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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC40
(A83fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 15
+2 more
GPathogenic
CCDC40
(Q439*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40
(R449*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
+1 more
GPathogenic
CCDC40
(Q651*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
GPathogenic
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