{"text_format":"3","workbook":"xls","n_sheets":1,"sheets":["TableS1_CFTR_sites"],"not_rendered":{"external_links":1,"defined_names":1},"read":"whole","date_system":"1900","formulas":"cached_only"}

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["final-flag","Consistency","flag-cx","flag-zp","Chrome","Pos","Ref","Alt","dbSNP","Gene","Mutation_type_.annovar.","Gene_name.annovar.","Proximal_gene_information.annovar.","Mutation_type_.VEP.","Gene_name.VEP.","Proximal_gene_information.VEP.","ExAC.AC.AF.","X1000_genome","nsdb_SIFT_score","nsdb_SIFT_prediction","nsdb_Polyphen2_score","nsdb_polyphen2_prediction","nsdb_MutationTaster_score","nsdb_MutationTaster_prediction","ID","HGMD","ClinVar Accession","ClinVar Condition","ClinVar Clinical Significance","ClinVar Review status","variant_report","observed in Caucasians Screening Panel"]
["VUS",1,"VUS","VUS-PS3+PM2_Supp",7,117120115,"C","T",".","CFTR",".","CFTR",".","5_prime_UTR_variant","CFTR","CFTR:NM_000492:exon1:c.-34C>T:","1|0|8.23655382587925e-06","0|0",".",".",".",".",".",".","117120115_C_T","DM","VCV000552672","Cystic fibrosis","Conflicting interpretations of pathogenicity(Last reviewed: Sep 25, 2020)","criteria provided, conflicting interpretations","c.-34C>T","N"]
["VUS",1,"VUS","VUS",7,117120140,"C","G",".","CFTR",".","CFTR",".","5_prime_UTR_variant","CFTR","CFTR:NM_000492:exon1:c.-9C>G:","0|0|0","0|0",".",".",".",".",".",".","117120140_C_G",".",{"$nulls":4},"c.-9C>G","N"]
["P/LP",1,"P/LP","P/LP",7,117120151,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon1:c.G3A:p.M1I","start_lost","CFTR","CFTR:NM_000492:exon1:c.3G>A:p.Met1?","0|0|0","0|0","0.02","D","0.352","B","1.0","D","117120151_G_A","DM","VCV000053869","Cystic fibrosis","Pathogenic(Last reviewed: Nov 5, 2018)","criteria provided, multiple submitters, no conflicts","p.M1I","N"]
["VUS",1,"VUS","VUS",7,117120159,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon1:c.C11T:p.S4L","missense_variant","CFTR","CFTR:NM_000492:exon1:c.11C>T:p.Ser4Leu","7|0|5.76549270253352e-05","0|0","0.04","D","0.015","B","0.999","D","117120159_C_T",".",{"$nulls":4},"p.S4L","N"]
["VUS",1,"VUS","VUS",7,117120173,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon1:c.G25A:p.A9T","missense_variant","CFTR","CFTR:NM_000492:exon1:c.25G>A:p.Ala9Thr","0|0|0","0|0","0","D","0.543","P","0.999","D","117120173_G_A",".",{"$nulls":4},"p.A9T","N"]
["VUS",1,"VUS","VUS",7,117120179,"G","A","rs1800072","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon1:c.G31A:p.V11I","missense_variant","CFTR","CFTR:NM_000492:exon1:c.31G>A:p.Val11Ile","19|0|0.000156491944783053","0|0","0.77","T","0.0","B","0.004","N","117120179_G_A","DM","VCV000495928","Cystic fibrosis|Inborn genetic diseases|not provided|not specified","Uncertain significance(Last reviewed: Aug 18, 2021)","criteria provided, multiple submitters, no conflicts","p.V11I","N"]
["P/LP",1,"P/LP","LP-PVS1+PM2_Supp",7,117120191,"CTT","C",".","CFTR","frameshift substitution","CFTR","CFTR:NM_000492:exon1:c.43_45C","frameshift_variant","CFTR","CFTR:NM_000492:exon1:c.44_45del:p.Phe17GlnfsTer27","0|0|0","0|0",".",".",".",".",".",".","117120191_CTT_C",".",{"$nulls":4},"p.Phe17GlnfsTer27","N"]
["P/LP",1,"P/LP","P/LP",7,117120191,"CT","C",".","CFTR","frameshift substitution","CFTR","CFTR:NM_000492:exon1:c.43_44C","frameshift_variant","CFTR","CFTR:NM_000492:exon1:c.44del:p.Phe17SerfsTer8","2|0|1.64731076517585e-05","0|0",".",".",".",".",".",".","117120191_CT_C","DM","VCV000053984","not provided|Cystic fibrosis","Pathogenic(Last reviewed: Mar 17, 2017)","reviewed by expert panel","p.F17fs","N"]
["VUS",1,"VUS","VUS?-rare",7,117144294,"C","G",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon2:c.54-13C>G:","0|0|0","0|0",".",".",".",".",".",".","117144294_C_G","DM?","VCV000053995","Cystic fibrosis","Uncertain significance(Last reviewed: Mar 24, 2018)","criteria provided, single submitter","c.54-13C>G","N"]
["VUS",1,"VUS","VUS?-rare",7,117144298,"T","C",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon2:c.54-9T>C:","0|0|0","0|0",".",".",".",".",".",".","117144298_T_C",".",{"$nulls":4},"c.54-9T>C","N"]
["VUS",1,"VUS","VUS",7,117144312,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon2:c.C59T:p.T20I","missense_variant","CFTR","CFTR:NM_000492:exon2:c.59C>T:p.Thr20Ile","0|0|0","0|0","0.64","T","0.008","B","1.000","D","117144312_C_T",".",{"$nulls":4},"p.T20I","N"]
["VUS",1,"VUS","VUS",7,117144318,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon2:c.C65T:p.P22L","missense_variant","CFTR","CFTR:NM_000492:exon2:c.65C>T:p.Pro22Leu","0|0|0","0|0","0","D","0.999","D","1.0","D","117144318_C_T",".",{"$nulls":4},"p.P22L","N"]
["VUS",1,"VUS","VUS",7,117144339,"G","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon2:c.G86T:p.R29I","missense_variant","CFTR","CFTR:NM_000492:exon2:c.86G>T:p.Arg29Ile","0|0|0","0|0","0","D","0.89","P","1.000","D","117144339_G_T",".",{"$nulls":4},"p.R29I","N"]
["VUS",1,"VUS","VUS",7,117144340,"A","G",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon2:c.A87G:p.R29R","synonymous_variant","CFTR","CFTR:NM_000492:exon2:c.87A>G:p.Arg29=","0|0|0","0|0",".",".",".",".",".",".","117144340_A_G",".",{"$nulls":4},"p.R29R","N"]
["VUS",0,"LB","VUS",7,117144344,"C","T","rs1800073","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon2:c.C91T:p.R31C","missense_variant","CFTR","CFTR:NM_000492:exon2:c.91C>T:p.Arg31Cys","203|1|0.00167202042665349","0.00139776|0","0.14","T","0.677","P","0.969","D","117144344_C_T","DM","VCV000035893","Inborn genetic diseases|CFTR-related disorders|not specified|none provided|Cystic fibrosis|not provided|Cystic fibrosis|Hereditary pancreatitis|Bronchiectasis with or without elevated sweat chloride 1|Congenital bilateral aplasia of vas deferens from CFTR mutation","Conflicting interpretations of pathogenicity(Last reviewed: Jul 14, 2021)","criteria provided, conflicting interpretations","p.R31C","N"]
["VUS",1,"VUS","VUS",7,117144345,"G","A","rs149353983","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon2:c.G92A:p.R31H","missense_variant","CFTR","CFTR:NM_000492:exon2:c.92G>A:p.Arg31His","5|0|4.11827691293963e-05","0|0","0.5","T","0.003","B","0.034","N","117144345_G_A","DM","VCV000554829","Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Inborn genetic diseases","Uncertain significance(Last reviewed: Jul 22, 2021)","criteria provided, multiple submitters, no conflicts","p.R31H","N"]
["VUS",1,"VUS","VUS",7,117144359,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon2:c.G106A:p.D36N","missense_variant","CFTR","CFTR:NM_000492:exon2:c.106G>A:p.Asp36Asn","0|0|0","0|0","0","D","0.999","D","1.000","D","117144359_G_A","DM",{"$nulls":4},"p.D36N","N"]
["VUS",0,"VUS","VUS",7,117144377,"T","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon2:c.T124C:p.S42P","missense_variant","CFTR","CFTR:NM_000492:exon2:c.124T>C:p.Ser42Pro","0|0|0","0|0",".",".","0.012","B","0.998","D","117144377_T_C",".",{"$nulls":4},"p.S42P","N"]
["VUS",1,"VUS","VUS",7,117144378,"C","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon2:c.C125A:p.S42Y","missense_variant","CFTR","CFTR:NM_000492:exon2:c.125C>A:p.Ser42Tyr","0|0|0","0|0",".",".","0.033","B","1.000","D","117144378_C_A",".",{"$nulls":4},"p.S42Y","N"]
["VUS",1,"VUS","VUS",7,117144381,"T","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon2:c.T128C:p.V43A","missense_variant","CFTR","CFTR:NM_000492:exon2:c.128T>C:p.Val43Ala","4|0|3.29478435636388e-05","0|0",".",".","0.0","B","0.0","N","117144381_T_C",".",{"$nulls":4},"p.V43A","N"]
["VUS",1,"VUS","VUS",7,117144387,"C","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon2:c.C134G:p.S45C","missense_variant","CFTR","CFTR:NM_000492:exon2:c.134C>G:p.Ser45Cys","0|0|0","0|0",".",".","0.947","D","0.896","D","117144387_C_G",".","VCV000929223","not specified","Uncertain significance(Last reviewed: Sep 23, 2019)","criteria provided, single submitter","p.S45C","N"]
["VUS",1,"VUS","VUS",7,117144417,"G","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon2:c.G164C:p.R55T","missense_variant","CFTR","CFTR:NM_000492:exon2:c.164G>C:p.Arg55Thr","0|0|0","0|0",".",".","0.917","D","1.000","D","117144417_G_C",".",{"$nulls":4},"p.R55T","N"]
["VUS",1,"VUS","VUS",7,117149114,"A","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon3:c.A191C:p.K64T","missense_variant","CFTR","CFTR:NM_000492:exon3:c.191A>C:p.Lys64Thr","0|0|0","0|0","0.24","T","0.997","D","1.000","D","117149114_A_C",".",{"$nulls":4},"p.K64T","N"]
["VUS",1,"VUS","VUS",7,117149128,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon3:c.C205T:p.L69F","missense_variant","CFTR","CFTR:NM_000492:exon3:c.205C>T:p.Leu69Phe","0|0|0","0|0","0.09","T","0.999","D","1.000","D","117149128_C_T",".",{"$nulls":4},"p.L69F","N"]
["VUS",1,"VUS","VUS",7,117149131,"A","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon3:c.A208C:p.I70L","missense_variant","CFTR","CFTR:NM_000492:exon3:c.208A>C:p.Ile70Leu","0|0|0","0|0","1","T","0.005","B","0.987","D","117149131_A_C",".",{"$nulls":4},"p.I70L","N"]
["VUS",1,"VUS","VUS",7,117149138,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon3:c.C215T:p.A72V","missense_variant","CFTR","CFTR:NM_000492:exon3:c.215C>T:p.Ala72Val","0|0|0","0|0","0.14","T","0.999","D","1.0","D","117149138_C_T",".",{"$nulls":4},"p.A72V","N"]
["VUS",0,"LB","VUS",7,117149143,"C","T","rs115545701","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon3:c.C220T:p.R74W","missense_variant","CFTR","CFTR:NM_000492:exon3:c.220C>T:p.Arg74Trp","209|1|0.00172141139261358","0.00539137|1","0.18","T","0.677","P","0.328","N","117149143_C_T","DM","VCV000196277","not specified|ivacaftor response - Efficacy|Cystic fibrosis|none provided|not provided|Inborn genetic diseases","drug response(Last reviewed: Mar 22, 2018)","reviewed by expert panel","p.R74W","N"]
["VUS",1,"VUS","VUS",7,117149144,"G","A","rs142540482","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon3:c.G221A:p.R74Q","missense_variant","CFTR","CFTR:NM_000492:exon3:c.221G>A:p.Arg74Gln","23|0|0.000189437617368959","0.000199681|0","0.29","T","0.01","B","0.081","N","117149144_G_A","DM","VCV000053456","not provided|CFTR-related disorders|Inborn genetic diseases|not specified|Cystic fibrosis","Conflicting interpretations of pathogenicity(Last reviewed: Jul 22, 2021)","criteria provided, conflicting interpretations","p.R74Q","N"]
["P/LP",1,"P/LP","P/LP",7,117149146,"C","T","rs121908749","CFTR","stopgain SNV","CFTR","CFTR:NM_000492:exon3:c.C223T:p.R75X","stop_gained","CFTR","CFTR:NM_000492:exon3:c.223C>T:p.Arg75Ter","3|0|2.47092544394294e-05","0|0","1","T",".",".","1","A","117149146_C_T","DM","VCV000048672","Cystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|none provided|not provided","Pathogenic(Last reviewed: Mar 17, 2017)","reviewed by expert panel","p.R75X","Y"]
["LB",1,"LB","LB",7,117149147,"G","A","rs1800076","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon3:c.G224A:p.R75Q","missense_variant","CFTR","CFTR:NM_000492:exon3:c.224G>A:p.Arg75Gln","1863|28|0.0153444470068856","0.00638978|0","0.01","D","0.994","D","1.000","D","117149147_G_A","DM","VCV000035839","Inborn genetic diseases|not provided|Hereditary pancreatitis|Abnormality of the pancreas|CFTR-related disorders|Lung disease, non-specific|none provided|Cystic fibrosis|not specified","Conflicting interpretations of pathogenicity(Last reviewed: May 18, 2021)","criteria provided, conflicting interpretations","p.R75Q","N"]
["P/LP",1,"P/LP","P/LP",7,117149150,"G","GT",".","CFTR","frameshift substitution","CFTR","CFTR:NM_000492:exon3:c.227_227delinsGT","frameshift_variant","CFTR","CFTR:NM_000492:exon3:c.227_228insT:p.Trp79LeufsTer32","1|0|8.23641814647646e-06","0|0",".",".",".",".",".",".","117149150_G_GT","DM","VCV000053475","Cystic fibrosis|not provided","Pathogenic(Last reviewed: Mar 17, 2017)","reviewed by expert panel","p.W79fs","N"]
["VUS",1,"VUS","VUS",7,117149164,"T","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon3:c.T241C:p.F81L","missense_variant","CFTR","CFTR:NM_000492:exon3:c.241T>C:p.Phe81Leu","0|0|0","0|0","0.2","T","0.996","D","1.000","D","117149164_T_C",".",{"$nulls":4},"p.F81L","N"]
["VUS",0,"VUS","LP-PVS1+PM2_Supp",7,117149175,"T","A",".","CFTR","stopgain SNV","CFTR","CFTR:NM_000492:exon3:c.T252A:p.Y84X","stop_gained","CFTR","CFTR:NM_000492:exon3:c.252T>A:p.Tyr84Ter","0|0|0","0|0","1","T",".",".","1","A","117149175_T_A","DM",{"$nulls":4},"p.Y84X","N"]
["VUS",1,"VUS","VUS",7,117149179,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon3:c.A256G:p.I86V","missense_variant","CFTR","CFTR:NM_000492:exon3:c.256A>G:p.Ile86Val","2|0|1.64736503961913e-05","0|0","0.2","T","0.006","B","0.925","D","117149179_A_G",".","VCV000581675","Cystic fibrosis","Uncertain significance(Last reviewed: Jun 20, 2018)","criteria provided, single submitter","p.I86V","N"]
["P/LP",1,"P/LP","P/LP",7,117149186,"T","G",".","CFTR","stopgain SNV","CFTR","CFTR:NM_000492:exon3:c.T263G:p.L88X","stop_gained","CFTR","CFTR:NM_000492:exon3:c.263T>G:p.Leu88Ter","0|0|0","0|0","1","T",".",".","1","A","117149186_T_G","DM","VCV000053534","not specified|Cystic fibrosis","Pathogenic(Last reviewed: Mar 17, 2017)","reviewed by expert panel","p.L88X","N"]
["VUS",1,"VUS","VUS",7,117149195,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon3:c.G272A:p.G91E","missense_variant","CFTR","CFTR:NM_000492:exon3:c.272G>A:p.Gly91Glu","0|0|0","0|0","0.51","T","0.911","D","1.0","D","117149195_G_A",".",{"$nulls":4},"p.G91E","N"]
["VUS",1,"VUS","VUS",7,117149196,"G","A",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon3:c.G273A:p.G91G","splice_region_variant","CFTR","CFTR:NM_000492:exon3:c.273G>A:p.Gly91=","1|0|8.23682519809565e-06","0|0",".",".",".",".",".",".","117149196_G_A",".",{"$nulls":4},"p.G91G","N"]
["VUS",1,"VUS","VUS",7,117170977,"C","G","rs375543675","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon4:c.C298G:p.L100V","missense_variant","CFTR","CFTR:NM_000492:exon4:c.298C>G:p.Leu100Val","1|0|8.23709658819459e-06","0|0","1","T","0.042","B","0.815","D","117170977_C_G",".",{"$nulls":4},"p.L100V","N"]
["VUS",1,"VUS","VUS",7,117170977,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon4:c.C298T:p.L100F","missense_variant","CFTR","CFTR:NM_000492:exon4:c.298C>T:p.Leu100Phe","0|0|0","0|0","0.08","T","0.908","P","0.957","D","117170977_C_T",".",{"$nulls":4},"p.L100F","N"]
["P/LP",1,"P/LP","LP-PVS1+PM2_Supp",7,117170995,"ATAGCTTCC","A",".","CFTR","frameshift substitution","CFTR","CFTR:NM_000492:exon4:c.316_324A","frameshift_variant","CFTR","CFTR:NM_000492:exon4:c.317_324del:p.Ala107Ter","0|0|0","0|0",".",".",".",".",".",".","117170995_ATAGCTTCC_A","DM","VCV000053680","Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis","Pathogenic","criteria provided, single submitter","p.Ile106_Ala107insTer","N"]
["VUS",1,"VUS","VUS",7,117171020,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon4:c.A341G:p.K114R","missense_variant","CFTR","CFTR:NM_000492:exon4:c.341A>G:p.Lys114Arg","0|0|0","0|0","0.3","T","0.063","B","0.0","N","117171020_A_G",".",{"$nulls":4},"p.K114R","N"]
["VUS",1,"VUS","VUS-PM5+PM2_S+PP3",7,117171025,"G","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon4:c.G346C:p.E116Q","missense_variant","CFTR","CFTR:NM_000492:exon4:c.346G>C:p.Glu116Gln","1|0|8.23682519809565e-06","0|0","0.33","T","0.999","D","1.000","D","117171025_G_C","DM",{"$nulls":4},"p.E116Q","N"]
["P/LP",1,"P/LP","P/LP",7,117171028,"C","T","rs77834169","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon4:c.C349T:p.R117C","missense_variant","CFTR","CFTR:NM_000492:exon4:c.349C>T:p.Arg117Cys","42|0|0.000345946658320017","0|0","0.05","D","1.0","D","1.0","D","117171028_C_T","DM","VCV000048688","not provided|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Cystic fibrosis|CFTR-related disorders|none provided|Bronchiectasis with or without elevated sweat chloride 1|Hereditary pancreatitis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Cystic fibrosis","Pathogenic(Last reviewed: Mar 17, 2017)","reviewed by expert panel","p.R117C","Y"]
["P/LP",1,"P/LP","P/LP",7,117171029,"G","A","rs78655421","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon4:c.G350A:p.R117H","missense_variant","CFTR","CFTR:NM_000492:exon4:c.350G>A:p.Arg117His","185|0|0.00152381266164769","0|0","0.11","T","1.0","D","1","A","117171029_G_A","DM","VCV000007109","Cystic fibrosis|not provided|ivacaftor response - Efficacy|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders|Obstructive azoospermia|Inborn genetic diseases|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Hereditary pancreatitis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Bronchiectasis with or without elevated sweat chloride 1|Cystic fibrosis","Pathogenic(Last reviewed: Mar 3, 2004)","practice guideline","p.R117H","Y"]
["VUS",1,"VUS","VUS",7,117171036,"C","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon4:c.C357G:p.I119M","missense_variant","CFTR","CFTR:NM_000492:exon4:c.357C>G:p.Ile119Met","0|0|0","0|0",".",".","0.979","D","0.742","D","117171036_C_G",".",{"$nulls":4},"p.I119M","N"]
["VUS",1,"VUS","VUS",7,117171036,"C","A",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon4:c.C357A:p.I119I","synonymous_variant","CFTR","CFTR:NM_000492:exon4:c.357C>A:p.Ile119=","0|0|0","0|0",".",".",".",".",".",".","117171036_C_A",".","VCV001097899","Cystic fibrosis","Likely benign(Last reviewed: Jul 28, 2020)","criteria provided, single submitter","p.I119I","N"]
["VUS",1,"VUS","VUS",7,117171037,"G","A","rs201958172","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon4:c.G358A:p.A120T","missense_variant","CFTR","CFTR:NM_000492:exon4:c.358G>A:p.Ala120Thr","14|0|0.000115313653136531","0|0",".",".","0.987","D","1.000","D","117171037_G_A","DM","VCV000053774","not provided|Cystic fibrosis|Infertility","Uncertain significance(Last reviewed: Jul 14, 2021)","criteria provided, multiple submitters, no conflicts","p.A120T","N"]
["VUS",1,"VUS","VUS",7,117171038,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon4:c.C359T:p.A120V","missense_variant","CFTR","CFTR:NM_000492:exon4:c.359C>T:p.Ala120Val","0|0|0","0|0",".",".","0.991","D","1.000","D","117171038_C_T","DM?","VCV000526016","Cystic fibrosis","Uncertain significance(Last reviewed: Dec 9, 2019)","criteria provided, single submitter","p.A120V","N"]
["VUS",1,"VUS","VUS",7,117171039,"G","A","rs1800077","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon4:c.G360A:p.A120A","synonymous_variant","CFTR","CFTR:NM_000492:exon4:c.360G>A:p.Ala120=","12|0|9.88402741170269e-05","0.000199681|0",".",".",".",".",".",".","117171039_G_A",".","VCV000493462","Cystic fibrosis|not specified|CFTR-related disorders|not provided","Conflicting interpretations of pathogenicity(Last reviewed: Jul 22, 2021)","criteria provided, conflicting interpretations","p.A120A","N"]
["VUS",1,"VUS","VUS",7,117171046,"C","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon4:c.C367G:p.L123V","missense_variant","CFTR","CFTR:NM_000492:exon4:c.367C>G:p.Leu123Val","0|0|0","0|0",".",".","0.997","D","1.000","D","117171046_C_G",".",{"$nulls":4},"p.L123V","N"]
["VUS",1,"VUS","VUS",7,117171052,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon4:c.A373G:p.I125V","missense_variant","CFTR","CFTR:NM_000492:exon4:c.373A>G:p.Ile125Val","0|0|0","0|0",".",".","0.007","B","0.281","N","117171052_A_G",".",{"$nulls":4},"p.I125V","N"]
["VUS",0,"LB","VUS",7,117171053,"T","C","rs141723617","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon4:c.T374C:p.I125T","missense_variant","CFTR","CFTR:NM_000492:exon4:c.374T>C:p.Ile125Thr","74|1|0.000609515023721666","0.00159744|0",".",".","0.201","B","0.967","D","117171053_T_C","DM","VCV000053802","none provided|CFTR-related disorders|not specified|not provided|Inborn genetic diseases|Cystic fibrosis","Conflicting interpretations of pathogenicity(Last reviewed: Jul 22, 2021)","criteria provided, conflicting interpretations","p.I125T","N"]
["VUS",1,"VUS","VUS",7,117171059,"T","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon4:c.T380C:p.L127S","missense_variant","CFTR","CFTR:NM_000492:exon4:c.380T>C:p.Leu127Ser","0|0|0","0|0",".",".","1.0","D","1.000","D","117171059_T_C",".",{"$nulls":4},"p.L127S","N"]
["VUS",1,"VUS","VUS",7,117171074,"T","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon4:c.T395C:p.I132T","missense_variant","CFTR","CFTR:NM_000492:exon4:c.395T>C:p.Ile132Thr","0|0|0","0|0",".",".","0.023","B","0.0","N","117171074_T_C",".",{"$nulls":4},"p.I132T","N"]
["VUS",1,"VUS","VUS",7,117171079,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon4:c.A400G:p.R134G","missense_variant","CFTR","CFTR:NM_000492:exon4:c.400A>G:p.Arg134Gly","0|0|0","0|0",".",".","0.995","D","1.000","D","117171079_A_G","DM",{"$nulls":4},"p.R134G","N"]
["LB",1,"LB","LB",7,117171085,"C","T",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon4:c.C406T:p.L136L","synonymous_variant","CFTR","CFTR:NM_000492:exon4:c.406C>T:p.Leu136=","0|0|0","0|0",".",".",".",".",".",".","117171085_C_T",".","VCV000455778","Cystic fibrosis","Likely benign(Last reviewed: Oct 19, 2020)","criteria provided, single submitter","p.L136L","N"]
["VUS",1,"VUS","VUS",7,117171097,"C","T","rs145900055","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon4:c.C418T:p.P140S","missense_variant","CFTR","CFTR:NM_000492:exon4:c.418C>T:p.Pro140Ser","8|0|6.58946015847652e-05","0.000599042|0",".",".","0.999","D","1.0","D","117171097_C_T","DM","VCV000053912","Bronchiectasis with or without elevated sweat chloride 1|Hereditary pancreatitis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders|not specified|Inborn genetic diseases|not provided|Cystic fibrosis","Uncertain significance(Last reviewed: Mar 13, 2021)","criteria provided, multiple submitters, no conflicts","p.P140S","N"]
["VUS",1,"VUS","VUS",7,117171098,"C","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon4:c.C419G:p.P140R","missense_variant","CFTR","CFTR:NM_000492:exon4:c.419C>G:p.Pro140Arg","2|0|1.64736503961913e-05","0|0",".",".","0.999","D","1.0","D","117171098_C_G",".",{"$nulls":4},"p.P140R","N"]
["VUS",1,"VUS","VUS",7,117171111,"C","T",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon4:c.C432T:p.G144G","synonymous_variant","CFTR","CFTR:NM_000492:exon4:c.432C>T:p.Gly144=","0|0|0","0|0",".",".",".",".",".",".","117171111_C_T",".",{"$nulls":4},"p.G144G","N"]
["LB",1,"LB","LB",7,117171122,"T","C","rs35516286","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon4:c.T443C:p.I148T","missense_variant","CFTR","CFTR:NM_000492:exon4:c.443T>C:p.Ile148Thr","224|3|0.00184510963575559","0.00139776|0",".",".","0.375","B","1.000","D","117171122_T_C","DP","VCV000038850","not provided|Cystic fibrosis|CFTR-related disorders|Inborn genetic diseases|not specified|none provided","Conflicting interpretations of pathogenicity(Last reviewed: Jun 10, 2021)","criteria provided, conflicting interpretations","p.I148T","N"]
["VUS",1,"VUS","VUS",7,117171140,"T","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon4:c.T461C:p.I154T","missense_variant","CFTR","CFTR:NM_000492:exon4:c.461T>C:p.Ile154Thr","1|0|8.23831806498385e-06","0|0",".",".","0.192","B","1.000","D","117171140_T_C",".",{"$nulls":4},"p.I154T","N"]
["VUS",1,"VUS","VUS",7,117171145,"A","G","rs374689323","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon4:c.A466G:p.M156V","missense_variant","CFTR","CFTR:NM_000492:exon4:c.466A>G:p.Met156Val","5|0|4.11922690349475e-05","0|0",".",".","0.02","B","0.528","D","117171145_A_G",".",{"$nulls":4},"p.M156V","N"]
["VUS",1,"VUS","VUS",7,117171147,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon4:c.G468A:p.M156I","missense_variant","CFTR","CFTR:NM_000492:exon4:c.468G>A:p.Met156Ile","0|0|0","0|0",".",".","0.043","B","0.997","D","117171147_G_A",".",{"$nulls":4},"p.M156I","N"]
["VUS",1,"VUS","VUS",7,117171152,"G","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon4:c.G473C:p.S158T","missense_variant","CFTR","CFTR:NM_000492:exon4:c.473G>C:p.Ser158Thr","2|0|1.64777221196942e-05","0|0",".",".","0.999","D","1.0","D","117171152_G_C","DM?","VCV000053959","not provided|not specified|Cystic fibrosis","Uncertain significance(Last reviewed: Feb 17, 2020)","criteria provided, multiple submitters, no conflicts","p.S158T","N"]
["LB",1,"LB","LB",7,117171154,"T","C",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon4:c.T475C:p.L159L","synonymous_variant","CFTR","CFTR:NM_000492:exon4:c.475T>C:p.Leu159=","2|0|1.64777221196942e-05","0|0",".",".",".",".",".",".","117171154_T_C",".","VCV000740284","Cystic fibrosis","Likely benign(Last reviewed: Oct 9, 2019)","criteria provided, single submitter","p.L159L","N"]
["P/LP",1,"P/LP","LP-PVS1+PM2_Supp",7,117171160,"TA","T",".","CFTR","frameshift substitution","CFTR","CFTR:NM_000492:exon4:c.481_482T","frameshift_variant","CFTR","CFTR:NM_000492:exon4:c.482del:p.Tyr161LeufsTer5","0|0|0","0|0",".",".",".",".",".",".","117171160_TA_T",".",{"$nulls":4},"p.Tyr161LeufsTer5","N"]
["VUS",1,"VUS","VUS-PS4+PS3(PMID: 11810271+19893581-conflict)",7,117171171,"A","G","rs377729736","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon4:c.489+3A>G:","34|0|0.000280213621678644","0|0",".",".",".",".",".",".","117171171_A_G","DM","VCV000053971","Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|not specified|Inborn genetic diseases|CFTR-related disorders|not provided|Cystic fibrosis","Conflicting interpretations of pathogenicity(Last reviewed: Jul 22, 2021)","criteria provided, conflicting interpretations","c.489+3A>G","N"]
["VUS",1,"VUS","VUS",7,117174348,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon5:c.C508T:p.R170C","missense_variant","CFTR","CFTR:NM_000492:exon5:c.508C>T:p.Arg170Cys","6|0|4.94258365322833e-05","0.000199681|0","0.01","D","0.973","D","1.000","D","117174348_C_T","DM","VCV000455782","Inborn genetic diseases|Cystic fibrosis|not provided|none provided","Uncertain significance(Last reviewed: Nov 24, 2020)","criteria provided, multiple submitters, no conflicts","p.R170C","N"]
["VUS",1,"VUS","VUS",7,117174349,"G","A","rs1800079","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon5:c.G509A:p.R170H","missense_variant","CFTR","CFTR:NM_000492:exon5:c.509G>A:p.Arg170His","57|0|0.00046953771129197","0|0","0.03","D","0.961","D","1.000","D","117174349_G_A","DM","VCV000053983","not provided|Inborn genetic diseases|not specified|none provided|Cystic fibrosis|CFTR-related disorders","Conflicting interpretations of pathogenicity(Last reviewed: Jul 22, 2021)","criteria provided, conflicting interpretations","p.R170H","N"]
["VUS",0,"VUS","LP-PVS1+PM2_Supp",7,117174375,"C","T",".","CFTR","stopgain SNV","CFTR","CFTR:NM_000492:exon5:c.C535T:p.Q179X","stop_gained","CFTR","CFTR:NM_000492:exon5:c.535C>T:p.Gln179Ter","1|0|8.23750370687667e-06","0|0","0.01","D",".",".","1","A","117174375_C_T",".",{"$nulls":4},"p.Q179X","N"]
["VUS",1,"VUS","VUS",7,117174378,"C","G","rs374163420","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon5:c.C538G:p.L180V","missense_variant","CFTR","CFTR:NM_000492:exon5:c.538C>G:p.Leu180Val","2|0|1.64750074137533e-05","0|0","0.19","T","0.971","D","1.000","D","117174378_C_G",".","VCV000917628","Cystic fibrosis|not specified","Uncertain significance(Last reviewed: Jan 27, 2020)","criteria provided, multiple submitters, no conflicts","p.L180V","N"]
["VUS",1,"VUS","VUS",7,117174398,"C","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon5:c.C558G:p.N186K","missense_variant","CFTR","CFTR:NM_000492:exon5:c.558C>G:p.Asn186Lys","0|0|0","0|0","0.15","T","0.911","D","0.994","D","117174398_C_G","DM?","VCV000558712","Cystic fibrosis|not specified","Uncertain significance(Last reviewed: Mar 26, 2019)","criteria provided, multiple submitters, no conflicts","p.N186K","N"]
["VUS",1,"VUS","VUS",7,117174403,"T","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon5:c.T563A:p.L188Q","missense_variant","CFTR","CFTR:NM_000492:exon5:c.563T>A:p.Leu188Gln","0|0|0","0|0","0.14","T","1.0","D","1.000","D","117174403_T_A",".",{"$nulls":4},"p.L188Q","N"]
["VUS",1,"VUS","VUS",7,117174407,"C","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon5:c.C567A:p.N189K","missense_variant","CFTR","CFTR:NM_000492:exon5:c.567C>A:p.Asn189Lys","0|0|0","0|0","0.02","D","0.992","D","0.996","D","117174407_C_A","DM","VCV000054002","Inborn genetic diseases|Cystic fibrosis","Likely pathogenic(Last reviewed: Nov 19, 2019)","criteria provided, single submitter","p.N189K","N"]
["P/LP",1,"P/LP","P/LP",7,117174420,"G","A",".","CFTR","splicing","CFTR",".","splice_donor_variant","CFTR","CFTR:NM_000492:exon5:c.579+1G>A:","0|0|0","0|0",".",".",".",".","1.0","D","117174420_G_A","DM","VCV000801157","not provided","Pathogenic(Last reviewed: Mar 13, 2019)","criteria provided, single submitter","c.579+1G>A","N"]
["VUS",1,"VUS","VUS",7,117174423,"T","C",".","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon5:c.579+4T>C:","0|0|0","0|0",".",".",".",".",".",".","117174423_T_C","DM",{"$nulls":4},"c.579+4T>C","N"]
["P/LP",1,"P/LP","P/LP",7,117174424,"G","A","rs78440224","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon5:c.579+5G>A:","0|0|0","0|0",".",".",".",".",".",".","117174424_G_A","DM","VCV000054012","Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Cystic fibrosis","Pathogenic(Last reviewed: Mar 17, 2017)","reviewed by expert panel","c.579+5G>A","Y"]
["LB",1,"LB","LB",7,117175311,"T","C",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon6:c.T589C:p.L197L","synonymous_variant","CFTR","CFTR:NM_000492:exon6:c.589T>C:p.Leu197=","2|0|1.64728362929529e-05","0|0",".",".",".",".",".",".","117175311_T_C",".","VCV000237858","Cystic fibrosis","Likely benign(Last reviewed: Sep 30, 2020)","criteria provided, single submitter","p.L197L","N"]
["VUS",1,"VUS","VUS",7,117175314,"G","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon6:c.G592C:p.A198P","missense_variant","CFTR","CFTR:NM_000492:exon6:c.592G>C:p.Ala198Pro","0|0|0","0|0","0.03","D","1.0","D","1.000","D","117175314_G_C","DM","VCV000054017","not provided|Cystic fibrosis","Uncertain significance(Last reviewed: Dec 30, 2019)","criteria provided, multiple submitters, no conflicts","p.A198P","N"]
["VUS",0,"LB","VUS",7,117175323,"G","A","rs138338446","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon6:c.G601A:p.V201M","missense_variant","CFTR","CFTR:NM_000492:exon6:c.601G>A:p.Val201Met","24|0|0.000197674035515435","0.000399361|0","0.01","D","0.714","P","0.743","D","117175323_G_A","DM","VCV000054022","not specified|CFTR-related disorders|Inborn genetic diseases|not provided|Cystic fibrosis","Uncertain significance(Last reviewed: Mar 3, 2017)","reviewed by expert panel","p.V201M","N"]
["VUS",1,"VUS","VUS",7,117175332,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon6:c.G610A:p.A204T","missense_variant","CFTR","CFTR:NM_000492:exon6:c.610G>A:p.Ala204Thr","1|0|8.23641814647646e-06","0|0","0.13","T","0.051","B","0.040","N","117175332_G_A","DM","VCV000555386","Cystic fibrosis","Uncertain significance(Last reviewed: Dec 4, 2017)","criteria provided, single submitter","p.A204T","N"]
["LB",1,"LB","LB",7,117175372,"A","G","rs121909046","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon6:c.A650G:p.E217G","missense_variant","CFTR","CFTR:NM_000492:exon6:c.650A>G:p.Glu217Gly","476|11|0.0039205350377228","0.00299521|0","0.31","T","0.278","B","0.999","A","117175372_A_G","DM","VCV000007238","Cystic fibrosis|Inborn genetic diseases|not specified|CFTR-related disorders|not provided","Conflicting interpretations of pathogenicity(Last reviewed: Jun 10, 2021)","criteria provided, conflicting interpretations","p.E217G","N"]
["VUS",1,"VUS","VUS",7,117175384,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon6:c.C662T:p.A221V","missense_variant","CFTR","CFTR:NM_000492:exon6:c.662C>T:p.Ala221Val","1|0|8.23641814647646e-06","0|0","1","T","0.025","B","0.274","N","117175384_C_T",".","VCV000495955","not provided","Uncertain significance(Last reviewed: Jun 15, 2017)","criteria provided, single submitter","p.A221V","N"]
["VUS",1,"VUS","VUS",7,117175459,"A","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon6:c.A737C:p.K246T","missense_variant","CFTR","CFTR:NM_000492:exon6:c.737A>C:p.Lys246Thr","0|0|0","0|0","0.51","T","0.854","P","0.680","D","117175459_A_C",".",{"$nulls":4},"p.K246T","N"]
["LB",1,"LB","LB",7,117175460,"G","A","rs35033453","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon6:c.G738A:p.K246K","synonymous_variant","CFTR","CFTR:NM_000492:exon6:c.738G>A:p.Lys246=","7|0|5.76549270253352e-05","0|0",".",".",".",".",".",".","117175460_G_A",".","VCV000416597","Cystic fibrosis|not specified","Likely benign(Last reviewed: Oct 26, 2020)","criteria provided, multiple submitters, no conflicts","p.K246K","N"]
["P/LP",0,"VUS","LP-PVS1+PM2_Supp",7,117175464,"A","T",".","CFTR","stopgain SNV","CFTR","CFTR:NM_000492:exon6:c.A742T:p.R248X","stop_gained","CFTR","CFTR:NM_000492:exon6:c.742A>T:p.Arg248Ter","0|0|0","0|0","1","T",".",".","1","A","117175464_A_T",".","VCV000984342","Cystic fibrosis","Likely pathogenic(Last reviewed: Feb 28, 2020)","no assertion criteria provided","p.R248X","N"]
["VUS",1,"VUS","VUS",7,117175473,"C","T",".","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon6:c.743+8C>T:","0|0|0","0|0",".",".",".",".",".",".","117175473_C_T",".",{"$nulls":4},"c.743+8C>T","N"]
["VUS",1,"VUS","VUS?-rare",7,117176587,"T","C","rs369149477","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon7:c.744-15T>C:","2|0|1.67327610729046e-05","0|0",".",".",".",".",".",".","117176587_T_C",".","VCV001119296","Cystic fibrosis","Likely benign(Last reviewed: Aug 9, 2020)","criteria provided, single submitter","c.744-15T>C","N"]
["VUS",1,"VUS","VUS",7,117176607,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon7:c.A749G:p.Q250R","missense_variant","CFTR","CFTR:NM_000492:exon7:c.749A>G:p.Gln250Arg","0|0|0","0|0","0.42","T","0.007","B","0.799","D","117176607_A_G",".",{"$nulls":4},"p.Q250R","N"]
["VUS",1,"VUS","VUS",7,117176622,"T","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon7:c.T764A:p.I255N","missense_variant","CFTR","CFTR:NM_000492:exon7:c.764T>A:p.Ile255Asn","1|0|8.24728664269455e-06","0|0","0.14","T","0.97","D","0.999","D","117176622_T_A","DM",{"$nulls":4},"p.I255N","N"]
["VUS",1,"VUS","VUS",7,117176632,"A","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon7:c.A774T:p.R258S","missense_variant","CFTR","CFTR:NM_000492:exon7:c.774A>T:p.Arg258Ser","0|0|0","0|0","0","D","0.997","D","1.000","D","117176632_A_T",".",{"$nulls":4},"p.R258S","N"]
["VUS",1,"VUS","VUS",7,117176637,"T","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon7:c.T779C:p.V260A","missense_variant","CFTR","CFTR:NM_000492:exon7:c.779T>C:p.Val260Ala","0|0|0","0|0","0.45","T","0.02","B","0.913","D","117176637_T_C",".",{"$nulls":4},"p.V260A","N"]
["VUS",1,"VUS","VUS",7,117176654,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon7:c.A796G:p.I266V","missense_variant","CFTR","CFTR:NM_000492:exon7:c.796A>G:p.Ile266Val","0|0|0","0|0","0.21","T","0.163","B","0.957","D","117176654_A_G",".",{"$nulls":4},"p.I266V","N"]
["VUS",1,"VUS","VUS",7,117176668,"A","G",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon7:c.A810G:p.Q270Q","synonymous_variant","CFTR","CFTR:NM_000492:exon7:c.810A>G:p.Gln270=","2|0|1.64752788440944e-05","0|0",".",".",".",".",".",".","117176668_A_G",".",{"$nulls":4},"p.Q270Q","N"]
["VUS",0,"VUS","LP-PVS1+PM2_Supp",7,117176695,"AG","A",".","CFTR","frameshift substitution","CFTR","CFTR:NM_000492:exon7:c.837_838A","frameshift_variant","CFTR","CFTR:NM_000492:exon7:c.838del:p.Ala280GlnfsTer5","0|0|0","0|0",".",".",".",".",".",".","117176695_AG_A",".",{"$nulls":4},"p.Ala280GlnfsTer5","N"]
["VUS",1,"VUS","VUS",7,117176713,"T","C",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon7:c.T855C:p.I285I","synonymous_variant","CFTR","CFTR:NM_000492:exon7:c.855T>C:p.Ile285=","0|0|0","0|0",".",".",".",".",".",".","117176713_T_C",".",{"$nulls":4},"p.I285I","N"]
["P/LP",1,"P/LP","LP-PVS1+PM2_Supp",7,117176714,"GA","G",".","CFTR","frameshift substitution","CFTR","CFTR:NM_000492:exon7:c.856_857G","frameshift_variant","CFTR","CFTR:NM_000492:exon7:c.857del:p.Asn287ThrfsTer2","0|0|0","0|0",".",".",".",".",".",".","117176714_GA_G",".",{"$nulls":4},"p.Asn287ThrfsTer2","N"]
["VUS",1,"VUS","VUS",7,117176719,"C","G","rs112162204","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon7:c.C861G:p.N287K","missense_variant","CFTR","CFTR:NM_000492:exon7:c.861C>G:p.Asn287Lys","8|0|6.58989439694229e-05","0.000199681|0","0.35","T","0.201","B","0.998","D","117176719_C_G","DM","VCV000054071","not provided|Inborn genetic diseases|Cystic fibrosis","Uncertain significance(Last reviewed: Dec 26, 2018)","criteria provided, multiple submitters, no conflicts","p.N287K","N"]
["VUS",1,"VUS","VUS-PM2-S+PP3",7,117176732,"G","A",".","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon7:c.869+5G>A:","1|0|8.23777514168973e-06","0.000199681|0",".",".",".",".",".",".","117176732_G_A","DM","VCV000552934","Cystic fibrosis|not specified","Conflicting interpretations of pathogenicity(Last reviewed: Jul 22, 2021)","criteria provided, conflicting interpretations","c.869+5G>A","N"]
["VUS",1,"VUS","VUS?-rare",7,117176741,"A","G",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon7:c.869+14A>G:","0|0|0","0|0",".",".",".",".",".",".","117176741_A_G",".","VCV000495960","not specified","Uncertain significance(Last reviewed: Oct 7, 2019)","criteria provided, single submitter","c.869+14A>G","N"]
["P/LP",1,"P/LP","P/LP",7,117180152,"A","G",".","CFTR","splicing","CFTR",".","splice_acceptor_variant","CFTR","CFTR:NM_000492:exon8:c.870-2A>G:","0|0|0","0|0",".",".",".",".","1.0","D","117180152_A_G","DM","VCV000495962","Cystic fibrosis","Pathogenic/Likely pathogenic(Last reviewed: Apr 2, 2020)","criteria provided, multiple submitters, no conflicts","c.870-2A>G","N"]
["VUS",1,"VUS","VUS",7,117180173,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon8:c.C889T:p.R297W","missense_variant","CFTR","CFTR:NM_000492:exon8:c.889C>T:p.Arg297Trp","10|0|8.23736799617786e-05","0.000199681|0","0","D","0.956","D","1.0","D","117180173_C_T","DM","VCV000054080","not specified|Cystic fibrosis","Uncertain significance(Last reviewed: Oct 30, 2018)","criteria provided, multiple submitters, no conflicts","p.R297W","N"]
["LB",0,"VUS","LB",7,117180174,"G","A","rs143486492","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon8:c.G890A:p.R297Q","missense_variant","CFTR","CFTR:NM_000492:exon8:c.890G>A:p.Arg297Gln","59|0|0.000486004711774494","0.000399361|0","0.04","D","0.133","B","1.0","D","117180174_G_A","DM?","VCV000054082","none provided|CFTR-related disorders|Inborn genetic diseases|Cystic fibrosis|not provided|not specified","Conflicting interpretations of pathogenicity(Last reviewed: Jul 14, 2021)","criteria provided, conflicting interpretations","p.R297Q","N"]
["VUS",1,"VUS","VUS",7,117180185,"T","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon8:c.T901C:p.Y301H","missense_variant","CFTR","CFTR:NM_000492:exon8:c.901T>C:p.Tyr301His","0|0|0","0|0","0.03","D","0.169","B","0.997","D","117180185_T_C",".",{"$nulls":4},"p.Y301H","N"]
["VUS",1,"VUS","VUS",7,117180197,"T","G","rs201885470","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon8:c.T913G:p.F305V","missense_variant","CFTR","CFTR:NM_000492:exon8:c.913T>G:p.Phe305Val","0|0|0","0|0","0.43","T","0.026","B","1.000","D","117180197_T_G","DM?","VCV000054084","Cystic fibrosis","Uncertain significance(Last reviewed: May 26, 2017)","criteria provided, single submitter","p.F305V","N"]
["VUS",1,"VUS","VUS",7,117180197,"T","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon8:c.T913A:p.F305I","missense_variant","CFTR","CFTR:NM_000492:exon8:c.913T>A:p.Phe305Ile","0|0|0","0|0","0.53","T","0.239","B","0.999","D","117180197_T_A",".",{"$nulls":4},"p.F305I","N"]
["VUS",1,"VUS","VUS",7,117180201,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon8:c.A917G:p.N306S","missense_variant","CFTR","CFTR:NM_000492:exon8:c.917A>G:p.Asn306Ser","2|0|1.64744645799012e-05","0|0","0.71","T","0.034","B","0.077","N","117180201_A_G",".","VCV000823066","Inborn genetic diseases","Uncertain significance(Last reviewed: Nov 15, 2018)","criteria provided, single submitter","p.N306S","N"]
["VUS",1,"VUS","VUS",7,117180210,"C","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon8:c.C926G:p.A309G","missense_variant","CFTR","CFTR:NM_000492:exon8:c.926C>G:p.Ala309Gly","5|0|4.11841259904782e-05","0|0","0.17","T","0.009","B","1.000","D","117180210_C_G","DM","VCV000054086","not provided|Cystic fibrosis","Uncertain significance(Last reviewed: Dec 28, 2017)","criteria provided, multiple submitters, no conflicts","p.A309G","N"]
["P/LP",1,"P/LP","LP-PS4(PMID:28261631,7509232,18456578,22975760)+PM4",7,117180210,"CCTT","C","rs121908768","CFTR","nonframeshift substitution","CFTR","CFTR:NM_000492:exon8:c.926_929C","inframe_deletion","CFTR","CFTR:NM_000492:exon8:c.927_929del:p.Phe312del","5|0|4.11841259904782e-05","0|0",".",".",".",".",".",".","117180210_CCTT_C","DM","VCV000048704","not provided|Cystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|none provided","Pathogenic/Likely pathogenic(Last reviewed: Jan 6, 2021)","criteria provided, multiple submitters, no conflicts","p.F312del","Y"]
["LB",1,"LB","LB",7,117180211,"C","T",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon8:c.C927T:p.A309A","synonymous_variant","CFTR","CFTR:NM_000492:exon8:c.927C>T:p.Ala309=","2|0|1.64750074137533e-05","0|0",".",".",".",".",".",".","117180211_C_T",".","VCV000256258","not specified|Cystic fibrosis","Likely benign(Last reviewed: Nov 16, 2020)","criteria provided, multiple submitters, no conflicts","p.A309A","N"]
["VUS",1,"VUS","VUS",7,117180237,"T","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon8:c.T953C:p.V318A","missense_variant","CFTR","CFTR:NM_000492:exon8:c.953T>C:p.Val318Ala","0|0|0","0|0","0.21","T","0.463","P","1.000","D","117180237_T_C",".",{"$nulls":4},"p.V318A","N"]
["VUS",1,"VUS","VUS",7,117180245,"T","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon8:c.T961G:p.S321A","missense_variant","CFTR","CFTR:NM_000492:exon8:c.961T>G:p.Ser321Ala","0|0|0","0|0","0.31","T","0.006","B","0.758","D","117180245_T_G",".",{"$nulls":4},"p.S321A","N"]
["VUS",1,"VUS","VUS",7,117180249,"T","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon8:c.T965C:p.V322A","missense_variant","CFTR","CFTR:NM_000492:exon8:c.965T>C:p.Val322Ala","0|0|0","0|0","0.09","T","0.669","P","1.000","D","117180249_T_C","DM",{"$nulls":4},"p.V322A","N"]
["VUS",1,"VUS","VUS",7,117180261,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon8:c.C977T:p.A326V","missense_variant","CFTR","CFTR:NM_000492:exon8:c.977C>T:p.Ala326Val","0|0|0","0|0","1","T","0.093","B","0.986","D","117180261_C_T",".","VCV000823472","Inborn genetic diseases","Uncertain significance(Last reviewed: Nov 7, 2019)","criteria provided, single submitter","p.A326V","N"]
["VUS",1,"VUS","VUS",7,117180276,"T","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon8:c.T992C:p.I331T","missense_variant","CFTR","CFTR:NM_000492:exon8:c.992T>C:p.Ile331Thr","0|0|0","0|0","0","D","0.794","P","1.0","D","117180276_T_C",".",{"$nulls":4},"p.I331T","N"]
["P/LP",1,"P/LP","LP-PVS1+PM2_Supp",7,117180286,"GA","G",".","CFTR","frameshift substitution","CFTR","CFTR:NM_000492:exon8:c.1002_1003G","frameshift_variant","CFTR","CFTR:NM_000492:exon8:c.1003del:p.Ile336TyrfsTer33","0|0|0","0|0",".",".",".",".",".",".","117180286_GA_G",".",{"$nulls":4},"p.Ile336TyrfsTer33","N"]
["VUS",1,"VUS","VUS",7,117180290,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon8:c.A1006G:p.I336V","missense_variant","CFTR","CFTR:NM_000492:exon8:c.1006A>G:p.Ile336Val","0|0|0","0|0","0.8","T","0.935","D","1.000","D","117180290_A_G",".",{"$nulls":4},"p.I336V","N"]
["P/LP",1,"P/LP","P/LP",7,117180297,"C","T","rs77409459","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon8:c.C1013T:p.T338I","missense_variant","CFTR","CFTR:NM_000492:exon8:c.1013C>T:p.Thr338Ile","5|0|4.11827691293963e-05","0|0","0.35","T","0.997","D","1","A","117180297_C_T","DM","VCV000007193","not provided|not specified|Cystic fibrosis|CFTR-related disorders","Pathogenic(Last reviewed: Mar 17, 2017)","reviewed by expert panel","p.T338I","Y"]
["P/LP",1,"P/LP","P/LP",7,117180324,"G","A","rs77932196","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon8:c.G1040A:p.R347H","missense_variant","CFTR","CFTR:NM_000492:exon8:c.1040G>A:p.Arg347His","2|0|1.64728362929529e-05","0|0","0","D","0.999","D","1.0","D","117180324_G_A","DM","VCV000007182","CFTR-related disorders|Cystic fibrosis|Cystic fibrosis|not specified|ivacaftor response - Efficacy|CFTR-related disorders|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|not provided","Pathogenic, drug response(Last reviewed: Dec 28, 2020)","reviewed by expert panel","p.R347H","Y"]
["VUS",1,"VUS","VUS",7,117180326,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon8:c.A1042G:p.M348V","missense_variant","CFTR","CFTR:NM_000492:exon8:c.1042A>G:p.Met348Val","0|0|0","0|0","0.03","D","0.992","D","1.000","D","117180326_A_G","DM",{"$nulls":4},"p.M348V","N"]
["VUS",1,"VUS","VUS",7,117180338,"C","T","rs193922497","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon8:c.C1054T:p.R352W","missense_variant","CFTR","CFTR:NM_000492:exon8:c.1054C>T:p.Arg352Trp","57|0|0.000469475834349158","0.000199681|0","0.03","D","0.999","D","1.000","D","117180338_C_T","DM","VCV000035816","not specified|not provided|Cystic fibrosis","Conflicting interpretations of pathogenicity(Last reviewed: Jul 22, 2021)","criteria provided, conflicting interpretations","p.R352W","N"]
["LB",1,"LB","LB",7,117180343,"A","G","rs1800087","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon8:c.A1059G:p.Q353Q","synonymous_variant","CFTR","CFTR:NM_000492:exon8:c.1059A>G:p.Gln353=","1|0|8.23641814647646e-06","0|0",".",".",".",".",".",".","117180343_A_G",".","VCV000495886","not specified","Likely benign(Last reviewed: Aug 28, 2019)","criteria provided, single submitter","p.Q353Q","N"]
["VUS",1,"VUS","VUS?-rare",7,117182055,"C","T",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon9:c.1117-15C>T:","0|0|0","0|0",".",".",".",".",".",".","117182055_C_T",".",{"$nulls":4},"c.1117-15C>T","N"]
["VUS",1,"VUS","VUS",7,117182067,"T","C",".","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon9:c.1117-3T>C:","0|0|0","0|0",".",".",".",".",".",".","117182067_T_C",".",{"$nulls":4},"c.1117-3T>C","N"]
["P/LP",1,"P/LP","P/LP",7,117182070,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon9:c.G1117A:p.D373N","missense_variant","CFTR","CFTR:NM_000492:exon9:c.1117G>A:p.Asp373Asn","1|0|8.23953990409176e-06","0.000199681|0",".",".","0.358","B","1.0","D","117182070_G_A","DM","VCV000161998","Cystic fibrosis","Conflicting interpretations of pathogenicity(Last reviewed: Jul 22, 2021)","criteria provided, conflicting interpretations","p.D373N","N"]
["P/LP",1,"P/LP","LP-PVS1+PM2_Supp",7,117182111,"CTT","C",".","CFTR","frameshift substitution","CFTR","CFTR:NM_000492:exon9:c.1158_1160C","frameshift_variant","CFTR","CFTR:NM_000492:exon9:c.1159_1160del:p.Leu387AsnfsTer23","0|0|0","0|0",".",".",".",".",".",".","117182111_CTT_C","DM",{"$nulls":4},"p.Leu387AsnfsTer23","N"]
["VUS",1,"VUS","VUS",7,117182116,"C","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon9:c.C1163A:p.T388K","missense_variant","CFTR","CFTR:NM_000492:exon9:c.1163C>A:p.Thr388Lys","0|0|0","0|0","0.78","T","0.491","P","0.971","D","117182116_C_A",".",{"$nulls":4},"p.T388K","N"]
["VUS",1,"VUS","VUS",7,117182116,"C","T","rs143860237","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon9:c.C1163T:p.T388M","missense_variant","CFTR","CFTR:NM_000492:exon9:c.1163C>T:p.Thr388Met","16|0|0.000131795716639209","0|0","0.12","T","0.1","B","0.946","D","117182116_C_T","DM","VCV000495887","Cystic fibrosis|none provided|Bronchiectasis with or without elevated sweat chloride 1|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Hereditary pancreatitis|CFTR-related disorders|Inborn genetic diseases|not provided|not specified","Conflicting interpretations of pathogenicity(Last reviewed: Aug 11, 2021)","criteria provided, conflicting interpretations","p.T388M","N"]
["VUS",1,"VUS","VUS",7,117182117,"G","A",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon9:c.G1164A:p.T388T","synonymous_variant","CFTR","CFTR:NM_000492:exon9:c.1164G>A:p.Thr388=","1|0|8.23736799617786e-06","0|0",".",".",".",".",".",".","117182117_G_A",".","VCV000289741","Cystic fibrosis|not provided","Conflicting interpretations of pathogenicity(Last reviewed: Jul 22, 2021)","criteria provided, conflicting interpretations","p.T388T","N"]
["VUS",1,"VUS","VUS",7,117182119,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon9:c.C1166T:p.T389I","missense_variant","CFTR","CFTR:NM_000492:exon9:c.1166C>T:p.Thr389Ile","0|0|0","0|0","0.09","T","0.182","B","0.765","D","117182119_C_T",".",{"$nulls":4},"p.T389I","N"]
["VUS",1,"VUS","VUS",7,117182121,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon9:c.A1168G:p.T390A","missense_variant","CFTR","CFTR:NM_000492:exon9:c.1168A>G:p.Thr390Ala","1|0|8.23736799617786e-06","0|0","0.3","T","0.14","B","0.944","D","117182121_A_G",".",{"$nulls":4},"p.T390A","N"]
["VUS",1,"VUS","VUS",7,117182127,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon9:c.G1174A:p.V392I","missense_variant","CFTR","CFTR:NM_000492:exon9:c.1174G>A:p.Val392Ile","0|0|0","0|0","0.25","T","0.003","B","0.047","N","117182127_G_A",".",{"$nulls":4},"p.V392I","N"]
["LB",1,"LB","LB",7,117188660,"A","ATGTG",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon10:c.1210-35_1210-34insTGTG:","192|0|0.0015902991750323","0.00379393|0",".",".",".",".",".",".","117188660_A_ATGTG",".","VCV000496577","Cystic fibrosis","Benign(Last reviewed: Nov 25, 2020)","criteria provided, multiple submitters, no conflicts","c.1210-35_1210-34insTGTG","N"]
["LB",0,"VUS","LB",7,117188663,"T","G",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon10:c.1210-32T>G:","0|0|0","0|0",".",".",".",".",".",".","117188663_T_G",".","VCV000291285","not provided","Uncertain significance(Last reviewed: Sep 23, 2016)","criteria provided, single submitter","c.1210-32T>G","N"]
["LB",0,"VUS","LB",7,117188675,"TGTGTGTG","T",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon10:c.1210-19_1210-13del:","0|0|0","0|0",".",".",".",".",".",".","117188675_TGTGTGTG_T",".",{"$nulls":4},"c.1210-19_1210-13del","N"]
["VUS",1,"VUS","VUS?-rare",7,117188676,"GTGTGTGT","G",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon10:c.1210-18_1210-12del:","0|0|0","0|0",".",".",".",".",".",".","117188676_GTGTGTGT_G",".",{"$nulls":4},"c.1210-18_1210-12del","N"]
["LB",1,"LB","LB",7,117188679,"TG","T","rs371831442","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon10:c.1210-15del:","38|0|0.000313821353065539","0|0",".",".",".",".",".",".","117188679_TG_T",".","VCV000818610","Inborn genetic diseases","Likely benign(Last reviewed: Sep 29, 2018)","criteria provided, single submitter","c.1210-15del","N"]
["LB",0,"VUS","LB",7,117188680,"G","T",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon10:c.1210-15G>T:","38|0|0.000313821353065539","0|0",".",".",".",".",".",".","117188680_G_T",".","VCV000502598","not provided","Uncertain significance(Last reviewed: Jun 26, 2017)","criteria provided, single submitter","c.1210-15G>T","N"]
["LB",1,"LB","LB",7,117188680,"G","GTA",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon10:c.1210-15_1210-14insTA:","2|0|1.65700082850041e-05","0|0",".",".",".",".",".",".","117188680_G_GTA",".",{"$nulls":4},"c.1210-15_1210-14insTA","N"]
["LB",1,"LB","LB",7,117188681,"TG","T",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon10:c.1210-13del:","54|0|0.000458365164247517","0|0",".",".",".",".",".",".","117188681_TG_T",".",{"$nulls":4},"c.1210-13del","N"]
["VUS",1,"VUS","VUS?-rare",7,117188682,"GT","G",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon10:c.1210-12del:","25|0|0.000206243400211193","0|0",".",".",".",".",".",".","117188682_GT_G",".","VCV000495892","not specified|not provided","Uncertain significance(Last reviewed: Jan 17, 2020)","criteria provided, single submitter","c.1210-12del","N"]
["VUS",1,"VUS","VUS?-rare",7,117188682,"G","GTGTT",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon10:c.1210-13_1210-12insTGTT:","9|0|7.42476240760296e-05","0|0",".",".",".",".",".",".","117188682_G_GTGTT",".",{"$nulls":4},"c.1210-13_1210-12insTGTT","N"]
["VUS",0,"LB","VUS",7,117188684,"T","TG",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon10:c.1210-11_1210-10insG:","7|0|6.02793517386287e-05","0.00199681|0",".",".",".",".",".",".","117188684_T_TG",".","VCV000802357","Cystic fibrosis","Pathogenic(Last reviewed: May 28, 2019)","criteria provided, single submitter","c.1210-11_1210-10insG","N"]
["VUS",0,"LB","VUS-PS4(PMID: 29997923?)",7,117188684,"T","G","rs73715573","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon10:c.1210-11T>G:","7|0|6.02793517386287e-05","0.00199681|0",".",".",".",".",".",".","117188684_T_G","DM","VCV000178713","not provided|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|not specified|Inborn genetic diseases","Conflicting interpretations of pathogenicity, other(Last reviewed: Aug 1, 2021)","criteria provided, conflicting interpretations","c.1210-11T>G","N"]
["VUS",1,"VUS","VUS?-rare",7,117188684,"T","TGTG",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon10:c.1210-11_1210-10insGTG:","0|0|0","0|0",".",".",".",".",".",".","117188684_T_TGTG",".",{"$nulls":4},"c.1210-11_1210-10insGTG","N"]
["LB",1,"LB","LB",7,117188689,"T","TA",".","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon10:c.1210-6_1210-5insA:","0|0|0","0|0",".",".",".",".",".",".","117188689_T_TA",".",{"$nulls":4},"c.1210-6_1210-5insA","N"]
["VUS",0,"LB","VUS",7,117188689,"T","A",".","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon10:c.1210-6T>A:","9|0|7.41693037974684e-05","0|0",".",".",".",".",".",".","117188689_T_A","DM","VCV000810947","not specified","Likely benign(Last reviewed: Dec 6, 2018)","criteria provided, single submitter","c.1210-6T>A","N"]
["VUS",1,"VUS","VUS",7,117188690,"A","C",".","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon10:c.1210-5A>C:","0|0|0","0|0",".",".",".",".",".",".","117188690_A_C",".",{"$nulls":4},"c.1210-5A>C","N"]
["VUS",0,"P/LP","VUS",7,117188692,"C","G",".","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon10:c.1210-3C>G:","0|0|0","0|0",".",".",".",".",".",".","117188692_C_G",".",{"$nulls":4},"c.1210-3C>G","N"]
["VUS",1,"VUS","VUS",7,117188696,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon10:c.G1211A:p.G404E","missense_variant","CFTR","CFTR:NM_000492:exon10:c.1211G>A:p.Gly404Glu","0|0|0","0|0","0.31","T","0.718","P","1.0","D","117188696_G_A",".",{"$nulls":4},"p.G404E","N"]
["VUS",1,"VUS","VUS",7,117188704,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon10:c.G1219A:p.E407K","missense_variant","CFTR","CFTR:NM_000492:exon10:c.1219G>A:p.Glu407Lys","3|0|2.47226937847148e-05","0|0","0.16","T","0.003","B","1.0","D","117188704_G_A",".","VCV000928981","not specified|Cystic fibrosis","Uncertain significance(Last reviewed: Jan 28, 2019)","criteria provided, multiple submitters, no conflicts","p.E407K","N"]
["VUS",0,"VUS","VUS",7,117188716,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon10:c.A1231G:p.K411E","missense_variant","CFTR","CFTR:NM_000492:exon10:c.1231A>G:p.Lys411Glu","3|0|2.47292150947129e-05","0|0","0.14","T","0.06","B","1.0","D","117188716_A_G","DM?","VCV000502578","not provided","Uncertain significance(Last reviewed: Aug 30, 2018)","criteria provided, single submitter","p.K411E","N"]
["P/LP",1,"P/LP","P/LP",7,117188725,"C","T",".","CFTR","stopgain SNV","CFTR","CFTR:NM_000492:exon10:c.C1240T:p.Q414X","stop_gained","CFTR","CFTR:NM_000492:exon10:c.1240C>T:p.Gln414Ter","0|0|0","0|0","0.62","T",".",".","1.0","D","117188725_C_T","DM","VCV000053222","Cystic fibrosis|not provided|none provided","Pathogenic(Last reviewed: Mar 17, 2017)","reviewed by expert panel","p.Q414X","Y"]
["P/LP",0,"P/LP","LP-PVS1+PM2_Supp",7,117188727,"A","AAACAAAC",".","CFTR","frameshift substitution","CFTR","CFTR:NM_000492:exon10:c.1242_1242delinsAAACAAAC","frameshift_variant","CFTR","CFTR:NM_000492:exon10:c.1242_1243insAACAAAC:p.Asn416LysfsTer4","0|0|0","0|0",".",".",".",".",".",".","117188727_A_AAACAAAC",".",{"$nulls":4},"p.Asn416LysfsTer4","N"]
["VUS",1,"VUS","VUS",7,117188737,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon10:c.A1252G:p.N418D","missense_variant","CFTR","CFTR:NM_000492:exon10:c.1252A>G:p.Asn418Asp","0|0|0","0|0","0.9","T","0.0","B","0.0","N","117188737_A_G",".",{"$nulls":4},"p.N418D","N"]
["LB",1,"LB","LB",7,117188739,"T","C",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon10:c.T1254C:p.N418N","synonymous_variant","CFTR","CFTR:NM_000492:exon10:c.1254T>C:p.Asn418=","0|0|0","0|0",".",".",".",".",".",".","117188739_T_C",".","VCV000193588","Cystic fibrosis|not specified|not provided","Benign/Likely benign(Last reviewed: Dec 17, 2018)","criteria provided, multiple submitters, no conflicts","p.N418N","N"]
["VUS",1,"VUS","VUS",7,117188759,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon10:c.A1274G:p.D425G","missense_variant","CFTR","CFTR:NM_000492:exon10:c.1274A>G:p.Asp425Gly","0|0|0","0|0","0.05","D","0.41","B","1.0","D","117188759_A_G",".",{"$nulls":4},"p.D425G","N"]
["VUS",1,"VUS","VUS",7,117188763,"C","T",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon10:c.C1278T:p.D426D","synonymous_variant","CFTR","CFTR:NM_000492:exon10:c.1278C>T:p.Asp426=","0|0|0","0|0",".",".",".",".",".",".","117188763_C_T",".","VCV000990534","Cystic fibrosis","Uncertain significance(Last reviewed: Jul 2, 2020)","no assertion criteria provided","p.D426D","N"]
["VUS",0,"LB","VUS",7,117188772,"C","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon10:c.C1287A:p.F429L","missense_variant","CFTR","CFTR:NM_000492:exon10:c.1287C>A:p.Phe429Leu","0|0|0","0|0","0.26","T","0.005","B","1.0","D","117188772_C_A",".","VCV000966693","Cystic fibrosis","Uncertain significance(Last reviewed: Nov 2, 2019)","criteria provided, single submitter","p.F429L","N"]
["VUS",1,"VUS","VUS",7,117188815,"A","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon10:c.A1330T:p.I444F","missense_variant","CFTR","CFTR:NM_000492:exon10:c.1330A>T:p.Ile444Phe","0|0|0","0|0","0","D","0.998","D","1.0","D","117188815_A_T",".",{"$nulls":4},"p.I444F","N"]
["VUS",1,"VUS","VUS",7,117188823,"C","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon10:c.C1338A:p.F446L","missense_variant","CFTR","CFTR:NM_000492:exon10:c.1338C>A:p.Phe446Leu","0|0|0","0|0","0.51","T","0.007","B","1.0","D","117188823_C_A",".",{"$nulls":4},"p.F446L","N"]
["VUS",1,"VUS","VUS",7,117188828,"T","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon10:c.T1343C:p.I448T","missense_variant","CFTR","CFTR:NM_000492:exon10:c.1343T>C:p.Ile448Thr","0|0|0","0|0","0.01","D","0.202","B","1.0","D","117188828_T_C",".","VCV000526015","not specified|Cystic fibrosis","Uncertain significance(Last reviewed: Feb 5, 2018)","criteria provided, multiple submitters, no conflicts","p.I448T","N"]
["VUS",1,"VUS","VUS-PM2_Supp+PM5+PP3",7,117188836,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon10:c.G1351A:p.G451R","missense_variant","CFTR","CFTR:NM_000492:exon10:c.1351G>A:p.Gly451Arg","0|0|0","0|0","0.01","D","1.0","D","1.0","D","117188836_G_A","DM",{"$nulls":4},"p.G451R","N"]
["VUS",1,"VUS","VUS",7,117188849,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon10:c.C1364T:p.A455V","missense_variant","CFTR","CFTR:NM_000492:exon10:c.1364C>T:p.Ala455Val","7|0|5.76729777382306e-05","0|0","0","D","0.909","D","1.0","D","117188849_C_T","DM?","VCV000411125","Inborn genetic diseases|Cystic fibrosis|not specified|not provided","Conflicting interpretations of pathogenicity(Last reviewed: Jul 22, 2021)","criteria provided, conflicting interpretations","p.A455V","N"]
["LB",0,"VUS","LB",7,117188850,"G","A","rs79074685","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon10:c.G1365A:p.A455A","synonymous_variant","CFTR","CFTR:NM_000492:exon10:c.1365G>A:p.Ala455=","57|0|0.000469615080411284","0.000998403|0",".",".",".",".",".",".","117188850_G_A",".","VCV000035820","Inborn genetic diseases|CFTR-related disorders|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|not specified|not provided","Conflicting interpretations of pathogenicity(Last reviewed: Jul 22, 2021)","criteria provided, conflicting interpretations","p.A455A","N"]
["VUS",1,"VUS","VUS",7,117188863,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon10:c.A1378G:p.T460A","missense_variant","CFTR","CFTR:NM_000492:exon10:c.1378A>G:p.Thr460Ala","0|0|0","0|0","0.03","D","0.554","P","1.0","D","117188863_A_G",".",{"$nulls":4},"p.T460A","N"]
["VUS",1,"VUS","VUS-PM2_Supp+PM5+PP3",7,117188875,"A","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon10:c.A1390C:p.K464Q","missense_variant","CFTR","CFTR:NM_000492:exon10:c.1390A>C:p.Lys464Gln","0|0|0","0|0","0","D","0.91","D","1.0","D","117188875_A_C","DM",{"$nulls":4},"p.K464Q","N"]
["VUS",1,"VUS","VUS-PS3(PMID:25403292-IF2.46)_M+PS4_M",7,117188877,"G","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon10:c.G1392T:p.K464N","missense_variant","CFTR","CFTR:NM_000492:exon10:c.1392G>T:p.Lys464Asn","0|0|0","0|0","0","D","0.989","D","1.0","D","117188877_G_T","DM","VCV000053240","Cystic fibrosis|Hereditary pancreatitis|not provided","Pathogenic(Last reviewed: Oct 3, 2019)","criteria provided, multiple submitters, no conflicts","p.K464N","N"]
["LB",0,"VUS","LB",7,117188882,"T","TC",".","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon10:c.1392+5_1392+6insC:","0|0|0","0|0",".",".",".",".",".",".","117188882_T_TC",".",{"$nulls":4},"c.1392+5_1392+6insC","N"]
["B/LB",1,"B/LB","B/LB",7,117199476,"G","A","rs34906874","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon11:c.1393-42G>A:","502|13|0.00413475002059138","0.00219649|0",".",".",".",".",".",".","117199476_G_A","DM?","VCV000237854","not specified|Cystic fibrosis|not provided","Benign(Last reviewed: Oct 11, 2017)","criteria provided, multiple submitters, no conflicts","c.1393-42G>A","N"]
["VUS",1,"VUS","VUS",7,117199514,"C","A",".","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon11:c.1393-4C>A:","0|0|0","0|0",".",".",".",".",".",".","117199514_C_A",".","VCV001101735","Cystic fibrosis","Likely benign(Last reviewed: Jul 19, 2020)","criteria provided, single submitter","c.1393-4C>A","N"]
["VUS",1,"VUS","VUS",7,117199515,"C","A",".","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon11:c.1393-3C>A:","1|0|8.23641814647646e-06","0|0",".",".",".",".",".",".","117199515_C_A",".",{"$nulls":4},"c.1393-3C>A","N"]
["P/LP",1,"P/LP","P/LP",7,117199522,"C","G","rs121908805","CFTR","stopgain SNV","CFTR","CFTR:NM_000492:exon11:c.C1397G:p.S466X","stop_gained","CFTR","CFTR:NM_000492:exon11:c.1397C>G:p.Ser466Ter","1|0|8.23641814647646e-06","0|0","0","D",".",".","1","A","117199522_C_G","DM","VCV000035822","Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Obstructive azoospermia|not provided","Pathogenic(Last reviewed: Mar 17, 2017)","reviewed by expert panel","p.S466X","Y"]
["VUS",1,"VUS","VUS",7,117199527,"C","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon11:c.C1402G:p.L468V","missense_variant","CFTR","CFTR:NM_000492:exon11:c.1402C>G:p.Leu468Val","0|0|0","0|0","0.14","T","0.998","D","0.997","D","117199527_C_G",".",{"$nulls":4},"p.L468V","N"]
["P/LP",0,"VUS","LP-PS4(PMID:29216686+23953609+22299590)+PM2_S+PP3",7,117199530,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon11:c.A1405G:p.M469V","missense_variant","CFTR","CFTR:NM_000492:exon11:c.1405A>G:p.Met469Val","2|0|1.64728362929529e-05","0|0","0.18","T","0.993","D","1.000","D","117199530_A_G","DM","VCV000053248","Cystic fibrosis|Cystic fibrosis|CFTR-related disorders","Pathogenic(Last reviewed: Mar 26, 2018)","criteria provided, single submitter","p.M469V","N"]
["VUS",1,"VUS","VUS",7,117199532,"G","T","rs143218779","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon11:c.G1407T:p.M469I","missense_variant","CFTR","CFTR:NM_000492:exon11:c.1407G>T:p.Met469Ile","3|0|2.47092544394294e-05","0|0","0.14","T","0.995","D","1.000","D","117199532_G_T","DM","VCV000053249","Cystic fibrosis","not provided","no assertion provided","p.M469I","N"]
["VUS",1,"VUS","VUS",7,117199534,"T","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon11:c.T1409A:p.V470E","missense_variant","CFTR","CFTR:NM_000492:exon11:c.1409T>A:p.Val470Glu","0|0|0","0|0","0.05","D","0.116","B","0.065","N","117199534_T_A","DM",{"$nulls":4},"p.V470E","N"]
["VUS",1,"VUS","VUS",7,117199578,"A","T","rs138427145","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon11:c.A1453T:p.S485C","missense_variant","CFTR","CFTR:NM_000492:exon11:c.1453A>T:p.Ser485Cys","9|0|7.41277633182881e-05","0.000199681|0","0.01","D","0.999","D","1.000","D","117199578_A_T","DM","VCV000053258","Cystic fibrosis","Uncertain significance(Last reviewed: Apr 5, 2017)","criteria provided, single submitter","p.S485C","N"]
["VUS",1,"VUS","VUS",7,117199578,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon11:c.A1453G:p.S485G","missense_variant","CFTR","CFTR:NM_000492:exon11:c.1453A>G:p.Ser485Gly","0|0|0","0|0","0.07","T","0.993","D","1.000","D","117199578_A_G",".",{"$nulls":4},"p.S485G","N"]
["VUS",1,"VUS","VUS",7,117199613,"G","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon11:c.G1488T:p.W496C","missense_variant","CFTR","CFTR:NM_000492:exon11:c.1488G>T:p.Trp496Cys","0|0|0","0|0","0","D","1.0","D","1.0","D","117199613_G_T","DM",{"$nulls":4},"p.W496C","N"]
["VUS",1,"VUS","VUS",7,117199613,"G","C","rs200626971","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon11:c.G1488C:p.W496C","missense_variant","CFTR","CFTR:NM_000492:exon11:c.1488G>C:p.Trp496Cys","0|0|0","0.000199681|0","0","D","1.0","D","1.0","D","117199613_G_C",".",{"$nulls":4},"p.W496C","N"]
["VUS",1,"VUS","VUS",7,117199614,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon11:c.A1489G:p.I497V","missense_variant","CFTR","CFTR:NM_000492:exon11:c.1489A>G:p.Ile497Val","0|0|0","0|0","0.33","T","0.868","P","1.000","D","117199614_A_G","DM",{"$nulls":4},"p.I497V","N"]
["LB",1,"LB","LB",7,117199625,"C","A",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon11:c.C1500A:p.G500G","synonymous_variant","CFTR","CFTR:NM_000492:exon11:c.1500C>A:p.Gly500=","7|0|5.76549270253352e-05","0|0",".",".",".",".",".",".","117199625_C_A",".","VCV000495899","Cystic fibrosis|Inborn genetic diseases|not specified","Likely benign(Last reviewed: Dec 4, 2020)","criteria provided, multiple submitters, no conflicts","p.G500G","N"]
["P/LP",1,"P/LP","P/LP",7,117199644,"ATCT","A","rs113993960","CFTR","nonframeshift substitution","CFTR","CFTR:NM_000492:exon11:c.1519_1522A","inframe_deletion","CFTR","CFTR:NM_000492:exon11:c.1520_1522del:p.Phe508del","823|0|0.00677857213455013","0.00399361|0",".",".",".",".",".",".","117199644_ATCT_A","DM","VCV000007105","Hereditary pancreatitis|Inborn genetic diseases|Bronchiectasis with or without elevated sweat chloride 1, modifier of|Cystic fibrosis|ivacaftor response - Efficacy|ivacaftor / lumacaftor response - Efficacy|not specified|Recurrent pancreatitis|Obstructive azoospermia|Duodenal stenosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|not provided","Pathogenic(Last reviewed: Mar 3, 2004)","practice guideline","p.F508del","Y"]
["VUS",1,"VUS","VUS",7,117199660,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon11:c.A1535G:p.Y512C","missense_variant","CFTR","CFTR:NM_000492:exon11:c.1535A>G:p.Tyr512Cys","0|0|0","0|0","0","D","0.967","D","1.000","D","117199660_A_G",".",{"$nulls":4},"p.Y512C","N"]
["VUS",1,"VUS","VUS",7,117199668,"T","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon11:c.T1543C:p.Y515H","missense_variant","CFTR","CFTR:NM_000492:exon11:c.1543T>C:p.Tyr515His","2|0|1.64728362929529e-05","0|0","0.5","T","0.993","D","1.000","D","117199668_T_C","DM","VCV000550738","Cystic fibrosis","Uncertain significance(Last reviewed: Feb 10, 2017)","criteria provided, single submitter","p.Y515H","N"]
["VUS",1,"VUS","VUS-PS4_M+PM2_S+PP3",7,117199683,"G","A","rs77646904","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon11:c.G1558A:p.V520I","missense_variant","CFTR","CFTR:NM_000492:exon11:c.1558G>A:p.Val520Ile","19|0|0.000156491944783053","0.000998403|0","0.02","D","0.088","B","1.000","D","117199683_G_A","DM","VCV000035825","not provided|CFTR-related disorders|Inborn genetic diseases|not specified|none provided|Cystic fibrosis","Uncertain significance(Last reviewed: Apr 30, 2021)","criteria provided, multiple submitters, no conflicts","p.V520I","N"]
["P/LP",1,"P/LP","P/LP",7,117199697,"C","A","rs121908754","CFTR","stopgain SNV","CFTR","CFTR:NM_000492:exon11:c.C1572A:p.C524X","stop_gained","CFTR","CFTR:NM_000492:exon11:c.1572C>A:p.Cys524Ter","0|0|0","0|0","1","T",".",".","1","A","117199697_C_A","DM","VCV000007151","Cystic fibrosis","Pathogenic(Last reviewed: Mar 17, 2017)","reviewed by expert panel","p.C524X","Y"]
["VUS",1,"VUS","VUS: phenotype-Hypertrypsinaemia",7,117227774,"T","G",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon12:c.1585-19T>G:","0|0|0","0|0",".",".",".",".",".",".","117227774_T_G",".",{"$nulls":4},"c.1585-19T>G","N"]
["VUS",1,"VUS","VUS",7,117227794,"A","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon12:c.A1586C:p.D529A","missense_variant","CFTR","CFTR:NM_000492:exon12:c.1586A>C:p.Asp529Ala","0|0|0","0|0","0","D","0.825","P","1.0","D","117227794_A_C",".",{"$nulls":4},"p.D529A","N"]
["VUS",1,"VUS","VUS",7,117227794,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon12:c.A1586G:p.D529G","missense_variant","CFTR","CFTR:NM_000492:exon12:c.1586A>G:p.Asp529Gly","0|0|0","0|0","0","D","0.953","D","1.0","D","117227794_A_G","DM","VCV000053293","not provided","Uncertain significance(Last reviewed: Dec 4, 2017)","criteria provided, single submitter","p.D529G","N"]
["VUS",1,"VUS","VUS",7,117227824,"T","C","rs144745159","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon12:c.T1616C:p.I539T","missense_variant","CFTR","CFTR:NM_000492:exon12:c.1616T>C:p.Ile539Thr","4|0|3.29483863527784e-05","0.000199681|0","1","T","0.001","B","0.051","N","117227824_T_C","DM","VCV000598095","not provided","Uncertain significance(Last reviewed: Jul 19, 2018)","criteria provided, single submitter","p.I539T","N"]
["VUS",1,"VUS","VUS",7,117227826,"G","A","rs187318937","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon12:c.G1618A:p.V540I","missense_variant","CFTR","CFTR:NM_000492:exon12:c.1618G>A:p.Val540Ile","0|0|0","0.000199681|0","0.38","T","0.002","B","0.023","N","117227826_G_A",".","VCV000801150","not provided","Uncertain significance(Last reviewed: Feb 12, 2019)","criteria provided, single submitter","p.V540I","N"]
["P/LP",1,"P/LP","P/LP",7,117227865,"C","T","rs74597325","CFTR","stopgain SNV","CFTR","CFTR:NM_000492:exon12:c.C1657T:p.R553X","stop_gained","CFTR","CFTR:NM_000492:exon12:c.1657C>T:p.Arg553Ter","15|0|0.00012356255560315","0.000199681|0","1","T",".",".","1","A","117227865_C_T","DM","VCV000007122","Cystic fibrosis|Inborn genetic diseases|not specified|not provided|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|none provided|Hereditary pancreatitis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Bronchiectasis with or without elevated sweat chloride 1|Cystic fibrosis","Pathogenic(Last reviewed: Mar 3, 2004)","practice guideline","p.R553X","Y"]
["LB",1,"LB","LB",7,117227866,"G","A","rs121909044","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon12:c.G1658A:p.R553Q","missense_variant","CFTR","CFTR:NM_000492:exon12:c.1658G>A:p.Arg553Gln","0|0|0","0|0","0.01","D","0.981","D","1.000","A","117227866_G_A","DM","VCV000007225","Cystic fibrosis","Uncertain significance(Last reviewed: Jun 14, 2017)","criteria provided, single submitter","p.R553Q","N"]
["VUS",1,"VUS","VUS",7,117227874,"A","G","rs75789129","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon12:c.A1666G:p.I556V","missense_variant","CFTR","CFTR:NM_000492:exon12:c.1666A>G:p.Ile556Val","349|12|0.00287503089216575","0.0111821|1","0.88","T","0.333","B","0.999","A","117227874_A_G","DM","VCV000007196","Cystic fibrosis|not specified|CFTR-related disorders|Inborn genetic diseases|not provided|none provided","Conflicting interpretations of pathogenicity(Last reviewed: Sep 7, 2021)","criteria provided, conflicting interpretations","p.I556V","N"]
["VUS",1,"VUS","VUS?-rare",7,117227877,"T","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon12:c.T1669A:p.S557T","missense_variant","CFTR","CFTR:NM_000492:exon12:c.1669T>A:p.Ser557Thr","1|0|8.23804659439154e-06","0|0","0.12","T","0.386","B","0.998","D","117227877_T_A","DM",{"$nulls":4},"p.S557T","N"]
["P/LP",1,"P/LP","P/LP",7,117227887,"G","C","rs80055610","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon12:c.G1679C:p.R560T","missense_variant","CFTR","CFTR:NM_000492:exon12:c.1679G>C:p.Arg560Thr","1|0|8.2387253044209e-06","0|0","0","D","1.0","D","1.0","D","117227887_G_C","DM","VCV000007113","Cystic fibrosis|not specified|not provided|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|none provided","Pathogenic(Last reviewed: Mar 3, 2004)","practice guideline","p.R560T","Y"]
["P/LP",1,"P/LP","LP",7,117230394,"A","T",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon13:c.1680-13A>T:","0|0|0","0|0",".",".",".",".",".",".","117230394_A_T",".",{"$nulls":4},"c.1680-13A>T","N"]
["VUS",1,"VUS","VUS",7,117230417,"A","G","rs371291116","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon13:c.A1690G:p.K564E","missense_variant","CFTR","CFTR:NM_000492:exon13:c.1690A>G:p.Lys564Glu","1|0|8.23804659439154e-06","0|0","0.04","D","0.959","D","1.000","D","117230417_A_G",".",{"$nulls":4},"p.K564E","N"]
["VUS",1,"VUS","VUS",7,117230422,"T","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon13:c.T1695A:p.D565E","missense_variant","CFTR","CFTR:NM_000492:exon13:c.1695T>A:p.Asp565Glu","0|0|0","0|0","0.19","T","0.938","D","1.0","D","117230422_T_A","DM",{"$nulls":4},"p.D565E","N"]
["VUS",1,"VUS","VUS",7,117230424,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon13:c.C1697T:p.A566V","missense_variant","CFTR","CFTR:NM_000492:exon13:c.1697C>T:p.Ala566Val","0|0|0","0|0","0","D","0.985","D","1.0","D","117230424_C_T",".",{"$nulls":4},"p.A566V","N"]
["P/LP",1,"P/LP","P/LP",7,117230481,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon13:c.A1754G:p.E585G","missense_variant","CFTR","CFTR:NM_000492:exon13:c.1754A>G:p.Glu585Gly","0|0|0","0|0","0.01","D","0.396","B","1.0","D","117230481_A_G",".",{"$nulls":4},"p.E585G","N"]
["P/LP",1,"P/LP","P/LP",7,117230495,"T","C",".","CFTR","splicing","CFTR",".","splice_donor_variant","CFTR","CFTR:NM_000492:exon13:c.1766+2T>C:","0|0|0","0|0",".",".",".",".","1.0","D","117230495_T_C","DM","VCV000558608","Cystic fibrosis","Pathogenic/Likely pathogenic(Last reviewed: Oct 16, 2019)","criteria provided, multiple submitters, no conflicts","c.1766+2T>C","N"]
["P/LP",1,"P/LP","P/LP",7,117230498,"G","T","rs121908796","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon13:c.1766+5G>T:","2|0|1.64820675105485e-05","0|0",".",".",".",".",".",".","117230498_G_T","DM","VCV000048685","Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|not provided|Cystic fibrosis","Pathogenic(Last reviewed: Mar 17, 2017)","reviewed by expert panel","c.1766+5G>T","Y"]
["VUS",1,"VUS","VUS",7,117231981,"C","A",".","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon14:c.1767-7C>A:","0|0|0","0|0",".",".",".",".",".",".","117231981_C_A",".",{"$nulls":4},"c.1767-7C>A","N"]
["VUS",1,"VUS","VUS",7,117232034,"T","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.T1813C:p.S605P","missense_variant","CFTR","CFTR:NM_000492:exon14:c.1813T>C:p.Ser605Pro","1|0|8.24035466486478e-06","0|0","0.04","D","0.982","D","1.000","D","117232034_T_C",".",{"$nulls":4},"p.S605P","N"]
["P/LP",1,"P/LP","P/LP",7,117232058,"G","A","rs201978662","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.G1837A:p.A613T","missense_variant","CFTR","CFTR:NM_000492:exon14:c.1837G>A:p.Ala613Thr","0|0|0","0.000199681|0","0.03","D","0.999","D","1.0","D","117232058_G_A","DM","VCV000053401","Cystic fibrosis","Pathogenic(Last reviewed: Aug 31, 2018)","reviewed by expert panel","p.A613T","N"]
["LP",1,"P/LP","LP",7,117232072,"A","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.A1851T:p.L617F","missense_variant","CFTR","CFTR:NM_000492:exon14:c.1851A>T:p.Leu617Phe","1|0|8.23682519809565e-06","0|0","0","D","0.999","D","1.000","D","117232072_A_T",".",{"$nulls":4},"p.L617F","N"]
["VUS",1,"VUS","VUS",7,117232079,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.C1858T:p.H620Y","missense_variant","CFTR","CFTR:NM_000492:exon14:c.1858C>T:p.His620Tyr","0|0|0","0|0","0.02","D","0.994","D","1.0","D","117232079_C_T",".",{"$nulls":4},"p.H620Y","N"]
["P/LP",1,"P/LP","P/LP",7,117232086,"G","A","rs121908759","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.G1865A:p.G622D","missense_variant","CFTR","CFTR:NM_000492:exon14:c.1865G>A:p.Gly622Asp","16|0|0.000131782690343623","0.000399361|0","0","D","1.0","D","1.0","D","117232086_G_A","DM","VCV000035833","Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Hereditary pancreatitis|Bronchiectasis with or without elevated sweat chloride 1|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Inborn genetic diseases|not provided|Cystic fibrosis|CFTR-related disorders","Conflicting interpretations of pathogenicity(Last reviewed: Jul 22, 2021)","criteria provided, conflicting interpretations","p.G622D","Y"]
["VUS",1,"VUS","VUS",7,117232111,"T","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.T1890G:p.F630L","missense_variant","CFTR","CFTR:NM_000492:exon14:c.1890T>G:p.Phe630Leu","0|0|0","0|0","0.01","D","0.975","D","1.0","D","117232111_T_G",".",{"$nulls":4},"p.F630L","N"]
["VUS",1,"VUS","VUS",7,117232115,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.G1894A:p.E632K","missense_variant","CFTR","CFTR:NM_000492:exon14:c.1894G>A:p.Glu632Lys","0|0|0","0|0","0.01","D","0.383","B","1.0","D","117232115_G_A",".",{"$nulls":4},"p.E632K","N"]
["VUS",1,"VUS","VUS",7,117232118,"C","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.C1897A:p.L633I","missense_variant","CFTR","CFTR:NM_000492:exon14:c.1897C>A:p.Leu633Ile","0|0|0","0|0","0.01","D","0.998","D","1.0","D","117232118_C_A","DM","VCV000053410","Cystic fibrosis","Uncertain significance(Last reviewed: May 18, 2021)","criteria provided, multiple submitters, no conflicts","p.L633I","N"]
["VUS",1,"VUS","VUS",7,117232127,"C","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.C1906G:p.L636V","missense_variant","CFTR","CFTR:NM_000492:exon14:c.1906C>G:p.Leu636Val","0|0|0","0|0","0.29","T","0.003","B","0.429","N","117232127_C_G",".",{"$nulls":4},"p.L636V","N"]
["VUS",1,"VUS","VUS",7,117232136,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.G1915A:p.D639N","missense_variant","CFTR","CFTR:NM_000492:exon14:c.1915G>A:p.Asp639Asn","0|0|0","0|0","0.03","D","0.159","B","1.0","D","117232136_G_A",".",{"$nulls":4},"p.D639N","N"]
["VUS",1,"VUS","VUS",7,117232155,"T","C","rs377731410","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.T1934C:p.M645T","missense_variant","CFTR","CFTR:NM_000492:exon14:c.1934T>C:p.Met645Thr","2|0|1.64728362929529e-05","0|0","0.46","T","0.072","B","1.000","D","117232155_T_C",".","VCV000993512","none provided","Uncertain significance(Last reviewed: Apr 20, 2020)","criteria provided, single submitter","p.M645T","N"]
["VUS",1,"VUS","VUS",7,117232161,"G","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.G1940T:p.C647F","missense_variant","CFTR","CFTR:NM_000492:exon14:c.1940G>T:p.Cys647Phe","0|0|0","0|0","0.66","T","0.0","B","0.013","N","117232161_G_T",".",{"$nulls":4},"p.C647F","N"]
["VUS",1,"VUS","VUS",7,117232163,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.G1942A:p.D648N","missense_variant","CFTR","CFTR:NM_000492:exon14:c.1942G>A:p.Asp648Asn","1|0|8.23641814647646e-06","0|0","0.07","T","0.154","B","1.000","D","117232163_G_A",".",{"$nulls":4},"p.D648N","N"]
["VUS",1,"VUS","VUS",7,117232171,"C","A","rs200204024","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.C1950A:p.F650L","missense_variant","CFTR","CFTR:NM_000492:exon14:c.1950C>A:p.Phe650Leu","2|0|1.64728362929529e-05","0.000199681|0","0.17","T","0.69","P","1.000","D","117232171_C_A","DM?","VCV000550836","Cystic fibrosis|Inborn genetic diseases","Uncertain significance(Last reviewed: May 18, 2021)","criteria provided, multiple submitters, no conflicts","p.F650L","N"]
["LB",1,"LB","LB",7,117232171,"C","T","rs200204024","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon14:c.C1950T:p.F650F","synonymous_variant","CFTR","CFTR:NM_000492:exon14:c.1950C>T:p.Phe650=","3|0|2.47092544394294e-05","0|0",".",".",".",".",".",".","117232171_C_T",".","VCV000495906","Cystic fibrosis|Inborn genetic diseases|not specified","Likely benign(Last reviewed: Nov 24, 2020)","criteria provided, multiple submitters, no conflicts","p.F650F","N"]
["VUS",1,"VUS","VUS",7,117232172,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.G1951A:p.D651N","missense_variant","CFTR","CFTR:NM_000492:exon14:c.1951G>A:p.Asp651Asn","3|0|2.47092544394294e-05","0|0","0","D","0.998","D","1.0","D","117232172_G_A","DM","VCV000820398","Inborn genetic diseases|not specified","Uncertain significance(Last reviewed: Oct 14, 2019)","criteria provided, multiple submitters, no conflicts","p.D651N","N"]
["VUS",1,"VUS","VUS",7,117232201,"A","G",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon14:c.A1980G:p.S660S","synonymous_variant","CFTR","CFTR:NM_000492:exon14:c.1980A>G:p.Ser660=","0|0|0","0|0",".",".",".",".",".",".","117232201_A_G",".",{"$nulls":4},"p.S660S","N"]
["VUS",1,"VUS","VUS",7,117232209,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.C1988T:p.T663I","missense_variant","CFTR","CFTR:NM_000492:exon14:c.1988C>T:p.Thr663Ile","0|0|0","0|0","0.01","D","0.996","D","1.0","D","117232209_C_T",".",{"$nulls":4},"p.T663I","N"]
["VUS",1,"VUS","VUS",7,117232213,"G","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.G1992T:p.E664D","missense_variant","CFTR","CFTR:NM_000492:exon14:c.1992G>T:p.Glu664Asp","0|0|0","0|0","0.16","T","0.999","D","1.000","D","117232213_G_T",".",{"$nulls":4},"p.E664D","N"]
["VUS",1,"VUS","VUS",7,117232224,"G","A","rs199623561","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.G2003A:p.R668H","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2003G>A:p.Arg668His","6|0|4.94193229552755e-05","0.000199681|0","0.01","D","0.999","D","1.0","D","117232224_G_A",".",{"$nulls":4},"p.R668H","N"]
["VUS",1,"VUS","VUS",7,117232238,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.G2017A:p.G673R","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2017G>A:p.Gly673Arg","0|0|0","0|0","0.34","T","0.827","P","0.968","D","117232238_G_A",".",{"$nulls":4},"p.G673R","N"]
["VUS",1,"VUS","VUS",7,117232239,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.G2018A:p.G673E","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2018G>A:p.Gly673Glu","0|0|0","0|0","0.84","T","0.07","B","0.960","D","117232239_G_A",".",{"$nulls":4},"p.G673E","N"]
["VUS",1,"VUS","VUS",7,117232247,"C","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.C2026G:p.P676A","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2026C>G:p.Pro676Ala","1|0|8.23668950975224e-06","0|0","0.49","T","0.001","B","0.0","N","117232247_C_G",".","VCV000820539","Cystic fibrosis|Inborn genetic diseases","Conflicting interpretations of pathogenicity(Last reviewed: Jul 22, 2021)","criteria provided, conflicting interpretations","p.P676A","N"]
["VUS",1,"VUS","VUS",7,117232247,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.C2026T:p.P676S","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2026C>T:p.Pro676Ser","1|0|8.23668950975224e-06","0|0","1","T","0.001","B","0.0","N","117232247_C_T",".",{"$nulls":4},"p.P676S","N"]
["VUS",1,"VUS","VUS",7,117232250,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.G2029A:p.V677I","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2029G>A:p.Val677Ile","0|0|0","0|0","0.51","T","0.003","B","0.0","N","117232250_G_A",".",{"$nulls":4},"p.V677I","N"]
["P/LP",1,"P/LP","P/LP",7,117232257,"G","A",".","CFTR","stopgain SNV","CFTR","CFTR:NM_000492:exon14:c.G2036A:p.W679X","stop_gained","CFTR","CFTR:NM_000492:exon14:c.2036G>A:p.Trp679Ter","0|0|0","0|0","0.21","T",".",".","1","A","117232257_G_A","DM","VCV000053429","Cystic fibrosis","Pathogenic/Likely pathogenic(Last reviewed: Apr 27, 2020)","criteria provided, multiple submitters, no conflicts","p.W679X","N"]
["VUS",1,"VUS","VUS",7,117232263,"A","T","rs201295415","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.A2042T:p.E681V","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2042A>T:p.Glu681Val","17|0|0.00014003294892916","0.000199681|0","0.03","D","0.704","P","1.000","D","117232263_A_T","DM?","VCV000287205","not specified|not provided|Cystic fibrosis|Inborn genetic diseases","Uncertain significance(Last reviewed: Apr 27, 2020)","criteria provided, multiple submitters, no conflicts","p.E681V","N"]
["P/LP",1,"P/LP","P/LP",7,117232266,"C","CA","rs121908786","CFTR","frameshift substitution","CFTR","CFTR:NM_000492:exon14:c.2045_2045delinsCA","frameshift_variant","CFTR","CFTR:NM_000492:exon14:c.2045_2046insA:p.Gln685ThrfsTer4","3|0|2.47116968698517e-05","0|0",".",".",".",".",".",".","117232266_C_CA","DM","VCV000035838","Inborn genetic diseases|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|not provided|Cystic fibrosis|not specified","Pathogenic(Last reviewed: Mar 17, 2017)","reviewed by expert panel","p.Q685fs","Y"]
["VUS",1,"VUS","VUS",7,117232275,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.A2054G:p.Q685R","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2054A>G:p.Gln685Arg","0|0|0","0|0","0.17","T","0.297","B","0.997","D","117232275_A_G",".",{"$nulls":4},"p.Q685R","N"]
["VUS",1,"VUS","VUS",7,117232282,"T","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.T2061G:p.F687L","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2061T>G:p.Phe687Leu","0|0|0","0|0","0.68","T","0.999","D","1.000","D","117232282_T_G",".",{"$nulls":4},"p.F687L","N"]
["VUS",1,"VUS","VUS",7,117232332,"C","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.C2111G:p.P704R","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2111C>G:p.Pro704Arg","0|0|0","0|0","0.01","D","0.384","B","1.000","D","117232332_C_G",".",{"$nulls":4},"p.P704R","N"]
["VUS",1,"VUS","VUS",7,117232341,"C","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.C2120G:p.S707C","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2120C>G:p.Ser707Cys","0|0|0","0|0","0.02","D","0.841","P","0.992","D","117232341_C_G",".","VCV000967562","Cystic fibrosis","Uncertain significance(Last reviewed: Oct 22, 2019)","criteria provided, single submitter","p.S707C","N"]
["VUS",1,"VUS","VUS",7,117232341,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.C2120T:p.S707F","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2120C>T:p.Ser707Phe","0|0|0","0|0","0.16","T","0.797","P","0.997","D","117232341_C_T",".",{"$nulls":4},"p.S707F","N"]
["VUS",1,"VUS","VUS",7,117232345,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.A2124G:p.I708M","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2124A>G:p.Ile708Met","0|0|0","0|0","0.13","T","0.005","B","0.0","N","117232345_A_G",".",{"$nulls":4},"p.I708M","N"]
["VUS",1,"VUS","VUS",7,117232361,"G","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.G2140T:p.V714L","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2140G>T:p.Val714Leu","1|0|8.23641814647646e-06","0|0","0.16","T","0.031","B","0.0","N","117232361_G_T",".",{"$nulls":4},"p.V714L","N"]
["VUS",1,"VUS","VUS",7,117232368,"A","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.A2147C:p.K716T","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2147A>C:p.Lys716Thr","0|0|0","0|0","0.23","T","0.05","B","1.000","D","117232368_A_C",".",{"$nulls":4},"p.K716T","N"]
["VUS",1,"VUS","VUS",7,117232374,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.C2153T:p.P718L","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2153C>T:p.Pro718Leu","0|0|0","0|0","0.06","T","0.16","B","0.023","N","117232374_C_T",".",{"$nulls":4},"p.P718L","N"]
["VUS",1,"VUS","VUS",7,117232394,"G","A","rs199791061","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.G2173A:p.E725K","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2173G>A:p.Glu725Lys","11|0|9.06005996112411e-05","0.000199681|0","0.02","D","0.705","P","1.000","D","117232394_G_A","DM","VCV000053448","not provided|CFTR-related disorders|Inborn genetic diseases|Cystic fibrosis","Conflicting interpretations of pathogenicity(Last reviewed: Jul 22, 2021)","criteria provided, conflicting interpretations","p.E725K","N"]
["VUS",1,"VUS","VUS",7,117232435,"A","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.A2214T:p.L738F","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2214A>T:p.Leu738Phe","0|0|0","0|0","0.09","T","0.949","D","1.000","D","117232435_A_T",".",{"$nulls":4},"p.L738F","N"]
["VUS",1,"VUS","VUS",7,117232435,"A","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.A2214C:p.L738F","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2214A>C:p.Leu738Phe","0|0|0","0|0","0.09","T","0.949","D","1.000","D","117232435_A_C",".",{"$nulls":4},"p.L738F","N"]
["VUS",1,"VUS","VUS",7,117232468,"G","C",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon14:c.G2247C:p.L749L","synonymous_variant","CFTR","CFTR:NM_000492:exon14:c.2247G>C:p.Leu749=","0|0|0","0|0",".",".",".",".",".",".","117232468_G_C",".",{"$nulls":4},"p.L749L","N"]
["VUS",1,"VUS","VUS",7,117232470,"C","T","rs140455771","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.C2249T:p.P750L","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2249C>T:p.Pro750Leu","27|0|0.000222383289954864","0.000399361|0","0.31","T","0.167","B","1.0","D","117232470_C_T","DM","VCV000053460","Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|not provided|Hereditary pancreatitis|CFTR-related disorders|Inborn genetic diseases|not specified|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis","Conflicting interpretations of pathogenicity(Last reviewed: Jul 22, 2021)","criteria provided, conflicting interpretations","p.P750L","N"]
["LB",1,"LB","LB",7,117232481,"G","A","rs150157202","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.G2260A:p.V754M","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2260G>A:p.Val754Met","229|1|0.0018862329703639","0.000798722|0","0.48","T","0.014","B","0.0","N","117232481_G_A","DM?","VCV000053465","none provided|CFTR-related disorders|not specified|Cystic fibrosis|not provided|Inborn genetic diseases","Conflicting interpretations of pathogenicity(Last reviewed: Dec 8, 2020)","criteria provided, conflicting interpretations","p.V754M","N"]
["VUS",1,"VUS","VUS",7,117232500,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.C2279T:p.T760M","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2279C>T:p.Thr760Met","13|0|0.000107085783950312","0|0","0.48","T","0.009","B","0.000","N","117232500_C_T","DM","VCV000053467","Cystic fibrosis","Uncertain significance(Last reviewed: Apr 17, 2017)","criteria provided, single submitter","p.T760M","N"]
["P/LP",1,"P/LP","P/LP",7,117232511,"C","T","rs121908810","CFTR","stopgain SNV","CFTR","CFTR:NM_000492:exon14:c.C2290T:p.R764X","stop_gained","CFTR","CFTR:NM_000492:exon14:c.2290C>T:p.Arg764Ter","1|0|8.2384538069895e-06","0|0","0.97","T",".",".","1","A","117232511_C_T","DM","VCV000053471","Cystic fibrosis|not provided|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation","Pathogenic(Last reviewed: Mar 17, 2017)","reviewed by expert panel","p.R764X","Y"]
["VUS",1,"VUS","VUS",7,117232514,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.A2293G:p.R765G","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2293A>G:p.Arg765Gly","0|0|0","0|0","0.02","D","0.999","D","1.000","D","117232514_A_G",".",{"$nulls":4},"p.R765G","N"]
["VUS",1,"VUS","VUS",7,117232533,"A","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.A2312T:p.N771I","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2312A>T:p.Asn771Ile","0|0|0","0|0","0.04","D","0.673","P","0.203","N","117232533_A_T",".",{"$nulls":4},"p.N771I","N"]
["VUS",1,"VUS","VUS",7,117232544,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.C2323T:p.H775Y","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2323C>T:p.His775Tyr","2|0|1.65027394547495e-05","0|0","0.51","T","0.094","B","0.0","N","117232544_C_T",".","VCV000990537","Cystic fibrosis","Uncertain significance(Last reviewed: Jun 24, 2020)","no assertion criteria provided","p.H775Y","N"]
["VUS",1,"VUS","VUS",7,117232568,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.A2347G:p.I783V","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2347A>G:p.Ile783Val","5|0|4.13920990761284e-05","0|0","0.66","T","0.002","B","0.0","N","117232568_A_G",".",{"$nulls":4},"p.I783V","N"]
["VUS",1,"VUS","VUS",7,117232572,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.A2351G:p.H784R","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2351A>G:p.His784Arg","0|0|0","0|0","0.66","T","0.002","B","0.0","N","117232572_A_G",".",{"$nulls":4},"p.H784R","N"]
["P/LP",1,"P/LP","P/LP",7,117232595,"C","T",".","CFTR","stopgain SNV","CFTR","CFTR:NM_000492:exon14:c.C2374T:p.R792X","stop_gained","CFTR","CFTR:NM_000492:exon14:c.2374C>T:p.Arg792Ter","0|0|0","0|0","1","T",".",".","1","A","117232595_C_T","DM","VCV000053483","not specified|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Cystic fibrosis","Pathogenic(Last reviewed: Mar 17, 2017)","reviewed by expert panel","p.R792X","N"]
["VUS",1,"VUS","VUS",7,117232614,"C","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.C2393G:p.P798R","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2393C>G:p.Pro798Arg","0|0|0","0|0","0.23","T","0.952","D","1.0","D","117232614_C_G",".",{"$nulls":4},"p.P798R","N"]
["VUS",1,"VUS","VUS",7,117232619,"G","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.G2398T:p.A800S","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2398G>T:p.Ala800Ser","1|0|8.27979068689144e-06","0|0","0.76","T","0.002","B","0.0","N","117232619_G_T",".",{"$nulls":4},"p.A800S","N"]
["VUS",1,"VUS","VUS",7,117232624,"C","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.C2403G:p.N801K","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2403C>G:p.Asn801Lys","0|0|0","0|0","0.66","T","0.012","B","0.000","N","117232624_C_G",".",{"$nulls":4},"p.N801K","N"]
["VUS",0,"LB","VUS-PS4+PP3",7,117232642,"A","G","rs1800103","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.A2421G:p.I807M","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2421A>G:p.Ile807Met","106|1|0.000876917222323334","0|0","0.01","D","0.976","D","0.997","D","117232642_A_G","DM","VCV000035842","not provided|CFTR-related disorders|Cystic fibrosis|Inborn genetic diseases|not specified|Cystic fibrosis|Hereditary pancreatitis|Bronchiectasis with or without elevated sweat chloride 1|Congenital bilateral aplasia of vas deferens from CFTR mutation|none provided","Conflicting interpretations of pathogenicity(Last reviewed: Jul 22, 2021)","criteria provided, conflicting interpretations","p.I807M","N"]
["P/LP",1,"P/LP","LP-PVS1+PM2_Supp",7,117232693,"T","TAACG",".","CFTR","frameshift substitution","CFTR","CFTR:NM_000492:exon14:c.2472_2472delinsTAACG","frameshift_variant","CFTR","CFTR:NM_000492:exon14:c.2472_2473insAACG:p.Glu827ArgfsTer10","0|0|0","0|0",".",".",".",".",".",".","117232693_T_TAACG",".","VCV000552143","Cystic fibrosis","Pathogenic/Likely pathogenic(Last reviewed: Aug 16, 2020)","criteria provided, multiple submitters, no conflicts","p.E827fs","N"]
["VUS",1,"VUS","VUS",7,117232700,"G","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon14:c.G2479C:p.E827Q","missense_variant","CFTR","CFTR:NM_000492:exon14:c.2479G>C:p.Glu827Gln","0|0|0","0|0","0.08","T","0.137","B","1.0","D","117232700_G_C",".",{"$nulls":4},"p.E827Q","N"]
["VUS",1,"VUS","VUS",7,117232725,"G","T",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon14:c.2490+14G>T:","8|0|6.60916691451043e-05","0|0",".",".",".",".",".",".","117232725_G_T",".","VCV000439067","not specified|Cystic fibrosis|not provided","Conflicting interpretations of pathogenicity(Last reviewed: Jul 22, 2021)","criteria provided, conflicting interpretations","c.2490+14G>T","N"]
["VUS",1,"VUS","VUS?-rare",7,117232725,"G","C",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon14:c.2490+14G>C:","0|0|0","0|0",".",".",".",".",".",".","117232725_G_C",".",{"$nulls":4},"c.2490+14G>C","N"]
["VUS",1,"VUS","VUS",7,117234978,"A","AT",".","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon15:c.2491-6_2491-5insT:","0|0|0","0|0",".",".",".",".",".",".","117234978_A_AT",".",{"$nulls":4},"c.2491-6_2491-5insT","N"]
["P/LP",1,"P/LP","P/LP",7,117234984,"G","T",".","CFTR","stopgain SNV","CFTR","CFTR:NM_000492:exon15:c.G2491T:p.E831X","stop_gained","CFTR","CFTR:NM_000492:exon15:c.2491G>T:p.Glu831Ter","4|0|3.29456725859058e-05","0|0",".",".",".",".","1","A","117234984_G_T","DM","VCV000053501","Cystic fibrosis|Hereditary pancreatitis","Pathogenic(Last reviewed: Mar 17, 2017)","reviewed by expert panel","p.E831X","N"]
["VUS",1,"VUS","VUS",7,117235003,"T","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon15:c.T2510C:p.M837T","missense_variant","CFTR","CFTR:NM_000492:exon15:c.2510T>C:p.Met837Thr","1|0|8.23641814647646e-06","0|0","0.26","T","0.002","B","0.000","N","117235003_T_C",".",{"$nulls":4},"p.M837T","N"]
["VUS",1,"VUS","VUS",7,117235018,"C","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon15:c.C2525A:p.A842E","missense_variant","CFTR","CFTR:NM_000492:exon15:c.2525C>A:p.Ala842Glu","0|0|0","0|0","0.15","T","0.005","B","0.0","N","117235018_C_A",".",{"$nulls":4},"p.A842E","N"]
["VUS",1,"VUS","VUS",7,117235020,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon15:c.G2527A:p.V843M","missense_variant","CFTR","CFTR:NM_000492:exon15:c.2527G>A:p.Val843Met","0|0|0","0|0","0.04","D","0.968","D","0.934","D","117235020_G_A",".",{"$nulls":4},"p.V843M","N"]
["VUS",1,"VUS","VUS",7,117235033,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon15:c.A2540G:p.N847S","missense_variant","CFTR","CFTR:NM_000492:exon15:c.2540A>G:p.Asn847Ser","1|0|8.23641814647646e-06","0.000399361|0","0.82","T","0.252","B","1.000","D","117235033_A_G",".","VCV000655447","Cystic fibrosis","Uncertain significance(Last reviewed: Dec 24, 2019)","criteria provided, single submitter","p.N847S","N"]
["VUS",1,"VUS","VUS",7,117235037,"A","G",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon15:c.A2544G:p.T848T","synonymous_variant","CFTR","CFTR:NM_000492:exon15:c.2544A>G:p.Thr848=","0|0|0","0|0",".",".",".",".",".",".","117235037_A_G",".",{"$nulls":4},"p.T848T","N"]
["VUS",1,"VUS","VUS",7,117235040,"C","T",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon15:c.C2547T:p.Y849Y","synonymous_variant","CFTR","CFTR:NM_000492:exon15:c.2547C>T:p.Tyr849=","0|0|0","0|0",".",".",".",".",".",".","117235040_C_T",".",{"$nulls":4},"p.Y849Y","N"]
["VUS",1,"VUS","VUS",7,117235044,"C","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon15:c.C2551G:p.R851G","missense_variant","CFTR","CFTR:NM_000492:exon15:c.2551C>G:p.Arg851Gly","0|0|0","0|0","0.09","T","0.999","D","1.000","D","117235044_C_G",".",{"$nulls":4},"p.R851G","N"]
["P/LP",1,"P/LP","P/LP",7,117235044,"C","T","rs121909012","CFTR","stopgain SNV","CFTR","CFTR:NM_000492:exon15:c.C2551T:p.R851X","stop_gained","CFTR","CFTR:NM_000492:exon15:c.2551C>T:p.Arg851Ter","1|0|8.23641814647646e-06","0|0","1","T",".",".","1","A","117235044_C_T","DM","VCV000007141","Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Cystic fibrosis","Pathogenic(Last reviewed: Mar 17, 2017)","reviewed by expert panel","p.R851X","N"]
["VUS",1,"VUS","VUS",7,117235045,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon15:c.G2552A:p.R851Q","missense_variant","CFTR","CFTR:NM_000492:exon15:c.2552G>A:p.Arg851Gln","13|0|0.000107073435904194","0.000199681|0","0.1","T","0.998","D","1.0","D","117235045_G_A",".","VCV000411119","not provided|Cystic fibrosis","Uncertain significance(Last reviewed: Jan 15, 2020)","criteria provided, multiple submitters, no conflicts","p.R851Q","N"]
["VUS",1,"VUS","VUS",7,117235050,"A","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon15:c.A2557T:p.I853F","missense_variant","CFTR","CFTR:NM_000492:exon15:c.2557A>T:p.Ile853Phe","1|0|8.23641814647646e-06","0|0","0.73","T","0.003","B","0.000","N","117235050_A_T","DM","VCV000556101","Cystic fibrosis|not specified","Uncertain significance(Last reviewed: Jul 20, 2021)","criteria provided, multiple submitters, no conflicts","p.I853F","N"]
["LB",0,"VUS","LB",7,117235052,"T","C","rs1800104","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon15:c.T2559C:p.I853I","synonymous_variant","CFTR","CFTR:NM_000492:exon15:c.2559T>C:p.Ile853=","31|0|0.00025532896254077","0.000599042|0",".",".",".",".",".",".","117235052_T_C",".","VCV000358732","not specified|none provided|Inborn genetic diseases|not provided|Cystic fibrosis","Conflicting interpretations of pathogenicity(Last reviewed: May 18, 2021)","criteria provided, conflicting interpretations","p.I853I","N"]
["VUS",1,"VUS","VUS",7,117235054,"C","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon15:c.C2561A:p.T854N","missense_variant","CFTR","CFTR:NM_000492:exon15:c.2561C>A:p.Thr854Asn","0|0|0","0|0","0.08","T","0.008","B","1.000","D","117235054_C_A",".",{"$nulls":4},"p.T854N","N"]
["VUS",1,"VUS","VUS",7,117235056,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon15:c.G2563A:p.V855I","missense_variant","CFTR","CFTR:NM_000492:exon15:c.2563G>A:p.Val855Ile","24|0|0.000197674035515435","0|0","0.2","T","0.001","B","0.0","N","117235056_G_A","DM","VCV000053513","not provided|Obstructive azoospermia|Cystic fibrosis","Conflicting interpretations of pathogenicity(Last reviewed: Aug 23, 2021)","criteria provided, conflicting interpretations","p.V855I","N"]
["VUS",1,"VUS","VUS",7,117235057,"T","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon15:c.T2564C:p.V855A","missense_variant","CFTR","CFTR:NM_000492:exon15:c.2564T>C:p.Val855Ala","0|0|0","0|0","1","T","0.001","B","0.001","N","117235057_T_C",".",{"$nulls":4},"p.V855A","N"]
["VUS",1,"VUS","VUS",7,117235081,"T","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon15:c.T2588C:p.L863P","missense_variant","CFTR","CFTR:NM_000492:exon15:c.2588T>C:p.Leu863Pro","0|0|0","0|0","0.01","D","1.0","D","1.0","D","117235081_T_C",".",{"$nulls":4},"p.L863P","N"]
["VUS",1,"VUS","VUS",7,117235090,"G","A","rs193922506","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon15:c.G2597A:p.C866Y","missense_variant","CFTR","CFTR:NM_000492:exon15:c.2597G>A:p.Cys866Tyr","7|0|5.76568265682657e-05","0|0","0.13","T","0.981","D","1.000","D","117235090_G_A","DM","VCV000035843","Cystic fibrosis|not provided","Uncertain significance(Last reviewed: Feb 17, 2020)","criteria provided, multiple submitters, no conflicts","p.C866Y","N"]
["VUS",1,"VUS","VUS",7,117235099,"T","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon15:c.T2606C:p.I869T","missense_variant","CFTR","CFTR:NM_000492:exon15:c.2606T>C:p.Ile869Thr","0|0|0","0|0","0.05","D","0.347","B","0.998","D","117235099_T_C",".",{"$nulls":4},"p.I869T","N"]
["VUS",1,"VUS","VUS",7,117235120,"T","C",".","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon15:c.2619+8T>C:","0|0|0","0|0",".",".",".",".",".",".","117235120_T_C",".",{"$nulls":4},"c.2619+8T>C","N"]
["LB",0,"VUS","B-phenotype:oligospermia？",7,117242783,"C","T","rs146376436","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon16:c.2620-97C>T:","0|0|0","0.000399361|0",".",".",".",".",".",".","117242783_C_T","DM?","VCV000550815","Cystic fibrosis","Conflicting interpretations of pathogenicity(Last reviewed: Nov 23, 2020)","criteria provided, conflicting interpretations","c.2620-97C>T","N"]
["LB",1,"LB","LB",7,117242865,"C","G","rs139379077","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon16:c.2620-15C>G:","312|3|0.00256976246170066","0.00139776|0",".",".",".",".",".",".","117242865_C_G","DM?","VCV000035844","CFTR-related disorders|Cystic fibrosis|not specified|not provided|none provided","Conflicting interpretations of pathogenicity(Last reviewed: Jul 22, 2021)","criteria provided, conflicting interpretations","c.2620-15C>G","N"]
["LB",1,"LB","LB",7,117242874,"T","C","rs371315682","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon16:c.2620-6T>C:","69|1|0.000568312852106876","0|0",".",".",".",".",".",".","117242874_T_C","DM?","VCV000053530","not specified|not provided|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis","Conflicting interpretations of pathogenicity(Last reviewed: Jul 22, 2021)","criteria provided, conflicting interpretations","c.2620-6T>C","N"]
["VUS",1,"VUS","VUS",7,117242920,"G","T",".","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon16:c.2657+3G>T:","0|0|0","0|0",".",".",".",".",".",".","117242920_G_T",".",{"$nulls":4},"c.2657+3G>T","N"]
["VUS",1,"VUS","VUS",7,117243600,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon17:c.A2672G:p.D891G","missense_variant","CFTR","CFTR:NM_000492:exon17:c.2672A>G:p.Asp891Gly","6|0|4.94201370585134e-05","0|0","0.65","T","0.001","B","0.0","N","117243600_A_G","DM","VCV000623336","Hereditary pancreatitis|Cystic fibrosis","Uncertain significance(Last reviewed: Jul 15, 2019)","criteria provided, multiple submitters, no conflicts","p.D891G","N"]
["VUS",1,"VUS","VUS",7,117243612,"G","A","rs201864483","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon17:c.G2684A:p.S895N","missense_variant","CFTR","CFTR:NM_000492:exon17:c.2684G>A:p.Ser895Asn","39|0|0.00032123618272573","0.000599042|0","0.71","T","0.002","B","0.0","N","117243612_G_A","DM?","VCV000053543","Breast neoplasm|not specified|not provided|CFTR-related disorders|Cystic fibrosis","Conflicting interpretations of pathogenicity(Last reviewed: Jul 22, 2021)","criteria provided, conflicting interpretations","p.S895N","N"]
["VUS",0,"VUS","LB-no effect on functional experiments",7,117243663,"C","T","rs121909034","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon17:c.C2735T:p.S912L","missense_variant","CFTR","CFTR:NM_000492:exon17:c.2735C>T:p.Ser912Leu","108|0|0.000889533159819458","0.000599042|0","0.35","T","0.041","B","0.0","N","117243663_C_T","DM","VCV000007205","Cystic fibrosis|Inborn genetic diseases|CFTR-related disorders|not specified|not provided","Uncertain significance(Last reviewed: Oct 3, 2017)","reviewed by expert panel","p.S912L","N"]
["VUS",1,"VUS","VUS",7,117243664,"G","A","rs200901072","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon17:c.G2736A:p.S912S","synonymous_variant","CFTR","CFTR:NM_000492:exon17:c.2736G>A:p.Ser912=","4|0|3.29456725859058e-05","0|0",".",".",".",".",".",".","117243664_G_A",".","VCV000194712","not specified|Cystic fibrosis|not provided","Conflicting interpretations of pathogenicity(Last reviewed: Jul 22, 2021)","criteria provided, conflicting interpretations","p.S912S","N"]
["LB",0,"LB","VUS",7,117243686,"G","A","rs373885282","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon17:c.G2758A:p.V920M","missense_variant","CFTR","CFTR:NM_000492:exon17:c.2758G>A:p.Val920Met","22|1|0.000181204184169344","0|0","0.03","D","0.993","D","1.0","D","117243686_G_A","DM","VCV000053561","none provided|not specified|not provided|Bronchiectasis with or without elevated sweat chloride 1|Hereditary pancreatitis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis","Conflicting interpretations of pathogenicity(Last reviewed: Jul 22, 2021)","criteria provided, conflicting interpretations","p.V920M","N"]
["VUS",1,"VUS","VUS",7,117243689,"G","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon17:c.G2761C:p.G921R","missense_variant","CFTR","CFTR:NM_000492:exon17:c.2761G>C:p.Gly921Arg","0|0|0","0|0","0","D","0.985","D","1.000","D","117243689_G_C",".",{"$nulls":4},"p.G921R","N"]
["VUS",1,"VUS","VUS",7,117243697,"C","T","rs1800108","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon17:c.C2769T:p.A923A","synonymous_variant","CFTR","CFTR:NM_000492:exon17:c.2769C>T:p.Ala923=","5|0|4.11827691293963e-05","0|0",".",".",".",".",".",".","117243697_C_T",".","VCV000093150","not specified|not provided|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation","Conflicting interpretations of pathogenicity(Last reviewed: Jul 22, 2021)","criteria provided, conflicting interpretations","p.A923A","N"]
["VUS",1,"VUS","VUS",7,117243698,"G","A","rs201759207","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon17:c.G2770A:p.D924N","missense_variant","CFTR","CFTR:NM_000492:exon17:c.2770G>A:p.Asp924Asn","9|0|7.41289844329133e-05","0|0","0.6","T","0.916","D","1.0","D","117243698_G_A","DM","VCV000053565","not specified|not provided|Inborn genetic diseases|Cystic fibrosis","Uncertain significance(Last reviewed: Dec 20, 2019)","reviewed by expert panel","p.D924N","N"]
["VUS",1,"VUS","VUS",7,117243728,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon17:c.G2800A:p.G934S","missense_variant","CFTR","CFTR:NM_000492:exon17:c.2800G>A:p.Gly934Ser","7|0|5.76549270253352e-05","0|0","0.97","T","1.0","D","1.0","D","117243728_G_A",".","VCV001039311","Cystic fibrosis","Uncertain significance(Last reviewed: Mar 26, 2020)","criteria provided, single submitter","p.G934S","N"]
["VUS",1,"VUS","VUS",7,117243740,"G","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon17:c.G2812T:p.V938L","missense_variant","CFTR","CFTR:NM_000492:exon17:c.2812G>T:p.Val938Leu","3|0|2.47092544394294e-05","0|0","0.09","T","0.944","D","1.0","D","117243740_G_T",".","VCV000928496","not specified|Cystic fibrosis","Uncertain significance(Last reviewed: Oct 1, 2019)","criteria provided, multiple submitters, no conflicts","p.V938L","N"]
["VUS",1,"VUS","VUS",7,117243740,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon17:c.G2812A:p.V938M","missense_variant","CFTR","CFTR:NM_000492:exon17:c.2812G>A:p.Val938Met","0|0|0","0|0","0.02","D","0.959","D","1.0","D","117243740_G_A",".",{"$nulls":4},"p.V938M","N"]
["VUS",0,"VUS","VUS",7,117243756,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon17:c.C2828T:p.T943I","missense_variant","CFTR","CFTR:NM_000492:exon17:c.2828C>T:p.Thr943Ile","0|0|0","0|0","0.12","T","0.918","D","1.000","D","117243756_C_T",".",{"$nulls":4},"p.T943I","N"]
["VUS",1,"VUS","VUS",7,117243759,"T","C","rs141747560","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon17:c.T2831C:p.V944A","missense_variant","CFTR","CFTR:NM_000492:exon17:c.2831T>C:p.Val944Ala","0|0|0","0|0","1","T","0.015","B","0.999","D","117243759_T_C",".",{"$nulls":4},"p.V944A","N"]
["LB",1,"LB","LB",7,117243760,"G","A","rs193922512","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon17:c.G2832A:p.V944V","synonymous_variant","CFTR","CFTR:NM_000492:exon17:c.2832G>A:p.Val944=","3|0|2.47096614776378e-05","0|0",".",".",".",".",".",".","117243760_G_A",".","VCV000035851","Cystic fibrosis","Likely benign(Last reviewed: May 3, 2020)","criteria provided, multiple submitters, no conflicts","p.V944V","N"]
["P/LP",1,"P/LP","P/LP",7,117243762,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon17:c.C2834T:p.S945L","missense_variant","CFTR","CFTR:NM_000492:exon17:c.2834C>T:p.Ser945Leu","12|0|9.8838645910551e-05","0|0","0","D","0.981","D","1.0","D","117243762_C_T","DM","VCV000053575","Cystic fibrosis|not provided|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|none provided|ivacaftor response - Efficacy|Cystic fibrosis|CFTR-related disorders|CFTR-related disorders","Pathogenic, drug response(Last reviewed: Jun 3, 2021)","reviewed by expert panel","p.S945L","Y"]
["LB",1,"LB","LB",7,117243763,"G","A","rs193922513","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon17:c.G2835A:p.S945S","synonymous_variant","CFTR","CFTR:NM_000492:exon17:c.2835G>A:p.Ser945=","15|1|0.000123548307388189","0.000199681|0",".",".",".",".",".",".","117243763_G_A",".","VCV000035852","not specified|CFTR-related disorders|Cystic fibrosis|Inborn genetic diseases","Conflicting interpretations of pathogenicity(Last reviewed: Jul 22, 2021)","criteria provided, conflicting interpretations","p.S945S","N"]
["VUS",1,"VUS","VUS",7,117243774,"A","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon17:c.A2846C:p.H949P","missense_variant","CFTR","CFTR:NM_000492:exon17:c.2846A>C:p.His949Pro","0|0|0","0|0","0","D","1.0","D","1.0","D","117243774_A_C",".",{"$nulls":4},"p.H949P","N"]
["VUS",1,"VUS","VUS",7,117243784,"G","C","rs151048781","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon17:c.G2856C:p.M952I","missense_variant","CFTR","CFTR:NM_000492:exon17:c.2856G>C:p.Met952Ile","11|0|9.06005996112411e-05","0|0","0.03","D","0.953","D","1.0","D","117243784_G_C","DM","VCV000053580","not specified|not provided|CFTR-related disorders|Inborn genetic diseases|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis","Conflicting interpretations of pathogenicity(Last reviewed: May 18, 2021)","criteria provided, conflicting interpretations","p.M952I","N"]
["VUS",1,"VUS","VUS",7,117243804,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon17:c.C2876T:p.A959V","missense_variant","CFTR","CFTR:NM_000492:exon17:c.2876C>T:p.Ala959Val","1|0|8.23641814647646e-06","0|0","0.04","D","0.962","D","1.0","D","117243804_C_T","DM","VCV000053584","Cystic fibrosis","Uncertain significance(Last reviewed: Nov 8, 2017)","criteria provided, single submitter","p.A959V","N"]
["VUS",1,"VUS","VUS",7,117243825,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon17:c.C2897T:p.T966M","missense_variant","CFTR","CFTR:NM_000492:exon17:c.2897C>T:p.Thr966Met","0|0|0","0|0","0.02","D","0.079","B","0.039","N","117243825_C_T",".",{"$nulls":4},"p.T966M","N"]
["VUS",0,"VUS","VUS",7,117243833,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon17:c.G2905A:p.A969T","missense_variant","CFTR","CFTR:NM_000492:exon17:c.2905G>A:p.Ala969Thr","0|0|0","0|0","0.56","T","0.019","B","0.998","D","117243833_G_A",".",{"$nulls":4},"p.A969T","N"]
["VUS",1,"VUS","VUS",7,117243835,"A","C",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon17:c.A2907C:p.A969A","splice_region_variant","CFTR","CFTR:NM_000492:exon17:c.2907A>C:p.Ala969=","3|0|2.47092544394294e-05","0|0",".",".",".",".",".",".","117243835_A_C","DM","VCV000549917","Cystic fibrosis","Conflicting interpretations of pathogenicity(Last reviewed: Oct 1, 2019)","criteria provided, conflicting interpretations","p.A969A","N"]
["VUS",1,"VUS","VUS",7,117243840,"C","A","rs372266030","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon17:c.2908+4C>A:","4|0|3.29456725859058e-05","0|0",".",".",".",".",".",".","117243840_C_A",".","VCV000596852","not provided","Uncertain significance(Last reviewed: Apr 12, 2018)","criteria provided, single submitter","c.2908+4C>A","N"]
["VUS",1,"VUS","VUS",7,117243843,"T","C",".","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon17:c.2908+7T>C:","0|0|0","0|0",".",".",".",".",".",".","117243843_T_C",".",{"$nulls":4},"c.2908+7T>C","N"]
["P/LP",1,"P/LP","P/LP",7,117246728,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon18:c.G2909A:p.G970D","missense_variant","CFTR","CFTR:NM_000492:exon18:c.2909G>A:p.Gly970Asp","1|0|8.23791086580443e-06","0|0",".",".","0.996","D","1.0","D","117246728_G_A","DM","VCV000035854","not specified|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Cystic fibrosis","Pathogenic(Last reviewed: Aug 31, 2018)","reviewed by expert panel","p.G970D","N"]
["VUS",1,"VUS","VUS",7,117246740,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon18:c.A2921G:p.N974S","missense_variant","CFTR","CFTR:NM_000492:exon18:c.2921A>G:p.Asn974Ser","0|0|0","0|0","0","D","0.983","D","1.0","D","117246740_A_G",".",{"$nulls":4},"p.N974S","N"]
["LP",0,"VUS","LP-PS4+PM2_S+PP3",7,117246755,"A","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon18:c.A2936C:p.D979A","missense_variant","CFTR","CFTR:NM_000492:exon18:c.2936A>C:p.Asp979Ala","3|0|2.47145469823538e-05","0.000399361|0","0","D","0.996","D","1.0","D","117246755_A_C","DM","VCV000053602","none provided|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis","Conflicting interpretations of pathogenicity(Last reviewed: Apr 9, 2021)","criteria provided, conflicting interpretations","p.D979A","N"]
["VUS",1,"VUS","VUS",7,117246769,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon18:c.G2950A:p.D984N","missense_variant","CFTR","CFTR:NM_000492:exon18:c.2950G>A:p.Asp984Asn","1|0|8.23858955346845e-06","0|0","0","D","0.874","P","1.0","D","117246769_G_A",".","VCV001009391","Cystic fibrosis","Uncertain significance(Last reviewed: Sep 9, 2020)","criteria provided, single submitter","p.D984N","N"]
["VUS",1,"VUS","VUS",7,117246788,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon18:c.C2969T:p.T990I","missense_variant","CFTR","CFTR:NM_000492:exon18:c.2969C>T:p.Thr990Ile","0|0|0","0|0","0.01","D","0.291","B","0.994","D","117246788_C_T",".",{"$nulls":4},"p.T990I","N"]
["VUS",0,"P/LP","VUS",7,117246796,"G","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon18:c.G2977T:p.D993Y","missense_variant","CFTR","CFTR:NM_000492:exon18:c.2977G>T:p.Asp993Tyr","0|0|0","0|0","0.01","D","0.997","D","1.0","D","117246796_G_T","DM","VCV000053611","Cystic fibrosis","Pathogenic(Last reviewed: Jan 29, 2018)","criteria provided, single submitter","p.D993Y","N"]
["VUS",1,"VUS","VUS",7,117246803,"T","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon18:c.T2984A:p.I995N","missense_variant","CFTR","CFTR:NM_000492:exon18:c.2984T>A:p.Ile995Asn","0|0|0","0|0","0","D","0.723","P","1.000","D","117246803_T_A",".",{"$nulls":4},"p.I995N","N"]
["VUS",1,"VUS","VUS",7,117246812,"G","A",".","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon18:c.2988+5G>A:","1|0|8.23886105984709e-06","0|0",".",".",".",".",".",".","117246812_G_A",".",{"$nulls":4},"c.2988+5G>A","N"]
["VUS",1,"VUS","VUS?-rare",7,117246827,"G","A","rs183819332","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon18:c.2988+20G>A:","3|0|2.47186197122753e-05","0.000199681|0",".",".",".",".",".",".","117246827_G_A",".","VCV000495922","not provided","Uncertain significance(Last reviewed: May 9, 2017)","criteria provided, single submitter","c.2988+20G>A","N"]
["VUS",0,"LB","VUS",7,117250575,"G","C","rs1800111","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon19:c.G2991C:p.L997F","missense_variant","CFTR","CFTR:NM_000492:exon19:c.2991G>C:p.Leu997Phe","254|0|0.0020925327885059","0.00179712|1","0.02","D","0.991","D","1.000","D","117250575_G_C","DM","VCV000007229","Infertility|Pancreatitis, idiopathic, susceptibility to|Hypertrypsinemia, neonatal, susceptibility to|Cystic fibrosis|not specified|not provided|CFTR-related disorders|Pancreatitis|Inborn genetic diseases|Obstructive azoospermia|none provided","Conflicting interpretations of pathogenicity(Last reviewed: Aug 23, 2021)","criteria provided, conflicting interpretations","p.L997F","N"]
["LB",1,"LB","LB",7,117250608,"C","T",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon19:c.C3024T:p.V1008V","synonymous_variant","CFTR","CFTR:NM_000492:exon19:c.3024C>T:p.Val1008=","5|1|4.11895543290222e-05","0|0",".",".",".",".",".",".","117250608_C_T",".","VCV000194922","Inborn genetic diseases|CFTR-related disorders|not provided|Cystic fibrosis","Conflicting interpretations of pathogenicity(Last reviewed: Oct 4, 2020)","criteria provided, conflicting interpretations","p.V1008V","N"]
["VUS",1,"VUS","VUS",7,117250609,"G","A","rs184724618","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon19:c.G3025A:p.A1009T","missense_variant","CFTR","CFTR:NM_000492:exon19:c.3025G>A:p.Ala1009Thr","6|0|4.94274651948266e-05","0.000399361|0","0.09","T","0.105","B","0.629","D","117250609_G_A","DM","VCV000053631","not provided|none provided|not specified|CFTR-related disorders|Cystic fibrosis","Uncertain significance(Last reviewed: Jul 14, 2021)","criteria provided, multiple submitters, no conflicts","p.A1009T","N"]
["VUS",1,"VUS","VUS",7,117250625,"A","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon19:c.A3041C:p.Y1014S","missense_variant","CFTR","CFTR:NM_000492:exon19:c.3041A>C:p.Tyr1014Ser","0|0|0","0|0","0.01","D","0.999","D","1.0","D","117250625_A_C",".",{"$nulls":4},"p.Y1014S","N"]
["VUS",1,"VUS","VUS",7,117250644,"G","A",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon19:c.G3060A:p.V1020V","synonymous_variant","CFTR","CFTR:NM_000492:exon19:c.3060G>A:p.Val1020=","0|0|0","0|0",".",".",".",".",".",".","117250644_G_A",".",{"$nulls":4},"p.V1020V","N"]
["VUS",1,"VUS","VUS",7,117250646,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon19:c.C3062T:p.P1021L","missense_variant","CFTR","CFTR:NM_000492:exon19:c.3062C>T:p.Pro1021Leu","0|0|0","0|0","0.07","T","0.998","D","1.0","D","117250646_C_T","DM","VCV000455774","Cystic fibrosis","Uncertain significance(Last reviewed: Feb 6, 2017)","criteria provided, single submitter","p.P1021L","N"]
["VUS",1,"VUS","VUS",7,117250652,"T","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon19:c.T3068G:p.I1023R","missense_variant","CFTR","CFTR:NM_000492:exon19:c.3068T>G:p.Ile1023Arg","1|0|8.23831806498385e-06","0|0","0.09","T","0.74","P","1.000","D","117250652_T_G","DM","VCV000495923","Cystic fibrosis|not provided","Conflicting interpretations of pathogenicity(Last reviewed: May 19, 2020)","criteria provided, conflicting interpretations","p.I1023R","N"]
["LB",1,"LB","LB",7,117250664,"T","C","rs1800112","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon19:c.T3080C:p.I1027T","missense_variant","CFTR","CFTR:NM_000492:exon19:c.3080T>C:p.Ile1027Thr","23|0|0.000189475071671005","0|0","0.02","D","0.201","B","0.012","N","117250664_T_C","DM?","VCV000035860","Inborn genetic diseases|not specified|CFTR-related disorders|none provided|Cystic fibrosis|not provided","Conflicting interpretations of pathogenicity(Last reviewed: Aug 1, 2021)","criteria provided, conflicting interpretations","p.I1027T","N"]
["VUS",1,"VUS","VUS",7,117250669,"T","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon19:c.T3085A:p.L1029M","missense_variant","CFTR","CFTR:NM_000492:exon19:c.3085T>A:p.Leu1029Met","0|0|0","0|0","0.06","T","0.732","P","0.425","N","117250669_T_A",".",{"$nulls":4},"p.L1029M","N"]
["VUS",1,"VUS","VUS",7,117250695,"A","G",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon19:c.A3111G:p.S1037S","synonymous_variant","CFTR","CFTR:NM_000492:exon19:c.3111A>G:p.Ser1037=","0|0|0","0|0",".",".",".",".",".",".","117250695_A_G",".",{"$nulls":4},"p.S1037S","N"]
["VUS",1,"VUS","VUS",7,117250707,"A","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon19:c.A3123T:p.K1041N","missense_variant","CFTR","CFTR:NM_000492:exon19:c.3123A>T:p.Lys1041Asn","0|0|0","0|0","0","D","1.0","D","1.000","D","117250707_A_T",".",{"$nulls":4},"p.K1041N","N"]
["LB",1,"LB","LB",7,117250741,"C","T","rs147945812","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon19:c.3139+18C>T:","166|1|0.00136783124588003","0.00119808|0",".",".",".",".",".",".","117250741_C_T",".","VCV000035862","not specified|not provided|none provided|Cystic fibrosis","Benign(Last reviewed: Dec 1, 2020)","criteria provided, multiple submitters, no conflicts","c.3139+18C>T","N"]
["VUS",1,"VUS","VUS?-rare",7,117250742,"G","T",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon19:c.3139+19G>T:","0|0|0","0|0",".",".",".",".",".",".","117250742_G_T",".",{"$nulls":4},"c.3139+19G>T","N"]
["VUS",1,"VUS","VUS?-rare",7,117250742,"G","A",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon19:c.3139+19G>A:","2|0|1.6479894528675e-05","0|0",".",".",".",".",".",".","117250742_G_A",".","VCV001098820","not specified","Uncertain significance(Last reviewed: Apr 21, 2021)","criteria provided, single submitter","c.3139+19G>A","N"]
["P/LP",1,"P/LP","P/LP",7,117251609,"A","G","rs76151804","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon20:c.3140-26A>G:","1|0|8.24647051062145e-06","0|0",".",".",".",".",".",".","117251609_A_G","DM","VCV000035864","Cystic fibrosis|CFTR-related disorders|Cystic fibrosis|not specified|not provided|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis","Pathogenic(Last reviewed: Mar 17, 2017)","reviewed by expert panel","c.3140-26A>G","Y"]
["VUS",1,"VUS","VUS",7,117251646,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon20:c.A3151G:p.I1051V","missense_variant","CFTR","CFTR:NM_000492:exon20:c.3151A>G:p.Ile1051Val","3|0|2.47210639945943e-05","0|0","0.43","T","0.935","D","1.0","D","117251646_A_G","DM","VCV000495927","Cystic fibrosis|CFTR-related disorders|Inborn genetic diseases|not provided","Uncertain significance(Last reviewed: May 18, 2021)","criteria provided, multiple submitters, no conflicts","p.I1051V","N"]
["VUS",1,"VUS","VUS",7,117251651,"C","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon20:c.C3156G:p.F1052L","missense_variant","CFTR","CFTR:NM_000492:exon20:c.3156C>G:p.Phe1052Leu","0|0|0","0|0","0","D","0.945","D","1.000","D","117251651_C_G",".",{"$nulls":4},"p.F1052L","N"]
["VUS",1,"VUS","VUS",7,117251678,"A","G",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon20:c.A3183G:p.G1061G","synonymous_variant","CFTR","CFTR:NM_000492:exon20:c.3183A>G:p.Gly1061=","0|0|0","0|0",".",".",".",".","1.0","D","117251678_A_G",".","VCV001119316","Cystic fibrosis","Likely benign(Last reviewed: Sep 25, 2020)","criteria provided, single submitter","p.G1061G","N"]
["P/LP",1,"P/LP","P/LP",7,117251691,"C","T","rs78194216","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon20:c.C3196T:p.R1066C","missense_variant","CFTR","CFTR:NM_000492:exon20:c.3196C>T:p.Arg1066Cys","1|0|8.23886105984709e-06","0|0","0","D","1.0","D","1","A","117251691_C_T","DM","VCV000007162","not provided|not specified|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis","Pathogenic(Last reviewed: Mar 17, 2017)","reviewed by expert panel","p.R1066C","Y"]
["VUS",1,"VUS","VUS-PM2_S+PP3",7,117251695,"C","T","rs1800114","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon20:c.C3200T:p.A1067V","missense_variant","CFTR","CFTR:NM_000492:exon20:c.3200C>T:p.Ala1067Val","2|0|1.64777221196942e-05","0|0","0","D","1.0","D","1.0","D","117251695_C_T","DM","VCV000053683","not provided|not specified|Cystic fibrosis","Conflicting interpretations of pathogenicity(Last reviewed: Feb 27, 2021)","criteria provided, conflicting interpretations","p.A1067V","N"]
["VUS",1,"VUS","VUS",7,117251699,"C","T","rs1800116","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon20:c.C3204T:p.F1068F","synonymous_variant","CFTR","CFTR:NM_000492:exon20:c.3204C>T:p.Phe1068=","3|0|2.47165831795413e-05","0|0",".",".",".",".","1.0","D","117251699_C_T",".","VCV000439072","not specified|Cystic fibrosis|CFTR-related disorders","Conflicting interpretations of pathogenicity(Last reviewed: Jul 17, 2020)","criteria provided, conflicting interpretations","p.F1068F","N"]
["VUS",1,"VUS","VUS",7,117251700,"G","A","rs200321110","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon20:c.G3205A:p.G1069R","missense_variant","CFTR","CFTR:NM_000492:exon20:c.3205G>A:p.Gly1069Arg","28|0|0.000230684308523785","0.000399361|0","0.4","T","0.262","B","1.000","D","117251700_G_A","DM","VCV000053684","not provided|none provided|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|not specified|CFTR-related disorders|Inborn genetic diseases|Cystic fibrosis","Conflicting interpretations of pathogenicity(Last reviewed: Apr 2, 2021)","criteria provided, conflicting interpretations","p.G1069R","N"]
["VUS",0,"LB","VUS-PS4+PS3(PMID: 23891399)_Supp",7,117251704,"G","A","rs78769542","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon20:c.G3209A:p.R1070Q","missense_variant","CFTR","CFTR:NM_000492:exon20:c.3209G>A:p.Arg1070Gln","97|2|0.000799182691515481","0.00119808|0",".",".",".",".","1","A","117251704_G_A","DM","VCV000035866","ivacaftor response - Efficacy|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Obstructive azoospermia|Cystic fibrosis|CFTR-related disorders|not provided|Inborn genetic diseases|not specified","drug response(Last reviewed: Mar 23, 2018)","reviewed by expert panel","p.R1070Q","N"]
["VUS",1,"VUS","VUS",7,117251708,"G","A",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon20:c.G3213A:p.Q1071Q","synonymous_variant","CFTR","CFTR:NM_000492:exon20:c.3213G>A:p.Gln1071=","0|0|0","0|0",".",".",".",".","1.0","D","117251708_G_A",".",{"$nulls":4},"p.Q1071Q","N"]
["VUS",0,"P/LP","VUS-PM2-Supp+PM4+",7,117251718,"GAAA","G",".","CFTR","nonframeshift substitution","CFTR","CFTR:NM_000492:exon20:c.3223_3226G","inframe_deletion","CFTR","CFTR:NM_000492:exon20:c.3224_3226del:p.Glu1075_Thr1076delinsAla","0|0|0","0|0",".",".",".",".",".",".","117251718_GAAA_G",".",{"$nulls":4},"c.3223_3226G","N"]
["VUS",1,"VUS","VUS",7,117251718,"G","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon20:c.G3223C:p.E1075Q","missense_variant","CFTR","CFTR:NM_000492:exon20:c.3223G>C:p.Glu1075Gln","0|0|0","0|0","0.33","T","0.999","D","1.0","D","117251718_G_C",".",{"$nulls":4},"p.E1075Q","N"]
["P/LP",1,"P/LP","LP-PVS1+PM2_Supp",7,117251722,"CTCTGT","C",".","CFTR","frameshift substitution","CFTR","CFTR:NM_000492:exon20:c.3227_3232C","frameshift_variant","CFTR","CFTR:NM_000492:exon20:c.3228_3232del:p.Leu1077ProfsTer77","0|0|0","0|0",".",".",".",".",".",".","117251722_CTCTGT_C",".",{"$nulls":4},"p.Leu1077ProfsTer77","N"]
["VUS",1,"VUS","VUS",7,117251726,"G","C",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon20:c.G3231C:p.L1077L","synonymous_variant","CFTR","CFTR:NM_000492:exon20:c.3231G>C:p.Leu1077=","0|0|0","0|0",".",".",".",".","1.0","D","117251726_G_C",".",{"$nulls":4},"p.L1077L","N"]
["VUS",1,"VUS","VUS",7,117251729,"C","T",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon20:c.C3234T:p.F1078F","synonymous_variant","CFTR","CFTR:NM_000492:exon20:c.3234C>T:p.Phe1078=","0|0|0","0|0",".",".",".",".","1.0","D","117251729_C_T",".",{"$nulls":4},"p.F1078F","N"]
["VUS",1,"VUS","VUS",7,117251732,"C","T",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon20:c.C3237T:p.H1079H","synonymous_variant","CFTR","CFTR:NM_000492:exon20:c.3237C>T:p.His1079=","0|0|0","0|0",".",".",".",".","1.0","D","117251732_C_T",".","VCV001114599","Cystic fibrosis","Likely benign(Last reviewed: Aug 1, 2020)","criteria provided, single submitter","p.H1079H","N"]
["VUS",1,"VUS","VUS",7,117251736,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon20:c.G3241A:p.A1081T","missense_variant","CFTR","CFTR:NM_000492:exon20:c.3241G>A:p.Ala1081Thr","0|0|0","0|0","0.21","T","0.836","P","1.0","D","117251736_G_A",".",{"$nulls":4},"p.A1081T","N"]
["VUS",1,"VUS","VUS",7,117251758,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon20:c.A3263G:p.N1088S","missense_variant","CFTR","CFTR:NM_000492:exon20:c.3263A>G:p.Asn1088Ser","0|0|0","0|0","0.78","T","0.021","B","1.000","D","117251758_A_G",".",{"$nulls":4},"p.N1088S","N"]
["VUS",1,"VUS","VUS",7,117251784,"C","T","rs201591901","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon20:c.C3289T:p.R1097C","missense_variant","CFTR","CFTR:NM_000492:exon20:c.3289C>T:p.Arg1097Cys","22|0|0.000181242997429645","0.000199681|0","0","D","1.0","D","1.0","D","117251784_C_T","DM?","VCV000574132","Cystic fibrosis|not provided","Conflicting interpretations of pathogenicity(Last reviewed: Dec 7, 2020)","criteria provided, conflicting interpretations","p.R1097C","N"]
["VUS",1,"VUS","VUS",7,117251785,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon20:c.G3290A:p.R1097H","missense_variant","CFTR","CFTR:NM_000492:exon20:c.3290G>A:p.Arg1097His","4|0|3.29532722599354e-05","0|0",".",".",".",".","1.0","D","117251785_G_A",".",{"$nulls":4},"p.R1097H","N"]
["VUS",1,"VUS","VUS",7,117251833,"C","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon20:c.C3338A:p.A1113D","missense_variant","CFTR","CFTR:NM_000492:exon20:c.3338C>A:p.Ala1113Asp","0|0|0","0|0","0.01","D","0.781","P","0.985","D","117251833_C_A",".",{"$nulls":4},"p.A1113D","N"]
["VUS",1,"VUS","VUS",7,117251849,"C","A",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon20:c.C3354A:p.S1118S","synonymous_variant","CFTR","CFTR:NM_000492:exon20:c.3354C>A:p.Ser1118=","0|0|0","0|0",".",".",".",".","1.0","D","117251849_C_A",".",{"$nulls":4},"p.S1118S","N"]
["VUS",1,"VUS","VUS",7,117251849,"C","T",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon20:c.C3354T:p.S1118S","synonymous_variant","CFTR","CFTR:NM_000492:exon20:c.3354C>T:p.Ser1118=","0|0|0","0|0",".",".",".",".","1.0","D","117251849_C_T",".",{"$nulls":4},"p.S1118S","N"]
["LP",1,"P/LP","LP",7,117251863,"G","T",".","CFTR","splicing","CFTR",".","splice_donor_variant","CFTR","CFTR:NM_000492:exon20:c.3367+1G>T:","0|0|0","0|0",".",".",".",".","1.0","D","117251863_G_T",".",{"$nulls":4},"c.3367+1G>T","N"]
["VUS",1,"VUS","VUS",7,117251870,"G","C",".","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon20:c.3367+8G>C:","0|0|0","0|0",".",".",".",".",".",".","117251870_G_C",".",{"$nulls":4},"c.3367+8G>C","N"]
["VUS",1,"VUS","VUS",7,117251870,"G","A",".","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon20:c.3367+8G>A:","0|0|0","0|0",".",".",".",".",".",".","117251870_G_A",".",{"$nulls":4},"c.3367+8G>A","N"]
["VUS",1,"VUS","VUS?-rare",7,117251872,"A","G",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon20:c.3367+10A>G:","0|0|0","0|0",".",".",".",".",".",".","117251872_A_G",".",{"$nulls":4},"c.3367+10A>G","N"]
["LB",0,"LB","VUS: phenotype-pancreatitis",7,117254648,"G","A","rs374104839","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon21:c.3368-19G>A:","2|0|1.64736503961913e-05","0|0",".",".",".",".",".",".","117254648_G_A","DM?","VCV000553142","Cystic fibrosis|not provided","Likely benign(Last reviewed: Nov 9, 2018)","criteria provided, multiple submitters, no conflicts","c.3368-19G>A","N"]
["VUS",0,"LB","VUS",7,117254654,"TGTGCA","T",".","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon21:c.3368-12_3368-8del:","0|0|0","0|0",".",".",".",".",".",".","117254654_TGTGCA_T",".",{"$nulls":4},"c.3368-12_3368-8del","N"]
["VUS",1,"VUS","VUS",7,117254664,"T","TAGGAGA",".","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon21:c.3368-3_3368-2insAGGAGA:","0|0|0","0|0",".",".",".",".",".",".","117254664_T_TAGGAGA",".","VCV000439074","not specified","Uncertain significance(Last reviewed: May 18, 2017)","criteria provided, single submitter","c.3368-3_3368-2insAGGAGA","N"]
["VUS",1,"VUS","VUS",7,117254674,"A","G",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon21:c.A3375G:p.G1125G","synonymous_variant","CFTR","CFTR:NM_000492:exon21:c.3375A>G:p.Gly1125=","1|0|8.23655382587925e-06","0|0",".",".",".",".","1.0","D","117254674_A_G",".","VCV001114773","Cystic fibrosis","Likely benign(Last reviewed: Aug 11, 2020)","criteria provided, single submitter","p.G1125G","N"]
["VUS",0,"LB","VUS-PS4+PP3",7,117254705,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon21:c.G3406A:p.A1136T","missense_variant","CFTR","CFTR:NM_000492:exon21:c.3406G>A:p.Ala1136Thr","8|1|6.58935160780179e-05","0|0","0","D","0.999","D","1.0","D","117254705_G_A","DM","VCV000951237","Cystic fibrosis","Uncertain significance(Last reviewed: Oct 17, 2019)","criteria provided, single submitter","p.A1136T","N"]
["VUS",1,"VUS","VUS",7,117254706,"C","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon21:c.C3407A:p.A1136D","missense_variant","CFTR","CFTR:NM_000492:exon21:c.3407C>A:p.Ala1136Asp","0|0|0","0|0","0","D","0.999","D","1.0","D","117254706_C_A",".",{"$nulls":4},"p.A1136D","N"]
["VUS",1,"VUS","VUS",7,117254706,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon21:c.C3407T:p.A1136V","missense_variant","CFTR","CFTR:NM_000492:exon21:c.3407C>T:p.Ala1136Val","0|0|0","0|0","0","D","0.999","D","1.0","D","117254706_C_T","DM","VCV000595966","not specified|not provided","Uncertain significance(Last reviewed: Mar 7, 2019)","criteria provided, multiple submitters, no conflicts","p.A1136V","N"]
["VUS",1,"VUS","VUS",7,117254721,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon21:c.G3422A:p.S1141N","missense_variant","CFTR","CFTR:NM_000492:exon21:c.3422G>A:p.Ser1141Asn","0|0|0","0|0","0.11","T","0.007","B","0.002","N","117254721_G_A",".",{"$nulls":4},"p.S1141N","N"]
["VUS",1,"VUS","VUS",7,117254744,"T","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon21:c.T3445G:p.S1149A","missense_variant","CFTR","CFTR:NM_000492:exon21:c.3445T>G:p.Ser1149Ala","0|0|0","0|0","0.45","T","0.002","B","0.977","D","117254744_T_G",".",{"$nulls":4},"p.S1149A","N"]
["VUS",1,"VUS","VUS",7,117254749,"C","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon21:c.C3450A:p.S1150R","missense_variant","CFTR","CFTR:NM_000492:exon21:c.3450C>A:p.Ser1150Arg","0|0|0","0|0",".",".",".",".","1.0","D","117254749_C_A",".",{"$nulls":4},"p.S1150R","N"]
["VUS",1,"VUS","VUS",7,117254767,"G","T","rs139729994","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon21:c.G3468T:p.L1156F","missense_variant","CFTR","CFTR:NM_000492:exon21:c.3468G>T:p.Leu1156Phe","24|0|0.000197696831908269","0.000998403|0","0.05","D","0.924","D","1.0","D","117254767_G_T","DP","VCV000455775","not provided|CFTR-related disorders|Cystic fibrosis|Inborn genetic diseases","Conflicting interpretations of pathogenicity(Last reviewed: Nov 14, 2020)","criteria provided, conflicting interpretations","p.L1156F","N"]
["VUS",1,"VUS","VUS",7,117267573,"C","A",".","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon22:c.3469-3C>A:","4|0|3.29511005667589e-05","0|0",".",".",".",".",".",".","117267573_C_A","DM",{"$nulls":4},"c.3469-3C>A","N"]
["P/LP",1,"P/LP","P/LP",7,117267591,"C","T","rs74767530","CFTR","stopgain SNV","CFTR","CFTR:NM_000492:exon22:c.C3484T:p.R1162X","stop_gained","CFTR","CFTR:NM_000492:exon22:c.3484C>T:p.Arg1162Ter","6|0|4.94225795291676e-05","0|0","1","T",".",".","1","A","117267591_C_T","DM","VCV000007137","not specified|Cystic fibrosis|not provided|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|none provided","Pathogenic(Last reviewed: Mar 3, 2004)","practice guideline","p.R1162X","Y"]
["VUS",1,"VUS","VUS",7,117267615,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon22:c.C3508T:p.P1170S","missense_variant","CFTR","CFTR:NM_000492:exon22:c.3508C>T:p.Pro1170Ser","0|0|0","0|0","0.01","D","0.283","B","1.0","D","117267615_C_T",".","VCV001003660","Cystic fibrosis","Uncertain significance(Last reviewed: Oct 22, 2020)","criteria provided, single submitter","p.P1170S","N"]
["VUS",1,"VUS","VUS",7,117267630,"C","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon22:c.C3523A:p.P1175T","missense_variant","CFTR","CFTR:NM_000492:exon22:c.3523C>A:p.Pro1175Thr","0|0|0","0|0",".",".",".",".","0.0","N","117267630_C_A",".",{"$nulls":4},"p.P1175T","N"]
["VUS",1,"VUS","VUS",7,117267641,"A","G",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon22:c.A3534G:p.S1178S","synonymous_variant","CFTR","CFTR:NM_000492:exon22:c.3534A>G:p.Ser1178=","0|0|0","0|0",".",".",".",".","0.0","N","117267641_A_G",".",{"$nulls":4},"p.S1178S","N"]
["VUS",1,"VUS","VUS",7,117267651,"T","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon22:c.T3544C:p.Y1182H","missense_variant","CFTR","CFTR:NM_000492:exon22:c.3544T>C:p.Tyr1182His","1|0|8.23736799617786e-06","0|0","0.28","T","0.0","B","0.0","N","117267651_T_C",".",{"$nulls":4},"p.Y1182H","N"]
["VUS",1,"VUS","VUS",7,117267653,"C","T",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon22:c.C3546T:p.Y1182Y","synonymous_variant","CFTR","CFTR:NM_000492:exon22:c.3546C>T:p.Tyr1182=","0|0|0","0|0",".",".",".",".","0.000","N","117267653_C_T",".",{"$nulls":4},"p.Y1182Y","N"]
["VUS",1,"VUS","VUS",7,117267661,"G","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon22:c.G3554T:p.G1185V","missense_variant","CFTR","CFTR:NM_000492:exon22:c.3554G>T:p.Gly1185Val","0|0|0","0|0",".",".",".",".","0.0","N","117267661_G_T",".",{"$nulls":4},"p.G1185V","N"]
["VUS",1,"VUS","VUS",7,117267670,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon22:c.C3563T:p.S1188L","missense_variant","CFTR","CFTR:NM_000492:exon22:c.3563C>T:p.Ser1188Leu","0|0|0","0|0",".",".",".",".","0.989","D","117267670_C_T",".","VCV000828070","Cystic fibrosis|CFTR-related disorders","Uncertain significance(Last reviewed: Aug 2, 2020)","criteria provided, single submitter","p.S1188L","N"]
["LB",0,"VUS","LB",7,117267671,"G","A","rs146804928","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon22:c.G3564A:p.S1188S","synonymous_variant","CFTR","CFTR:NM_000492:exon22:c.3564G>A:p.Ser1188=","16|0|0.000131795716639209","0.000199681|0",".",".",".",".","0.125","N","117267671_G_A",".","VCV000093152","not specified|not provided|Cystic fibrosis","Conflicting interpretations of pathogenicity(Last reviewed: Nov 14, 2020)","criteria provided, conflicting interpretations","p.S1188S","N"]
["VUS",1,"VUS","VUS",7,117267693,"T","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon22:c.T3586C:p.S1196P","missense_variant","CFTR","CFTR:NM_000492:exon22:c.3586T>C:p.Ser1196Pro","0|0|0","0|0","0.36","T","0.0","B","0.0","N","117267693_T_C",".",{"$nulls":4},"p.S1196P","N"]
["LB",1,"LB","LB",7,117267698,"C","T",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon22:c.C3591T:p.H1197H","synonymous_variant","CFTR","CFTR:NM_000492:exon22:c.3591C>T:p.His1197=","0|0|0","0|0",".",".",".",".","1.000","D","117267698_C_T",".","VCV000698558","Cystic fibrosis","Likely benign(Last reviewed: Oct 21, 2020)","criteria provided, single submitter","p.H1197H","N"]
["VUS",1,"VUS","VUS",7,117267730,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon22:c.G3623A:p.G1208D","missense_variant","CFTR","CFTR:NM_000492:exon22:c.3623G>A:p.Gly1208Asp","1|0|8.23709658819459e-06","0|0",".",".",".",".","1.0","D","117267730_G_A","DM","VCV000550417","Cystic fibrosis","Uncertain significance(Last reviewed: Jan 24, 2017)","criteria provided, single submitter","p.G1208D","N"]
["VUS",1,"VUS","VUS",7,117267738,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon22:c.A3631G:p.T1211A","missense_variant","CFTR","CFTR:NM_000492:exon22:c.3631A>G:p.Thr1211Ala","0|0|0","0|0","0.5","T","0.044","B","0.797","D","117267738_A_G",".",{"$nulls":4},"p.T1211A","N"]
["VUS",1,"VUS","VUS",7,117267766,"C","T","rs1800123","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon22:c.C3659T:p.T1220I","missense_variant","CFTR","CFTR:NM_000492:exon22:c.3659C>T:p.Thr1220Ile","16|0|0.00013178920316953","0.000199681|0",".",".",".",".","0.000","A","117267766_C_T","DM?","VCV000007214","not specified|Cystic fibrosis|Inborn genetic diseases|not provided","Uncertain significance(Last reviewed: Jul 14, 2021)","criteria provided, multiple submitters, no conflicts","p.T1220I","N"]
["VUS",1,"VUS","VUS",7,117267771,"G","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon22:c.G3664T:p.G1222C","missense_variant","CFTR","CFTR:NM_000492:exon22:c.3664G>T:p.Gly1222Cys","0|0|0","0|0","0","D","0.443","B","0.091","N","117267771_G_T",".",{"$nulls":4},"p.G1222C","N"]
["VUS",1,"VUS","VUS",7,117267783,"A","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon22:c.A3676T:p.I1226L","missense_variant","CFTR","CFTR:NM_000492:exon22:c.3676A>T:p.Ile1226Leu","0|0|0","0|0","0","D","0.005","B","0.060","N","117267783_A_T",".",{"$nulls":4},"p.I1226L","N"]
["VUS",1,"VUS","VUS",7,117267799,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon22:c.C3692T:p.S1231F","missense_variant","CFTR","CFTR:NM_000492:exon22:c.3692C>T:p.Ser1231Phe","0|0|0","0|0",".",".",".",".","1.0","D","117267799_C_T",".",{"$nulls":4},"p.S1231F","N"]
["P/LP",1,"P/LP","P/LP",7,117267807,"A","G","rs75389940","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon22:c.A3700G:p.I1234V","missense_variant","CFTR","CFTR:NM_000492:exon22:c.3700A>G:p.Ile1234Val","1|0|8.23682519809565e-06","0|0","0.25","T","0.006","B","0.838","D","117267807_A_G","DM","VCV000007215","not provided|Cystic fibrosis","Pathogenic(Last reviewed: Mar 17, 2017)","reviewed by expert panel","p.I1234V","N"]
["LB",1,"LB","LB",7,117267812,"T","G","rs34911792","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon22:c.T3705G:p.S1235R","missense_variant","CFTR","CFTR:NM_000492:exon22:c.3705T>G:p.Ser1235Arg","600|2|0.00494209511885739","0.00179712|1","0.11","T","0.199","B","0.926","D","117267812_T_G","DM?","VCV000035872","Inborn genetic diseases|CFTR-related disorders|not specified|Obstructive azoospermia|none provided|Cystic fibrosis|not provided","Conflicting interpretations of pathogenicity(Last reviewed: Aug 23, 2021)","criteria provided, conflicting interpretations","p.S1235R","N"]
["VUS",1,"VUS","VUS",7,117267817,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon22:c.G3710A:p.G1237D","missense_variant","CFTR","CFTR:NM_000492:exon22:c.3710G>A:p.Gly1237Asp","5|0|4.11848044545485e-05","0|0",".",".",".",".","1.0","D","117267817_G_A",".","VCV000598723","not provided|Cystic fibrosis","Uncertain significance(Last reviewed: Oct 29, 2018)","criteria provided, multiple submitters, no conflicts","p.G1237D","N"]
["VUS",0,"P/LP","VUS",7,117267829,"G","C",".","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon22:c.3717+5G>C:","0|0|0","0|0",".",".",".",".","1.0","D","117267829_G_C",".",{"$nulls":4},"c.3717+5G>C","N"]
["LB",1,"LB","LB",7,117267869,"G","A","rs145743767","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon22:c.3717+45G>A:","136|0|0.00112092839245681","0.00259585|0",".",".",".",".",".",".","117267869_G_A","DM?","VCV000053790","not specified|Cystic fibrosis","Benign/Likely benign(Last reviewed: Dec 4, 2020)","criteria provided, multiple submitters, no conflicts","c.3717+45G>A","N"]
["VUS",0,"LB","VUS-PS4(PMID:17662673+23810505+28408918)",7,117282468,"G","A","rs374013084","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon23:c.3718-24G>A:","116|1|0.00095545598313126","0.00119808|0",".",".",".",".",".",".","117282468_G_A","DM","VCV000499621","Cystic fibrosis|none provided|not provided","Conflicting interpretations of pathogenicity(Last reviewed: Dec 7, 2020)","criteria provided, conflicting interpretations","c.3718-24G>A","N"]
["VUS",1,"VUS","VUS",7,117282492,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon23:c.G3718A:p.V1240M","missense_variant","CFTR","CFTR:NM_000492:exon23:c.3718G>A:p.Val1240Met","0|0|0","0|0",".",".","0.411","B","1.000","D","117282492_G_A",".",{"$nulls":4},"p.V1240M","N"]
["VUS",1,"VUS","VUS",7,117282497,"C","A","rs185065886","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon23:c.C3723A:p.G1241G","synonymous_variant","CFTR","CFTR:NM_000492:exon23:c.3723C>A:p.Gly1241=","3|0|2.47096614776378e-05","0.000199681|0",".",".",".",".",".",".","117282497_C_A",".","VCV000824125","Cystic fibrosis|Inborn genetic diseases","Likely benign(Last reviewed: Nov 26, 2020)","criteria provided, multiple submitters, no conflicts","p.G1241G","N"]
["VUS",1,"VUS","VUS",7,117282500,"C","T",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon23:c.C3726T:p.L1242L","synonymous_variant","CFTR","CFTR:NM_000492:exon23:c.3726C>T:p.Leu1242=","1|0|8.23655382587925e-06","0|0",".",".",".",".",".",".","117282500_C_T",".","VCV001116479","Cystic fibrosis","Likely benign(Last reviewed: Aug 12, 2020)","criteria provided, single submitter","p.L1242L","N"]
["VUS",1,"VUS","VUS",7,117282508,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon23:c.G3734A:p.R1245K","missense_variant","CFTR","CFTR:NM_000492:exon23:c.3734G>A:p.Arg1245Lys","0|0|0","0|0","0","D","0.992","D","1.000","D","117282508_G_A",".",{"$nulls":4},"p.R1245K","N"]
["VUS",1,"VUS","VUS",7,117282511,"C","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon23:c.C3737G:p.T1246S","missense_variant","CFTR","CFTR:NM_000492:exon23:c.3737C>G:p.Thr1246Ser","0|0|0","0|0","0","D","0.529","P","1.0","D","117282511_C_G",".",{"$nulls":4},"p.T1246S","N"]
["VUS",0,"VUS","VUS",7,117282525,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon23:c.A3751G:p.S1251G","missense_variant","CFTR","CFTR:NM_000492:exon23:c.3751A>G:p.Ser1251Gly","0|0|0","0|0","0","D","0.816","P","1.0","D","117282525_A_G",".",{"$nulls":4},"p.S1251G","N"]
["P/LP",0,"VUS","LP-PVS1+PM2_Supp",7,117282538,"C","G",".","CFTR","stopgain SNV","CFTR","CFTR:NM_000492:exon23:c.C3764G:p.S1255X","stop_gained","CFTR","CFTR:NM_000492:exon23:c.3764C>G:p.Ser1255Ter","0|0|0","0|0","1","T",".",".","1","A","117282538_C_G",".",{"$nulls":4},"p.S1255X","N"]
["VUS",1,"VUS","VUS",7,117282552,"C","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon23:c.C3778G:p.L1260V","missense_variant","CFTR","CFTR:NM_000492:exon23:c.3778C>G:p.Leu1260Val","0|0|0","0|0","0.04","D","0.633","P","0.998","D","117282552_C_G",".",{"$nulls":4},"p.L1260V","N"]
["VUS",1,"VUS","VUS",7,117282578,"G","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon23:c.G3804T:p.Q1268H","missense_variant","CFTR","CFTR:NM_000492:exon23:c.3804G>T:p.Gln1268His","0|0|0","0|0","0.57","T","0.866","P","0.857","D","117282578_G_T",".",{"$nulls":4},"p.Q1268H","N"]
["LB",1,"LB","LB",7,117282581,"C","T","rs1800129","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon23:c.C3807T:p.I1269I","synonymous_variant","CFTR","CFTR:NM_000492:exon23:c.3807C>T:p.Ile1269=","4|0|3.2946758039009e-05","0|0",".",".",".",".",".",".","117282581_C_T",".","VCV000256254","not specified","Likely benign(Last reviewed: Aug 28, 2019)","criteria provided, multiple submitters, no conflicts","p.I1269I","N"]
["LB",0,"LB","VUS",7,117282582,"G","A","rs11971167","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon23:c.G3808A:p.D1270N","missense_variant","CFTR","CFTR:NM_000492:exon23:c.3808G>A:p.Asp1270Asn","177|1|0.00145794207769102","0.00519169|1","0","D","1.0","D","1","A","117282582_G_A","DM?","VCV000007164","not specified|ivacaftor response - Efficacy|Hereditary pancreatitis|CFTR-related disorders|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Inborn genetic diseases|not provided","drug response(Last reviewed: Mar 23, 2018)","reviewed by expert panel","p.D1270N","N"]
["VUS",1,"VUS","VUS",7,117282589,"T","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon23:c.T3815G:p.V1272G","missense_variant","CFTR","CFTR:NM_000492:exon23:c.3815T>G:p.Val1272Gly","1|0|8.23668950975224e-06","0|0","0","D","0.976","D","1.0","D","117282589_T_G",".",{"$nulls":4},"p.V1272G","N"]
["VUS",1,"VUS","VUS",7,117282595,"G","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon23:c.G3821C:p.W1274S","missense_variant","CFTR","CFTR:NM_000492:exon23:c.3821G>C:p.Trp1274Ser","0|0|0","0|0","0.51","T","0.629","P","1.0","D","117282595_G_C",".",{"$nulls":4},"p.W1274S","N"]
["VUS",1,"VUS","VUS",7,117282603,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon23:c.A3829G:p.I1277V","missense_variant","CFTR","CFTR:NM_000492:exon23:c.3829A>G:p.Ile1277Val","0|0|0","0|0","0.22","T","0.004","B","0.031","N","117282603_A_G",".",{"$nulls":4},"p.I1277V","N"]
["VUS",1,"VUS","VUS",7,117282638,"G","C",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon23:c.G3864C:p.V1288V","synonymous_variant","CFTR","CFTR:NM_000492:exon23:c.3864G>C:p.Val1288=","0|0|0","0|0",".",".",".",".",".",".","117282638_G_C",".",{"$nulls":4},"p.V1288V","N"]
["VUS",0,"P/LP","VUS-PM2-Supp+PM4+",7,117282640,"TACC","T",".","CFTR","nonframeshift substitution","CFTR","CFTR:NM_000492:exon23:c.3866_3869T","inframe_deletion","CFTR","CFTR:NM_000492:exon23:c.3867_3869del:p.Pro1290del","0|0|0","0|0",".",".",".",".",".",".","117282640_TACC_T",".",{"$nulls":4},"c.3866_3869T","N"]
["VUS",0,"LB","VUS?-rare",7,117292867,"CT","C",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon24:c.3874-28del:","0|0|0","0|0",".",".",".",".",".",".","117292867_CT_C",".",{"$nulls":4},"c.3874-28del","N"]
["VUS",1,"VUS","VUS?-rare",7,117292868,"TTTC","T",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon24:c.3874-27_3874-25del:","7|0|5.77767506355443e-05","0|0",".",".",".",".",".",".","117292868_TTTC_T","DM?","VCV000053831","Cystic fibrosis|none provided","Likely benign(Last reviewed: Nov 12, 2020)","criteria provided, multiple submitters, no conflicts","c.3874-27_3874-25del","N"]
["VUS",1,"VUS","VUS?-rare",7,117292871,"C","A",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon24:c.3874-25C>A:","9|0|7.42782628790255e-05","0.000199681|0",".",".",".",".",".",".","117292871_C_A",".",{"$nulls":4},"c.3874-25C>A","N"]
["VUS",1,"VUS","VUS",7,117292892,"A","G","rs201381687","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon24:c.3874-4A>G:","2|0|1.64823391735755e-05","0|0",".",".",".",".",".",".","117292892_A_G","DM?","VCV000053833","CFTR-related disorders|Cystic fibrosis","Conflicting interpretations of pathogenicity(Last reviewed: Nov 17, 2020)","criteria provided, conflicting interpretations","c.3874-4A>G","N"]
["VUS",1,"VUS","VUS",7,117292915,"G","C","rs193922522","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon24:c.G3893C:p.G1298A","missense_variant","CFTR","CFTR:NM_000492:exon24:c.3893G>C:p.Gly1298Ala","0|0|0","0|0","0.02","D","1.0","D","1.0","D","117292915_G_C",".","VCV000035878","Cystic fibrosis","Uncertain significance(Last reviewed: Sep 16, 2020)","no assertion criteria provided","p.G1298A","N"]
["VUS",1,"VUS","VUS",7,117292928,"A","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon24:c.A3906C:p.K1302N","missense_variant","CFTR","CFTR:NM_000492:exon24:c.3906A>C:p.Lys1302Asn","0|0|0","0|0","0.13","T","0.497","P","0.980","D","117292928_A_C",".",{"$nulls":4},"p.K1302N","N"]
["VUS",1,"VUS","VUS",7,117292934,"G","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon24:c.G3912T:p.L1304F","missense_variant","CFTR","CFTR:NM_000492:exon24:c.3912G>T:p.Leu1304Phe","0|0|0","0|0","0","D","1.0","D","1.0","D","117292934_G_T",".",{"$nulls":4},"p.L1304F","N"]
["VUS",1,"VUS","VUS",7,117292950,"T","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon24:c.T3928C:p.W1310R","missense_variant","CFTR","CFTR:NM_000492:exon24:c.3928T>C:p.Trp1310Arg","0|0|0","0|0","0.01","D","0.653","P","1.000","D","117292950_T_C",".",{"$nulls":4},"p.W1310R","N"]
["VUS",1,"VUS","VUS",7,117292954,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon24:c.G3932A:p.S1311N","missense_variant","CFTR","CFTR:NM_000492:exon24:c.3932G>A:p.Ser1311Asn","0|0|0","0|0","0.17","T","0.007","B","0.960","D","117292954_G_A",".",{"$nulls":4},"p.S1311N","N"]
["VUS",1,"VUS","VUS",7,117292968,"T","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon24:c.T3946C:p.W1316R","missense_variant","CFTR","CFTR:NM_000492:exon24:c.3946T>C:p.Trp1316Arg","0|0|0","0|0","0.02","D","0.988","D","1.000","D","117292968_T_C",".",{"$nulls":4},"p.W1316R","N"]
["VUS",1,"VUS","VUS",7,117292975,"T","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon24:c.T3953C:p.V1318A","missense_variant","CFTR","CFTR:NM_000492:exon24:c.3953T>C:p.Val1318Ala","0|0|0","0|0","0.84","T","0.96","D","1.0","D","117292975_T_C","DM","VCV000053860","Cystic fibrosis","Uncertain significance(Last reviewed: Mar 16, 2017)","criteria provided, single submitter","p.V1318A","N"]
["VUS",1,"VUS","VUS",7,117292983,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon24:c.G3961A:p.E1321K","missense_variant","CFTR","CFTR:NM_000492:exon24:c.3961G>A:p.Glu1321Lys","1|0|8.23709658819459e-06","0|0","0.16","T","0.31","B","1.000","D","117292983_G_A",".",{"$nulls":4},"p.E1321K","N"]
["VUS",1,"VUS","VUS?-rare",7,117304704,"T","C",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon25:c.3964-38T>C:","1|0|8.23682519809565e-06","0.000399361|0",".",".",".",".",".",".","117304704_T_C",".",{"$nulls":4},"c.3964-38T>C","N"]
["LB?",1,"LB","LB?",7,117304714,"G","A",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon25:c.3964-28G>A:","9|1|7.41314267828608e-05","0|0",".",".",".",".",".",".","117304714_G_A","DM","VCV000053863","Cystic fibrosis","Uncertain significance(Last reviewed: May 15, 2017)","criteria provided, single submitter","c.3964-28G>A","N"]
["VUS",1,"VUS","VUS?-rare",7,117304725,"A","G",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon25:c.3964-17A>G:","0|0|0","0|0",".",".",".",".",".",".","117304725_A_G",".",{"$nulls":4},"c.3964-17A>G","N"]
["VUS",1,"VUS","VUS",7,117304737,"T","G",".","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon25:c.3964-5T>G:","0|0|0","0|0",".",".",".",".",".",".","117304737_T_G",".",{"$nulls":4},"c.3964-5T>G","N"]
["VUS",0,"P/LP","VUS",7,117304739,"C","A",".","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon25:c.3964-3C>A:","0|0|0","0|0",".",".",".",".",".",".","117304739_C_A",".",{"$nulls":4},"c.3964-3C>A","N"]
["VUS",1,"VUS","VUS",7,117304757,"G","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon25:c.G3979T:p.V1327L","missense_variant","CFTR","CFTR:NM_000492:exon25:c.3979G>T:p.Val1327Leu","0|0|0","0|0","0.44","T","0.513","P","1.000","D","117304757_G_T",".",{"$nulls":4},"p.V1327L","N"]
["P/LP",1,"P/LP","LP-PVS1+PM2_Supp",7,117304764,"AAC","A",".","CFTR","frameshift substitution","CFTR","CFTR:NM_000492:exon25:c.3986_3988A","frameshift_variant","CFTR","CFTR:NM_000492:exon25:c.3987_3988del:p.Gln1330ValfsTer6","0|0|0","0|0",".",".",".",".",".",".","117304764_AAC_A",".","VCV000370397","Cystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation","Likely pathogenic(Last reviewed: Feb 1, 2016)","criteria provided, multiple submitters, no conflicts","p.Q1330fs","N"]
["VUS",1,"VUS","VUS",7,117304787,"T","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon25:c.T4009C:p.F1337L","missense_variant","CFTR","CFTR:NM_000492:exon25:c.4009T>C:p.Phe1337Leu","0|0|0","0|0","0.11","T","0.996","D","1.0","D","117304787_T_C",".",{"$nulls":4},"p.F1337L","N"]
["VUS",1,"VUS","VUS",7,117304792,"C","T",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon25:c.C4014T:p.V1338V","synonymous_variant","CFTR","CFTR:NM_000492:exon25:c.4014C>T:p.Val1338=","0|0|0","0|0",".",".",".",".",".",".","117304792_C_T",".",{"$nulls":4},"p.V1338V","N"]
["VUS",1,"VUS","VUS",7,117304797,"T","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon25:c.T4019C:p.V1340A","missense_variant","CFTR","CFTR:NM_000492:exon25:c.4019T>C:p.Val1340Ala","0|0|0","0|0","0.86","T","0.063","B","0.918","D","117304797_T_C",".",{"$nulls":4},"p.V1340A","N"]
["VUS",1,"VUS","VUS",7,117304806,"G","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon25:c.G4028T:p.G1343V","missense_variant","CFTR","CFTR:NM_000492:exon25:c.4028G>T:p.Gly1343Val","0|0|0","0|0","0","D","1.0","D","1.0","D","117304806_G_T",".","VCV000495940","not provided","Uncertain significance(Last reviewed: Jun 6, 2017)","criteria provided, single submitter","p.G1343V","N"]
["VUS",1,"VUS","VUS",7,117304823,"G","A","rs201686600","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon25:c.G4045A:p.G1349S","missense_variant","CFTR","CFTR:NM_000492:exon25:c.4045G>A:p.Gly1349Ser","3|0|2.47092544394294e-05","0.000199681|0","0","D","1.0","D","1.0","D","117304823_G_A","DM","VCV000053880","not specified|not provided|Cystic fibrosis","Uncertain significance(Last reviewed: Jan 24, 2018)","criteria provided, multiple submitters, no conflicts","p.G1349S","N"]
["VUS",1,"VUS","VUS",7,117304825,"C","A",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon25:c.C4047A:p.G1349G","synonymous_variant","CFTR","CFTR:NM_000492:exon25:c.4047C>A:p.Gly1349=","0|0|0","0|0",".",".",".",".",".",".","117304825_C_A",".",{"$nulls":4},"p.G1349G","N"]
["VUS",0,"LB","VUS",7,117304834,"G","C","rs113857788","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon25:c.G4056C:p.Q1352H","missense_variant","CFTR","CFTR:NM_000492:exon25:c.4056G>C:p.Gln1352His","118|4|0.000971897341284222","0.00419329|1","0","D","1.0","D","1.000","D","117304834_G_C","DM","VCV000007237","Cystic fibrosis|not specified|not provided|CFTR-related disorders|Inborn genetic diseases|none provided","Conflicting interpretations of pathogenicity(Last reviewed: Sep 7, 2021)","criteria provided, conflicting interpretations","p.Q1352H","N"]
["VUS",1,"VUS","VUS",7,117304839,"T","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon25:c.T4061C:p.M1354T","missense_variant","CFTR","CFTR:NM_000492:exon25:c.4061T>C:p.Met1354Thr","6|0|4.94185088788588e-05","0|0","0","D","0.099","B","1.000","D","117304839_T_C",".","VCV000495942","Cystic fibrosis|not provided","Uncertain significance(Last reviewed: Aug 31, 2020)","criteria provided, multiple submitters, no conflicts","p.M1354T","N"]
["VUS",1,"VUS","VUS",7,117304842,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon25:c.G4064A:p.C1355Y","missense_variant","CFTR","CFTR:NM_000492:exon25:c.4064G>A:p.Cys1355Tyr","0|0|0","0|0","0","D","0.981","D","1.0","D","117304842_G_A",".",{"$nulls":4},"p.C1355Y","N"]
["VUS",1,"VUS","VUS",7,117304844,"T","C",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon25:c.T4066C:p.L1356L","synonymous_variant","CFTR","CFTR:NM_000492:exon25:c.4066T>C:p.Leu1356=","0|0|0","0|0",".",".",".",".",".",".","117304844_T_C",".",{"$nulls":4},"p.L1356L","N"]
["VUS",1,"VUS","VUS",7,117304859,"C","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon25:c.C4081G:p.L1361V","missense_variant","CFTR","CFTR:NM_000492:exon25:c.4081C>G:p.Leu1361Val","1|0|8.23641814647646e-06","0|0","0.07","T","0.999","D","1.0","D","117304859_C_G",".","VCV000849282","Cystic fibrosis","Uncertain significance(Last reviewed: Feb 14, 2019)","criteria provided, single submitter","p.L1361V","N"]
["VUS",1,"VUS","VUS",7,117304869,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon25:c.C4091T:p.A1364V","missense_variant","CFTR","CFTR:NM_000492:exon25:c.4091C>T:p.Ala1364Val","2|0|1.64728362929529e-05","0|0","0.07","T","1.0","D","1.0","D","117304869_C_T","DM","VCV000053885","Hereditary pancreatitis|not specified|Cystic fibrosis","Uncertain significance(Last reviewed: Aug 16, 2020)","criteria provided, multiple submitters, no conflicts","p.A1364V","N"]
["VUS",1,"VUS","VUS",7,117304908,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon25:c.A4130G:p.D1377G","missense_variant","CFTR","CFTR:NM_000492:exon25:c.4130A>G:p.Asp1377Gly","0|0|0","0|0","0","D","0.999","D","1.0","D","117304908_A_G",".",{"$nulls":4},"p.D1377G","N"]
["VUS",1,"VUS","VUS?-rare",7,117304925,"G","A",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon25:c.4136+11G>A:","0|0|0","0|0",".",".",".",".",".",".","117304925_G_A",".",{"$nulls":4},"c.4136+11G>A","N"]
["VUS",1,"VUS","VUS?-rare",7,117304926,"A","G",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon25:c.4136+12A>G:","1|0|8.23641814647646e-06","0|0",".",".",".",".",".",".","117304926_A_G",".",{"$nulls":4},"c.4136+12A>G","N"]
["VUS",1,"VUS","VUS",7,117305509,"C","A",".","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon26:c.4137-4C>A:","1|0|8.23791086580443e-06","0|0",".",".",".",".",".",".","117305509_C_A",".",{"$nulls":4},"c.4137-4C>A","N"]
["VUS",1,"VUS","VUS",7,117305538,"C","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon26:c.C4162G:p.L1388V","missense_variant","CFTR","CFTR:NM_000492:exon26:c.4162C>G:p.Leu1388Val","0|0|0","0|0","0.14","T","0.105","B","1.0","D","117305538_C_G",".","VCV000439083","not specified","Uncertain significance(Last reviewed: Jan 5, 2017)","criteria provided, single submitter","p.L1388V","N"]
["VUS",1,"VUS","VUS",7,117305547,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon26:c.G4171A:p.A1391T","missense_variant","CFTR","CFTR:NM_000492:exon26:c.4171G>A:p.Ala1391Thr","0|0|0","0|0","0.28","T","0.019","B","1.000","D","117305547_G_A",".",{"$nulls":4},"p.A1391T","N"]
["VUS",1,"VUS","VUS",7,117305563,"C","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon26:c.C4187A:p.T1396K","missense_variant","CFTR","CFTR:NM_000492:exon26:c.4187C>A:p.Thr1396Lys","0|0|0","0|0","0","D","0.999","D","1.0","D","117305563_C_A",".",{"$nulls":4},"p.T1396K","N"]
["VUS",1,"VUS","VUS",7,117305606,"C","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon26:c.C4230G:p.C1410W","missense_variant","CFTR","CFTR:NM_000492:exon26:c.4230C>G:p.Cys1410Trp","0|0|0","0|0","0.02","D","0.998","D","1.0","D","117305606_C_G",".","VCV000577321","Cystic fibrosis","Uncertain significance(Last reviewed: Jun 6, 2018)","criteria provided, single submitter","p.C1410W","N"]
["VUS",1,"VUS","VUS?-rare",7,117305630,"T","C",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon26:c.4242+12T>C:","0|0|0","0|0",".",".",".",".",".",".","117305630_T_C",".",{"$nulls":4},"c.4242+12T>C","N"]
["LB",1,"LB","LB",7,117305631,"A","G","rs76179227","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon26:c.4242+13A>G:","417|1|0.00343520883104045","0.00199681|1",".",".",".",".",".",".","117305631_A_G","DM?","VCV000093155","not provided|not specified|none provided|CFTR-related disorders|Cystic fibrosis","Benign/Likely benign(Last reviewed: Dec 8, 2020)","criteria provided, multiple submitters, no conflicts","c.4242+13A>G","N"]
["VUS",1,"VUS","VUS?-rare",7,117305637,"A","T",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon26:c.4242+19A>T:","0|0|0","0|0",".",".",".",".",".",".","117305637_A_T",".",{"$nulls":4},"c.4242+19A>T","N"]
["VUS",1,"VUS","VUS?-rare",7,117305679,"A","C",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon26:c.4242+61A>C:","0|0|0","0|0",".",".",".",".",".",".","117305679_A_C",".",{"$nulls":4},"c.4242+61A>C","N"]
["VUS",1,"VUS","VUS?-rare",7,117305686,"A","G",".","CFTR",".","CFTR",".","intron_variant","CFTR","CFTR:NM_000492:exon26:c.4242+68A>G:","0|0|0","0|0",".",".",".",".",".",".","117305686_A_G",".",{"$nulls":4},"c.4242+68A>G","N"]
["VUS",1,"VUS","VUS",7,117306956,"C","T",".","CFTR",".","CFTR",".","splice_region_variant","CFTR","CFTR:NM_000492:exon27:c.4243-6C>T:","0|0|0","0|0",".",".",".",".",".",".","117306956_C_T",".",{"$nulls":4},"c.4243-6C>T","N"]
["VUS",1,"VUS","VUS",7,117306964,"C","T",".","CFTR","synonymous SNV","CFTR","CFTR:NM_000492:exon27:c.C4245T:p.V1415V","splice_region_variant","CFTR","CFTR:NM_000492:exon27:c.4245C>T:p.Val1415=","0|0|0","0|0",".",".",".",".",".",".","117306964_C_T",".",{"$nulls":4},"p.V1415V","N"]
["VUS",1,"VUS","VUS",7,117306975,"A","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon27:c.A4256C:p.N1419T","missense_variant","CFTR","CFTR:NM_000492:exon27:c.4256A>C:p.Asn1419Thr","0|0|0","0|0","0","D","0.044","B","0.949","D","117306975_A_C",".",{"$nulls":4},"p.N1419T","N"]
["VUS",1,"VUS","VUS",7,117306981,"T","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon27:c.T4262A:p.V1421E","missense_variant","CFTR","CFTR:NM_000492:exon27:c.4262T>A:p.Val1421Glu","0|0|0","0|0","0","D","0.797","P","1.0","D","117306981_T_A","DM",{"$nulls":4},"p.V1421E","N"]
["VUS",1,"VUS","VUS",7,117306984,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon27:c.G4265A:p.R1422Q","missense_variant","CFTR","CFTR:NM_000492:exon27:c.4265G>A:p.Arg1422Gln","3|0|2.47100685292567e-05","0|0","0.39","T","0.11","B","0.956","D","117306984_G_A",".","VCV000993611","none provided","Uncertain significance(Last reviewed: Aug 14, 2019)","criteria provided, single submitter","p.R1422Q","N"]
["P/LP",1,"P/LP","LP-PVS1+PM2_Supp",7,117306986,"C","T",".","CFTR","stopgain SNV","CFTR","CFTR:NM_000492:exon27:c.C4267T:p.Q1423X","stop_gained","CFTR","CFTR:NM_000492:exon27:c.4267C>T:p.Gln1423Ter","0|0|0","0|0","0.02","D",".",".","1.0","D","117306986_C_T",".",{"$nulls":4},"p.Q1423X","N"]
["VUS",1,"VUS","VUS",7,117307015,"C","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon27:c.C4296G:p.N1432K","missense_variant","CFTR","CFTR:NM_000492:exon27:c.4296C>G:p.Asn1432Lys","3|0|2.47104755942869e-05","0|0","0.31","T","0.153","B","0.190","N","117307015_C_G",".","VCV000824764","Cystic fibrosis|Inborn genetic diseases","Uncertain significance(Last reviewed: Aug 8, 2019)","criteria provided, multiple submitters, no conflicts","p.N1432K","N"]
["P/LP",1,"P/LP","LP-PVS1+PM2_Supp",7,117307016,"G","T",".","CFTR","stopgain SNV","CFTR","CFTR:NM_000492:exon27:c.G4297T:p.E1433X","stop_gained","CFTR","CFTR:NM_000492:exon27:c.4297G>T:p.Glu1433Ter","0|0|0","0|0","0.39","T",".",".","1.0","D","117307016_G_T",".","VCV000558578","Cystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation","Likely pathogenic(Last reviewed: May 29, 2018)","criteria provided, multiple submitters, no conflicts","p.E1433X","N"]
["VUS",1,"VUS","VUS",7,117307016,"G","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon27:c.G4297A:p.E1433K","missense_variant","CFTR","CFTR:NM_000492:exon27:c.4297G>A:p.Glu1433Lys","2|0|1.64736503961913e-05","0|0","0.39","T","0.985","D","1.0","D","117307016_G_A","DM","VCV000558250","Cystic fibrosis","Uncertain significance(Last reviewed: Oct 23, 2019)","criteria provided, multiple submitters, no conflicts","p.E1433K","N"]
["VUS",1,"VUS","VUS",7,117307018,"G","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon27:c.G4299C:p.E1433D","missense_variant","CFTR","CFTR:NM_000492:exon27:c.4299G>C:p.Glu1433Asp","0|0|0","0|0","0.24","T","0.993","D","1.0","D","117307018_G_C",".",{"$nulls":4},"p.E1433D","N"]
["VUS",1,"VUS","VUS",7,117307032,"G","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon27:c.G4313C:p.R1438P","missense_variant","CFTR","CFTR:NM_000492:exon27:c.4313G>C:p.Arg1438Pro","0|0|0","0|0","0.11","T","0.227","B","0.322","N","117307032_G_C",".",{"$nulls":4},"p.R1438P","N"]
["VUS",1,"VUS","VUS",7,117307038,"C","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon27:c.C4319G:p.A1440G","missense_variant","CFTR","CFTR:NM_000492:exon27:c.4319C>G:p.Ala1440Gly","0|0|0","0|0","0.01","D","0.861","P","1.0","D","117307038_C_G",".",{"$nulls":4},"p.A1440G","N"]
["VUS",1,"VUS","VUS",7,117307046,"C","T",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon27:c.C4327T:p.P1443S","missense_variant","CFTR","CFTR:NM_000492:exon27:c.4327C>T:p.Pro1443Ser","0|0|0","0|0","0.49","T","0.001","B","0.247","N","117307046_C_T",".",{"$nulls":4},"p.P1443S","N"]
["VUS",0,"LB","VUS",7,117307076,"C","T","rs4148725","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon27:c.C4357T:p.R1453W","missense_variant","CFTR","CFTR:NM_000492:exon27:c.4357C>T:p.Arg1453Trp","26|0|0.000214160983163652","0.00119808|0","0","D","0.939","D","1.000","D","117307076_C_T","DM?","VCV000411121","Cystic fibrosis|none provided|CFTR-related disorders|not specified|not provided","Conflicting interpretations of pathogenicity(Last reviewed: Dec 2, 2020)","criteria provided, conflicting interpretations","p.R1453W","N"]
["VUS",1,"VUS","VUS",7,117307077,"G","A","rs141554123","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon27:c.G4358A:p.R1453Q","missense_variant","CFTR","CFTR:NM_000492:exon27:c.4358G>A:p.Arg1453Gln","20|0|0.000164739217818194","0.000798722|0","0.11","T","0.041","B","1.000","D","117307077_G_A",".",{"$nulls":4},"p.R1453Q","N"]
["VUS",1,"VUS","VUS",7,117307087,"C","A",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon27:c.C4368A:p.S1456R","missense_variant","CFTR","CFTR:NM_000492:exon27:c.4368C>A:p.Ser1456Arg","0|0|0","0|0","0","D","0.562","P","1.0","D","117307087_C_A",".",{"$nulls":4},"p.S1456R","N"]
["VUS",1,"VUS","VUS",7,117307138,"A","C",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon27:c.A4419C:p.E1473D","missense_variant","CFTR","CFTR:NM_000492:exon27:c.4419A>C:p.Glu1473Asp","0|0|0","0|0","0.78","T","0.004","B","0.999","D","117307138_A_C",".",{"$nulls":4},"p.E1473D","N"]
["VUS",1,"VUS","VUS",7,117307149,"A","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon27:c.A4430G:p.D1477G","missense_variant","CFTR","CFTR:NM_000492:exon27:c.4430A>G:p.Asp1477Gly","0|0|0","0|0","0.06","T","0.0","B","1.000","D","117307149_A_G",".",{"$nulls":4},"p.D1477G","N"]
["VUS",0,"LB","VUS",7,117307152,"C","G",".","CFTR","nonsynonymous SNV","CFTR","CFTR:NM_000492:exon27:c.C4433G:p.T1478R","missense_variant","CFTR","CFTR:NM_000492:exon27:c.4433C>G:p.Thr1478Arg","3|1|2.47121039885336e-05","0|0","0","D","0.999","D","1.0","D","117307152_C_G","DM","VCV000824887","Inborn genetic diseases","Uncertain significance(Last reviewed: Dec 11, 2018)","criteria provided, single submitter","p.T1478R","N"]