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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLCE1
(R493* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
PLCE1
(S1388fs +2 more)
Insertion
(frameshift variant)
Nephrotic syndrome, type 3
GPathogenic