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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129996786, LOC129996787
+1449 more
Copy number gain
See cases
GPathogenic
LOC129996748, LOC129996749
+299 more
Copy number loss
See cases
GPathogenic
AKIRIN2, ANKRD6
+220 more
Copy number loss
See cases
GPathogenic
LOC121740658, LOC123775380
+247 more
Copy number loss
See cases
GPathogenic
C6orf163, CGA
+34 more
Copy number loss
See cases
GLikely pathogenic
AKIRIN2, ANKRD6
+157 more
Copy number loss
See cases
GPathogenic
RARS2, RNGTT
+153 more
Copy number loss
See cases
GPathogenic
CGA, GJB7
+13 more
Copy number gain
See cases
GUncertain significance
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