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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGA, NEIL3
Copy number gain
Aural atresia, congenital
GUncertain significance
FGFR2
(W290C +3 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related disorder
+2 more
GPathogenic