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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC39
(Y742*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
CCDC39
(K415fs)
Indel
(frameshift variant)
Primary ciliary dyskinesia 14
GPathogenic
CCDC39
Deletion
(splice acceptor variant +1 more)
Primary ciliary dyskinesia 14
GPathogenic
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