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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAAF3
(P577L +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DNAAF3, DNAAF3-AS1
+1 more
(T398I +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 2
+1 more
GBenign/Likely benign
DNAAF3, DNAAF3-AS1
(A230D +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DNAAF3, DNAAF3-AS1
(L207P +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 2
+1 more
GUncertain significance
DNAAF3, DNAAF3-AS1
(W185* +3 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 2
+1 more
GPathogenic
DNAAF3-AS1, DNAAF3
(R136* +3 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
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