"CFTR2"[submitter] AND "CFTR"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 53158	NM_000492.4(CFTR):c.-9_14del (p.Met1fs)	CFTR, LOC111674463 (M1fs)	Deletion (frameshift variant +1 more)	Cystic fibrosis	GPathogenic
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 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 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 53845	NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)	CFTR (S13F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 634833	NM_000492.4(CFTR):c.44T>C (p.Leu15Pro)	CFTR (L15P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53984	NM_000492.4(CFTR):c.50del (p.Phe17fs)	CFTR (F17fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53988	NM_000492.4(CFTR):c.53+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 66105	NM_000492.3(CFTR):c.54-5940_273+10250del	CFTR, LOC113664106 +1 more	Deletion	Cystic fibrosis	GPathogenic
Select item 53998	NC_000007.14:g.117504253_117504363del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 487391	NM_000492.4(CFTR):c.57G>A (p.Trp19Ter)	CFTR (W19*)	Single nucleotide variant (nonsense)	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 54059	NM_000492.4(CFTR):c.79G>A (p.Gly27Arg)	CFTR (G27R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 54081	NM_000492.4(CFTR):c.88C>T (p.Gln30Ter)	CFTR (Q30*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 54087	NM_000492.4(CFTR):c.92G>T (p.Arg31Leu)	CFTR (R31L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 53204	NM_000492.4(CFTR):c.115C>T (p.Gln39Ter)	CFTR (Q39*)	Single nucleotide variant (nonsense)	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 53305	NM_000492.4(CFTR):c.164+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 53303	NM_000492.4(CFTR):c.164+1G>A	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 53306	NM_000492.4(CFTR):c.164+2T>C	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 53308	NM_000492.4(CFTR):c.164+4dup	CFTR	Duplication (intron variant)	Cystic fibrosis	GPathogenic
Select item 235283	NM_000492.4(CFTR):c.164+28A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 53317	NM_000492.4(CFTR):c.165-3C>T	CFTR, LOC113664106	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 53314	NM_000492.4(CFTR):c.165-1G>A	CFTR, LOC113664106	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	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 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 53532	NM_000492.4(CFTR):c.263T>A (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 35846	NM_000492.4(CFTR):c.273+3A>C	CFTR	Single nucleotide variant (intron 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 48680	NM_000492.4(CFTR):c.274-1G>A	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 53600	NM_000492.4(CFTR):c.292C>T (p.Gln98Ter)	CFTR (Q98*)	Single nucleotide variant (nonsense)	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 53610	NM_000492.4(CFTR):c.296C>T (p.Pro99Leu)	CFTR (P99L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 554293	NM_000492.4(CFTR):c.305T>G (p.Leu102Arg)	CFTR (L102R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53653	NM_000492.4(CFTR):c.310del (p.Arg104fs)	CFTR (R104fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 48684	NM_000492.4(CFTR):c.313del (p.Ile105fs)	CFTR	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53696	NM_000492.4(CFTR):c.325_327delinsG (p.Tyr109fs)	CFTR (Y109fs)	Indel (frameshift variant)	Cystic fibrosis	GPathogenic
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 53754	NM_000492.4(CFTR):c.346G>A (p.Glu116Lys)	CFTR (E116K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
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 209047	NM_000492.3(CFTR):c.[350G>A;1210-12[5]]	CFTR, CFTR-AS1 (R117H)	Single nucleotide variant (missense variant +1 more)	Cystic fibrosis	GPathogenic
Select item 53764	NM_000492.4(CFTR):c.350G>C (p.Arg117Pro)	CFTR (R117P)	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 53887	NM_000492.4(CFTR):c.409del (p.Leu137fs)	CFTR (L137fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53905	NM_000492.4(CFTR):c.413_415dup (p.Leu138dup)	CFTR	Duplication (inframe_insertion)	Cystic fibrosis	GPathogenic
Select item 53909	NM_000492.4(CFTR):c.416A>G (p.His139Arg)	CFTR (H139R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7146	NM_000492.4(CFTR):c.424del (p.Ile142fs)	CFTR (I142fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 7147	NM_000492.4(CFTR):c.429del (p.Phe143fs)	CFTR (F143fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53948	NM_000492.4(CFTR):c.442del (p.Ile148fs)	CFTR (I148fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 487384	NM_000492.4(CFTR):c.470_483del (p.Met156_Phe157insTer)	CFTR	Deletion (nonsense)	Cystic fibrosis	GPathogenic
Select item 53965	NM_000492.4(CFTR):c.481T>G (p.Tyr161Asp)	CFTR (Y161D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 38799	NM_000492.4(CFTR):c.489+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	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 53991	NM_000492.4(CFTR):c.531del (p.Ile177fs)	CFTR (I177fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
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 54005	NM_000492.4(CFTR):c.575A>G (p.Asp192Gly)	CFTR (D192G)	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 54006	NM_000492.4(CFTR):c.577G>A (p.Glu193Lys)	CFTR (E193K)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
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 837464	NM_000492.4(CFTR):c.580-2A>G	CFTR	Single nucleotide variant (splice acceptor 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 1300164	NM_000492.4(CFTR):c.580G>A (p.Gly194Arg)	CFTR (G194R)	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 54022	NM_000492.4(CFTR):c.601G>A (p.Val201Met)	CFTR (V201M)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
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 54035	NM_000492.4(CFTR):c.653T>A (p.Leu218Ter)	CFTR (L218*)	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 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 487385	NM_000492.4(CFTR):c.717del (p.Gly239_Leu240insTer)	CFTR	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 7145	NM_000492.4(CFTR):c.723_743+1del	CFTR	Deletion (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 370635	NM_000492.4(CFTR):c.744-2A>G	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 1300163	NM_000492.4(CFTR):c.761del (p.Lys254fs)	CFTR (K254fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 48700	NM_000492.4(CFTR):c.803del (p.Asn268fs)	CFTR (N268fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 35890	NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter)	CFTR (Y275*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic

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