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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFTR, CFTR-AS1
Deletion
(intron variant)
not specified
+2 more
GUncertain significance
CFTR, CFTR-AS1
Deletion
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
(P439S)
Single nucleotide variant
(missense variant)
Cystic fibrosis
+2 more
GConflicting classifications of pathogenicity
CFTR, CFTR-AS1
(V456A)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
(T465N)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 1
+3 more
GConflicting classifications of pathogenicity
CFTR, CFTR-AS1
(L467F)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 1
+3 more
GConflicting classifications of pathogenicity
CFTR, CFTR-AS1
(L467P)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR-AS1, CFTR
Deletion
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
(G480D)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 1
+2 more
GPathogenic/Likely pathogenic
CFTR, CFTR-AS1
(H484R)
Single nucleotide variant
(missense variant)
Cystic fibrosis
+2 more
GUncertain significance
CFTR, CFTR-AS1
(S485T)
Single nucleotide variant
(missense variant)
Cystic fibrosis
+3 more
GUncertain significance
CFTR, CFTR-AS1
(C491F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CFTR, CFTR-AS1
(Q493*)
Single nucleotide variant
(nonsense)
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
(Y515fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CFTR, CFTR-AS1
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
CFTR, CFTR-AS1
(I521M)
Single nucleotide variant
(missense variant)
Cystic fibrosis
+1 more
GUncertain significance
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