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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC120908923, LOC120947224
+1352 more
Copy number gain
See cases
GPathogenic
HHAT
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
HHAT
(G264R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACBD3, ADIPOR1
+242 more
Copy number gain
See cases
GPathogenic
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