"CFTR-France"[submitter] AND "CFTR"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 818101	NG_016465.4:g.18346T>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GBenign
Select item 818099	NM_000492.3(CFTR):c.-85C>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GBenign
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 53621	NM_000492.4(CFTR):c.2T>A (p.Met1Lys)	CFTR (M1K)	Single nucleotide variant (missense variant +1 more)	Cystic fibrosis	GPathogenic
Select item 53869	NM_000492.4(CFTR):c.3G>A (p.Met1Ile)	CFTR (M1I)	Single nucleotide variant (missense variant +1 more)	Cystic fibrosis	GPathogenic
Select item 53980	NM_000492.4(CFTR):c.4C>T (p.Gln2Ter)	CFTR (Q2*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
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 818140	NM_000492.4(CFTR):c.25dup (p.Ala9fs)	CFTR (A9fs)	Duplication (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 53845	NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)	CFTR (S13F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53888	NM_000492.4(CFTR):c.40A>T (p.Lys14Ter)	CFTR (K14*)	Single nucleotide variant (nonsense)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic
Select item 53979	NM_000492.4(CFTR):c.49_50dup (p.Trp19fs)	CFTR (W19fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 53988	NM_000492.4(CFTR):c.53+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 818112	NM_000492.4(CFTR):c.53+3158A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GBenign
Select item 66105	NM_000492.3(CFTR):c.54-5940_273+10250del	CFTR, LOC113664106 +1 more	Deletion	Cystic fibrosis	GPathogenic
Select item 1705873	NM_000492.4(CFTR):c.54-5811_164+2186delinsGGGAATTCATTCTTGATTTGCCTCTCTGCTGCCTGTTGTTGGTGTAAACAAAATTCATTTCTTGTTCTTATTTGTGAAATTTTGGAACCAAATCTATTTTCAAATTAGAAATTGCTTGTGATAATGGTTTTGCAACTTAGACTGGATATGAGACGATGAGATATTAGTTCTTTCATTCCTTT	CFTR	Indel (splice acceptor variant +1 more)	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 53994	NM_000492.4(CFTR):c.54-1161_164+1603del	CFTR	Deletion (splice acceptor variant +1 more)	Cystic fibrosis	GPathogenic
Select item 54061	NM_000492.4(CFTR):c.79G>T (p.Gly27Ter)	CFTR (G27*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53227	NM_000492.4(CFTR):c.131A>G (p.Asp44Gly)	CFTR (D44G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53238	NM_000492.4(CFTR):c.137C>A (p.Ala46Asp)	CFTR (A46D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53266	NM_000492.4(CFTR):c.148T>C (p.Ser50Pro)	CFTR (S50P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53304	NM_000492.4(CFTR):c.164+1G>C	CFTR	Single nucleotide variant (splice donor variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 53317	NM_000492.4(CFTR):c.165-3C>T	CFTR, LOC113664106	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 818131	NM_000492.4(CFTR):c.165-2A>C	LOC113664106, CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
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 53386	NM_000492.4(CFTR):c.178G>A (p.Glu60Lys)	CFTR, LOC113664106 (E60K)	Single nucleotide variant (missense 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 53476	NM_000492.4(CFTR):c.233del (p.Phe78fs)	CFTR (F78fs)	Deletion (frameshift variant)	Cystic fibrosis +1 more	GPathogenic
Select item 53482	NM_000492.4(CFTR):c.236G>A (p.Trp79Ter)	CFTR (W79*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53510	NM_000492.4(CFTR):c.254G>T (p.Gly85Val)	CFTR (G85V)	Single nucleotide variant (missense 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 818095	NM_000492.4(CFTR):c.273+46T>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GBenign
Select item 1705877	NM_000492.4(CFTR):c.274-3397_489+710del	CFTR	Deletion (splice acceptor variant +1 more)	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 53555	NM_000492.4(CFTR):c.274-1G>T	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 53554	NM_000492.4(CFTR):c.274-1G>C	CFTR	Single nucleotide variant (splice acceptor variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
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 53696	NM_000492.4(CFTR):c.325_327delinsG (p.Tyr109fs)	CFTR (Y109fs)	Indel (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53702	NM_000492.4(CFTR):c.327T>A (p.Tyr109Ter)	CFTR (Y109*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic/Likely pathogenic
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 53886	NM_000492.4(CFTR):c.409_412del (p.Leu137fs)	CFTR (L137fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 818127	NM_000492.4(CFTR):c.410_416del (p.Leu137fs)	CFTR (L137fs)	Deletion (frameshift 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 53951	NM_000492.4(CFTR):c.445G>A (p.Gly149Arg)	CFTR (G149R)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +3 more	GPathogenic
Select item 53955	NM_000492.4(CFTR):c.454A>G (p.Met152Val)	CFTR (M152V)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GPathogenic/Likely pathogenic
Select item 38799	NM_000492.4(CFTR):c.489+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 53970	NM_000492.4(CFTR):c.489+2T>G	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 53969	NM_000492.4(CFTR):c.489+2T>C	CFTR	Single nucleotide variant (splice donor variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
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 53986	NM_000492.4(CFTR):c.523A>G (p.Ile175Val)	CFTR (I175V)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 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

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