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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFTR, CFTR-AS1
(S422F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CFTR, CFTR-AS1
(T438A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CFTR, CFTR-AS1
(K464N)
Single nucleotide variant
(missense variant)
Cystic fibrosis
+1 more
GPathogenic/Likely pathogenic
CFTR, CFTR-AS1
Deletion
(inframe_deletion)
Cystic fibrosis
GPathogenic
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