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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC132088765, LOC132088766
+147 more
Copy number loss
See cases
GPathogenic
ABCB11, ACVR1
+530 more
Copy number gain
See cases
GPathogenic
BAZ2B, BAZ2B-AS1
+3 more
Copy number loss
See cases
GUncertain significance
ACVR1, ACVR1C
+42 more
Copy number loss
See cases
GPathogenic
DCAF17, DCDC2C
+1214 more
Copy number gain
See cases
GPathogenic
AAK1, AAMP
+1214 more
Copy number gain
See cases
GPathogenic
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