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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFTR
(R117H)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR
(L206W)
Single nucleotide variant
(missense variant)
ivacaftor response - Efficacy
+1 more
GPathogenic; drug response
CFTR
Single nucleotide variant
(splice acceptor variant)
Bronchiectasis with or without elevated sweat chloride 1
+3 more
GPathogenic/Likely pathogenic
CFTR
(S945L)
Single nucleotide variant
(missense variant)
ivacaftor response - Efficacy
+1 more
GPathogenic; drug response
CFTR
(N1303K)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
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