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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKAR1B, DNAAF5
+1 more
(W73S)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DNAAF5
(R263Q)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DNAAF5
(V268M)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
DNAAF5
Single nucleotide variant
(splice donor variant)
Primary ciliary dyskinesia
+1 more
GLikely pathogenic
DNAAF5
(R496H)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
DNAAF5
(R560H)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 18
+1 more
GUncertain significance
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