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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129389216, LOC129389217
+757 more
Copy number gain
See cases
GPathogenic
ENAM, LOC123477761
+360 more
Copy number loss
Piebaldism
GPathogenic
BTC, CABS1
+330 more
Deletion
See cases
GPathogenic
LOC129992695, LOC129992696
+533 more
Copy number gain
See cases
GPathogenic
ADAMTS3, AFM
+166 more
Copy number gain
See cases
GPathogenic
ABRAXAS1, ADAMTS3
+331 more
Copy number gain
See cases
GPathogenic
LINC02483, LOC126807083
+1 more
Copy number loss
See cases
GLikely benign
LINC02483, LOC123477765
+4 more
Copy number loss
See cases
GUncertain significance
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