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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129390180, LOC129390181
+1008 more
Copy number gain
See cases
GPathogenic
LOC129390190, LOC129390191
+610 more
Copy number loss
See cases
GPathogenic
HERC4, HK1
+514 more
Copy number loss
See cases
GPathogenic
LOC130004125, LOC130004126
+580 more
Copy number gain
See cases
GPathogenic
LOC130004132, LOC130004133
+150 more
Copy number loss
See cases
GPathogenic
C10orf55, LOC126860958
+7 more
Copy number loss
See cases
GLikely benign
C10orf55, LOC110121485
+10 more
Duplication
Quebec platelet disorder
GPathogenic
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