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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129997450, LOC129997451
+1002 more
Copy number gain
See cases
GPathogenic
LOC129389692, LOC129389693
+614 more
Copy number gain
See cases
GPathogenic
LOC129389719, LOC129389720
+866 more
Copy number gain
See cases
GPathogenic
ADGB, ADGB-DT
+227 more
Copy number loss
See cases
GPathogenic
LOC132089373, LOC132090771
+172 more
Copy number loss
See cases
GPathogenic
GINM1, IYD
+131 more
Copy number loss
See cases
GPathogenic
LOC129997480, LOC129997522
+288 more
Deletion
Chromosome 6q24-q25 deletion syndrome
GPathogenic
AKAP12, ARID1B
+288 more
Copy number loss
See cases
GPathogenic
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