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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDIA5, PHLDB2
+1344 more
Copy number gain
See cases
GPathogenic
ABHD10, ABI3BP
+431 more
Copy number loss
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
ABHD10, ABI3BP
+398 more
Copy number loss
See cases
GPathogenic
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
LOC129389108, LOC129389109
+89 more
Copy number loss
See cases
GPathogenic
LOC132088858, LOC132088860
+248 more
Copy number gain
See cases
GPathogenic
BBX, C3orf85
+61 more
Copy number loss
See cases
GPathogenic
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