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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAAF4, DNAAF4-CCPG1
Deletion
(intron variant)
Primary ciliary dyskinesia
GPathogenic
DNAAF4, DNAAF4-CCPG1
Deletion
(splice acceptor variant +1 more)
Primary ciliary dyskinesia
GPathogenic
DNAAF4, DNAAF4-CCPG1
(E286*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary ciliary dyskinesia
GPathogenic
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