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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NUP133
(L1055S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NUP133
(S974R)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 18
GLikely pathogenic
NUP133
(R231G)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 18
GLikely pathogenic
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