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Gene entry

CFTR

CF transmembrane conductance regulator

Chromosome
7
Cytoband
7q31.2
Variants (rsID)
254

CFTR is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7q31.2). Its official name is “CF transmembrane conductance regulator”. The reference table lists 254 variants (rsID) for this gene.

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Clinically classified variants

196 reference-table entries with clinical significance.

  • rs147945812Benignsingle nucleotide variantCystic fibrosis
  • rs151073129Benignsingle nucleotide variantCystic fibrosis|Hereditary pancreatitis
  • rs213950Benignsingle nucleotide variantCystic fibrosis|Inborn genetic diseases|CFTR-related disorders
  • rs60887846Benignsingle nucleotide variantCystic fibrosis|Inborn genetic diseases|Hereditary pancreatitis
  • rs113857788Conflicting interpretationssingle nucleotide variantCystic fibrosis|CFTR-related disorders|Inborn genetic diseases
  • rs11971167Conflicting interpretationssingle nucleotide variantCongenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Hereditary pancreatitis|Inborn genetic diseases|CFTR-related disorders
  • rs121908790Conflicting interpretationssingle nucleotide variantCystic fibrosis
  • rs121909015Conflicting interpretationssingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs121909046Conflicting interpretationssingle nucleotide variantCystic fibrosis|Inborn genetic diseases|CFTR-related disorders
  • rs140502196Conflicting interpretationssingle nucleotide variantCystic fibrosis|Inborn genetic diseases|CFTR-related disorders|See cases
  • rs144055758Conflicting interpretationssingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders|Inborn genetic diseases|Obstructive azoospermia
  • rs145877746Conflicting interpretationssingle nucleotide variantInborn genetic diseases|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs150157202Conflicting interpretationssingle nucleotide variantCystic fibrosis|Inborn genetic diseases|CFTR-related disorders|Hereditary pancreatitis
  • rs150683293Conflicting interpretationssingle nucleotide variantCFTR-related disorders|Cystic fibrosis
  • rs151048781Conflicting interpretationssingle nucleotide variantCystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders|Inborn genetic diseases
  • rs1800073Conflicting interpretationssingle nucleotide variantCystic fibrosis|Hereditary pancreatitis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Bronchiectasis with or without elevated sweat chloride 1|Inborn genetic diseases|CFTR-related disorders|Hereditary pancreatitis
  • rs1800076Conflicting interpretationssingle nucleotide variantCystic fibrosis|Hereditary pancreatitis|Lung disease, non-specific|Inborn genetic diseases|CFTR-related disorders|Abnormality of the pancreas
  • rs1800079Conflicting interpretationssingle nucleotide variantCystic fibrosis|CFTR-related disorders|Inborn genetic diseases|Hereditary pancreatitis
  • rs1800088Conflicting interpretationssingle nucleotide variantCystic fibrosis
  • rs1800091Conflicting interpretationssingle nucleotide variantCystic fibrosis|Inborn genetic diseases|Hereditary pancreatitis
  • rs1800095Conflicting interpretationssingle nucleotide variantHereditary pancreatitis|Cystic fibrosis|Pancreatitis|Inborn genetic diseases|CFTR-related disorders|Congenital bilateral aplasia of vas deferens from CFTR mutation
  • rs1800097Conflicting interpretationssingle nucleotide variantCystic fibrosis|Inborn genetic diseases|CFTR-related disorders|Hereditary pancreatitis
  • rs1800098Conflicting interpretationssingle nucleotide variantCongenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Chronic sinusitis|Lung disease, non-specific|CFTR-related disorders|Inborn genetic diseases
  • rs1800100Conflicting interpretationssingle nucleotide variantCystic fibrosis|Hereditary pancreatitis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Bronchiectasis with or without elevated sweat chloride 1|Chronic sinusitis|Lung disease, non-specific|CFTR-related disorders|Inborn genetic diseases|Hereditary pancreatitis
  • rs1800103Conflicting interpretationssingle nucleotide variantCystic fibrosis|Hereditary pancreatitis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Bronchiectasis with or without elevated sweat chloride 1|CFTR-related disorders|Inborn genetic diseases|Hereditary pancreatitis
  • rs1800110Conflicting interpretationssingle nucleotide variantCystic fibrosis|Inborn genetic diseases|CFTR-related disorders|Infertility|Hereditary pancreatitis
  • rs1800111Conflicting interpretationssingle nucleotide variantPancreatitis, idiopathic, susceptibility to|Hypertrypsinemia, neonatal, susceptibility to|Cystic fibrosis|Pancreatitis|CFTR-related disorders|Inborn genetic diseases|Infertility|Obstructive azoospermia|Hereditary pancreatitis
  • rs1800131Conflicting interpretationssingle nucleotide variantCystic fibrosis|Inborn genetic diseases|CFTR-related disorders|Hereditary pancreatitis
  • rs183819332Conflicting interpretationssingle nucleotide variantCystic fibrosis
  • rs191456345Conflicting interpretationssingle nucleotide variantCystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Inborn genetic diseases|CFTR-related disorders
  • rs193922501Conflicting interpretationssingle nucleotide variantCystic fibrosis|Inborn genetic diseases|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|CFTR-related disorders|Cystic fibrosis
  • rs193922502Conflicting interpretationssingle nucleotide variantCFTR-related disorders|Cystic fibrosis
  • rs193922511Conflicting interpretationssingle nucleotide variantCongenital bilateral aplasia of vas deferens from CFTR mutation|Inborn genetic diseases|Cystic fibrosis|CFTR-related disorders
  • rs193922529Conflicting interpretationssingle nucleotide variantCystic fibrosis
  • rs201124247Conflicting interpretationssingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|CFTR-related disorders|CFTR-related disorders
  • rs201591901Conflicting interpretationssingle nucleotide variantCystic fibrosis
  • rs201958172Conflicting interpretationssingle nucleotide variantCystic fibrosis|Infertility
  • rs369521395Conflicting interpretationssingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs371315549Conflicting interpretationssingle nucleotide variantCystic fibrosis|CFTR-related disorders|Hereditary pancreatitis
  • rs373885282Conflicting interpretationssingle nucleotide variantCystic fibrosis|Bronchiectasis with or without elevated sweat chloride 1|Hereditary pancreatitis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation
  • rs73215912Conflicting interpretationssingle nucleotide variantCystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation
  • rs74571530Conflicting interpretationssingle nucleotide variantCystic fibrosis|Inborn genetic diseases|CFTR-related disorders|Infertility|Obstructive azoospermia|Hereditary pancreatitis
  • rs75789129Conflicting interpretationssingle nucleotide variantCystic fibrosis|Inborn genetic diseases|CFTR-related disorders
  • rs758147990Conflicting interpretationssingle nucleotide variantInborn genetic diseases|Cystic fibrosis|CFTR-related disorders
  • rs76879328Conflicting interpretationssingle nucleotide variantHereditary pancreatitis
  • rs115545701Drug responsesingle nucleotide variantCystic fibrosis|ivacaftor response - Efficacy|Inborn genetic diseases|Hereditary pancreatitis
  • rs121909020Drug responsesingle nucleotide variantCystic fibrosis|ivacaftor response - Efficacy|Inborn genetic diseases|CFTR-related disorders
  • rs150212784Drug responsesingle nucleotide variantCystic fibrosis|ivacaftor response - Efficacy|Hereditary pancreatitis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Inborn genetic diseases|CFTR-related disorders
  • rs186045772Drug responsesingle nucleotide variantCystic fibrosis|ivacaftor response - Efficacy|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs202179988Drug responsesingle nucleotide variantCystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|ivacaftor response - Efficacy|Cystic fibrosis|Cystic fibrosis|CFTR-related disorders|Inborn genetic diseases|CFTR-related disorders|Congenital bilateral absence of vas deferens
  • rs75541969Drug responsesingle nucleotide variantCystic fibrosis|ivacaftor response - Efficacy|CFTR-related disorders|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Inborn genetic diseases|Male infertility|Congenital bilateral aplasia of vas deferens from CFTR mutation|Obstructive azoospermia|CFTR-related disorders
  • rs137975784Likely pathogenicsingle nucleotide variantCystic fibrosis
  • rs193922498Likely pathogenicsingle nucleotide variantCystic fibrosis
  • rs193922515Likely pathogenicsingle nucleotide variantCystic fibrosis
  • rs193922519Likely pathogenicsingle nucleotide variantCystic fibrosis
  • rs193922521Likely pathogenicDuplicationCystic fibrosis
  • rs193922524Likely pathogenicsingle nucleotide variantCystic fibrosis
  • rs193922526Likely pathogenicsingle nucleotide variantCystic fibrosis
  • rs193922528Likely pathogenicsingle nucleotide variantCystic fibrosis
  • rs113993958Pathogenicsingle nucleotide variantCystic fibrosis|ivacaftor response - Efficacy|CFTR-related disorders|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|CFTR-related disorders|Hereditary pancreatitis
  • rs121908750Pathogenicsingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs121908752Pathogenicsingle nucleotide variantCystic fibrosis|ivacaftor response - Efficacy|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Bronchiectasis with or without elevated sweat chloride 1|Hereditary pancreatitis|Cystic fibrosis|CFTR-related disorders|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs121908753Pathogenicsingle nucleotide variantCystic fibrosis|ivacaftor response - Efficacy|Congenital bilateral aplasia of vas deferens from CFTR mutation|Hereditary pancreatitis|Cystic fibrosis|Bronchiectasis with or without elevated sweat chloride 1|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|CFTR-related disorders
  • rs121908754Pathogenicsingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs121908757Pathogenicsingle nucleotide variantCystic fibrosis|ivacaftor response - Efficacy|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders|Hereditary pancreatitis
  • rs121908758Pathogenicsingle nucleotide variantCystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|CFTR-related disorders|Cystic fibrosis|CFTR-related disorders
  • rs121908760Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs121908761Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|CFTR-related disorders|CFTR-related disorders
  • rs121908763Pathogenicsingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs121908764Pathogenicsingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs121908765Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|CFTR-related disorders|CFTR-related disorders
  • rs121908766Pathogenicsingle nucleotide variantCystic fibrosis
  • rs121908770PathogenicDeletionCystic fibrosis|CFTR-related disorders
  • rs121908788PathogenicInsertionCystic fibrosis|CFTR-related disorders
  • rs121908791Pathogenicsingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs121908792Pathogenicsingle nucleotide variantCystic fibrosis|Bronchiectasis with or without elevated sweat chloride 1|Hereditary pancreatitis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs121908793Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs121908794Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs121908797Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs121908802Pathogenicsingle nucleotide variantCystic fibrosis|Bronchiectasis with or without elevated sweat chloride 1|Hereditary pancreatitis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs121908803Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs121908804PathogenicDeletionCystic fibrosis|CFTR-related disorders
  • rs121908805Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Obstructive azoospermia|CFTR-related disorders
  • rs121908810Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs121909005Pathogenicsingle nucleotide variantCystic fibrosis|ivacaftor response - Efficacy|Bronchiectasis with or without elevated sweat chloride 1|Cystic fibrosis|Hereditary pancreatitis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs121909012Pathogenicsingle nucleotide variantCystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|CFTR-related disorders
  • rs121909013Pathogenicsingle nucleotide variantCystic fibrosis|ivacaftor response - Efficacy|CFTR-related disorders|Hereditary pancreatitis
  • rs121909017Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Bronchiectasis with or without elevated sweat chloride 1|Hereditary pancreatitis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation
  • rs121909019Pathogenicsingle nucleotide variantCystic fibrosis|Inborn genetic diseases|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs121909025Pathogenicsingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs121909036Pathogenicsingle nucleotide variantCystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|CFTR-related disorders
  • rs121909041Pathogenicsingle nucleotide variantCystic fibrosis|ivacaftor response - Efficacy|Hereditary pancreatitis
  • rs121909045Pathogenicsingle nucleotide variantCystic fibrosis
  • rs121909047Pathogenicsingle nucleotide variantCystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|CFTR-related disorders
  • rs139304906Pathogenicsingle nucleotide variantCystic fibrosis|Inborn genetic diseases|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs139468767Pathogenicsingle nucleotide variantCystic fibrosis|Inborn genetic diseases|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation
  • rs139573311Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs139729994Pathogenicsingle nucleotide variantCystic fibrosis|Inborn genetic diseases|Cystic fibrosis|CFTR-related disorders|CFTR-related disorders
  • rs141158996Pathogenicsingle nucleotide variantCystic fibrosis|Inborn genetic diseases|CFTR-related disorders
  • rs143570767Pathogenicsingle nucleotide variantCystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|CFTR-related disorders
  • rs149790377Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs151020603Pathogenicsingle nucleotide variantCystic fibrosis
  • rs193922500Pathogenicsingle nucleotide variantCystic fibrosis|Bronchiectasis with or without elevated sweat chloride 1|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Hereditary pancreatitis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|CFTR-related disorders|Congenital bilateral aplasia of vas deferens from CFTR mutation
  • rs193922503Pathogenicsingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs193922520Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation
  • rs193922525Pathogenicsingle nucleotide variantCystic fibrosis|ivacaftor response - Efficacy|CFTR-related disorders|Hereditary pancreatitis
  • rs267606722Pathogenicsingle nucleotide variantCystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|CFTR-related disorders
  • rs36210737Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs368505753Pathogenicsingle nucleotide variantCystic fibrosis|ivacaftor response - Efficacy|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders|Hereditary pancreatitis
  • rs372227120Pathogenicsingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs374705585Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders|Hereditary pancreatitis
  • rs374946172Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs386134230Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs387906359PathogenicMicrosatelliteCystic fibrosis
  • rs397508139Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs397508158Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs397508163PathogenicDuplicationCystic fibrosis|CFTR-related disorders
  • rs397508175Pathogenicsingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs397508183Pathogenicsingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs397508205PathogenicDeletionCystic fibrosis|CFTR-related disorders
  • rs397508256Pathogenicsingle nucleotide variantCystic fibrosis|ivacaftor response - Efficacy|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|CFTR-related disorders
  • rs397508261Pathogenicsingle nucleotide variantCystic fibrosis
  • rs397508303PathogenicDeletionCystic fibrosis|CFTR-related disorders
  • rs397508325PathogenicDeletionCystic fibrosis|CFTR-related disorders
  • rs397508400PathogenicDeletionCystic fibrosis
  • rs397508412Pathogenicsingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs397508431PathogenicDuplicationCystic fibrosis|CFTR-related disorders
  • rs397508476Pathogenicsingle nucleotide variantCystic fibrosis
  • rs397508477PathogenicMicrosatelliteCystic fibrosis|CFTR-related disorders
  • rs397508496Pathogenicsingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs397508499PathogenicDeletionCystic fibrosis|CFTR-related disorders
  • rs397508510Pathogenicsingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs397508645Pathogenicsingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs397508669PathogenicDuplicationCystic fibrosis|CFTR-related disorders
  • rs397508685PathogenicDuplicationCystic fibrosis|CFTR-related disorders
  • rs397508750PathogenicDeletionCystic fibrosis|CFTR-related disorders
  • rs397508782Pathogenicsingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs397508783Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|CFTR-related disorders|CFTR-related disorders
  • rs397508824PathogenicDeletionCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs74467662Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation
  • rs74503330Pathogenicsingle nucleotide variantCystic fibrosis|ivacaftor response - Efficacy|Inborn genetic diseases|CFTR-related disorders
  • rs74767530Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs75039782Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Bronchiectasis with or without elevated sweat chloride 1|Hereditary pancreatitis|Cystic fibrosis|CFTR-related disorders|CFTR-related disorders|Hereditary pancreatitis
  • rs75096551Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Bronchiectasis with or without elevated sweat chloride 1|Hereditary pancreatitis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs75115087Pathogenicsingle nucleotide variantCystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|CFTR-related disorders
  • rs75527207Pathogenicsingle nucleotide variantCystic fibrosis|Hereditary pancreatitis|ivacaftor response - Efficacy|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Bronchiectasis with or without elevated sweat chloride 1|Hereditary pancreatitis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Inborn genetic diseases|CFTR-related disorders
  • rs75549581Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs75961395Pathogenicsingle nucleotide variantCystic fibrosis|Inborn genetic diseases|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs76151804Pathogenicsingle nucleotide variantCystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|CFTR-related disorders|Cystic fibrosis|CFTR-related disorders
  • rs76554633Pathogenicsingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs77010898Pathogenicsingle nucleotide variantCystic fibrosis|Inborn genetic diseases|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Bronchiectasis with or without elevated sweat chloride 1|Hereditary pancreatitis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders|Hereditary pancreatitis
  • rs77101217Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders|Congenital bilateral aplasia of vas deferens from CFTR mutation
  • rs77188391Pathogenicsingle nucleotide variantCystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|CFTR-related disorders
  • rs77284892Pathogenicsingle nucleotide variantCystic fibrosis|Bronchiectasis with or without elevated sweat chloride 1|Cystic fibrosis|Hereditary pancreatitis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs77409459Pathogenicsingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs77834169Pathogenicsingle nucleotide variantCystic fibrosis|Bronchiectasis with or without elevated sweat chloride 1|Hereditary pancreatitis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|CFTR-related disorders|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs77932196Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs78194216Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Hereditary pancreatitis|CFTR-related disorders
  • rs78440224Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs78655421Pathogenicsingle nucleotide variantCongenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|ivacaftor response - Efficacy|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Bronchiectasis with or without elevated sweat chloride 1|Hereditary pancreatitis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders|Inborn genetic diseases|Obstructive azoospermia|Hereditary pancreatitis
  • rs78756941Pathogenicsingle nucleotide variantCystic fibrosis|Bronchiectasis with or without elevated sweat chloride 1|Cystic fibrosis|Hereditary pancreatitis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders|Hereditary pancreatitis
  • rs78802634Pathogenicsingle nucleotide variantCystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Hereditary pancreatitis|Bronchiectasis with or without elevated sweat chloride 1|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|CFTR-related disorders
  • rs79031340Pathogenicsingle nucleotide variantCystic fibrosis|Inborn genetic diseases|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
  • rs79282516Pathogenicsingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation
  • rs79633941Pathogenicsingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs79660178Pathogenicsingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs80034486Pathogenicsingle nucleotide variantCystic fibrosis|Inborn genetic diseases|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders|Hereditary pancreatitis|Spermatogenic failure, Y-linked, 2
  • rs80224560Pathogenicsingle nucleotide variantCystic fibrosis|Bronchiectasis with or without elevated sweat chloride 1|Cystic fibrosis|Hereditary pancreatitis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Inborn genetic diseases|Cystic fibrosis|CFTR-related disorders|CFTR-related disorders|Hereditary pancreatitis
  • rs80282562Pathogenicsingle nucleotide variantCystic fibrosis|ivacaftor response - Efficacy|Bronchiectasis with or without elevated sweat chloride 1|Cystic fibrosis|Hereditary pancreatitis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Inborn genetic diseases|CFTR-related disorders|Hereditary pancreatitis
  • rs121909034Uncertain significancesingle nucleotide variantCystic fibrosis|Inborn genetic diseases|CFTR-related disorders|Hereditary pancreatitis
  • rs138338446Uncertain significancesingle nucleotide variantCystic fibrosis|Inborn genetic diseases|CFTR-related disorders|Hereditary pancreatitis
  • rs138427145Uncertain significancesingle nucleotide variantCystic fibrosis
  • rs142773283Uncertain significancesingle nucleotide variantCystic fibrosis|Inborn genetic diseases
  • rs142864834Uncertain significancesingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs143456784Uncertain significancesingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs145449046Uncertain significancesingle nucleotide variantCystic fibrosis|Hereditary pancreatitis
  • rs145545286Uncertain significancesingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs145900055Uncertain significancesingle nucleotide variantBronchiectasis with or without elevated sweat chloride 1|Congenital bilateral aplasia of vas deferens from CFTR mutation|Hereditary pancreatitis|Cystic fibrosis|Inborn genetic diseases|CFTR-related disorders|Cystic fibrosis|Hereditary pancreatitis
  • rs146521846Uncertain significancesingle nucleotide variantCystic fibrosis
  • rs149279509Uncertain significancesingle nucleotide variantCystic fibrosis|Inborn genetic diseases|CFTR-related disorders
  • rs149810643Uncertain significancesingle nucleotide variantCFTR-related disorders
  • rs150691494Uncertain significancesingle nucleotide variantCystic fibrosis|Inborn genetic diseases|CFTR-related disorders
  • rs1800114Uncertain significancesingle nucleotide variantCystic fibrosis
  • rs180783619Uncertain significancesingle nucleotide variantCFTR-related disorders
  • rs193922506Uncertain significancesingle nucleotide variantCystic fibrosis
  • rs193922516Uncertain significancesingle nucleotide variantInborn genetic diseases|Cystic fibrosis|CFTR-related disorders
  • rs193922518Uncertain significancesingle nucleotide variantCystic fibrosis|Inborn genetic diseases|CFTR-related disorders
  • rs193922533Uncertain significancesingle nucleotide variantCFTR-related disorders|Cystic fibrosis
  • rs200337193Uncertain significancesingle nucleotide variantCystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Inborn genetic diseases|Cystic fibrosis|CFTR-related disorders
  • rs201016820Uncertain significancesingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs201759207Uncertain significancesingle nucleotide variantCystic fibrosis|Inborn genetic diseases|CFTR-related disorders
  • rs367850319Uncertain significancesingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs368393738Uncertain significancesingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs377447726Uncertain significancesingle nucleotide variantCystic fibrosis|CFTR-related disorders
  • rs143218779Not classifiedsingle nucleotide variantCystic fibrosis
  • rs267606723Not classifiedsingle nucleotide variantCystic fibrosis

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.