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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SALL2
(P221L +1 more)
Single nucleotide variant
(missense variant +1 more)
Coloboma, ocular, autosomal recessive
GUncertain significance
ARHGEF40, BCL2L2
+152 more
Copy number gain
not provided
GPathogenic