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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
LOC129994992, LOC129994993
+1157 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACSL6
+1218 more
Copy number gain
See cases
GPathogenic
ADAM19, ADAMTS2
+1166 more
Copy number gain
See cases
GPathogenic
ADAM19, ADRA1B
+294 more
Copy number loss
See cases
GPathogenic
ADAM19, ADRA1B
+279 more
Copy number loss
See cases
GPathogenic
LINC01470
Deletion
Primary amenorrhea
GUncertain significance
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