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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAX2
Deletion
(genic downstream transcript variant)
Renal cyst
GLikely pathogenic
PAX2
(N188S +1 more)
Single nucleotide variant
(missense variant)
Renal coloboma syndrome
+1 more
GUncertain significance