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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATG10, ATP6AP1L
+691 more
Copy number gain
See cases
GPathogenic
AGGF1, AP3B1
+23 more
Copy number loss
See cases
GPathogenic
AGGF1
(E133K)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
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