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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADM, ACOT11
+570 more
Copy number gain
See cases
GPathogenic
LOC111501769, LOC112590812
+339 more
Copy number loss
See cases
GPathogenic
ACADM, AK4
+331 more
Copy number loss
See cases
GPathogenic
AK4, ALG6
+129 more
Copy number gain
See cases
GPathogenic
DNAJC6, DNAJC6-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
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