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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCD4, ABHD12B
+3281 more
Copy number gain
See cases
GPathogenic
ABCD4, ABHD12B
+3276 more
Copy number gain
See cases
GPathogenic
ACTR10, AKAP5
+344 more
Copy number loss
See cases
GPathogenic
LOC132090233, LOC132090234
+264 more
Copy number loss
See cases
GPathogenic
AKAP5, CHURC1
+130 more
Copy number loss
See cases
GPathogenic
MIR7855, SPTB
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic
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