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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130064925, LOC130064926
+1081 more
Copy number gain
See cases
GPathogenic
LOC130064903, LOC130064904
+1093 more
Copy number gain
See cases
GPathogenic
A1BG, A1BG-AS1
+647 more
Copy number gain
See cases
GPathogenic
DNAAF3, DNAAF3-AS1
+1 more
Deletion
(splice donor variant)
not provided
+2 more
GUncertain significance
DNAAF3, DNAAF3-AS1
+2 more
(L381P +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+6 more
GBenign/Likely benign
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