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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPHS2
(I189R)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome, type 2
GUncertain significance
NPHS2
(E11fs)
Duplication
(frameshift variant)
Nephrotic syndrome, type 2
GLikely pathogenic