ClinVar for PubMed (Select 17331079) - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1320029	NM_000492.4(CFTR):c.[4C>T;7A>T]	CFTR (Q2* +1 more)	Single nucleotide variant (nonsense +1 more)	Cystic fibrosis	GPathogenic
Select item 993219	NM_000492.4(CFTR):c.3220T>C (p.Phe1074Leu)	LOC111674472, CFTR (F1074L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 977735	NM_000492.4(CFTR):c.[220C>T;3808G>A]	CFTR (D1270N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 916697	NM_000492.4(CFTR):c.[1727G>C;2002C>T]	CFTR (G576A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 870319	NM_000492.3(CFTR):c.[1327G>T;1727G>C;2002C>T]	CFTR, CFTR-AS1 (G576A +2 more)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 658988	NC_000007.14:g.(?_117610509)_(117614723_?)del	CFTR, LOC111674472	Deletion	Cystic fibrosis	GPathogenic
Select item 632759	NM_000492.4(CFTR):c.3717+1G>A	CFTR	Single nucleotide variant (splice donor variant)	not specified +1 more	GPathogenic/Likely pathogenic
Select item 370075	NM_000492.4(CFTR):c.3536_3539del (p.Thr1179fs)	CFTR (T1179fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 196277	NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)	CFTR (R74W)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 54081	NM_000492.4(CFTR):c.88C>T (p.Gln30Ter)	CFTR (Q30*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 54066	NM_000492.4(CFTR):c.833AAG[1] (p.Glu279del)	CFTR (E279del)	Microsatellite (inframe_deletion)	Cystic fibrosis	Gnot provided
Select item 54041	NM_000492.4(CFTR):c.695T>A (p.Val232Asp)	CFTR (V232D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 54018	NM_000492.4(CFTR):c.595C>T (p.His199Tyr)	CFTR (H199Y)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 54014	NM_000492.4(CFTR):c.580-1G>T	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 54011	NM_000492.4(CFTR):c.579+3A>T	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	Gnot provided
Select item 53980	NM_000492.4(CFTR):c.4C>T (p.Gln2Ter)	CFTR (Q2*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53962	NM_000492.4(CFTR):c.476T>C (p.Leu159Ser)	CFTR (L159S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 53901	NM_000492.4(CFTR):c.4143C>A (p.Tyr1381Ter)	CFTR (Y1381*)	Single nucleotide variant (nonsense)	Cystic fibrosis	Gnot provided
Select item 53862	NM_000492.4(CFTR):c.3963+2T>A	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 53854	NM_000492.4(CFTR):c.3922G>T (p.Glu1308Ter)	CFTR (E1308*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GLikely pathogenic
Select item 53844	NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile)	CFTR (T1299I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 53836	NM_000492.4(CFTR):c.387del (p.Leu130fs)	CFTR (L130fs)	Deletion (frameshift variant)	Cystic fibrosis	Gnot provided
Select item 53819	NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter)	CFTR (Q1281*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 53805	NM_000492.4(CFTR):c.3761T>G (p.Leu1254Ter)	CFTR (L1254*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53798	NM_000492.4(CFTR):c.3731G>T (p.Gly1244Val)	CFTR (G1244V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 53743	NM_000492.4(CFTR):c.342GGA[1] (p.Glu116del)	CFTR (E116del)	Microsatellite (inframe_deletion)	Cystic fibrosis	Gnot provided
Select item 53711	NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)	CFTR, LOC111674472 (Q1100P)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 53688	NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)	CFTR, LOC111674472 (F1074L)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 53685	NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)	CFTR, LOC111674472 (R1070W)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 53676	NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg)	CFTR, LOC111674472 (L1065R)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 53638	NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys)	CFTR, LOC111674472	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 53630	NM_000492.4(CFTR):c.3023T>A (p.Val1008Asp)	CFTR, LOC111674472 (V1008D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 53627	NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu)	CFTR, LOC111674472 (A1006E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53613	NM_000492.4(CFTR):c.2989-1G>A	CFTR, LOC111674472	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 53606	NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)	CFTR (Q98R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53565	NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn)	CFTR (D924N)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 53529	NM_000492.4(CFTR):c.2620-26A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 53525	NM_000492.4(CFTR):c.2619+3A>G	CFTR	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 53511	NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu)	CFTR (R851L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 53494	NM_000492.4(CFTR):c.2472del (p.Asn825fs)	CFTR (N825fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GPathogenic
Select item 53435	NM_000492.4(CFTR):c.2074G>T (p.Glu692Ter)	CFTR (E692*)	Single nucleotide variant (nonsense)	Cystic fibrosis	Gnot provided
Select item 53427	NM_000492.4(CFTR):c.2017G>T (p.Gly673Ter)	CFTR (G673*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53415	NM_000492.4(CFTR):c.1919_1920del (p.Asp639_Phe640insTer)	CFTR	Deletion (nonsense)	Cystic fibrosis	Gnot provided
Select item 53396	NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del)	CFTR	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 53386	NM_000492.4(CFTR):c.178G>A (p.Glu60Lys)	CFTR, LOC113664106 (E60K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53370	NM_000492.4(CFTR):c.1745C>G (p.Thr582Arg)	CFTR (T582R)	Single nucleotide variant (missense variant)	Cystic fibrosis	Gnot provided
Select item 53356	NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser)	CFTR (L571S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 53355	NM_000492.4(CFTR):c.170G>A (p.Trp57Ter)	CFTR, LOC113664106 (W57*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53330	NM_000492.4(CFTR):c.1678A>G (p.Arg560Gly)	CFTR, LOC111674475 (R560G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 53308	NM_000492.4(CFTR):c.164+4dup	CFTR	Duplication (intron variant)	Cystic fibrosis	GPathogenic
Select item 53297	NM_000492.4(CFTR):c.1606A>T (p.Lys536Ter)	CFTR, LOC111674475 (K536*)	Single nucleotide variant (nonsense)	Cystic fibrosis	Gnot provided
Select item 53266	NM_000492.4(CFTR):c.148T>C (p.Ser50Pro)	CFTR (S50P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53251	NM_000492.4(CFTR):c.1418del (p.Gly473fs)	CFTR, CFTR-AS1	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53215	NM_000492.4(CFTR):c.1209G>A (p.Glu403=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 53210	NM_000492.4(CFTR):c.1196C>A (p.Ala399Asp)	CFTR (A399D)	Single nucleotide variant (missense variant)	Cystic fibrosis	Gnot provided
Select item 53187	NM_000492.4(CFTR):c.1094T>C (p.Leu365Pro)	CFTR (L365P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 53184	NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg)	CFTR (W361R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 53183	NM_000492.4(CFTR):c.1081T>A (p.Trp361Arg)	CFTR (W361R)	Single nucleotide variant (missense variant)	Cystic fibrosis	Gnot provided
Select item 53158	NM_000492.4(CFTR):c.-9_14del (p.Met1fs)	LOC111674463, CFTR (M1fs)	Deletion (frameshift variant +1 more)	Cystic fibrosis	GPathogenic
Select item 48681	NM_000492.4(CFTR):c.1680-1G>A	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 48680	NM_000492.4(CFTR):c.274-1G>A	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 35830	NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)	CFTR (V562I)	Single nucleotide variant (missense variant)	CFTR-related condition +5 more	GConflicting classifications of pathogenicity
Select item 35829	NM_000492.4(CFTR):c.1673T>C (p.Leu558Ser)	CFTR, LOC111674475 (L558S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 35824	NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)	CFTR (P5L)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GConflicting classifications of pathogenicity
Select item 7240	NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu)	CFTR (A561E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7239	NM_000492.3(CFTR):c.[2735C>T;3731G>T]	CFTR (S912L +1 more)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7219	NM_000492.4(CFTR):c.1477_1478del (p.Gln493fs)	CFTR, CFTR-AS1 (Q493fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 7210	NM_000492.4(CFTR):c.3254A>G (p.His1085Arg)	CFTR, LOC111674472 (H1085R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 7203	NM_000492.4(CFTR):c.2128A>T (p.Lys710Ter)	CFTR (K710*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7180	NM_000492.4(CFTR):c.3937C>T (p.Gln1313Ter)	CFTR (Q1313*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7179	NM_000492.4(CFTR):c.171G>A (p.Trp57Ter)	LOC113664106, CFTR (W57*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7165	NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)	CFTR (G576A)	Single nucleotide variant (missense variant)	CFTR-related condition +5 more	GConflicting classifications of pathogenicity
Select item 7164	NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)	CFTR (D1270N)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 7162	NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)	CFTR, LOC111674472 (R1066C)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7158	NM_000492.4(CFTR):c.3197G>A (p.Arg1066His)	CFTR, LOC111674472 (R1066H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7149	NM_000492.4(CFTR):c.2737_2738insG (p.Tyr913Ter)	CFTR (Y913*)	Insertion (nonsense)	Cystic fibrosis	GPathogenic
Select item 7143	NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)	CFTR (G85E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7141	NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter)	CFTR (R851*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic

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Items: 78