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Items: 1 to 100 of 362

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFTR, LOC111674463
Single nucleotide variant
not specified
+2 more
GConflicting classifications of pathogenicity
CFTR, LOC111674463
Single nucleotide variant
CFTR-related condition
+3 more
GConflicting classifications of pathogenicity
CFTR, LOC111674463
Single nucleotide variant
not provided
+2 more
GConflicting classifications of pathogenicity
LOC111674463, CFTR
Single nucleotide variant
not specified
+3 more
GBenign/Likely benign
LOC111674463, CFTR
Single nucleotide variant
not provided
+1 more
GConflicting classifications of pathogenicity
CFTR, LOC111674463
Single nucleotide variant
not provided
+1 more
GUncertain significance
CFTR, LOC111674463
Single nucleotide variant
Cystic fibrosis
+1 more
GUncertain significance
CFTR, LOC111674463
Single nucleotide variant
(5 prime UTR variant)
CFTR-related disorders
+4 more
GBenign/Likely benign
LOC111674463, CFTR
Single nucleotide variant
CFTR-related condition
+3 more
GBenign/Likely benign
CFTR
(P5L)
Single nucleotide variant
(missense variant)
Cystic fibrosis
+4 more
GConflicting classifications of pathogenicity
CFTR
(E7*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CFTR
(K14E)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
CFTR
(W19fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
CFTR
(R31C)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
CFTR
(R31L)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(L32M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CFTR
(I37V)
Single nucleotide variant
(missense variant)
Cystic fibrosis
+1 more
GUncertain significance
CFTR
(S42F)
Single nucleotide variant
(missense variant)
CFTR-related condition
+7 more
GUncertain significance
CFTR
(A46V)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
CFTR
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CFTR
Single nucleotide variant
(intron variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC113664106
Single nucleotide variant
(splice acceptor variant)
Cystic fibrosis
GPathogenic
CFTR, LOC113664106
(E60D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CFTR
(P67L)
Single nucleotide variant
(missense variant)
Cystic fibrosis
+1 more
GPathogenic; drug response
CFTR
(K68E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CFTR
(R74W)
Single nucleotide variant
(missense variant)
ivacaftor response - Efficacy
Gdrug response
CFTR
(R74Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CFTR
(R75Q)
Single nucleotide variant
(missense variant)
CFTR-related disorders
+4 more
GConflicting classifications of pathogenicity
CFTR
(C76S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CFTR
(W79fs)
Duplication
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR
(Y84H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CFTR
(G85E)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
CFTR
Single nucleotide variant
(splice acceptor variant)
Cystic fibrosis
GPathogenic
CFTR
(I106V)
Single nucleotide variant
(missense variant)
CFTR-related condition
+2 more
GUncertain significance
CFTR
(D110E)
Single nucleotide variant
(missense variant)
ivacaftor response - Efficacy
Gdrug response
CFTR
(P111R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFTR
(P111L)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
CFTR
(R117C)
Single nucleotide variant
(missense variant)
Cystic fibrosis
+1 more
GPathogenic; drug response
CFTR
(R117H)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
CFTR
(I125T)
Single nucleotide variant
(missense variant)
CFTR-related condition
+4 more
GConflicting classifications of pathogenicity
CFTR
(G126V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CFTR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CFTR
(T135A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFTR
(H139P)
Single nucleotide variant
(missense variant)
Congenital bilateral aplasia of vas deferens from CFTR mutation
+4 more
GUncertain significance
CFTR
(P140S)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 1
+7 more
GUncertain significance
CFTR
(I148fs)
Deletion
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR
(I148N)
Single nucleotide variant
(missense variant)
Cystic fibrosis
+3 more
GConflicting classifications of pathogenicity
CFTR
(I148T)
Single nucleotide variant
(missense variant)
CFTR-related disorders
+3 more
GConflicting classifications of pathogenicity
CFTR
(Q151K)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
CFTR
Single nucleotide variant
(splice donor variant)
Cystic fibrosis
GPathogenic
CFTR
Single nucleotide variant
(intron variant)
not specified
+6 more
GConflicting classifications of pathogenicity
CFTR
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CFTR
Single nucleotide variant
(intron variant)
Hereditary pancreatitis
+4 more
GConflicting classifications of pathogenicity
CFTR
(R170H)
Single nucleotide variant
(missense variant)
Chronic pancreatitis
+7 more
GConflicting classifications of pathogenicity
CFTR
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
+1 more
GConflicting classifications of pathogenicity
CFTR
(F191V)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR
(E193*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
GPathogenic
CFTR
Single nucleotide variant
(splice donor variant)
Cystic fibrosis
GPathogenic
CFTR
(G194V)
Single nucleotide variant
(missense variant)
CFTR-related disorders
+4 more
GConflicting classifications of pathogenicity
CFTR
(A198P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CFTR
(A198T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
CFTR
(V201M)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(P205S)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR
(L206W)
Single nucleotide variant
(missense variant)
Cystic fibrosis
+1 more
GPathogenic; drug response
CFTR
(W216C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CFTR
(E217G)
Single nucleotide variant
(missense variant)
CFTR-related disorders
+3 more
GConflicting classifications of pathogenicity
CFTR
Single nucleotide variant
(synonymous variant)
CFTR-related condition
+3 more
GConflicting classifications of pathogenicity
CFTR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CFTR
(V232D)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR
(Q237R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFTR
(G239R)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
CFTR
Single nucleotide variant
(synonymous variant)
CFTR-related condition
+3 more
GLikely benign
CFTR
Single nucleotide variant
(splice donor variant)
Bronchiectasis with or without elevated sweat chloride 1
+2 more
GPathogenic
CFTR
Microsatellite
(intron variant)
not specified
+2 more
GBenign/Likely benign
CFTR
(R258G)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
CFTR
(N268fs)
Deletion
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR
(I269T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CFTR
(E279D)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
CFTR
(M284fs)
Duplication
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR
(E282D)
Single nucleotide variant
(missense variant)
CFTR-related condition
+3 more
GUncertain significance
CFTR
(K283fs)
Indel
(frameshift variant)
not provided
GPathogenic
CFTR
(I285F)
Single nucleotide variant
(missense variant)
CFTR-related condition
+6 more
GBenign/Likely benign
CFTR
(N287K)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
CFTR
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CFTR
Single nucleotide variant
(intron variant)
CFTR-related disorders
+3 more
GBenign
CFTR
Deletion
(intron variant)
CFTR-related condition
+3 more
GConflicting classifications of pathogenicity
CFTR
(R297Q)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CFTR
(Y301C)
Single nucleotide variant
(missense variant)
CFTR-related disorders
+6 more
GUncertain significance
CFTR
(A309G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CFTR
(F312del)
Microsatellite
(inframe_deletion)
Cystic fibrosis
+3 more
GPathogenic/Likely pathogenic
CFTR
(F315S)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
CFTR
Deletion
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR
(F316L)
Single nucleotide variant
(missense variant)
CFTR-related condition
+3 more
GUncertain significance
CFTR
(L320V)
Single nucleotide variant
(missense variant)
CFTR-related condition
+7 more
GConflicting classifications of pathogenicity
CFTR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CFTR
(Y325C)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
CFTR
(R334Q)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
CFTR
(I336K)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
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