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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFTR
(R31C)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
CFTR, CFTR-AS1
Deletion
(inframe_deletion)
Cystic fibrosis
GPathogenic
CFTR
(R668C)
Single nucleotide variant
(missense variant)
CFTR-related condition
+7 more
GConflicting classifications of pathogenicity
CFTR
(S1235R)
Single nucleotide variant
(missense variant)
CFTR-related disorders
+4 more
GConflicting classifications of pathogenicity
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