
Single nucleotide variant
(synonymous variant)
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
GBenign
KRT6C
(S143N)
Single nucleotide variant
(missense variant)
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
GBenign
KRT6C
(R182Q)
Single nucleotide variant
(missense variant)
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
GBenign
KRT6C
Single nucleotide variant
(synonymous variant)
KRT6C-related disorder
+1 more
GBenign
KRT6C
Single nucleotide variant
(intron variant)
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
GBenign
KRT6C
Single nucleotide variant
(intron variant)
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
GBenign
KRT6C
Single nucleotide variant
(synonymous variant)
KRT6C-related disorder
+2 more
GBenign
KRT6C
(V481I)
Single nucleotide variant
(missense variant)
KRT6C-related disorder
+2 more
GBenign
KRT6C
Single nucleotide variant
(intron variant)
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
+2 more
GBenign
KRT6C
Single nucleotide variant
(synonymous variant)
KRT6C-related disorder
+2 more
GBenign
KRT6C
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
KRT6C
(E472K)
Single nucleotide variant
(missense variant)
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
+1 more
GPathogenic/Likely pathogenic
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