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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC132090301, LOC132090302
+178 more
Copy number loss
See cases
GPathogenic
ACTC1, AQR
+219 more
Copy number loss
See cases
GPathogenic
AVEN, CHRM5
+15 more
Copy number gain
See cases
GUncertain significance
AVEN, RYR3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
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