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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NOC3L, PLCE1
(L1882F +2 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 3
GUncertain significance
NOC3L, PLCE1
(R1993* +2 more)
Single nucleotide variant
(nonsense)
Nephrotic syndrome, type 3
GLikely pathogenic