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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFTR
(A120T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CFTR, CFTR-AS1
(F508C)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
+5 more
GConflicting classifications of pathogenicity
CFTR
(L967S)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
CFTR, LOC111674472
(L997F)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
CFTR
(M1137V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CFTR
(D1152H)
Single nucleotide variant
(missense variant)
ivacaftor response - Efficacy
Gdrug response
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