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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFTR
(R117L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CFTR, CFTR-AS1
Deletion
(intron variant)
Cystic fibrosis
+7 more
GConflicting classifications of pathogenicity
CFTR
(W1282*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
GPathogenic
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