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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRT6C
(E472K)
Single nucleotide variant
(missense variant)
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
+1 more
GPathogenic/Likely pathogenic
KRT6C
Deletion
(inframe_deletion)
Focal palmoplantar keratoderma
GPathogenic
KRT6C
(N172del)
Microsatellite
(inframe_deletion)
not provided
GPathogenic
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