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Links from PubMed

Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFTR
(W1282* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
+1 more
Deletion
(inframe_deletion +1 more)
Cystic fibrosis
GPathogenic
CFTR-AS1, CFTR
(A455V)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CFTR
(A1285V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
CFTR
(I125T)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CFTR
Single nucleotide variant
(splice donor variant)
Cystic fibrosis
GPathogenic
CFTR, LOC111674475
(S549R)
Single nucleotide variant
(missense variant)
Cystic fibrosis
+1 more
GPathogenic; drug response
CFTR, LOC113664106
(E60*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
GPathogenic
CFTR
(L1258fs)
Duplication
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR
Single nucleotide variant
(intron variant)
Cystic fibrosis
GPathogenic
CFTR
(K684fs)
Deletion
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR
Deletion
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR
Single nucleotide variant
(splice donor variant)
Cystic fibrosis
GPathogenic
CFTR
(R347H)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR, LOC113633877
Single nucleotide variant
(intron variant)
Cystic fibrosis
GPathogenic
CFTR
(G85E)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR
(N1303K)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR
(W1282*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
GPathogenic
CFTR, LOC111674475
(R553*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
GPathogenic
CFTR, LOC111674475
(G551D)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR, LOC111674475
(S549N)
Single nucleotide variant
(missense variant)
Cystic fibrosis
+1 more
GPathogenic; drug response
CFTR, LOC111674475
(G542*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
Deletion
(inframe_deletion)
Cystic fibrosis
GPathogenic
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