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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD14A, ABHD14A-ACY1
+329 more
Copy number loss
See cases
GPathogenic
ITIH3
(Q308K +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ABHD6, ACOX2
+66 more
Copy number loss
See cases
GPathogenic
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