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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATF6
(R324C)
Single nucleotide variant
(missense variant)
ATF6-related condition
+2 more
GPathogenic
ATF6
Single nucleotide variant
(splice donor variant)
Achromatopsia 7
+1 more
GPathogenic