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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAAF3
Single nucleotide variant
(stop lost)
Primary ciliary dyskinesia 2
+2 more
GUncertain significance
DNAAF3, DNAAF3-AS1
(G384* +3 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 2
GUncertain significance
DNAAF3, DNAAF3-AS1
+1 more
Deletion
(splice donor variant)
Primary ciliary dyskinesia 2
+2 more
GConflicting classifications of pathogenicity
DNAAF3, DNAAF3-AS1
(Q247* +3 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
+1 more
GPathogenic/Likely pathogenic
DNAAF3-AS1, DNAAF3
(T365M +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DNAAF3, DNAAF3-AS1
(G305A +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+2 more
GUncertain significance
DNAAF3, DNAAF3-AS1
(S8*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 2
GLikely pathogenic
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