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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CARD14, LOC126862662
+1 more
(R823*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
CARD14, LOC126862662
+1 more
(R826W)
Single nucleotide variant
(missense variant +1 more)
Autoinflammatory syndrome
+3 more
GConflicting classifications of pathogenicity
SGSH, CARD14
+1 more
Single nucleotide variant
(splice donor variant)
Pityriasis rubra pilaris
+2 more
GUncertain significance
CARD14, LOC126862662
+1 more
Single nucleotide variant
(intron variant)
Pityriasis rubra pilaris
+2 more
GUncertain significance
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