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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CD27, CD27-AS1
(R131W)
Single nucleotide variant
(missense variant)
Lymphoproliferative syndrome 2
+1 more
GUncertain significance
CD27, CD27-AS1
(L136fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic