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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAAF11
(W128fs +2 more)
Deletion
(frameshift variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic
DNAAF11
(K80fs +2 more)
Deletion
(frameshift variant +1 more)
Primary ciliary dyskinesia 19
GPathogenic
DNAAF11
(E111fs +2 more)
Duplication
(frameshift variant +1 more)
Primary ciliary dyskinesia 19
GPathogenic
DNAAF11
(Q192* +2 more)
Single nucleotide variant
(nonsense +1 more)
Primary ciliary dyskinesia 19
GPathogenic
DNAAF11
(D146H +2 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 19
+1 more
GPathogenic
DNAAF11
(A74P)
Single nucleotide variant
(missense variant +3 more)
Primary ciliary dyskinesia 19
GUncertain significance
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