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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKCD
(R273Q +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GUncertain significance
PRKCD
(R502W +2 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
GConflicting classifications of pathogenicity