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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFTR
(M1T)
Single nucleotide variant
(missense variant +1 more)
Cystic fibrosis
+5 more
GPathogenic/Likely pathogenic
CFTR
Deletion
(nonsense)
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
(V456A)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
Deletion
(inframe_deletion)
Cystic fibrosis
GPathogenic
CFTR, LOC111674472
(S1118F)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
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