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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFTR, CFTR-AS1
Single nucleotide variant
(intron variant)
Cystic fibrosis
+2 more
GPathogenic/Likely pathogenic; other
CFTR, CFTR-AS1
(V456A)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
(G463D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CFTR, CFTR-AS1
Deletion
(inframe_deletion)
Cystic fibrosis
GPathogenic
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