C5924204[trait identifier] AND "CFTR-France"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93148	NM_000492.4(CFTR):c.-8G>C	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	CFTR-related disorder +4 more	GBenign/Likely benign
Select item 53423	NM_000492.4(CFTR):c.1A>G (p.Met1Val)	CFTR (M1V)	Single nucleotide variant (missense variant +1 more)	Cystic fibrosis	GPathogenic
Select item 53622	NM_000492.4(CFTR):c.2T>C (p.Met1Thr)	CFTR (M1T)	Single nucleotide variant (missense variant +1 more)	Cystic fibrosis +4 more	GPathogenic/Likely pathogenic
Select item 53211	NM_000492.4(CFTR):c.11C>A (p.Ser4Ter)	CFTR (S4*)	Single nucleotide variant (nonsense)	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	GPathogenic/Likely pathogenic
Select item 53988	NM_000492.4(CFTR):c.53+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 818160	NM_000492.4(CFTR):c.54-4235_164+377dup	CFTR	Duplication (splice acceptor variant +1 more)	CFTR-related disorder +1 more	GPathogenic
Select item 54061	NM_000492.4(CFTR):c.79G>T (p.Gly27Ter)	CFTR (G27*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53317	NM_000492.4(CFTR):c.165-3C>T	CFTR, LOC113664106	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 53315	NM_000492.4(CFTR):c.165-2A>G	CFTR, LOC113664106	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis +1 more	GPathogenic
Select item 53325	NM_000492.4(CFTR):c.166G>A (p.Glu56Lys)	CFTR, LOC113664106 (E56K)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 53343	NM_000492.4(CFTR):c.168del (p.Glu56fs)	CFTR, LOC113664106 (E56fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53347	NM_000492.4(CFTR):c.169T>G (p.Trp57Gly)	LOC113664106, CFTR (W57G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53355	NM_000492.4(CFTR):c.170G>A (p.Trp57Ter)	CFTR, LOC113664106 (W57*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7179	NM_000492.4(CFTR):c.171G>A (p.Trp57Ter)	CFTR, LOC113664106 (W57*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53373	NM_000492.4(CFTR):c.174_177del (p.Asp58fs)	CFTR, LOC113664106 (D58fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 487400	NM_000492.4(CFTR):c.175dup (p.Arg59fs)	CFTR, LOC113664106 (R59fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 38730	NM_000492.4(CFTR):c.178G>T (p.Glu60Ter)	CFTR, LOC113664106 (E60*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53425	NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)	CFTR (P67L)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 48672	NM_000492.4(CFTR):c.223C>T (p.Arg75Ter)	CFTR (R75*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 35839	NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)	CFTR (R75Q)	Single nucleotide variant (missense variant)	CFTR-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 53475	NM_000492.4(CFTR):c.233dup (p.Trp79fs)	CFTR (W79fs)	Duplication (frameshift variant)	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 7232	NM_000492.4(CFTR):c.262_263del (p.Leu88fs)	CFTR (L88fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53534	NM_000492.4(CFTR):c.263T>G (p.Leu88Ter)	CFTR (L88*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7183	NM_000492.4(CFTR):c.271G>A (p.Gly91Arg)	CFTR (G91R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53549	NM_000492.4(CFTR):c.273+1G>A	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 53556	NM_000492.4(CFTR):c.274-2A>G	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 7186	NM_000492.4(CFTR):c.274G>T (p.Glu92Ter)	CFTR (E92*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7181	NM_000492.4(CFTR):c.274G>A (p.Glu92Lys)	CFTR (E92K)	Single nucleotide variant (missense 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 1704257	NM_000492.4(CFTR):c.296C>G (p.Pro99Arg)	CFTR (P99R)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic
Select item 53610	NM_000492.4(CFTR):c.296C>T (p.Pro99Leu)	CFTR (P99L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 1704259	NM_000492.4(CFTR):c.308del (p.Gly103fs)	CFTR (G103fs)	Deletion (frameshift variant)	Cystic fibrosis +2 more	GPathogenic/Likely pathogenic
Select item 53692	NM_000492.4(CFTR):c.323C>T (p.Ser108Phe)	CFTR (S108F)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 7108	NM_000492.4(CFTR):c.328G>C (p.Asp110His)	CFTR (D110H)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy +1 more	GPathogenic; drug response
Select item 53714	NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)	CFTR (D110E)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 53718	NM_000492.4(CFTR):c.331C>G (p.Pro111Ala)	CFTR (P111A)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 53720	NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)	CFTR (P111L)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GConflicting classifications of pathogenicity
Select item 53754	NM_000492.4(CFTR):c.346G>A (p.Glu116Lys)	CFTR (E116K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53762	NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)	CFTR (R117G)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GPathogenic/Likely pathogenic
Select item 48688	NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)	CFTR (R117C)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 7109	NM_000492.4(CFTR):c.350G>A (p.Arg117His)	CFTR (R117H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 38833	NM_000492.4(CFTR):c.366T>A (p.Tyr122Ter)	CFTR (Y122*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53812	NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)	CFTR (G126D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 1704256	NM_000492.4(CFTR):c.433C>G (p.Leu145Val)	CFTR (L145V)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic
Select item 53948	NM_000492.4(CFTR):c.442del (p.Ile148fs)	CFTR (I148fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 38850	NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)	CFTR (I148T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 38799	NM_000492.4(CFTR):c.489+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 53971	NM_000492.4(CFTR):c.489+3A>G	CFTR	Single nucleotide variant (intron variant)	Hereditary pancreatitis +5 more	GConflicting classifications of pathogenicity
Select item 818151	NM_000492.4(CFTR):c.490-3T>G	CFTR	Single nucleotide variant (intron variant)	CFTR-related disorder	GPathogenic
Select item 53976	NM_000492.4(CFTR):c.494T>C (p.Leu165Ser)	CFTR (L165S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53983	NM_000492.4(CFTR):c.509G>A (p.Arg170His)	CFTR (R170H)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +6 more	GConflicting classifications of pathogenicity
Select item 495952	NM_000492.4(CFTR):c.531dup (p.Gly178fs)	CFTR (G178fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 48692	NM_000492.4(CFTR):c.532G>A (p.Gly178Arg)	CFTR (G178R)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 53996	NM_000492.4(CFTR):c.543_546del (p.Leu183fs)	CFTR (L183fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 495953	NM_000492.4(CFTR):c.571T>G (p.Phe191Val)	CFTR (F191V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 54007	NM_000492.4(CFTR):c.577G>T (p.Glu193Ter)	CFTR (E193*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 38494	NM_000492.4(CFTR):c.579+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 54010	NM_000492.4(CFTR):c.579+3A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 54012	NM_000492.4(CFTR):c.579+5G>A	CFTR	Single nucleotide variant (intron 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 54016	NM_000492.4(CFTR):c.581G>T (p.Gly194Val)	CFTR (G194V)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GConflicting classifications of pathogenicity
Select item 818153	NM_000492.4(CFTR):c.586dup (p.Ala196fs)	CFTR (A196fs)	Duplication (frameshift variant)	CFTR-related disorder +1 more	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 54019	NM_000492.4(CFTR):c.596A>G (p.His199Arg)	CFTR (H199R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 54021	NM_000492.4(CFTR):c.598T>A (p.Phe200Ile)	CFTR (F200I)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 54023	NM_000492.4(CFTR):c.601del (p.Val201fs)	CFTR (V201fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic
Select item 54026	NM_000492.4(CFTR):c.613C>T (p.Pro205Ser)	CFTR (P205S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7190	NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)	CFTR (L206W)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy +1 more	GPathogenic; drug response
Select item 54033	NM_000492.4(CFTR):c.647G>A (p.Trp216Ter)	CFTR (W216*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 54036	NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)	CFTR (Q220*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 818152	NM_000492.4(CFTR):c.671del (p.Phe224fs)	CFTR (F224fs)	Deletion (frameshift variant)	CFTR-related disorder +1 more	GPathogenic
Select item 54040	NM_000492.4(CFTR):c.680T>G (p.Leu227Arg)	CFTR (L227R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 54041	NM_000492.4(CFTR):c.695T>A (p.Val232Asp)	CFTR (V232D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 54042	NM_000492.4(CFTR):c.709C>G (p.Gln237Glu)	CFTR (Q237E)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GPathogenic/Likely pathogenic
Select item 7145	NM_000492.4(CFTR):c.723_743+1del	CFTR	Deletion (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 43579	NM_000492.4(CFTR):c.744-33GATT[6]	CFTR	Microsatellite (intron variant)	Cystic fibrosis +2 more	GBenign
Select item 1704258	NM_000492.4(CFTR):c.769G>T (p.Glu257Ter)	CFTR (E257*)	Single nucleotide variant (nonsense)	Cystic fibrosis +2 more	GPathogenic
Select item 54055	NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)	CFTR (R258G)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GConflicting classifications of pathogenicity
Select item 35890	NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter)	CFTR (Y275*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 54072	NM_000492.4(CFTR):c.861_865del (p.Asn287fs)	CFTR (N287fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 54074	NM_000492.4(CFTR):c.868C>T (p.Gln290Ter)	CFTR (Q290*)	Single nucleotide variant (nonsense)	Cystic fibrosis +1 more	GPathogenic
Select item 552934	NM_000492.4(CFTR):c.869+5G>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis +2 more	GPathogenic/Likely pathogenic
Select item 93159	NM_000492.4(CFTR):c.869+11C>T	CFTR	Single nucleotide variant (intron variant)	CFTR-related disorder +3 more	GBenign
Select item 54075	NM_000492.4(CFTR):c.870-1113_870-1110del	CFTR	Deletion (intron variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GPathogenic/Likely pathogenic
Select item 7163	NM_000492.4(CFTR):c.948del (p.Phe316fs)	CFTR	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 7139	NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)	CFTR (R334W)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53160	NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu)	CFTR (R334L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53159	NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)	CFTR (R334Q)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GConflicting classifications of pathogenicity
Select item 53162	NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys)	CFTR (I336K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7193	NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile)	CFTR (T338I)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53170	NM_000492.4(CFTR):c.1029del (p.Phe342_Cys343insTer)	CFTR	Deletion (nonsense)	Cystic fibrosis	GPathogenic
Select item 7182	NM_000492.4(CFTR):c.1040G>A (p.Arg347His)	CFTR (R347H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7110	NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)	CFTR (R347P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7198	NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)	CFTR (R352Q)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy +1 more	GPathogenic; drug response
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 7135	NM_000492.4(CFTR):c.1081del (p.Trp361fs)	CFTR (W361fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53190	NM_000492.4(CFTR):c.1116+1G>A	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 53194	NM_000492.4(CFTR):c.1117-5A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity

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