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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRF1
(W374*)
Single nucleotide variant
(nonsense)
Autoinflammatory syndrome
+4 more
GConflicting classifications of pathogenicity
PRF1
(L364fs)
Deletion
(frameshift variant)
Familial hemophagocytic lymphohistiocytosis 2
+1 more
GPathogenic
PRF1
(A91V)
Single nucleotide variant
(missense variant)
Autoinflammatory syndrome
+4 more
GConflicting classifications of pathogenicity; risk factor
PRF1
(L17fs)
Deletion
(frameshift variant)
Lymphoma, non-Hodgkin, familial
+6 more
GPathogenic
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