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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NUP93
(Y192C +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome
GLikely pathogenic
NUP93
(G591V +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 12
+1 more
GConflicting classifications of pathogenicity
NUP93
(Y629C +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 12
+1 more
GPathogenic/Likely pathogenic
NUP93
(R550W +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 12
+1 more
GUncertain significance
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