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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFTR
Deletion
Cystic fibrosis
GPathogenic
CFTR
(W1282* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cystic fibrosis
GPathogenic
IVD
(R392H +3 more)
Single nucleotide variant
(missense variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GPathogenic/Likely pathogenic
CFTR, CFTR-AS1
(R117H)
Single nucleotide variant
(missense variant +1 more)
Cystic fibrosis
GPathogenic
CFTR
Single nucleotide variant
(intron variant)
Cystic fibrosis
GPathogenic
CFTR
Single nucleotide variant
(splice donor variant)
Cystic fibrosis
GPathogenic
CFTR
(K684fs)
Deletion
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR
Single nucleotide variant
(splice donor variant)
Cystic fibrosis
GPathogenic
CFTR, LOC113633877
Single nucleotide variant
(intron variant)
Cystic fibrosis
GPathogenic
CFTR
Deletion
(frameshift 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, LOC111674475
(R560T)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR, LOC111674475
Single nucleotide variant
(splice acceptor variant)
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
(A455E)
Single nucleotide variant
(missense variant)
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
(I507del)
Microsatellite
(inframe_deletion)
Cystic fibrosis
GPathogenic
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