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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HFE, HFE-AS1
(H63D +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hemochromatosis type 1
+9 more
GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other
CFTR, LOC113664106
+1 more
Deletion
Cystic fibrosis
GPathogenic
CFTR
(R75Q)
Single nucleotide variant
(missense variant)
CFTR-related disorders
+4 more
GConflicting classifications of pathogenicity
CFTR
(G85E)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR
(R117H)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR
Single nucleotide variant
(splice donor variant)
Cystic fibrosis
GPathogenic
CFTR
Single nucleotide variant
(splice donor variant)
Cystic fibrosis
GPathogenic
CFTR
(R334W)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR
(R347P)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
Duplication
(intron variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
CFTR, CFTR-AS1
Deletion
(intron variant)
CFTR-related disorders
+7 more
GConflicting classifications of pathogenicity
CFTR-AS1, CFTR
Microsatellite
(intron variant)
Cystic fibrosis
GBenign
CFTR, CFTR-AS1
(A455E)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
(I507del)
Microsatellite
(inframe_deletion)
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
Deletion
(inframe_deletion)
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
Single nucleotide variant
(synonymous variant)
CFTR-related condition
+6 more
GConflicting classifications of pathogenicity
CFTR, LOC111674475
Single nucleotide variant
(splice acceptor variant)
Cystic fibrosis
GPathogenic
CFTR, LOC111674475
(G542*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
GPathogenic
CFTR, LOC111674475
(G551D)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR, LOC111674475
(R553*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
GPathogenic
CFTR, LOC111674475
(R560T)
Single nucleotide variant
(missense 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
(intron variant)
Cystic fibrosis
GPathogenic
CFTR
Single nucleotide variant
(splice donor variant)
Cystic fibrosis
GPathogenic
CFTR
(R1162*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
GPathogenic
CFTR
(K1177fs)
Deletion
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR, LOC113633877
Single nucleotide variant
(intron variant)
Cystic fibrosis
GPathogenic
CFTR
(W1282*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
GPathogenic
CFTR
Single nucleotide variant
(synonymous variant)
CFTR-related disorders
+3 more
GBenign
CFTR
(N1303K)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
SERPINA1
(E288V)
Single nucleotide variant
(missense variant)
SERPINA1-related condition
+4 more
GPathogenic/Pathogenic, low penetrance; other
CFTR
Microsatellite
Cystic fibrosis
Gnot provided
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