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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC40
(T100fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 15
GLikely pathogenic
CCDC40
(E603K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40
(E959*)
Single nucleotide variant
(nonsense +1 more)
Primary ciliary dyskinesia 15
GLikely pathogenic
CCDC40
(G962W)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40
(Q992fs)
Duplication
(frameshift variant +1 more)
Primary ciliary dyskinesia 15
GLikely pathogenic
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