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Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFTR
Duplication
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
Microsatellite
(nonsense)
Cystic fibrosis
GPathogenic
CFTR
(W277*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
GPathogenic
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, CFTR-AS1
+1 more
(S466* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cystic fibrosis
GPathogenic
CFTR, LOC111674472
(T1036I)
Single nucleotide variant
(missense variant)
Cystic fibrosis
+2 more
GPathogenic/Likely pathogenic
CFTR
(P205T)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR
(T360K)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CFTR
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
CFTR, CFTR-AS1
(R117H)
Single nucleotide variant
(missense variant +1 more)
Cystic fibrosis
GPathogenic
CFTR
Single nucleotide variant
(splice acceptor variant)
Cystic fibrosis
GPathogenic
CFTR
Single nucleotide variant
(splice donor variant)
Cystic fibrosis
GPathogenic
CFTR
(A141D)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GConflicting classifications of pathogenicity
CFTR
Duplication
(inframe_insertion)
Cystic fibrosis
GPathogenic
CFTR
(I1295fs)
Deletion
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR
(W1282R)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 1
+1 more
GPathogenic
CFTR, LOC111674472
(T1036N)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR
(D979V)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR
(S945L)
Single nucleotide variant
(missense variant)
ivacaftor response - Efficacy
+1 more
GPathogenic; drug response
CFTR
(D806G)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
CFTR
Indel
(missense variant)
Bronchiectasis with or without elevated sweat chloride 1
+1 more
GPathogenic
CFTR
Single nucleotide variant
(nonsense)
Cystic fibrosis
GPathogenic
CFTR
(Q359K +1 more)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR
Single nucleotide variant
(splice donor variant)
Cystic fibrosis
GPathogenic
CFTR
(K684fs)
Indel
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
(S466*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
GPathogenic
CFTR
(E217G)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CFTR
Single nucleotide variant
(splice donor variant)
Cystic fibrosis
GPathogenic
CFTR
(T1179fs)
Duplication
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
Single nucleotide variant
(missense variant)
Congenital bilateral aplasia of vas deferens from CFTR mutation
+2 more
GPathogenic/Likely pathogenic
CFTR
(Q359K)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CFTR
Single nucleotide variant
(splice donor 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
(G542*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
GPathogenic
CFTR
(R347P)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR
(R117H)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
Deletion
(inframe_deletion)
Cystic fibrosis
GPathogenic
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