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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM28, ADAM7
+979 more
Copy number gain
See cases
GPathogenic
LOC129999850, LOC129999851
+1038 more
Copy number gain
See cases
GPathogenic
TNFRSF10A, TNFRSF10A-DT
+920 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+898 more
Copy number gain
See cases
GPathogenic
BIN3, BIN3-IT1
+119 more
Copy number gain
See cases
GPathogenic
LGI3
(W359C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LGI3
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
LGI3
(Q91*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ADAM28, ADAM7
+82 more
Copy number gain
See cases
GPathogenic
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