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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NUP93
(R455P +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 12
GLikely pathogenic
NUP93
Deletion
(inframe_deletion)
Nephrotic syndrome, type 12
+1 more
GConflicting classifications of pathogenicity