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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC40
(N396I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CCDC40
(R449*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
+1 more
GPathogenic
CCDC40
(E753fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 15
GLikely pathogenic
CCDC40
(E1032*)
Duplication
(nonsense)
Primary ciliary dyskinesia 15
GLikely pathogenic
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