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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC40
(M1I)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40
(R942fs)
Insertion
(frameshift variant)
Primary ciliary dyskinesia 15
+2 more
GPathogenic