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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AASS, ABCB8
+1547 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+908 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+737 more
Copy number loss
See cases
GPathogenic
LOC129999655, LOC129999656
+533 more
Copy number loss
See cases
GPathogenic
ACTR3B, BLACE
+226 more
Copy number loss
See cases
GPathogenic
BLACE, CNPY1
+204 more
Copy number loss
See cases
GPathogenic
BLACE, CNPY1
+205 more
Copy number loss
See cases
GPathogenic
LOC129999737, MNX1
+1 more
Deletion
(non-coding transcript variant)
not provided
GBenign
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