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Items: 64

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFTR, LOC111674463
Single nucleotide variant
(5 prime UTR variant)
CFTR-related disorder
+4 more
GBenign/Likely benign
CFTR, LOC113664106
Single nucleotide variant
(splice acceptor variant)
Cystic fibrosis
GPathogenic
CFTR
(R74W)
Single nucleotide variant
(missense variant)
ivacaftor response - Efficacy
Gdrug response
CFTR
(R75Q)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
+4 more
GConflicting classifications of pathogenicity
CFTR
Single nucleotide variant
(intron variant)
CFTR-related disorder
+4 more
GConflicting classifications of pathogenicity
CFTR
(R117H)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR
Single nucleotide variant
(intron variant)
Cystic fibrosis
+1 more
GConflicting classifications of pathogenicity
CFTR
Microsatellite
(intron variant)
not specified
+2 more
GBenign
CFTR
(R258G)
Single nucleotide variant
(missense variant)
Congenital bilateral aplasia of vas deferens from CFTR mutation
+5 more
GConflicting classifications of pathogenicity
CFTR
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
CFTR
(R297Q)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CFTR
(V322M)
Single nucleotide variant
(missense variant)
Cystic fibrosis
+1 more
GUncertain significance
CFTR, CFTR-AS1
Microsatellite
(intron variant)
Congenital bilateral aplasia of vas deferens from CFTR mutation
+5 more
GBenign
CFTR, CFTR-AS1
Microsatellite
(intron variant)
not provided
+3 more
GBenign/Likely benign
CFTR, CFTR-AS1
Single nucleotide variant
(intron variant)
CFTR-related disorder
+7 more
GBenign/Likely benign
CFTR, CFTR-AS1
Duplication
(intron variant)
Cystic fibrosis
+3 more
GBenign/Likely benign
CFTR, CFTR-AS1
Deletion
(intron variant)
not provided
+6 more
GConflicting classifications of pathogenicity
CFTR, CFTR-AS1
Single nucleotide variant
(intron variant)
Cystic fibrosis
+2 more
GPathogenic/Likely pathogenic; other
CFTR, CFTR-AS1
(G424S)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 1
+5 more
GUncertain significance
CFTR, CFTR-AS1
(D443Y)
Single nucleotide variant
(missense variant)
Cystic fibrosis
+6 more
GConflicting classifications of pathogenicity
CFTR, CFTR-AS1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CFTR, CFTR-AS1
(V456A)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
Single nucleotide variant
(splice acceptor variant)
Cystic fibrosis
GPathogenic
CFTR-AS1, CFTR
(S466*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
(V470M)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
CFTR, CFTR-AS1
Deletion
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
Deletion
(inframe_deletion)
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
(F508C)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
+5 more
GConflicting classifications of pathogenicity
CFTR, CFTR-AS1
Single nucleotide variant
(synonymous variant)
Hereditary pancreatitis
+4 more
GBenign/Likely benign
CFTR, CFTR-AS1
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GConflicting classifications of pathogenicity
CFTR, LOC111674475
(G551D)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR, LOC111674475
Single nucleotide variant
(intron variant)
Cystic fibrosis
GLikely benign
CFTR
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
CFTR
Indel
(intron variant)
Cystic fibrosis
GLikely benign
CFTR
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
CFTR
(V562L)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 1
+5 more
GUncertain significance
CFTR
(G576A)
Single nucleotide variant
(missense variant)
CFTR-related disorder
+4 more
GConflicting classifications of pathogenicity
CFTR
Single nucleotide variant
(intron variant)
Cystic fibrosis
GPathogenic
CFTR
(G622D)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
+5 more
GConflicting classifications of pathogenicity
CFTR
(Q637fs)
Deletion
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR
(R668C)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
+6 more
GConflicting classifications of pathogenicity
CFTR
(E726fs)
Duplication
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR
(D836Y)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CFTR
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
CFTR
Single nucleotide variant
(intron variant)
Cystic fibrosis
GPathogenic
CFTR
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
CFTR
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CFTR
(G970D)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR, LOC111674472
Single nucleotide variant
(splice acceptor variant)
Cystic fibrosis
GPathogenic
CFTR, LOC111674472
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
+1 more
GLikely benign
CFTR, LOC111674472
(R1070W)
Single nucleotide variant
(missense variant)
ivacaftor response - Efficacy
Gdrug response
CFTR, LOC111674472
(K1080Q)
Single nucleotide variant
(missense variant)
Cystic fibrosis
+2 more
GUncertain significance
LOC111674472, CFTR
Single nucleotide variant
(synonymous variant)
CFTR-related disorder
+4 more
GConflicting classifications of pathogenicity
CFTR
(K1177fs)
Deletion
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR
(Y1182*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
GLikely pathogenic
CFTR
(S1235R)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
CFTR, LOC113633877
Single nucleotide variant
(intron variant)
Cystic fibrosis
GPathogenic
CFTR
(D1270N)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
+4 more
GConflicting classifications of pathogenicity
CFTR
(W1282*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
GPathogenic
CFTR
Single nucleotide variant
(synonymous variant)
CFTR-related disorder
+3 more
GBenign
CFTR
Single nucleotide variant
(synonymous variant)
CFTR-related disorder
+4 more
GConflicting classifications of pathogenicity
CFTR
(D1377N)
Single nucleotide variant
(missense variant)
Cystic fibrosis
+2 more
GUncertain significance
CFTR
Single nucleotide variant
(intron variant)
CFTR-related disorder
+4 more
GBenign/Likely benign
CFTR, LOC111674477
Single nucleotide variant
(synonymous variant)
CFTR-related disorder
+4 more
GBenign/Likely benign
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