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Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAX6_HS3, PAX6_HS8
+334 more
Copy number loss
See cases
GPathogenic
ABTB2, APIP
+100 more
Copy number gain
See cases
GPathogenic
ABTB2, APIP
+100 more
Copy number gain
See cases
GUncertain significance
APIP, CD44
+74 more
Duplication
11p13 microduplication syndrome
GUncertain significance
CD44, CD44-AS1
+66 more
Copy number loss
See cases
GUncertain significance
CD44, CD44-AS1
+56 more
Copy number loss
See cases
GUncertain significance
ACCS, ACCSL
+225 more
Copy number loss
See cases
GPathogenic
COMMD9, IFTAP
+36 more
Copy number loss
See cases
GLikely pathogenic
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