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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EEF1A1-AS1, KCNQ5-DT
+310 more
Copy number loss
See cases
GPathogenic
ADGRB3, COL19A1
+35 more
Copy number gain
See cases
GPathogenic
B3GAT2, COL19A1
+20 more
Copy number gain
See cases
GUncertain significance
B3GAT2, COL9A1
+19 more
Copy number gain
See cases
GLikely benign
COL9A1, FAM135A
+17 more
Copy number gain
See cases
GUncertain significance
FAM135A, FAM135A-AS1
+6 more
Copy number gain
See cases
GUncertain significance
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