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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COX4I2
(V10M)
Single nucleotide variant
(missense variant)
Pancreatic insufficiency-anemia-hyperostosis syndrome
+1 more
GUncertain significance
COX4I2
(F111L)
Single nucleotide variant
(missense variant)
Pancreatic insufficiency-anemia-hyperostosis syndrome
+1 more
GConflicting classifications of pathogenicity