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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAX2
(V26fs +1 more)
Duplication
(frameshift variant)
Renal coloboma syndrome
+3 more
GPathogenic
PAX2
(T368S)
Single nucleotide variant
(missense variant +1 more)
Renal coloboma syndrome
+1 more
GUncertain significance
PAX2
(S387N +3 more)
Single nucleotide variant
(missense variant)
Renal coloboma syndrome
+1 more
GUncertain significance
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