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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NLRP3
(H51R +1 more)
Single nucleotide variant
(missense variant)
Cryopyrin associated periodic syndrome
+1 more
GConflicting classifications of pathogenicity
NLRP3
(R170* +1 more)
Single nucleotide variant
(nonsense)
Cryopyrin associated periodic syndrome
+1 more
GUncertain significance
NLRP3
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 1
+7 more
GBenign/Likely benign
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