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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAAF2
Microsatellite
(nonsense +1 more)
Primary ciliary dyskinesia 10
+1 more
GConflicting classifications of pathogenicity
DNAAF2, LOC130055542
(E387fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia
+1 more
GPathogenic/Likely pathogenic
DNAAF2
(D328N)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DNAAF2
(F160fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 10
+1 more
GPathogenic
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