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Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFTR, LOC111674463
Single nucleotide variant
Cystic fibrosis
+2 more
GConflicting classifications of pathogenicity
CFTR
(L15H)
Single nucleotide variant
(missense variant)
Congenital bilateral aplasia of vas deferens from CFTR mutation
+1 more
GConflicting classifications of pathogenicity
CFTR
(R117H)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR
(T135S)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
Single nucleotide variant
(splice donor variant)
Cystic fibrosis
GPathogenic
CFTR
Single nucleotide variant
(intron variant)
Bronchiectasis with or without elevated sweat chloride 1
+5 more
GConflicting classifications of pathogenicity
CFTR
(L233F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CFTR
(R297Q)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CFTR, CFTR-AS1
(A457T)
Single nucleotide variant
(missense variant)
Congenital bilateral aplasia of vas deferens from CFTR mutation
GUncertain significance
CFTR-AS1, CFTR
(S466*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
(M469V)
Single nucleotide variant
(missense variant)
Cystic fibrosis
+2 more
GConflicting classifications of pathogenicity
CFTR, CFTR-AS1
(Q493*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
Deletion
(inframe_deletion)
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
(T582S)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
+2 more
GUncertain significance
CFTR
(M645T)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
+2 more
GUncertain significance
CFTR
(K684fs)
Deletion
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR
(D836Y)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
+3 more
GConflicting classifications of pathogenicity
CFTR
(I864fs)
Deletion
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR
(Y919C)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 1
+5 more
GUncertain significance
CFTR
(M952I)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
CFTR
(L967S)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
+5 more
GConflicting classifications of pathogenicity
CFTR, LOC111674472
(L1040F)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
+1 more
GUncertain significance
CFTR, LOC111674472
(F1052V)
Single nucleotide variant
(missense variant)
ivacaftor response - Efficacy
Gdrug response
CFTR, LOC111674472
(H1085R)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic/Likely pathogenic
CFTR, LOC111674472
(T1086A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CFTR
(S1235R)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
CFTR
(N1303K)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR
(D1312G)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
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