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Items: 13

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
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
LOC129937247, LOC129937248
+127 more
Copy number loss
See cases
GPathogenic
ADPRH, ARHGAP31
+191 more
Copy number loss
See cases
GPathogenic
LOC129937460, LOC129937461
+571 more
Copy number loss
See cases
GPathogenic
LOC129937275, LOC129937276
+286 more
Copy number loss
See cases
GPathogenic
GAP43, LINC00901
+37 more
Copy number loss
See cases
GUncertain significance
LOC129937337, LOC129937338
+199 more
Copy number loss
See cases
GPathogenic
IGSF11, IGSF11-AS1
+25 more
Copy number gain
See cases
GUncertain significance
MIR4447, TUSC7
Copy number loss
See cases
GUncertain significance
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