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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM28, ADAM7
+979 more
Copy number gain
See cases
GPathogenic
LOC130000099, LOC130000100
+1040 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+922 more
Copy number gain
See cases
GPathogenic
LOC130000309, LOC130000310
+900 more
Copy number gain
See cases
GPathogenic
BIN3, BIN3-IT1
+119 more
Copy number gain
See cases
GPathogenic
PPP3CC
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
ADAM28, ADAM7
+82 more
Copy number gain
See cases
GPathogenic
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