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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC112340388, LOC112441449
+821 more
Copy number gain
See cases
GPathogenic
OR1F1, OR2C1
+916 more
Copy number gain
See cases
GPathogenic
LOC130058195, LOC130058196
+556 more
Copy number gain
See cases
GPathogenic
RMI2, RNF151
+842 more
Copy number gain
See cases
GPathogenic
LOC130058340, LOC130058341
+925 more
Copy number gain
See cases
GPathogenic
ADCY9, ALG1
+262 more
Copy number loss
See cases
GPathogenic
ADCY9, CREBBP
+35 more
Copy number loss
See cases
GPathogenic
LOC125146386, LOC125146387
+40 more
Deletion
See cases
GPathogenic
ADCY9, C16orf96
+54 more
Copy number gain
See cases
GUncertain significance
ADCY9, C16orf96
+51 more
Copy number gain
See cases
GPathogenic
LOC125146383, LOC125146384
+66 more
Deletion
Rubinstein-Taybi syndrome
GPathogenic
ADCY9, C16orf96
+49 more
Copy number loss
See cases
GPathogenic
GLIS2, GLIS2-AS1
+10 more
Deletion
Low-set ears
+5 more
GUncertain significance
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