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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDIA5, PHLDB2
+1344 more
Copy number gain
See cases
GPathogenic
TRAT1, TRMT10C
+638 more
Copy number loss
See cases
GPathogenic
CCDC54-AS1, LOC123002328
+682 more
Copy number loss
Chromosome 3q13.31 deletion syndrome
GPathogenic
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
LOC129937460, LOC129937461
+571 more
Copy number loss
See cases
GPathogenic
LOC129937275, LOC129937276
+286 more
Copy number loss
See cases
GPathogenic
ADCY5, ADPRH
+326 more
Copy number loss
See cases
GPathogenic
LOC129937413, LOC129937414
+291 more
Copy number loss
See cases
GPathogenic
ADCY5, CASR
+182 more
Copy number loss
See cases
GPathogenic
LOC129937447, LOC129937448
+214 more
Copy number loss
See cases
GPathogenic
CASR, CSTA
+45 more
Duplication
not specified
GUncertain significance
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