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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFTR, CFTR-AS1
Single nucleotide variant
(intron variant)
Bronchiectasis with or without elevated sweat chloride 1
+7 more
GBenign/Likely benign
CFTR, CFTR-AS1
Duplication
(intron variant)
not provided
+3 more
GBenign/Likely benign
CFTR, CFTR-AS1
(A455E)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
Deletion
(inframe_deletion)
Cystic fibrosis
GPathogenic
CFTR
Single nucleotide variant
(intron variant)
Cystic fibrosis
GPathogenic
CFTR
(V754M)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
CFTR
(F834L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
CFTR, LOC111674472
(L997F)
Single nucleotide variant
(missense variant)
CFTR-related disorder
+4 more
GConflicting classifications of pathogenicity
CFTR
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CFTR
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
CFTR
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign/Likely benign
CFTR, LOC111674477
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
CFTR, LOC111674477
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
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