CFTR (CF transmembrane conductance regulator) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: CFTR (CF transmembrane conductance regulator) Homo sapiens
Analyze
Symbol: CFTR
Name: CF transmembrane conductance regulator
RGD ID: 619566
HGNC Page HGNC:1884
Description: Enables several functions, including 14-3-3 protein binding activity; ATP hydrolysis activity; and PDZ domain binding activity. Involved in several processes, including bicarbonate transport; cellular response to forskolin; and positive regulation of transport. Located in several cellular components, including apical plasma membrane; endoplasmic reticulum membrane; and endosome. Part of protein-containing complex. Implicated in several diseases, including alcoholic pancreatitis; allergic bronchopulmonary aspergillosis; bronchial disease (multiple); congenital bilateral absence of vas deferens (multiple); and lung disease (multiple). Biomarker of Alzheimer's disease; cholelithiasis; cystic fibrosis; prostatic hypertrophy; and salpingitis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ABC35; ABCC7; ATP-binding cassette sub-family C member 7; ATP-binding cassette transporter sub-family C member 7; cAMP-dependent chloride channel; CF; CFTR/MRP; channel conductance-controlling ATPase; cystic fibrosis transmembrane conductance regulating; cystic fibrosis transmembrane conductance regulator; cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7); cystic fibrosis transmembrane conductance regulator, atp-binding cassette (sub-family c, member 7); dJ760C5.1; MRP7; TNR-CFTR
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: CFTRP1   CFTRP2   CFTRP3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387117,480,025 - 117,668,665 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7117,287,120 - 117,715,971 (+)EnsemblGRCh38hg38GRCh38
GRCh377117,120,079 - 117,308,719 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367116,907,253 - 117,095,955 (+)NCBINCBI36Build 36hg18NCBI36
Build 347116,713,967 - 116,902,666NCBI
Celera7111,928,196 - 112,116,895 (+)NCBICelera
Cytogenetic Map7q31.2NCBI
HuRef7111,485,640 - 111,674,189 (+)NCBIHuRef
CHM1_17117,053,369 - 117,242,163 (+)NCBICHM1_1
T2T-CHM13v2.07118,795,361 - 118,984,026 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27116,515,451 - 116,704,154 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
alcoholic pancreatitis  (IAGP)
allergic bronchopulmonary aspergillosis  (IAGP)
Alzheimer's disease  (IEP)
aspergillosis  (ISO)
asthma  (IAGP)
autism spectrum disorder  (EXP)
autosomal recessive congenital bilateral absence of vas deferens  (IAGP)
autosomal recessive polycystic kidney disease  (EXP,ISO)
azoospermia  (EXP,IAGP)
Breast Neoplasms  (IAGP)
bronchiectasis  (IAGP)
bronchiectasis 1  (EXP,IAGP)
choledochal cyst  (EXP)
cholelithiasis  (IEP)
cholestasis  (ISO)
Chronic Bronchitis  (IAGP)
chronic obstructive pulmonary disease  (IAGP)
Chronic Pancreatitis  (EXP,IAGP)
Colorectal Neoplasms  (EXP)
congenital bilateral absence of vas deferens  (EXP,IAGP,ISO)
cryptorchidism  (ISO)
cystic fibrosis  (EXP,IAGP,IEP,IMP,ISO,ISS)
dental enamel hypoplasia  (ISO)
Diaphragmatic Hernia  (EXP)
duodenal atresia  (IAGP)
duodenal ulcer  (ISO)
exocrine pancreatic insufficiency  (IAGP)
Experimental Diabetes Mellitus  (ISO)
gastric ulcer  (ISO)
genetic disease  (IAGP)
Hereditary Pancreatitis  (EXP,IAGP)
Hypertriglyceridemia  (IAGP)
infertility  (IAGP)
influenza  (ISO)
Liver Injury  (IMP)
lung cancer  (IAGP)
lung disease  (IAGP)
Lynch syndrome  (IAGP)
male infertility  (EXP,IAGP)
megacolon  (IAGP)
Metabolic Bone Diseases  (ISO)
multiple acyl-CoA dehydrogenase deficiency  (IAGP)
myocardial infarction  (ISO)
Nontuberculous Mycobacterium Infections  (IAGP)
Nuchal Bleb, Familial  (IAGP)
pancreatic cancer  (IAGP)
pancreatitis  (EXP,IAGP)
pleomorphic xanthoastrocytoma  (IAGP)
primary sclerosing cholangitis  (IAGP)
prostatic hypertrophy  (IEP)
Pseudomonas Infections  (ISO)
pulmonary sarcoidosis  (IAGP)
renal agenesis  (EXP)
renal cell carcinoma  (IAGP)
Renal Cell Carcinoma 1  (IAGP)
respiratory syncytial virus infectious disease  (ISO)
rhinitis  (EXP)
salpingitis  (IEP,ISO)
schizophrenia  (IAGP)
sinusitis  (EXP,IAGP)
Staphylococcal Pneumonia  (ISO)
substance-related disorder  (EXP)
tracheal disease  (ISO)
typhoid fever  (IAGP)
Y-linked spermatogenic failure 2  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R,R,R)-alpha-tocopherol  (EXP)
(S)-naringenin  (EXP)
1,1'-azobis(N,N-dimethylformamide)  (EXP)
1,10-phenanthroline  (EXP)
1,2-dichloroethane  (ISO)
1,4-dithiothreitol  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3',5'-cyclic AMP  (EXP,ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
4,4'-diisothiocyano-trans-stilbene-2,2'-disulfonic acid  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-phenylbutyric acid  (EXP)
5,6-dichloro-1-beta-D-ribofuranosyl-1H-benzimidazole  (EXP)
5,6-dichlorobenzimidazole riboside  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
5-Nitro-2-(3-phenylpropylamino)benzoic acid  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
8-(4-chlorophenylthio)-cAMP  (EXP)
9-anthroic acid  (EXP)
acetamide  (ISO)
acivicin  (EXP)
adenosine  (EXP)
ADP  (EXP)
aflatoxin B1  (ISO)
AICA ribonucleotide  (ISO)
all-trans-retinoic acid  (ISO)
allethrin  (ISO)
amiloride  (ISO)
aminoguanidine  (EXP)
ammonium chloride  (ISO)
AMP-PNP  (EXP)
apigenin  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
ATP  (EXP)
atrazine  (ISO)
Azoxymethane  (ISO)
baclofen  (EXP)
baicalein  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
brefeldin A  (EXP)
brimonidine tartrate  (ISO)
bumetanide  (EXP)
cadmium atom  (EXP,ISO)
capsaicin  (ISO)
carbon nanotube  (EXP)
CGP 12177  (EXP)
chelerythrine  (EXP)
chlorothalonil  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
cilostazol  (EXP)
clobetasol  (ISO)
clofibrate  (ISO)
clonidine  (ISO)
clonidine (amino form)  (ISO)
clonidine (imino form)  (ISO)
colforsin daropate hydrochloride  (EXP,ISO)
Cuprizon  (ISO)
curcumin  (EXP,ISO)
cycloheximide  (ISO)
cyclosporin A  (EXP)
cyhalothrin  (ISO)
cypermethrin  (ISO)
DDT  (EXP)
decan-1-ol  (EXP)
desmopressin  (EXP)
dextran sulfate  (ISO)
dibromine  (EXP)
dichlorine  (EXP,ISO)
diethylstilbestrol  (ISO)
diprotium oxide  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
enilconazole  (ISO)
ethanol  (ISO)
fenamic acid  (EXP,ISO)
fenvalerate  (ISO)
flufenamic acid  (EXP)
folic acid  (ISO)
fulvestrant  (EXP)
furan  (ISO)
geldanamycin  (EXP)
gemfibrozil  (ISO)
geneticin  (EXP)
genistein  (EXP,ISO)
gentamycin  (EXP,ISO)
glufosinate  (ISO)
glutathione  (EXP,ISO)
glutathione disulfide  (EXP)
glyburide  (EXP,ISO)
glycidol  (ISO)
Guanylin  (ISO)
gusperimus  (EXP)
heptan-1-ol  (EXP)
hyaluronic acid  (EXP)
hydrogen peroxide  (EXP)
hydrogencarbonate  (EXP,ISO)
inulin  (ISO)
iodide salt  (EXP)
ionomycin  (ISO)
irinotecan  (ISO)
iron(III) citrate  (EXP)
isoprenaline  (EXP,ISO)
isotocin  (EXP)
ivacaftor  (EXP)
kaempferol  (EXP)
L-1,4-dithiothreitol  (EXP)
L-ascorbic acid  (EXP)
L-methionine  (ISO)
lithium chloride  (EXP)
lonidamine  (EXP,ISO)
lumacaftor  (EXP)
LY294002  (EXP)
manganese(II) chloride  (ISO)
medetomidine  (ISO)
mercury dibromide  (EXP)
methacholine chloride  (EXP)
miglustat  (EXP)
milrinone  (EXP)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP,ISO)
N-acetyl-L-cysteine  (EXP)
N-Acetylleucyl-leucyl-methioninal  (EXP)
N-acetylsphingosine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-ethylmaleimide  (EXP)
naphthalene  (ISO)
naringin  (ISO)
nickel atom  (EXP)
Niflumic acid  (EXP)
nimodipine  (EXP,ISO)
nitrates  (EXP)
nitric oxide  (ISO)
nocodazole  (EXP,ISO)
octan-1-ol  (EXP)
octan-2-ol  (EXP)
okadaic acid  (EXP)
omeprazole  (ISO)
osimertinib  (EXP)
ozone  (EXP,ISO)
P(1),P(5)-bis(5'-adenosyl) pentaphosphate  (EXP)
p-chloromercuribenzoic acid  (EXP)
PAPA NONOate  (EXP)
papaverine  (EXP)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
phloretin  (ISO)
phosphoramide mustard  (ISO)
primaquine  (ISO)
procymidone  (ISO)
progesterone  (EXP,ISO)
prothioconazole  (ISO)
pyrethrins  (ISO)
quercetin  (EXP,ISO)
resveratrol  (EXP,ISO)
roflumilast  (EXP,ISO)
rolipram  (EXP)
S-nitrosoglutathione  (EXP)
Salmeterol xinafoate  (EXP)
SB 431542  (EXP)
serotonin  (EXP)
sildenafil citrate  (EXP)
silicon dioxide  (EXP,ISO)
simvastatin  (ISO)
sodium arsenite  (EXP)
sodium atom  (EXP)
sodium iodide  (EXP)
sulforaphane  (ISO)
tamoxifen  (ISO)
taurocholic acid  (ISO)
taurolithocholic acid sulfate  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetramethylpyrazine  (EXP,ISO)
thapsigargin  (EXP)
thiocyanate  (EXP)
thiourea  (ISO)
titanium dioxide  (ISO)
tremolite asbestos  (ISO)
tributylstannane  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
triptonide  (ISO)
valproic acid  (EXP,ISO)
vasopressin  (ISO)
vasotocin  (EXP)
water  (ISO)
wortmannin  (EXP)
xanthohumol  (EXP)
zinc atom  (EXP,ISO)
zinc dichloride  (EXP)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
amelogenesis  (IEA,ISS)
bicarbonate transport  (IBA,IDA,ISO)
biological_process  (ND)
cellular response to anoxia  (ISO)
cellular response to cAMP  (IEA,ISS)
cellular response to forskolin  (IDA)
cellular response to heat  (ISO)
cellular response to hormone stimulus  (ISO)
chloride transmembrane transport  (IBA,IDA,IEA,IMP,ISS)
chloride transport  (IEA,ISO)
cholesterol biosynthetic process  (IEA)
cholesterol transport  (IEA)
enamel mineralization  (ISO)
establishment of localization in cell  (IEA)
intracellular pH elevation  (IEA,ISS)
liver regeneration  (ISO)
lung development  (ISO)
membrane hyperpolarization  (IEA,ISS)
monoatomic ion transmembrane transport  (IEA)
monoatomic ion transport  (IEA)
multicellular organismal-level water homeostasis  (IMP)
negative regulation of type B pancreatic cell development  (ISO)
negative regulation of vascular associated smooth muscle cell apoptotic process  (ISO)
positive regulation of cyclic nucleotide-gated ion channel activity  (IMP)
positive regulation of enamel mineralization  (IEA,ISS)
positive regulation of establishment of Sertoli cell barrier  (ISO)
positive regulation of exocytosis  (IEA,IMP)
positive regulation of insulin secretion involved in cellular response to glucose stimulus  (IEA,IGI,IMP)
positive regulation of mast cell activation  (ISO)
positive regulation of voltage-gated chloride channel activity  (IDA)
regulation of membrane depolarization  (ISO)
response to cytokine  (ISO)
response to endoplasmic reticulum stress  (IDA)
response to estrogen  (ISO)
response to peptide hormone  (ISO)
response to xenobiotic stimulus  (ISO)
sodium ion transmembrane transport  (ISO)
sperm capacitation  (IEA,ISS)
transepithelial chloride transport  (ISO)
transepithelial water transport  (IMP)
transmembrane transport  (IEA,TAS)
vasodilation  (ISO)
vesicle docking involved in exocytosis  (IEA)
water transport  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal biliary tract morphology  (IAGP)
Abnormal circulating enzyme concentration or activity  (IAGP)
Abnormal phalangeal joint morphology of the hand  (IAGP)
Abnormal renal morphology  (IAGP)
Abnormal respiratory system physiology  (IAGP)
Abnormal spermatogenesis  (IAGP)
Abnormal thrombosis  (IAGP)
Abnormality of exocrine pancreas physiology  (IAGP)
Abnormality of the liver  (IAGP)
Abnormality of the nose  (IAGP)
Abnormality of the pancreas  (IAGP)
Absent vas deferens  (IAGP)
Acute infectious pneumonia  (IAGP)
Airway obstruction  (IAGP)
Anxiety  (IAGP)
Asthma  (IAGP)
Atopic dermatitis  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Azoospermia  (IAGP)
Biliary cirrhosis  (IAGP)
Bronchiectasis  (IAGP)
Cachexia  (IAGP)
Chest pain  (IAGP)
Childhood onset  (IAGP)
Chronic bronchitis  (IAGP)
Chronic lung disease  (IAGP)
Chronic pancreatitis  (IAGP)
Chronic sinusitis  (IAGP)
Cirrhosis  (IAGP)
Clubbing  (IAGP)
Clubbing of fingers  (IAGP)
Cor pulmonale  (IAGP)
Crackles  (IAGP)
Decreased body mass index  (IAGP)
Decreased forced expiratory flow 25-75%  (IAGP)
Decreased testicular size  (IAGP)
Dehydration  (IAGP)
Delayed speech and language development  (IAGP)
Depression  (IAGP)
Diabetes mellitus  (IAGP)
Diarrhea  (IAGP)
Duodenal stenosis  (IAGP)
Dyspnea  (IAGP)
Edema  (IAGP)
Elevated circulating C-reactive protein concentration  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Elevated sweat chloride  (IAGP)
Emphysema  (IAGP)
Excessive skin wrinkling on dorsum of hands and fingers  (IAGP)
Exocrine pancreatic insufficiency  (IAGP)
Failure to thrive  (IAGP)
Fetal cystic hygroma  (IAGP)
Fever  (IAGP)
Gastroesophageal reflux  (IAGP)
Halitosis  (IAGP)
Hearing impairment  (IAGP)
Hemoptysis  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
Hypercalciuria  (IAGP)
Hyperpolarized transepithelial nasal potential difference  (IAGP)
Ileus  (IAGP)
Increased circulating gonadotropin level  (IAGP)
Infantile onset  (IAGP)
Infertility  (IAGP)
Jaundice  (IAGP)
Leukocytosis  (IAGP)
Malabsorption  (IAGP)
Male infertility  (IAGP)
Meconium ileus  (IAGP)
Megacolon  (IAGP)
Myocardial infarction  (IAGP)
Nasal polyposis  (IAGP)
Neoplasm of the breast  (IAGP)
Nephrolithiasis  (IAGP)
Non-obstructive azoospermia  (IAGP)
Nontuberculous mycobacterial pulmonary infection  (IAGP)
Obstructive azoospermia  (IAGP)
Oligozoospermia  (IAGP)
Orthokeratotic hyperkeratosis  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Palmar pruritus  (IAGP)
Palmoplantar hyperhidrosis  (IAGP)
Palmoplantar keratoderma  (IAGP)
Pancreatic calcification  (IAGP)
Pancreatic pseudocyst  (IAGP)
Pancreatitis  (IAGP)
Papillary renal cell carcinoma type 1  (IAGP)
Phenotypic abnormality  (IAGP)
Pleomorphic xanthoastrocytoma  (IAGP)
Pleural effusion  (IAGP)
Pneumothorax  (IAGP)
Productive cough  (IAGP)
Rectal prolapse  (IAGP)
Recurrent Aspergillus infections  (IAGP)
Recurrent bronchopulmonary infections  (IAGP)
Recurrent Burkholderia cepacia infections  (IAGP)
Recurrent Haemophilus influenzae infections  (IAGP)
Recurrent lower respiratory tract infections  (IAGP)
Recurrent pancreatitis  (IAGP)
Recurrent pneumonia  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent sinopulmonary infections  (IAGP)
Recurrent Staphylococcus aureus infections  (IAGP)
Reduced FEV1/FVC ratio  (IAGP)
Reduced forced expiratory volume in one second  (IAGP)
Reduced forced vital capacity  (IAGP)
Renal cell carcinoma  (IAGP)
Respiratory tract infection  (IAGP)
Salty tasting skin  (IAGP)
Schizophrenia  (IAGP)
Sinusitis  (IAGP)
Skin plaque  (IAGP)
Splanchnic vein thrombosis  (IAGP)
Steatorrhea  (IAGP)
Systemic lupus erythematosus  (IAGP)
Unilateral renal agenesis  (IAGP)
Wheezing  (IAGP)
White papule  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Heterozygosity for the F508del mutation in the cystic fibrosis transmembrane conductance regulator anion channel attenuates influenza severity. Aeffner F, etal., J Infect Dis. 2013 Sep 1;208(5):780-9. doi: 10.1093/infdis/jit251. Epub 2013 Jun 7.
2. Involvement of cystic fibrosis transmembrane conductance regulator (CFTR) in the pathogenesis of hydrosalpinx induced by Chlamydia trachomatis infection. Ajonuma LC, etal., J Obstet Gynaecol Res. 2008 Dec;34(6):923-30. doi: 10.1111/j.1447-0756.2008.00826.x.
3. A novel small molecule CFTR inhibitor attenuates HCO3- secretion and duodenal ulcer formation in rats. Akiba Y, etal., Am J Physiol Gastrointest Liver Physiol. 2005 Oct;289(4):G753-9. Epub 2005 May 19.
4. Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study. Amaral MD, etal., J Med Genet. 2001 Nov;38(11):777-83.
5. Quantification of CFTR splice variants in adults with disseminated bronchiectasis, using the TaqMan fluorogenic detection system. Andrieux J, etal., Clin Genet. 2002 Jul;62(1):60-7.
6. Hepatic cystogenesis is associated with abnormal expression and location of ion transporters and water channels in an animal model of autosomal recessive polycystic kidney disease. Banales JM, etal., Am J Pathol. 2008 Dec;173(6):1637-46. Epub 2008 Nov 6.
7. Congenital tracheal malformation in cystic fibrosis transmembrane conductance regulator-deficient mice. Bonvin E, etal., J Physiol. 2008 Jul 1;586(13):3231-43. Epub 2008 May 1.
8. Non-classic cystic fibrosis associated with D1152H CFTR mutation. Burgel PR, etal., Clin Genet. 2010 Apr;77(4):355-64. Epub 2009 Oct 15.
9. High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes. Casals T, etal., Hum Genet. 1997 Dec;101(3):365-70.
10. Association of cystic fibrosis transmembrane conductance regulator (CFTR) mutation/variant/haplotype and tumor necrosis factor (TNF) promoter polymorphism in hyperlipidemic pancreatitis. Chang YT, etal., Clin Chem. 2008 Jan;54(1):131-8. Epub 2007 Nov 2.
11. Cystic fibrosis transmembrane conductance regulator regulates epithelial cell response to Aspergillus and resultant pulmonary inflammation. Chaudhary N, etal., Am J Respir Crit Care Med. 2012 Feb 1;185(3):301-10. doi: 10.1164/rccm.201106-1027OC. Epub 2011 Dec 1.
12. Cryptorchidism-induced CFTR down-regulation results in disruption of testicular tight junctions through up-regulation of NF-kappaB/COX-2/PGE2. Chen J, etal., Hum Reprod. 2012 Sep;27(9):2585-97. doi: 10.1093/humrep/des254. Epub 2012 Jul 9.
13. Cystic fibrosis genotype and assessing rates of decline in pulmonary status. Cleveland RH, etal., Radiology. 2009 Dec;253(3):813-21.
14. Familial clustering of pulmonary nontuberculous mycobacterial disease. Colombo RE, etal., Chest. 2010 Mar;137(3):629-34. Epub 2009 Oct 26.
15. A truncated CFTR protein rescues endogenous DeltaF508-CFTR and corrects chloride transport in mice. Cormet-Boyaka E, etal., FASEB J. 2009 Nov;23(11):3743-51. Epub 2009 Jul 20.
16. Genetic and biochemical markers of obstructive lung disease in the general population. Dahl M Clin Respir J. 2009 Apr;3(2):121-2.
17. Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling. Daudin M, etal., Fertil Steril. 2000 Dec;74(6):1164-74.
18. Role for cystic fibrosis transmembrane conductance regulator protein in a glutathione response to bronchopulmonary pseudomonas infection. Day BJ, etal., Infect Immun. 2004 Apr;72(4):2045-51. doi: 10.1128/iai.72.4.2045-2051.2004.
19. Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. Dean M, etal., Cell. 1990 Jun 1;61(5):863-70.
20. The severe G480C cystic fibrosis mutation, when replicated in the mouse, demonstrates mistrafficking, normal survival and organ-specific bioelectrics. Dickinson P, etal., Hum Mol Genet 2002 Feb 1;11(3):243-51.
21. High frequency of the R75Q CFTR variation in patients with chronic obstructive pulmonary disease. Divac A, etal., J Cyst Fibros. 2004 Aug;3(3):189-91.
22. A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients. Dork T, etal., Hum Genet. 1992 Nov;90(3):279-84.
23. Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Dork T, etal., Hum Genet. 1997 Sep;100(3-4):365-77.
24. Characterization of two rat models of cystic fibrosis-KO and F508del CFTR-Generated by Crispr-Cas9. Dreano E, etal., Animal Model Exp Med. 2019 Nov 25;2(4):297-311. doi: 10.1002/ame2.12091. eCollection 2019 Dec.
25. Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis. el-Harith EA, etal., J Med Genet. 1997 Dec;34(12):996-9.
26. A cystic fibrosis mutation associated with mild lung disease. Gan KH, etal., N Engl J Med. 1995 Jul 13;333(2):95-9.
27. Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease. Gasparini P, etal., J Med Genet. 1992 Aug;29(8):558-62.
28. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
29. Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus. Hamosh A, etal., Am J Hum Genet. 1992 Aug;51(2):245-50.
30. A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype. Hergersberg M, etal., Hum Genet. 1997 Aug;100(2):220-3.
31. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. Highsmith WE, etal., N Engl J Med. 1994 Oct 13;331(15):974-80.
32. Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis. Jang MA, etal., J Hum Genet. 2013 May;58(5):298-303. doi: 10.1038/jhg.2013.19. Epub 2013 Mar 21.
33. A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator. Kalin N, etal., Hum Mutat. 1992;1(3):204-10.
34. Cystic fibrosis transmembrane conductance regulators (CFTR) in biliary epithelium of patients with hepatolithiasis. Kim HJ, etal., Dig Dis Sci. 2002 Aug;47(8):1758-65. doi: 10.1023/a:1016488327019.
35. Pulmonary nontuberculous mycobacterial disease: prospective study of a distinct preexisting syndrome. Kim RD, etal., Am J Respir Crit Care Med. 2008 Nov 15;178(10):1066-74. Epub 2008 Aug 14.
36. Mutation analysis of the CFTR gene in Slovak cystic fibrosis patients by DHPLC and subsequent sequencing: identification of four novel mutations. Kolesar P, etal., Gen Physiol Biophys. 2008 Dec;27(4):299-305.
37. Functional characteristics of L1156F-CFTR associated with alcoholic chronic pancreatitis in Japanese. Kondo S, etal., Am J Physiol Gastrointest Liver Physiol. 2015 Aug 15;309(4):G260-9. doi: 10.1152/ajpgi.00015.2014. Epub 2015 Jun 18.
38. Detection of CFTR gene mutations in patients suffering from chronic bronchitis. Kostuch M, etal., Arch Med Res. 2000 Jan-Feb;31(1):97-100.
39. Reduced expression of the cystic fibrosis transmembrane conductance regulator gene in the hypothalamus of patients with Alzheimer's disease. Lahousse SA, etal., J Alzheimers Dis. 2003 Dec;5(6):455-62.
40. Staphylococcus aureus Survives in Cystic Fibrosis Macrophages, Forming a Reservoir for Chronic Pneumonia. Li C, etal., Infect Immun. 2017 Apr 21;85(5). pii: IAI.00883-16. doi: 10.1128/IAI.00883-16. Print 2017 May.
41. Cystic fibrosis transmembrane conductance regulator gene mutation and lung cancer risk. Li Y, etal., Lung Cancer. 2010 Oct;70(1):14-21. doi: 10.1016/j.lungcan.2010.01.005. Epub 2010 Feb 8.
42. Cystic fibrosis conductance regulator, tumor necrosis factor, interferon alpha-10, interferon alpha-17, and interferon gamma genotyping as potential risk markers in pulmonary sarcoidosis pathogenesis in greek patients. Makrythanasis P, etal., Genet Test Mol Biomarkers. 2010 Aug;14(4):577-84.
43. Frequency of cystic fibrosis transmembrane conductance regulator gene mutations and 5T allele in patients with allergic bronchopulmonary aspergillosis. Marchand E, etal., Chest. 2001 Mar;119(3):762-7.
44. Evolution of CFTR protein distribution in lung tissue from normal and CF human fetuses. Marcorelles P, etal., Pediatr Pulmonol. 2007 Nov;42(11):1032-40.
45. CFTR genotype as a predictor of prognosis in cystic fibrosis. McKone EF, etal., Chest. 2006 Nov;130(5):1441-7.
46. G551D CF mice display an abnormal host response and have impaired clearance of Pseudomonas lung disease. McMorran BJ, etal., Am J Physiol Lung Cell Mol Physiol. 2001 Sep;281(3):L740-7.
47. Cystic fibrosis transmembrane regulator gene carrier status is a risk factor for young onset pancreatic adenocarcinoma. McWilliams R, etal., Gut. 2005 Nov;54(11):1661-2.
48. Loss of CFTR Function Produces Abnormalities in Tracheal Development in Neonatal Pigs and Young Children. Meyerholz DK, etal., Am J Respir Crit Care Med. 2010 Jul 9.
49. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Asians with chronic pulmonary disease: a pilot study. Ngiam NS, etal., J Cyst Fibros. 2006 Aug;5(3):159-64. Epub 2006 Mar 6.
50. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
51. Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene. Osborne L, etal., Hum Genet. 1992 Aug;89(6):653-8.
52. Osteopenia in Cftr-deltaF508 mice. Paradis J, etal., J Cyst Fibros. 2010 Jul;9(4):239-45. doi: 10.1016/j.jcf.2010.05.001. Epub 2010 May 31.
53. Lack of association between UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms and pancreatic cancer in Italian patients. Piepoli A, etal., World J Gastroenterol. 2006 Oct 21;12(39):6343-8.
54. Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis. Pignatti PF, etal., Hum Mol Genet. 1995 Apr;4(4):635-9.
55. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
56. Increased prevalence of mutations in the cystic fibrosis transmembrane conductance regulator in children with chronic rhinosinusitis. Raman V, etal., Pediatrics. 2002 Jan;109(1):E13.
57. Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens. Ravnik-Glavac M, etal., Pflugers Arch. 2000;439(3 Suppl):R53-5.
58. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
59. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
60. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
61. Transgenic cystic fibrosis mice exhibit reduced early clearance of Pseudomonas aeruginosa from the respiratory tract. Schroeder TH, etal., J Immunol. 2001 Jun 15;166(12):7410-8. doi: 10.4049/jimmunol.166.12.7410.
62. Increased expression of cystic fibrosis transmembrane conductance regulator in rat liver after common bile duct ligation. Shen H, etal., J Cell Physiol. 2005 Jun;203(3):599-603.
63. Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis. Sheth S, etal., Hum Genet. 2003 Aug;113(3):286-92. doi: 10.1007/s00439-003-0963-z. Epub 2003 Jun 3.
64. Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Shoshani T, etal., Am J Hum Genet. 1992 Jan;50(1):222-8.
65. An animal model for cystic fibrosis made by gene targeting. Snouwaert JN, etal., Science. 1992 Aug 21;257(5073):1083-8.
66. Cystic fibrosis transmembrane conductance regulator deficiency exacerbates islet cell dysfunction after beta-cell injury. Stalvey MS, etal., Diabetes. 2006 Jul;55(7):1939-45.
67. The CFTR M470V gene variant as a potential modifier of COPD severity: study of Serbian population. Stankovic M, etal., Genet Test. 2008 Sep;12(3):357-62.
68. Genomewide association analysis of respiratory syncytial virus infection in mice. Stark JM, etal., J Virol. 2010 Mar;84(5):2257-69. Epub 2009 Dec 16.
69. The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening. Thauvin-Robinet C, etal., J Med Genet. 2009 Nov;46(11):752-8. Epub 2009 Jun 29.
70. Characterization of defects in ion transport and tissue development in cystic fibrosis transmembrane conductance regulator (CFTR)-knockout rats. Tuggle KL, etal., PLoS One. 2014 Mar 7;9(3):e91253. doi: 10.1371/journal.pone.0091253. eCollection 2014.
71. Protective role of cardiac CFTR activation upon early reperfusion against myocardial infarction. Uramoto H, etal., Cell Physiol Biochem. 2012;30(4):1023-38. doi: 10.1159/000341479. Epub 2012 Sep 20.
72. Ischemia-induced enhancement of CFTR expression on the plasma membrane in neonatal rat ventricular myocytes. Uramoto H, etal., Jpn J Physiol. 2003 Oct;53(5):357-65.
73. Susceptibility to typhoid fever is associated with a polymorphism in the cystic fibrosis transmembrane conductance regulator (CFTR). van de Vosse E, etal., Hum Genet. 2005 Oct;118(1):138-40. doi: 10.1007/s00439-005-0005-0. Epub 2005 Oct 28.
74. Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation. Varon R, etal., Hum Mutat. 1995;6(3):219-25.
75. Increased prevalence of chronic rhinosinusitis in carriers of a cystic fibrosis mutation. Wang X, etal., Arch Otolaryngol Head Neck Surg. 2005 Mar;131(3):237-40.
76. [Effects of weile powder on bicarbonate transporters CFTR SLC26A3 and SLC26A6 in gastric ulcers of rats]. Wen GR, etal., Zhongguo Zhong Xi Yi Jie He Za Zhi. 2013 Jan;33(1):81-4.
77. Down-regulated CFTR During Aging Contributes to Benign Prostatic Hyperplasia. Xie C, etal., J Cell Physiol. 2015 Aug;230(8):1906-15. doi: 10.1002/jcp.24921.
78. Homocysteine activates autophagy by inhibition of CFTR expression via interaction between DNA methylation and H3K27me3 in mouse liver. Yang A, etal., Cell Death Dis. 2018 Feb 7;9(2):169. doi: 10.1038/s41419-017-0216-z.
79. A mouse model for the delta F508 allele of cystic fibrosis. Zeiher BG, etal., J Clin Invest. 1995 Oct;96(4):2051-64.
Additional References at PubMed
PMID:1284466   PMID:1284468   PMID:1284529   PMID:1284530   PMID:1284534   PMID:1377674   PMID:1378801   PMID:1553237   PMID:1695717   PMID:1709163   PMID:1710598   PMID:1710599  
PMID:1710600   PMID:1719769   PMID:2218515   PMID:2236053   PMID:2475911   PMID:2772657   PMID:7504969   PMID:7505694   PMID:7513296   PMID:7513695   PMID:7517264   PMID:7518437  
PMID:7520022   PMID:7522211   PMID:7524909   PMID:7524910   PMID:7524913   PMID:7525450   PMID:7529962   PMID:7537150   PMID:7539342   PMID:7541273   PMID:7541313   PMID:7541510  
PMID:7543567   PMID:7544319   PMID:7553864   PMID:7581390   PMID:7581407   PMID:7678008   PMID:7680525   PMID:7683628   PMID:7683954   PMID:7684642   PMID:7689062   PMID:7693108  
PMID:8072542   PMID:8081395   PMID:8522333   PMID:8723693   PMID:8723695   PMID:8744024   PMID:8764323   PMID:8800923   PMID:8829633   PMID:8910473   PMID:8956039   PMID:9067761  
PMID:9101301   PMID:9222768   PMID:9375855   PMID:9384384   PMID:9385646   PMID:9401006   PMID:9443874   PMID:9466991   PMID:9482579   PMID:9511929   PMID:9517543   PMID:9521595  
PMID:9554753   PMID:9590693   PMID:9613608   PMID:9671706   PMID:9677412   PMID:9736778   PMID:9792704   PMID:9875854   PMID:9921909   PMID:9931011   PMID:10075921   PMID:10094564  
PMID:10200050   PMID:10561583   PMID:10581360   PMID:10651488   PMID:10666020   PMID:10766763   PMID:10799517   PMID:10852925   PMID:10862786   PMID:10893422   PMID:10982807   PMID:11025834  
PMID:11051556   PMID:11095651   PMID:11104661   PMID:11109941   PMID:11115825   PMID:11117575   PMID:11134427   PMID:11146634   PMID:11158634   PMID:11168024   PMID:11175304   PMID:11186891  
PMID:11304524   PMID:11333866   PMID:11354633   PMID:11356077   PMID:11379874   PMID:11397675   PMID:11400707   PMID:11462247   PMID:11462248   PMID:11524016   PMID:11529289   PMID:11536079  
PMID:11569691   PMID:11574497   PMID:11597137   PMID:11667976   PMID:11680956   PMID:11683083   PMID:11686989   PMID:11688981   PMID:11707463   PMID:11713441   PMID:11713719   PMID:11715005  
PMID:11748227   PMID:11756355   PMID:11788089   PMID:11788090   PMID:11788091   PMID:11796434   PMID:11799116   PMID:11802245   PMID:11813900   PMID:11845294   PMID:11845300   PMID:11845302  
PMID:11845308   PMID:11845310   PMID:11845311   PMID:11845316   PMID:11856314   PMID:11867445   PMID:11872746   PMID:11882786   PMID:11883825   PMID:11897640   PMID:11897641   PMID:11908853  
PMID:11933191   PMID:11936773   PMID:11940532   PMID:11950844   PMID:11956211   PMID:11984593   PMID:12009340   PMID:12014388   PMID:12023951   PMID:12039948   PMID:12054472   PMID:12059073  
PMID:12068629   PMID:12069690   PMID:12070134   PMID:12073281   PMID:12080183   PMID:12084577   PMID:12084728   PMID:12095312   PMID:12110684   PMID:12120220   PMID:12120233   PMID:12120234  
PMID:12127423   PMID:12133923   PMID:12139895   PMID:12143267   PMID:12149408   PMID:12151438   PMID:12167682   PMID:12172395   PMID:12181169   PMID:12208510   PMID:12209004   PMID:12218938  
PMID:12220181   PMID:12226741   PMID:12227654   PMID:12297838   PMID:12355171   PMID:12357328   PMID:12369822   PMID:12394343   PMID:12397014   PMID:12403779   PMID:12409301   PMID:12409506  
PMID:12414835   PMID:12427743   PMID:12437773   PMID:12439892   PMID:12446681   PMID:12447862   PMID:12452372   PMID:12454843   PMID:12457238   PMID:12471024   PMID:12477932   PMID:12483292  
PMID:12485421   PMID:12503104   PMID:12509457   PMID:12519745   PMID:12523935   PMID:12529365   PMID:12548396   PMID:12563062   PMID:12615054   PMID:12621035   PMID:12624947   PMID:12630958  
PMID:12651871   PMID:12660625   PMID:12661515   PMID:12679371   PMID:12679372   PMID:12689922   PMID:12690205   PMID:12721956   PMID:12723646   PMID:12732620   PMID:12745925   PMID:12759680  
PMID:12767731   PMID:12768409   PMID:12772217   PMID:12779072   PMID:12782133   PMID:12792424   PMID:12794695   PMID:12801959   PMID:12802335   PMID:12815607   PMID:12820662   PMID:12820707  
PMID:12825076   PMID:12833400   PMID:12833419   PMID:12833420   PMID:12839834   PMID:12865275   PMID:12881448   PMID:12881487   PMID:12881616   PMID:12885340   PMID:12913074   PMID:12919146  
PMID:12933354   PMID:12938099   PMID:12939655   PMID:12943157   PMID:12952861   PMID:12955726   PMID:12969205   PMID:14500527   PMID:14526128   PMID:14534336   PMID:14555664   PMID:14564043  
PMID:14567462   PMID:14570915   PMID:14576497   PMID:14595111   PMID:14604981   PMID:14605249   PMID:14660592   PMID:14675537   PMID:14679190   PMID:14679199   PMID:14681029   PMID:14685937  
PMID:14688350   PMID:14688470   PMID:14697202   PMID:14699484   PMID:14706455   PMID:14747162   PMID:14760158   PMID:14966131   PMID:15001557   PMID:15010471   PMID:15017334   PMID:15024729  
PMID:15025720   PMID:15039462   PMID:15048129   PMID:15060073   PMID:15066992   PMID:15070876   PMID:15075371   PMID:15084222   PMID:15084988   PMID:15097853   PMID:15104594   PMID:15105504  
PMID:15125256   PMID:15151509   PMID:15171831   PMID:15173476   PMID:15176679   PMID:15215312   PMID:15215316   PMID:15233679   PMID:15238770   PMID:15244104   PMID:15247233   PMID:15247260  
PMID:15265695   PMID:15272010   PMID:15274098   PMID:15284228   PMID:15286085   PMID:15300780   PMID:15332739   PMID:15333598   PMID:15342786   PMID:15354331   PMID:15354332   PMID:15358638  
PMID:15361357   PMID:15364959   PMID:15365999   PMID:15367919   PMID:15371258   PMID:15371903   PMID:15371907   PMID:15371908   PMID:15371909   PMID:15379964   PMID:15463840   PMID:15463854  
PMID:15463893   PMID:15463906   PMID:15471937   PMID:15472711   PMID:15474513   PMID:15477385   PMID:15479737   PMID:15480987   PMID:15486385   PMID:15505732   PMID:15528182   PMID:15533353  
PMID:15533383   PMID:15537723   PMID:15546864   PMID:15553237   PMID:15563584   PMID:15591474   PMID:15596536   PMID:15611333   PMID:15619635   PMID:15619636   PMID:15623556   PMID:15633186  
PMID:15634668   PMID:15637983   PMID:15638824   PMID:15640323   PMID:15644056   PMID:15645646   PMID:15665983   PMID:15672947   PMID:15677769   PMID:15681482   PMID:15684079   PMID:15684701  
PMID:15698945   PMID:15698946   PMID:15699697   PMID:15705621   PMID:15716351   PMID:15729345   PMID:15738290   PMID:15741992   PMID:15746174   PMID:15749233   PMID:15752682   PMID:15772171  
PMID:15775704   PMID:15776432   PMID:15784035   PMID:15832355   PMID:15858154   PMID:15870673   PMID:15880249   PMID:15905293   PMID:15923638   PMID:15936019   PMID:15937068   PMID:15944206  
PMID:15948196   PMID:15958523   PMID:15964894   PMID:15987793   PMID:15994263   PMID:15997883   PMID:16001079   PMID:16014420   PMID:16020494   PMID:16051530   PMID:16075239   PMID:16114821  
PMID:16126774   PMID:16127463   PMID:16128988   PMID:16132229   PMID:16137181   PMID:16143588   PMID:16162662   PMID:16163053   PMID:16166089   PMID:16170155   PMID:16177360   PMID:16182665  
PMID:16187186   PMID:16189704   PMID:16193325   PMID:16202781   PMID:16202788   PMID:16203733   PMID:16203867   PMID:16207813   PMID:16207846   PMID:16210354   PMID:16212675   PMID:16226002  
PMID:16236828   PMID:16238926   PMID:16239222   PMID:16243854   PMID:16245306   PMID:16246030   PMID:16246032   PMID:16258369   PMID:16266832   PMID:16272798   PMID:16275171   PMID:16281647  
PMID:16311077   PMID:16311240   PMID:16341382   PMID:16354855   PMID:16361259   PMID:16379540   PMID:16390870   PMID:16399952   PMID:16412743   PMID:16413502   PMID:16421216   PMID:16427927  
PMID:16435054   PMID:16436375   PMID:16436643   PMID:16443646   PMID:16463140   PMID:16463769   PMID:16466905   PMID:16469739   PMID:16470247   PMID:16481891   PMID:16485779   PMID:16493442  
PMID:16499810   PMID:16527813   PMID:16531569   PMID:16541275   PMID:16546175   PMID:16572913   PMID:16574992   PMID:16581722   PMID:16596947   PMID:16617247   PMID:16621797   PMID:16635477  
PMID:16678395   PMID:16690975   PMID:16708396   PMID:16713399   PMID:16714368   PMID:16715841   PMID:16762324   PMID:16764792   PMID:16778407   PMID:16778595   PMID:16799633   PMID:16801189  
PMID:16822950   PMID:16828872   PMID:16830219   PMID:16844684   PMID:16857740   PMID:16865856   PMID:16901789   PMID:16915933   PMID:16920886   PMID:16938751   PMID:16954204   PMID:16954950  
PMID:16963320   PMID:16966475   PMID:16973827   PMID:16980811   PMID:16987954   PMID:16990428   PMID:17003555   PMID:17003560   PMID:17003641   PMID:17005267   PMID:17012229   PMID:17015704  
PMID:17043148   PMID:17043152   PMID:17047984   PMID:17084917   PMID:17098864   PMID:17110338   PMID:17113596   PMID:17158866   PMID:17182731   PMID:17206681   PMID:17212919   PMID:17234733  
PMID:17235394   PMID:17237149   PMID:17242497   PMID:17244609   PMID:17254580   PMID:17272822   PMID:17272866   PMID:17283089   PMID:17283574   PMID:17314234   PMID:17329263   PMID:17331079  
PMID:17337503   PMID:17347778   PMID:17353351   PMID:17392477   PMID:17394391   PMID:17409124   PMID:17432547   PMID:17434346   PMID:17446304   PMID:17448246   PMID:17462998   PMID:17466952  
PMID:17469153   PMID:17475917   PMID:17481968   PMID:17489851   PMID:17495464   PMID:17516627   PMID:17519339   PMID:17531517   PMID:17531547   PMID:17532368   PMID:17539902   PMID:17540036  
PMID:17544945   PMID:17546509   PMID:17553491   PMID:17560176   PMID:17572159   PMID:17573513   PMID:17575549   PMID:17580311   PMID:17580535   PMID:17588945   PMID:17590432   PMID:17594397  
PMID:17595519   PMID:17603939   PMID:17609059   PMID:17613530   PMID:17615287   PMID:17627383   PMID:17632788   PMID:17652219   PMID:17654517   PMID:17660831   PMID:17662673   PMID:17673436  
PMID:17678620   PMID:17690208   PMID:17707141   PMID:17716958   PMID:17718859   PMID:17719926   PMID:17719933   PMID:17761461   PMID:17762174   PMID:17805562   PMID:17823699   PMID:17825628  
PMID:17848139   PMID:17869070   PMID:17873061   PMID:17877132   PMID:17890437   PMID:17901983   PMID:17903301   PMID:17911111   PMID:17913705   PMID:17913891   PMID:17932045   PMID:17943404  
PMID:17975025   PMID:17982258   PMID:17985657   PMID:18045536   PMID:18045644   PMID:18047834   PMID:18050608   PMID:18055505   PMID:18056267   PMID:18057956   PMID:18076731   PMID:18078202  
PMID:18096515   PMID:18164141   PMID:18167357   PMID:18178635   PMID:18184109   PMID:18209474   PMID:18216283   PMID:18224335   PMID:18227622   PMID:18230779   PMID:18234567   PMID:18243066  
PMID:18264947   PMID:18279436   PMID:18280224   PMID:18280771   PMID:18294702   PMID:18304008   PMID:18305154   PMID:18306312   PMID:18319256   PMID:18344710   PMID:18350634   PMID:18353929  
PMID:18359885   PMID:18360295   PMID:18361452   PMID:18361776   PMID:18366345   PMID:18372427   PMID:18373402   PMID:18385167   PMID:18392808   PMID:18421494   PMID:18423665   PMID:18424453  
PMID:18430055   PMID:18441018   PMID:18458236   PMID:18467194   PMID:18474670   PMID:18535191   PMID:18555783   PMID:18556464   PMID:18556774   PMID:18563405   PMID:18567645   PMID:18570918  
PMID:18597042   PMID:18600482   PMID:18616886   PMID:18622306   PMID:18625144   PMID:18658148   PMID:18676185   PMID:18682497   PMID:18685642   PMID:18687795   PMID:18694937   PMID:18703181  
PMID:18708637   PMID:18716059   PMID:18723516   PMID:18755906   PMID:18757309   PMID:18764821   PMID:18769032   PMID:18769034   PMID:18769035   PMID:18773956   PMID:18778819   PMID:18779379  
PMID:18782298   PMID:18788470   PMID:18794359   PMID:18797695   PMID:18802965   PMID:18810634   PMID:18938114   PMID:18951463   PMID:18953248   PMID:18955805   PMID:18973672   PMID:18986377  
PMID:18989824   PMID:18992954   PMID:19015188   PMID:19017867   PMID:19019741   PMID:19027279   PMID:19047750   PMID:19056735   PMID:19061877   PMID:19077469   PMID:19079680   PMID:19092444  
PMID:19096130   PMID:19098309   PMID:19106752   PMID:19126627   PMID:19129223   PMID:19136563   PMID:19137597   PMID:19144995   PMID:19166122   PMID:19167254   PMID:19168702   PMID:19181743  
PMID:19219329   PMID:19227414   PMID:19233847   PMID:19236881   PMID:19244346   PMID:19247502   PMID:19247692   PMID:19265749   PMID:19269966   PMID:19289574   PMID:19306924   PMID:19332621  
PMID:19333236   PMID:19343046   PMID:19372188   PMID:19381016   PMID:19381710   PMID:19383231   PMID:19386787   PMID:19398555   PMID:19403599   PMID:19411311   PMID:19419506   PMID:19419994  
PMID:19443567   PMID:19449463   PMID:19457724   PMID:19465887   PMID:19481256   PMID:19481507   PMID:19491865   PMID:19502384   PMID:19502387   PMID:19524678   PMID:19533735   PMID:19540513  
PMID:19584075   PMID:19593166   PMID:19596328   PMID:19615439   PMID:19617352   PMID:19621064   PMID:19625452   PMID:19643730   PMID:19645745   PMID:19649303   PMID:19652440   PMID:19654104  
PMID:19669005   PMID:19696993   PMID:19707853   PMID:19710401   PMID:19715466   PMID:19724303   PMID:19728845   PMID:19734299   PMID:19737283   PMID:19740743   PMID:19752774   PMID:19759008  
PMID:19760540   PMID:19761259   PMID:19781595   PMID:19782160   PMID:19808659   PMID:19810821   PMID:19812525   PMID:19818767   PMID:19828134   PMID:19833837   PMID:19837660   PMID:19840964  
PMID:19844201   PMID:19845690   PMID:19847091   PMID:19847291   PMID:19852935   PMID:19878303   PMID:19883345   PMID:19885835   PMID:19889841   PMID:19890664   PMID:19893581   PMID:19897426  
PMID:19897727   PMID:19910674   PMID:19913121   PMID:19917960   PMID:19923167   PMID:19944699   PMID:19966789   PMID:19999232   PMID:20005786   PMID:20008117   PMID:20018497   PMID:20021716  
PMID:20032308   PMID:20041182   PMID:20044041   PMID:20044437   PMID:20052766   PMID:20053923   PMID:20059485   PMID:20080093   PMID:20080601   PMID:20089668   PMID:20089840   PMID:20093721  
PMID:20098842   PMID:20100616   PMID:20108119   PMID:20110398   PMID:20110677   PMID:20128270   PMID:20133716   PMID:20142516   PMID:20147297   PMID:20156845   PMID:20163773   PMID:20167849  
PMID:20167933   PMID:20178459   PMID:20203293   PMID:20215869   PMID:20233062   PMID:20233947   PMID:20301428   PMID:20334484   PMID:20351096   PMID:20351098   PMID:20351101   PMID:20386322  
PMID:20398666   PMID:20400957   PMID:20435887   PMID:20442009   PMID:20453000   PMID:20460375   PMID:20460946   PMID:20463919   PMID:20473396   PMID:20487541   PMID:20498480   PMID:20502448  
PMID:20512161   PMID:20517942   PMID:20521170   PMID:20525683   PMID:20530751   PMID:20532200   PMID:20534503   PMID:20543983   PMID:20551307   PMID:20551465   PMID:20554763   PMID:20557290  
PMID:20560922   PMID:20561529   PMID:20565774   PMID:20581470   PMID:20590134   PMID:20595578   PMID:20607857   PMID:20616615   PMID:20628052   PMID:20628086   PMID:20644644   PMID:20651848  
PMID:20658517   PMID:20659818   PMID:20667826   PMID:20675380   PMID:20686068   PMID:20687133   PMID:20687163   PMID:20691141   PMID:20696241   PMID:20706124   PMID:20709758   PMID:20711182  
PMID:20717170   PMID:20727849   PMID:20732993   PMID:20734777   PMID:20739289   PMID:20797923   PMID:20799947   PMID:20826815   PMID:20844248   PMID:20861014   PMID:20861072   PMID:20870018  
PMID:20875776   PMID:20879059   PMID:20881360   PMID:20923678   PMID:20926782   PMID:20932301   PMID:20933420   PMID:20949073   PMID:20950468   PMID:20952391   PMID:20972246   PMID:20977904  
PMID:21036675   PMID:21059651   PMID:21067452   PMID:21083385   PMID:21097845   PMID:21105033   PMID:21110105   PMID:21131241   PMID:21131649   PMID:21135173   PMID:21135815   PMID:21140215  
PMID:21152102   PMID:21184098   PMID:21198395   PMID:21219377   PMID:21228336   PMID:21254931   PMID:21263071   PMID:21296036   PMID:21296873   PMID:21317048   PMID:21317537   PMID:21326906  
PMID:21352263   PMID:21407263   PMID:21411725   PMID:21419343   PMID:21424674   PMID:21427159   PMID:21449922   PMID:21455491   PMID:21461971   PMID:21483833   PMID:21486785   PMID:21499205  
PMID:21507732   PMID:21520337   PMID:21525008   PMID:21536020   PMID:21594788   PMID:21602569   PMID:21647592   PMID:21658649   PMID:21663921   PMID:21697503   PMID:21708286   PMID:21708986  
PMID:21746847   PMID:21753184   PMID:21762191   PMID:21779199   PMID:21779978   PMID:21782926   PMID:21792085   PMID:21807898   PMID:21811577   PMID:21825083   PMID:21837768   PMID:21840567  
PMID:21843195   PMID:21873635   PMID:21884936   PMID:21898230   PMID:21913191   PMID:21914796   PMID:21931164   PMID:21950345   PMID:21965669   PMID:21967060   PMID:21983161   PMID:21990373  
PMID:21998193   PMID:21999194   PMID:22003093   PMID:22006324   PMID:22014307   PMID:22028919   PMID:22030396   PMID:22035343   PMID:22038833   PMID:22058188   PMID:22069321   PMID:22074182  
PMID:22081250   PMID:22094894   PMID:22103471   PMID:22119790   PMID:22121115   PMID:22131388   PMID:22137130   PMID:22138491   PMID:22148899   PMID:22163268   PMID:22170045   PMID:22178883  
PMID:22191729   PMID:22201896   PMID:22209734   PMID:22210114   PMID:22212348   PMID:22234285   PMID:22265408   PMID:22278744   PMID:22287709   PMID:22299590   PMID:22302988   PMID:22303012  
PMID:22315512   PMID:22324837   PMID:22332135   PMID:22340520   PMID:22352759   PMID:22366207   PMID:22366595   PMID:22369017   PMID:22374202   PMID:22379635   PMID:22395041   PMID:22399289  
PMID:22406676   PMID:22407040   PMID:22423042   PMID:22427236   PMID:22442149   PMID:22467879   PMID:22474283   PMID:22483971   PMID:22496330   PMID:22505710   PMID:22520513   PMID:22525089  
PMID:22533779   PMID:22545782   PMID:22569626   PMID:22570484   PMID:22591852   PMID:22627569   PMID:22658665   PMID:22664493   PMID:22671145   PMID:22675668   PMID:22678879   PMID:22680785  
PMID:22683332   PMID:22711071   PMID:22722932   PMID:22768251   PMID:22781910   PMID:22797075   PMID:22798282   PMID:22821996   PMID:22842702   PMID:22843683   PMID:22853952   PMID:22869372  
PMID:22872573   PMID:22879944   PMID:22890249   PMID:22904170   PMID:22922672   PMID:22948143   PMID:22964850   PMID:22973054   PMID:22989055   PMID:23043932   PMID:23045527   PMID:23052212  
PMID:23060444   PMID:23061681   PMID:23064458   PMID:23067305   PMID:23072488   PMID:23082198   PMID:23092102   PMID:23115232   PMID:23148778   PMID:23155000   PMID:23178238   PMID:23185247  
PMID:23206872   PMID:23214250   PMID:23226399   PMID:23272037   PMID:23276700   PMID:23284076   PMID:23284854   PMID:23317763   PMID:23325854   PMID:23349053   PMID:23376485   PMID:23378595  
PMID:23378603   PMID:23381846   PMID:23392723   PMID:23429570   PMID:23440202   PMID:23457187   PMID:23463513   PMID:23470247   PMID:23483918   PMID:23486169   PMID:23488803   PMID:23504457  
PMID:23520314   PMID:23523754   PMID:23537407   PMID:23555973   PMID:23572510   PMID:23590265   PMID:23609890   PMID:23613805   PMID:23617438   PMID:23636454   PMID:23640294   PMID:23640408  
PMID:23644890   PMID:23666117   PMID:23670503   PMID:23671668   PMID:23686137   PMID:23689137   PMID:23709221   PMID:23727931   PMID:23742042   PMID:23742099   PMID:23751316   PMID:23760269  
PMID:23761628   PMID:23784542   PMID:23785806   PMID:23818989   PMID:23827485   PMID:23832438   PMID:23837941   PMID:23857699   PMID:23865422   PMID:23897018   PMID:23916755   PMID:23921386  
PMID:23924900   PMID:23934925   PMID:23951356   PMID:23953609   PMID:23974870   PMID:23977375   PMID:23986201   PMID:23988329   PMID:23990462   PMID:23998339   PMID:24019521   PMID:24024153  
PMID:24058550   PMID:24077955   PMID:24086355   PMID:24105369   PMID:24106801   PMID:24117047   PMID:24129438   PMID:24178769   PMID:24204751   PMID:24210758   PMID:24220302   PMID:24225052  
PMID:24327157   PMID:24338365   PMID:24341413   PMID:24357848   PMID:24373847   PMID:24388274   PMID:24412276   PMID:24420771   PMID:24433235   PMID:24440239   PMID:24440874   PMID:24448802  
PMID:24451227   PMID:24475974   PMID:24500283   PMID:24502094   PMID:24513531   PMID:24517344   PMID:24520399   PMID:24522694   PMID:24534272   PMID:24535988   PMID:24550193   PMID:24551851  
PMID:24559724   PMID:24568560   PMID:24583165   PMID:24586523   PMID:24586903   PMID:24613836   PMID:24624459   PMID:24628315   PMID:24631642   PMID:24633926   PMID:24660233   PMID:24685677  
PMID:24709693   PMID:24713676   PMID:24727471   PMID:24758101   PMID:24777605   PMID:24782114   PMID:24788249   PMID:24876383   PMID:24885604   PMID:24893876   PMID:24909068   PMID:24914548  
PMID:24925916   PMID:24934256   PMID:24945658   PMID:24957904   PMID:24958810   PMID:24973281   PMID:25003218   PMID:25010724   PMID:25033378   PMID:25042876   PMID:25046381   PMID:25062999  
PMID:25107366   PMID:25120007   PMID:25143385   PMID:25176415   PMID:25184794   PMID:25186262   PMID:25190805   PMID:25217870   PMID:25253636   PMID:25259561   PMID:25266159   PMID:25274064  
PMID:25274779   PMID:25277268   PMID:25287046   PMID:25304080   PMID:25330774   PMID:25336128   PMID:25350163   PMID:25367045   PMID:25381027   PMID:25383785   PMID:25384981   PMID:25403292  
PMID:25406061   PMID:25443471   PMID:25453871   PMID:25481366   PMID:25489051   PMID:25492507   PMID:25501174   PMID:25503271   PMID:25580864   PMID:25631877   PMID:25640670   PMID:25661196  
PMID:25673337   PMID:25675422   PMID:25676312   PMID:25697318   PMID:25697727   PMID:25712891   PMID:25714715   PMID:25738998   PMID:25747701   PMID:25760446   PMID:25768293   PMID:25769931  
PMID:25795456   PMID:25797027   PMID:25799511   PMID:25800681   PMID:25824381   PMID:25824995   PMID:25825526   PMID:25826586   PMID:25829545   PMID:25835118   PMID:25839760   PMID:25869325  
PMID:25879443   PMID:25887396   PMID:25892339   PMID:25908822   PMID:25944907   PMID:25956447   PMID:25981744   PMID:25981758   PMID:26006199   PMID:26018799   PMID:26024338   PMID:26055330  
PMID:26062600   PMID:26073863   PMID:26075213   PMID:26079370   PMID:26083625   PMID:26100556   PMID:26149808   PMID:26153705   PMID:26209275   PMID:26225805   PMID:26229102   PMID:26250833  
PMID:26277102   PMID:26282188   PMID:26283735   PMID:26293390   PMID:26335336   PMID:26335950   PMID:26336106   PMID:26357939   PMID:26358851   PMID:26418372   PMID:26436368   PMID:26469863  
PMID:26493493   PMID:26496611   PMID:26517900   PMID:26517912   PMID:26549617   PMID:26568242   PMID:26606940   PMID:26615198   PMID:26618866   PMID:26627831   PMID:26627832   PMID:26658045  
PMID:26671754   PMID:26683699   PMID:26692446   PMID:26694899   PMID:26710934   PMID:26724724   PMID:26751771   PMID:26800689   PMID:26823603   PMID:26850167   PMID:26888287   PMID:26911344  
PMID:26911355   PMID:26911677   PMID:26948992   PMID:26950439   PMID:26989879   PMID:26996268   PMID:27004488   PMID:27017198   PMID:27086061   PMID:27092946   PMID:27103391   PMID:27109987  
PMID:27148940   PMID:27155366   PMID:27168400   PMID:27174726   PMID:27182737   PMID:27206858   PMID:27209008   PMID:27215038   PMID:27226582   PMID:27261451   PMID:27278076   PMID:27301931  
PMID:27308891   PMID:27311317   PMID:27328319   PMID:27340661   PMID:27406994   PMID:27447098   PMID:27469177   PMID:27471203   PMID:27475719   PMID:27483469   PMID:27488005   PMID:27491544  
PMID:27518913   PMID:27527752   PMID:27558159   PMID:27578509   PMID:27588407   PMID:27615377   PMID:27696113   PMID:27699452   PMID:27699454   PMID:27704173   PMID:27714410   PMID:27714810  
PMID:27717958   PMID:27722768   PMID:27728908   PMID:27734094   PMID:27738188   PMID:27756846   PMID:27768743   PMID:27769067   PMID:27793802   PMID:27832634   PMID:27833020   PMID:27860385  
PMID:27870250   PMID:27895116   PMID:27898234   PMID:27913277   PMID:27941075   PMID:27960153   PMID:27996019   PMID:28001373   PMID:28003367   PMID:28040058   PMID:28067262   PMID:28079883  
PMID:28087700   PMID:28088327   PMID:28122735   PMID:28130590   PMID:28134438   PMID:28185838   PMID:28204942   PMID:28213469   PMID:28225751   PMID:28230279   PMID:28233695   PMID:28234153  
PMID:28235656   PMID:28273890   PMID:28340353   PMID:28360110   PMID:28384194   PMID:28392015   PMID:28419121   PMID:28445932   PMID:28448979   PMID:28456595   PMID:28468577   PMID:28474046  
PMID:28490422   PMID:28495756   PMID:28510592   PMID:28536625   PMID:28538847   PMID:28544683   PMID:28545452   PMID:28575328   PMID:28592122   PMID:28603918   PMID:28608624   PMID:28615646  
PMID:28617084   PMID:28620757   PMID:28634110   PMID:28655774   PMID:28698463   PMID:28701694   PMID:28708422   PMID:28762521   PMID:28771972   PMID:28774558   PMID:28776713   PMID:28780053  
PMID:28805732   PMID:28825630   PMID:28844486   PMID:28855508   PMID:28875346   PMID:28941802   PMID:28944753   PMID:28963502   PMID:28977592   PMID:29035608   PMID:29054758   PMID:29079751  
PMID:29091309   PMID:29099293   PMID:29100868   PMID:29140739   PMID:29158263   PMID:29167681   PMID:29178639   PMID:29215541   PMID:29246444   PMID:29251738   PMID:29293275   PMID:29307731  
PMID:29326073   PMID:29331508   PMID:29360847   PMID:29411041   PMID:29425673   PMID:29441426   PMID:29503250   PMID:29520692   PMID:29524019   PMID:29526175   PMID:29536650   PMID:29549268  
PMID:29555962   PMID:29573703   PMID:29589582   PMID:29635781   PMID:29743243   PMID:29807875   PMID:29864494   PMID:29924966   PMID:29936070   PMID:29954133   PMID:29986553   PMID:29986884  
PMID:29987050   PMID:29995784   PMID:30006345   PMID:30033373   PMID:30066085   PMID:30069044   PMID:30069046   PMID:30132293   PMID:30152709   PMID:30214069   PMID:30230364   PMID:30232781  
PMID:30243510   PMID:30268379   PMID:30287473   PMID:30296588   PMID:30297908   PMID:30333319   PMID:30358020   PMID:30358440   PMID:30384810   PMID:30389601   PMID:30403549   PMID:30419605  
PMID:30450785   PMID:30459277   PMID:30467074   PMID:30485852   PMID:30488522   PMID:30498130   PMID:30547226   PMID:30561903   PMID:30563749   PMID:30573361   PMID:30580531   PMID:30598261  
PMID:30599064   PMID:30600261   PMID:30639242   PMID:30659943   PMID:30670178   PMID:30726326   PMID:30738013   PMID:30742493   PMID:30758641   PMID:30763667   PMID:30841439   PMID:30851139  
PMID:30893953   PMID:30898088   PMID:30915480   PMID:30938940   PMID:30964354   PMID:30979466   PMID:30985981   PMID:31014000   PMID:31026390   PMID:31048413   PMID:31075352   PMID:31117296  
PMID:31119779   PMID:31126253   PMID:31136843   PMID:31145101   PMID:31199594   PMID:31201318   PMID:31210424   PMID:31245908   PMID:31251978   PMID:31262295   PMID:31270271   PMID:31285458  
PMID:31298435   PMID:31310009   PMID:31324722   PMID:31357024   PMID:31408507   PMID:31409396   PMID:31444000   PMID:31450978   PMID:31481727   PMID:31501480   PMID:31541117   PMID:31551433  
PMID:31561038   PMID:31563560   PMID:31585024   PMID:31593019   PMID:31593572   PMID:31596601   PMID:31610925   PMID:31631611   PMID:31645438   PMID:31659725   PMID:31659727   PMID:31659732  
PMID:31664151   PMID:31672438   PMID:31679154   PMID:31709488   PMID:31721358   PMID:31748811   PMID:31820482   PMID:31825178   PMID:31882543   PMID:31889700   PMID:31936842   PMID:31940241  
PMID:31954520   PMID:31978131   PMID:31998800   PMID:32014995   PMID:32095812   PMID:32102849   PMID:32106665   PMID:32204475   PMID:32216241   PMID:32265312   PMID:32276344   PMID:32282124  
PMID:32286879   PMID:32296164   PMID:32333139   PMID:32356101   PMID:32357917   PMID:32377875   PMID:32404922   PMID:32414011   PMID:32429104   PMID:32432926   PMID:32439152   PMID:32442342  
PMID:32463592   PMID:32466381   PMID:32469934   PMID:32484936   PMID:32485957   PMID:32487539   PMID:32512765   PMID:32540173   PMID:32540817   PMID:32563932   PMID:32574800   PMID:32630527  
PMID:32640650   PMID:32650630   PMID:32669225   PMID:32687833   PMID:32734384   PMID:32741662   PMID:32751630   PMID:32777524   PMID:32846335   PMID:32848127   PMID:32855272   PMID:32877225  
PMID:32934006   PMID:32951344   PMID:32967385   PMID:32967799   PMID:32973772   PMID:32992607   PMID:33003980   PMID:33085659   PMID:33093640   PMID:33095972   PMID:33106471   PMID:33113586  
PMID:33173976   PMID:33188942   PMID:33191543   PMID:33219628   PMID:33249003   PMID:33249004   PMID:33264332   PMID:33278322   PMID:33296276   PMID:33339768   PMID:33386644   PMID:33393655  
PMID:33420548   PMID:33444622   PMID:33468668   PMID:33516285   PMID:33534640   PMID:33572515   PMID:33589413   PMID:33613790   PMID:33616476   PMID:33616840   PMID:33650203   PMID:33682322  
PMID:33710504   PMID:33719834   PMID:33737583   PMID:33771570   PMID:33781744   PMID:33807548   PMID:33810137   PMID:33868246   PMID:33919435   PMID:33920274   PMID:33921231   PMID:33924524  
PMID:33926975   PMID:33946490   PMID:33949097   PMID:33971543   PMID:34016558   PMID:34037494   PMID:34049825   PMID:34067708   PMID:34071719   PMID:34086689   PMID:34103250   PMID:34140249  
PMID:34155362   PMID:34175042   PMID:34196078   PMID:34289939   PMID:34333923   PMID:34341587   PMID:34411298   PMID:34525262   PMID:34605540   PMID:34647973   PMID:34664411   PMID:34666996  
PMID:34680050   PMID:34686332   PMID:34755701   PMID:34756682   PMID:34782259   PMID:34799297   PMID:34828417   PMID:34860163   PMID:34870594   PMID:34884866   PMID:34901273   PMID:34931337  
PMID:34936285   PMID:34943927   PMID:34947992   PMID:34996830   PMID:35008443   PMID:35020527   PMID:35060604   PMID:35065958   PMID:35115637   PMID:35134493   PMID:35156780   PMID:35163362  
PMID:35212296   PMID:35216222   PMID:35256949   PMID:35273129   PMID:35315358   PMID:35315363   PMID:35317058   PMID:35327663   PMID:35341742   PMID:35348309   PMID:35365085   PMID:35430640  
PMID:35451201   PMID:35456026   PMID:35468710   PMID:35471184   PMID:35487895   PMID:35500936   PMID:35605483   PMID:35646184   PMID:35690578   PMID:35697137   PMID:35700866   PMID:35715537  
PMID:35864004   PMID:35894192   PMID:35913788   PMID:35932130   PMID:35933722   PMID:35988290   PMID:36008229   PMID:36012204   PMID:36044164   PMID:36142302   PMID:36142862   PMID:36216744  
PMID:36253274   PMID:36264955   PMID:36272381   PMID:36476557   PMID:36528828   PMID:36552859   PMID:36555865   PMID:36567205   PMID:36576330   PMID:36604502   PMID:36621372   PMID:36621373  
PMID:36645858   PMID:36662267   PMID:36662672   PMID:36694009   PMID:36723516   PMID:36768629   PMID:36858322   PMID:36883543   PMID:36895161   PMID:36949202   PMID:36952679   PMID:36979360  
PMID:37047318   PMID:37047546   PMID:37100706   PMID:37140364   PMID:37175647   PMID:37278811   PMID:37315117   PMID:37338585   PMID:37371529   PMID:37373505   PMID:37489040   PMID:37491532  
PMID:37510311   PMID:37511222   PMID:37581935   PMID:37643009   PMID:37644544   PMID:37686084   PMID:37715489   PMID:37728222   PMID:37762516   PMID:37777263   PMID:37801035   PMID:37815569  
PMID:37913507   PMID:37998353   PMID:38003474   PMID:38054992   PMID:38073611   PMID:38114870   PMID:38246579   PMID:38247876   PMID:38284125   PMID:38284450   PMID:38363865   PMID:38372567  
PMID:38493004   PMID:38542363   PMID:38662334   PMID:38697102   PMID:38734430   PMID:38892373   PMID:39009827   PMID:39024311   PMID:39043712  


Genomics

Comparative Map Data
CFTR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387117,480,025 - 117,668,665 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7117,287,120 - 117,715,971 (+)EnsemblGRCh38hg38GRCh38
GRCh377117,120,079 - 117,308,719 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367116,907,253 - 117,095,955 (+)NCBINCBI36Build 36hg18NCBI36
Build 347116,713,967 - 116,902,666NCBI
Celera7111,928,196 - 112,116,895 (+)NCBICelera
Cytogenetic Map7q31.2NCBI
HuRef7111,485,640 - 111,674,189 (+)NCBIHuRef
CHM1_17117,053,369 - 117,242,163 (+)NCBICHM1_1
T2T-CHM13v2.07118,795,361 - 118,984,026 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27116,515,451 - 116,704,154 (+)NCBI
Cftr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39618,170,686 - 18,322,769 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl618,170,686 - 18,322,767 (+)EnsemblGRCm39 Ensembl
GRCm38618,170,687 - 18,322,770 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl618,170,687 - 18,322,768 (+)EnsemblGRCm38mm10GRCm38
MGSCv37618,120,687 - 18,272,770 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36618,120,687 - 18,272,767 (+)NCBIMGSCv36mm8
Celera618,244,038 - 18,394,318 (+)NCBICelera
Cytogenetic Map6A2NCBI
cM Map68.1NCBI
Cftr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8447,422,084 - 47,694,646 (+)NCBIGRCr8
mRatBN7.2446,561,269 - 46,728,759 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl446,560,885 - 46,728,756 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx451,555,445 - 51,722,327 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0447,476,543 - 47,643,463 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0445,898,615 - 46,060,553 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0442,693,263 - 42,860,679 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl442,692,836 - 42,860,676 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0442,281,040 - 42,448,571 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4443,874,852 - 44,041,870 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1444,147,212 - 44,195,889 (+)NCBI
Celera441,826,966 - 41,988,614 (+)NCBICelera
Cytogenetic Map4q22NCBI
Cftr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543223,178,866 - 23,328,382 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543223,179,645 - 23,328,347 (+)NCBIChiLan1.0ChiLan1.0
CFTR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26154,309,496 - 154,492,867 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan176,319,752 - 6,503,124 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07109,449,847 - 109,633,023 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17122,144,821 - 122,327,511 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7122,129,798 - 122,327,864 (+)Ensemblpanpan1.1panPan2
CFTR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11456,290,417 - 56,452,919 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1456,290,275 - 56,453,977 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1455,685,755 - 55,848,173 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01456,330,071 - 56,492,372 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1456,329,929 - 56,492,482 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11456,368,632 - 56,531,008 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01456,049,412 - 56,212,168 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01456,421,094 - 56,583,513 (+)NCBIUU_Cfam_GSD_1.0
Cftr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511844,970,647 - 45,124,331 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365891,565,933 - 1,719,208 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CFTR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1828,627,728 - 28,817,950 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11828,627,717 - 28,818,209 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21830,396,465 - 30,566,680 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CFTR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12186,154,313 - 86,332,436 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604217,387,997 - 17,576,802 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cftr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248271,704,733 - 1,893,579 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CFTR
5014 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000492.4(CFTR):c.1211G>T (p.Gly404Val) single nucleotide variant CFTR-related disorder [RCV001834713]|Cystic fibrosis [RCV000542240]|not specified [RCV003317258] Chr7:117548642 [GRCh38]
Chr7:117188696 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002481755]|CFTR-related disorder [RCV001829535]|Cystic fibrosis [RCV000526413]|Hereditary pancreatitis [RCV003338646]|not provided [RCV000590353]|not specified [RCV003235272] Chr7:117534294 [GRCh38]
Chr7:117174348 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu) single nucleotide variant CFTR-related disorder [RCV001829532]|Cystic fibrosis [RCV000542704]|not provided [RCV001509318]|not specified [RCV001001015] Chr7:117594941 [GRCh38]
Chr7:117234995 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1429C>T (p.Pro477Ser) single nucleotide variant Cystic fibrosis [RCV000532369]|not provided [RCV000759753]|not specified [RCV000781249] Chr7:117559500 [GRCh38]
Chr7:117199554 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473034]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005042005]|CFTR-related disorder [RCV001027909]|Cystic fibrosis [RCV000007602]|Cystic fibrosis [RCV001004250]|Cystic fibrosis [RCV001009366]|not provided [RCV000224726]|not specified [RCV000508504] Chr7:117540270 [GRCh38]
Chr7:117180324 [GRCh37]
Chr7:7q31.2
pathogenic|drug response
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005031457]|CFTR-related disorder [RCV001163392]|Cystic fibrosis [RCV000046339]|Hereditary pancreatitis [RCV002247397]|not provided [RCV000589201]|not specified [RCV000855641] Chr7:117559629 [GRCh38]
Chr7:117199683 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.1581A>G (p.Glu527=) single nucleotide variant CFTR-related disorder [RCV001095254]|Cystic fibrosis [RCV000259423]|Hereditary pancreatitis [RCV000029479]|not provided [RCV000755237]|not specified [RCV000150336] Chr7:117559652 [GRCh38]
Chr7:117199706 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) single nucleotide variant CFTR-related disorder [RCV001009505]|Cystic fibrosis [RCV000007617]|not provided [RCV000046398]|not specified [RCV000174251] Chr7:117587820 [GRCh38]
Chr7:117227874 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763577]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473129]|CFTR-related disorder [RCV002228058]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001588828]|Cystic fibrosis [RCV000046498]|Cystic fibrosis [RCV001004277]|Cystic fibrosis [RCV001009381]|Hereditary pancreatitis [RCV002256004]|not provided [RCV000506455] Chr7:117592032 [GRCh38]
Chr7:117232086 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000492.4(CFTR):c.2374C>G (p.Arg792Gly) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002482909]|CFTR-related disorder [RCV004734532]|Cystic fibrosis [RCV001275770]|Hereditary pancreatitis [RCV002256006]|not provided [RCV000724677]|not specified [RCV000999892] Chr7:117592541 [GRCh38]
Chr7:117232595 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000515401]|CFTR-related disorder [RCV001009483]|Cystic fibrosis [RCV000197986]|Hereditary pancreatitis [RCV002257361]|not provided [RCV000725433]|not specified [RCV000313144] Chr7:117592588 [GRCh38]
Chr7:117232642 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.2813T>G (p.Val938Gly) single nucleotide variant CFTR-related disorder [RCV002284180]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV000029505]|Cystic fibrosis [RCV001378467]|not provided [RCV000730038]|not specified [RCV000506921] Chr7:117603687 [GRCh38]
Chr7:117243741 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473135]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005042091]|CFTR-related disorder [RCV002228059]|Cystic fibrosis [RCV000046718]|Cystic fibrosis [RCV001004490]|not provided [RCV001781321]|not specified [RCV001002487] Chr7:117606674 [GRCh38]
Chr7:117246728 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473140]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005042093]|CFTR-related disorder [RCV001009471]|Cystic fibrosis [RCV000046799]|Cystic fibrosis [RCV001004295]|Hereditary pancreatitis [RCV000770985]|ivacaftor response - Efficacy [RCV000660777]|not provided [RCV000224816] Chr7:117611595 [GRCh38]
Chr7:117251649 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|drug response|uncertain significance|not provided
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473141]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031461]|CFTR-related disorder [RCV002228060]|Cystic fibrosis [RCV000046825]|Cystic fibrosis [RCV001004301]|Cystic fibrosis [RCV001009383]|Hereditary pancreatitis [RCV004771455]|Obstructive azoospermia [RCV001642236]|ivacaftor response - Efficacy [RCV000660859]|not provided [RCV000724647] Chr7:117611650 [GRCh38]
Chr7:117251704 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|drug response|uncertain significance|not provided
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473142]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005042094]|CFTR-related disorder [RCV001826514]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001334484]|Cystic fibrosis [RCV000046895]|Cystic fibrosis [RCV001004498]|Cystic fibrosis [RCV001009365]|Male infertility [RCV001283745]|Obstructive azoospermia [RCV001642237]|ivacaftor response - Efficacy [RCV000660854]|not provided [RCV000325638] Chr7:117614699 [GRCh38]
Chr7:117254753 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|drug response|not provided
NM_000492.4(CFTR):c.3718-2473_3718-2472insCAGAGT insertion Bronchiectasis with or without elevated sweat chloride 1 [RCV002482912]|Cystic fibrosis [RCV001272364]|Hereditary pancreatitis [RCV000029531]|not provided [RCV004998108] Chr7:117639961..117639962 [GRCh38]
Chr7:117280015..117280016 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His) single nucleotide variant CFTR-related disorder [RCV004532409]|Cystic fibrosis [RCV000808411]|Hereditary pancreatitis [RCV002256007]|not provided [RCV000757090]|not specified [RCV000029537] Chr7:117664780 [GRCh38]
Chr7:117304834 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.4243-35del deletion Cystic fibrosis [RCV001514615]|Hereditary pancreatitis [RCV002256008]|not provided [RCV001283972]|not specified [RCV000506118] Chr7:117666872 [GRCh38]
Chr7:117306926 [GRCh37]
Chr7:7q31.2
benign|likely benign|uncertain significance
NM_000492.4(CFTR):c.350G>A (p.Arg117His) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763151]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473001]|CFTR-related disorder [RCV001009478]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV000007529]|Cystic fibrosis [RCV000007528]|Cystic fibrosis [RCV000826137]|Obstructive azoospermia [RCV001642199]|Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis [RCV004018585]|ivacaftor response - Efficacy [RCV000417156]|not provided [RCV000078997] Chr7:117530975 [GRCh38]
Chr7:117171029 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|drug response
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005031410]|CFTR-related disorder [RCV001158873]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV000007584]|Cystic fibrosis [RCV000046985]|Hereditary pancreatitis [RCV000176372]|not provided [RCV000587433]|not specified [RCV000480239] Chr7:117642528 [GRCh38]
Chr7:117282582 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|drug response|uncertain significance|not provided
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005031411]|CFTR-related disorder [RCV001009484]|Chronic sinusitis [RCV000582695]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV000007585]|Cystic fibrosis [RCV000029486]|Lung disease, non-specific [RCV000584175]|not provided [RCV000078981]|not specified [RCV000155472] Chr7:117590400 [GRCh38]
Chr7:117230454 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.3(CFTR):c.1210-12_1210-6T[5] microsatellite Bronchiectasis with or without elevated sweat chloride 1, modifier of [RCV000007610]|Congenital bilateral absence of the vas deferens [RCV000007609]|Cystic fibrosis [RCV000173692]|Hereditary pancreatitis [RCV000348683]|not provided [RCV000405075]|not specified [RCV000155619] Chr7:117548629..117548635 [GRCh38]
Chr7:117188683..117188689 [GRCh37]
Chr7:7q31.2
pathogenic|risk factor|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473045]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031414]|CFTR-related disorder [RCV001826450]|Cystic fibrosis [RCV000590108]|Cystic fibrosis [RCV001004310]|Sweat chloride elevation without cystic fibrosis [RCV000007644]|not provided [RCV001781201] Chr7:117667029 [GRCh38]
Chr7:117307083 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005031415]|CFTR-related disorder [RCV001009470]|Cystic fibrosis [RCV000046745]|Hypertrypsinemia, neonatal, susceptibility to [RCV000007651]|Infertility disorder [RCV001327946]|Obstructive azoospermia [RCV001642202]|Pancreatitis [RCV000583195]|Pancreatitis, idiopathic, susceptibility to [RCV000007650]|not provided [RCV000078991]|not specified [RCV000243402] Chr7:117610521 [GRCh38]
Chr7:117250575 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|risk factor|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.4256A>T (p.Asn1419Ile) single nucleotide variant CFTR-related disorder [RCV001834986]|Cystic fibrosis [RCV000630458] Chr7:117666921 [GRCh38]
Chr7:117306975 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.13:g.(?_117120143)_(117149202_?)dup duplication Cystic fibrosis [RCV000630469] Chr7:117480089..117509148 [GRCh38]
Chr7:117120143..117149202 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.137C>T (p.Ala46Val) single nucleotide variant Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001592932]|Cystic fibrosis [RCV000757789]|not provided [RCV000728272]|not specified [RCV000780112] Chr7:117504336 [GRCh38]
Chr7:117144390 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1149G>A (p.Leu383=) single nucleotide variant not provided [RCV000729549] Chr7:117542048 [GRCh38]
Chr7:117182102 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2145A>C (p.Gln715His) single nucleotide variant CFTR-related disorder [RCV001830598]|Cystic fibrosis [RCV001785711]|not provided [RCV000728431]|not specified [RCV001194338] Chr7:117592312 [GRCh38]
Chr7:117232366 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3665G>A (p.Gly1222Asp) single nucleotide variant not provided [RCV000729099] Chr7:117627718 [GRCh38]
Chr7:117267772 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2372_2377del (p.Thr791_Arg792del) deletion not provided [RCV000728710] Chr7:117592538..117592543 [GRCh38]
Chr7:117232592..117232597 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3873+7A>T single nucleotide variant Cystic fibrosis [RCV002535118]|not provided [RCV000729377] Chr7:117642600 [GRCh38]
Chr7:117282654 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.4277C>T (p.Ser1426Phe) single nucleotide variant CFTR-related disorder [RCV001834716]|Cystic fibrosis [RCV000527777]|not provided [RCV001508591]|not specified [RCV000780111] Chr7:117666942 [GRCh38]
Chr7:117306996 [GRCh37]
Chr7:7q31.2
drug response|uncertain significance
NM_000492.4(CFTR):c.2463_2464del (p.Ser821fs) deletion CFTR-related disorder [RCV001834714]|Cystic fibrosis [RCV000551959] Chr7:117592629..117592630 [GRCh38]
Chr7:117232683..117232684 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.406C>T (p.Leu136=) single nucleotide variant CFTR-related disorder [RCV004735594]|Cystic fibrosis [RCV000543985] Chr7:117531031 [GRCh38]
Chr7:117171085 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1810A>C (p.Thr604Pro) single nucleotide variant Cystic fibrosis [RCV000551478] Chr7:117591977 [GRCh38]
Chr7:117232031 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3259G>C (p.Ala1087Pro) single nucleotide variant Cystic fibrosis [RCV002284491]|not provided [RCV001508222] Chr7:117611700 [GRCh38]
Chr7:117251754 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.2475C>T (p.Asn825=) single nucleotide variant Cystic fibrosis [RCV001087527]|not provided [RCV000759037]|not specified [RCV001001352] Chr7:117592642 [GRCh38]
Chr7:117232696 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.175dup (p.Arg59fs) duplication Bronchiectasis with or without elevated sweat chloride 1 [RCV003465285]|CFTR-related disorder [RCV001834826]|Cystic fibrosis [RCV000046458] Chr7:117509043..117509044 [GRCh38]
Chr7:117149097..117149098 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2601dup (p.Val868fs) duplication Bronchiectasis with or without elevated sweat chloride 1 [RCV003471916]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005034147]|CFTR-related disorder [RCV001829610]|Cystic fibrosis [RCV000046631] Chr7:117595039..117595040 [GRCh38]
Chr7:117235093..117235094 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.4086dup (p.Lys1363Ter) duplication CFTR-related disorder [RCV001829611]|Cystic fibrosis [RCV000047069] Chr7:117664809..117664810 [GRCh38]
Chr7:117304863..117304864 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1211del deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003471912]|Cystic fibrosis [RCV000576433]|not provided [RCV000985673] Chr7:117548640 [GRCh38]
Chr7:117188694 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.717del (p.Gly239_Leu240insTer) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003471913]|Cystic fibrosis [RCV000576798] Chr7:117535383 [GRCh38]
Chr7:117175437 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.4127_4131del (p.Leu1376fs) deletion Cystic fibrosis [RCV000576801] Chr7:117664850..117664854 [GRCh38]
Chr7:117304904..117304908 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp) single nucleotide variant CFTR-related disorder [RCV004532406]|Cystic fibrosis [RCV000029469]|not provided [RCV000727191]|not specified [RCV000506190] Chr7:117540284 [GRCh38]
Chr7:117180338 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.114C>G (p.Tyr38Ter) single nucleotide variant Cystic fibrosis [RCV000029470] Chr7:117504313 [GRCh38]
Chr7:117144367 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1209+18A>C single nucleotide variant Cystic fibrosis [RCV000029471] Chr7:117542126 [GRCh38]
Chr7:117182180 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002482908]|CFTR-related disorder [RCV001161750]|Cystic fibrosis [RCV000029472]|not provided [RCV000586035]|not specified [RCV001268981] Chr7:117504324 [GRCh38]
Chr7:117144378 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance
NM_000492.4(CFTR):c.1365G>A (p.Ala455=) single nucleotide variant CFTR-related disorder [RCV001161865]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001588827]|Cystic fibrosis [RCV001085484]|Hereditary pancreatitis [RCV002256002]|not provided [RCV000588680]|not specified [RCV000245016] Chr7:117548796 [GRCh38]
Chr7:117188850 [GRCh37]
Chr7:7q31.2
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763570]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473123]|CFTR-related disorder [RCV004734530]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001331274]|Cystic fibrosis [RCV000029474]|Cystic fibrosis [RCV001004447]|Cystic fibrosis [RCV001009542]|not provided [RCV000731635]|not specified [RCV001001125] Chr7:117548798 [GRCh38]
Chr7:117188852 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473124]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005042089]|CFTR-related disorder [RCV001826510]|Cystic fibrosis [RCV000029475]|Cystic fibrosis [RCV001004451]|Obstructive azoospermia [RCV001642234]|not provided [RCV000724154] Chr7:117559468 [GRCh38]
Chr7:117199522 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002477011]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473125]|CFTR-related disorder [RCV001831607]|Cystic fibrosis [RCV000029476]|Cystic fibrosis [RCV001004452]|not provided [RCV000724155] Chr7:117559471 [GRCh38]
Chr7:117199525 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473126]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031456]|CFTR-related disorder [RCV004734531]|Cystic fibrosis [RCV000029477]|Cystic fibrosis [RCV001004225]|Cystic fibrosis [RCV002284179]|not provided [RCV000727666] Chr7:117480108 [GRCh38]
Chr7:117120162 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000492.4(CFTR):c.1584+12T>C single nucleotide variant CFTR-related disorder [RCV001163393]|Cystic fibrosis [RCV001414754]|not provided [RCV000985676]|not specified [RCV000250540] Chr7:117559667 [GRCh38]
Chr7:117199721 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1585-8G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473127]|CFTR-related disorder [RCV001826511]|Cystic fibrosis [RCV000029481]|not provided [RCV000759756] Chr7:117587731 [GRCh38]
Chr7:117227785 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1673T>C (p.Leu558Ser) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473128]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031458]|Cystic fibrosis [RCV000029483]|not provided [RCV001811199] Chr7:117587827 [GRCh38]
Chr7:117227881 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) single nucleotide variant CFTR-related disorder [RCV001163395]|Cystic fibrosis [RCV000029484]|Hereditary pancreatitis [RCV002256003]|not provided [RCV000587283]|not specified [RCV001526855] Chr7:117590357 [GRCh38]
Chr7:117230411 [GRCh37]
Chr7:7q31.2
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1692del (p.Asp565fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV002477012]|Cystic fibrosis [RCV000029485]|Cystic fibrosis [RCV001004267]|not provided [RCV000507024] Chr7:117590363 [GRCh38]
Chr7:117230417 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003466875]|Cystic fibrosis [RCV000029487]|not provided [RCV001508586]|not specified [RCV001420715] Chr7:117590404 [GRCh38]
Chr7:117230458 [GRCh37]
Chr7:7q31.2
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1911del (p.Gln637fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003473130]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005042090]|CFTR-related disorder [RCV001835637]|Cystic fibrosis [RCV000029489]|not provided [RCV004696640] Chr7:117592078 [GRCh38]
Chr7:117232132 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000515296]|CFTR-related disorder [RCV001009490]|Chronic sinusitis [RCV000582625]|Cystic fibrosis [RCV000029490]|Hereditary pancreatitis [RCV002256005]|Lung disease, non-specific [RCV000583839]|not provided [RCV000723382]|not specified [RCV000155473] Chr7:117592169 [GRCh38]
Chr7:117232223 [GRCh37]
Chr7:7q31.2
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003473131]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031459]|CFTR-related disorder [RCV001027915]|Cystic fibrosis [RCV000029491]|Cystic fibrosis [RCV001004281]|not provided [RCV001530162] Chr7:117592178 [GRCh38]
Chr7:117232232 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2051_2052delinsG (p.Lys684fs) indel Bronchiectasis with or without elevated sweat chloride 1 [RCV000763578]|Cystic fibrosis [RCV000029492]|not provided [RCV000506221] Chr7:117592218..117592219 [GRCh38]
Chr7:117232272..117232273 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2052dup (p.Gln685fs) duplication Bronchiectasis with or without elevated sweat chloride 1 [RCV003473132]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031460]|CFTR-related disorder [RCV001826512]|Cystic fibrosis [RCV000029493]|Cystic fibrosis [RCV001004283]|Inborn genetic diseases [RCV000624094]|See cases [RCV002251929]|not provided [RCV000152995] Chr7:117592212..117592213 [GRCh38]
Chr7:117232266..117232267 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) single nucleotide variant Abnormality of the pancreas [RCV001249413]|CFTR-related disorder [RCV001095213]|Cystic fibrosis [RCV000029494]|Hereditary pancreatitis [RCV000119039]|Lung disease, non-specific [RCV000582582]|not provided [RCV000513754]|not specified [RCV000116686] Chr7:117509093 [GRCh38]
Chr7:117149147 [GRCh37]
Chr7:7q31.2
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.2392C>T (p.Pro798Ser) single nucleotide variant CFTR-related disorder [RCV001831608]|Cystic fibrosis [RCV001339095]|not provided [RCV000587025]|not specified [RCV002222358] Chr7:117592559 [GRCh38]
Chr7:117232613 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2597G>A (p.Cys866Tyr) single nucleotide variant Cystic fibrosis [RCV000029498]|not provided [RCV000587525]|not specified [RCV001824576] Chr7:117595036 [GRCh38]
Chr7:117235090 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance
NM_000492.4(CFTR):c.2620-15C>G single nucleotide variant CFTR-related disorder [RCV001158764]|Cystic fibrosis [RCV000029499]|Hereditary pancreatitis [RCV002257362]|not provided [RCV000759758]|not specified [RCV000244736] Chr7:117602811 [GRCh38]
Chr7:117242865 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.273+10255del deletion not specified [RCV000029500] Chr7:117519395 [GRCh38]
Chr7:117159449 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.273+3A>C single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473133]|Cystic fibrosis [RCV000029501]|Cystic fibrosis [RCV001004421]|not provided [RCV003482230] Chr7:117509145 [GRCh38]
Chr7:117149199 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.2762G>A (p.Gly921Glu) single nucleotide variant CFTR-related disorder [RCV001826513]|Cystic fibrosis [RCV000029502]|not provided [RCV004760344] Chr7:117603636 [GRCh38]
Chr7:117243690 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2768C>A (p.Ala923Asp) single nucleotide variant Cystic fibrosis [RCV000029503] Chr7:117603642 [GRCh38]
Chr7:117243696 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.2810dup (p.Val938fs) duplication Bronchiectasis with or without elevated sweat chloride 1 [RCV003473134]|Cystic fibrosis [RCV000029504]|Cystic fibrosis [RCV001004488]|not provided [RCV000759760] Chr7:117603683..117603684 [GRCh38]
Chr7:117243737..117243738 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.2832G>A (p.Val944=) single nucleotide variant CFTR-related disorder [RCV004532407]|Cystic fibrosis [RCV000029506]|not provided [RCV001800315] Chr7:117603706 [GRCh38]
Chr7:117243760 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2835G>A (p.Ser945=) single nucleotide variant CFTR-related disorder [RCV001160120]|Cystic fibrosis [RCV000029507]|not specified [RCV001175334] Chr7:117603709 [GRCh38]
Chr7:117243763 [GRCh37]
Chr7:7q31.2
benign|likely benign|uncertain significance
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) single nucleotide variant CFTR-related disorder [RCV001095179]|Cystic fibrosis [RCV000029508]|not provided [RCV001529602]|not specified [RCV000152996] Chr7:117603772 [GRCh38]
Chr7:117243826 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473136]|Cystic fibrosis [RCV000029510] Chr7:117606697 [GRCh38]
Chr7:117246751 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.2988G>A (p.Gln996=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473137]|CFTR-related disorder [RCV001831609]|Cystic fibrosis [RCV000029512]|Cystic fibrosis [RCV001004284]|not provided [RCV000790775] Chr7:117606753 [GRCh38]
Chr7:117246807 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2989-2A>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003466876]|Cystic fibrosis [RCV000029513] Chr7:117610517 [GRCh38]
Chr7:117250571 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3038C>A (p.Pro1013His) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002482910]|CFTR-related disorder [RCV001835638]|Cystic fibrosis [RCV001241203]|not provided [RCV001811200] Chr7:117610568 [GRCh38]
Chr7:117250622 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) single nucleotide variant CFTR-related disorder [RCV001163494]|Cystic fibrosis [RCV000029515]|not provided [RCV000224628]|not specified [RCV000078993] Chr7:117610610 [GRCh38]
Chr7:117250664 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473138]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005042092]|CFTR-related disorder [RCV001009474]|Cystic fibrosis [RCV000029516]|Cystic fibrosis [RCV001004290]|Obstructive azoospermia [RCV001642235]|not provided [RCV000591587] Chr7:117610625 [GRCh38]
Chr7:117250679 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000492.4(CFTR):c.3139+18C>T single nucleotide variant Cystic fibrosis [RCV001009346]|not provided [RCV001311302]|not specified [RCV000507770] Chr7:117610687 [GRCh38]
Chr7:117250741 [GRCh37]
Chr7:7q31.2
benign|likely benign|uncertain significance
NM_000492.4(CFTR):c.3139+8A>G single nucleotide variant CFTR-related disorder [RCV004532408]|Cystic fibrosis [RCV000029518]|not provided [RCV003114205] Chr7:117610677 [GRCh38]
Chr7:117250731 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.3140-26A>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002482911]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473139]|CFTR-related disorder [RCV001831610]|Cystic fibrosis [RCV000029519]|Cystic fibrosis [RCV001004294]|Cystic fibrosis [RCV001009368]|not provided [RCV000724157]|not specified [RCV001000469] Chr7:117611555 [GRCh38]
Chr7:117251609 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3528del (p.Lys1177fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003473143]|CFTR-related disorder [RCV001831611]|Cystic fibrosis [RCV000029523]|Cystic fibrosis [RCV001004501]|not provided [RCV000723840] Chr7:117627580 [GRCh38]
Chr7:117267634 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=) single nucleotide variant CFTR-related disorder [RCV001163787]|Cystic fibrosis [RCV000029524]|not provided [RCV000726703]|not specified [RCV000253655] Chr7:117627611 [GRCh38]
Chr7:117267665 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.355A>G (p.Ile119Val) single nucleotide variant CFTR-related disorder [RCV001161755]|Cystic fibrosis [RCV000029525]|not provided [RCV000498090]|not specified [RCV000770760] Chr7:117530980 [GRCh38]
Chr7:117171034 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.3691del (p.Ser1231fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003473144]|Cystic fibrosis [RCV000029526] Chr7:117627742 [GRCh38]
Chr7:117267796 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) single nucleotide variant CFTR-related disorder [RCV001163789]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV003333727]|Cystic fibrosis [RCV000029527]|Hereditary pancreatitis [RCV001801912]|Obstructive azoospermia [RCV001642238]|not provided [RCV000755234]|not specified [RCV000079000] Chr7:117627758 [GRCh38]
Chr7:117267812 [GRCh37]
Chr7:7q31.2
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|no classifications from unflagged records
NM_000492.4(CFTR):c.370G>C (p.Gly124Arg) single nucleotide variant Cystic fibrosis [RCV000029528] Chr7:117530995 [GRCh38]
Chr7:117171049 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3717+130_3717+131del deletion not specified [RCV001731317] Chr7:117627900..117627901 [GRCh38]
Chr7:117267954..117267955 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.3717+5G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002496446]|CFTR-related disorder [RCV004724756]|Cystic fibrosis [RCV000029530]|Cystic fibrosis [RCV001004503] Chr7:117627775 [GRCh38]
Chr7:117267829 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.380_382dup (p.Leu127dup) duplication Cystic fibrosis [RCV000029532] Chr7:117531003..117531004 [GRCh38]
Chr7:117171057..117171058 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3893G>C (p.Gly1298Ala) single nucleotide variant Cystic fibrosis [RCV000029533] Chr7:117652861 [GRCh38]
Chr7:117292915 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance
NM_000492.4(CFTR):c.3957_3958insAGGG (p.Asp1320fs) insertion Cystic fibrosis [RCV000029534] Chr7:117652925..117652926 [GRCh38]
Chr7:117292979..117292980 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3997G>T (p.Gly1333Trp) single nucleotide variant Cystic fibrosis [RCV000029535] Chr7:117664721 [GRCh38]
Chr7:117304775 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002477013]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473145]|CFTR-related disorder [RCV001826515]|Cystic fibrosis [RCV000029536]|Hereditary pancreatitis [RCV002247398]|ivacaftor response - Efficacy [RCV000211255] Chr7:117664770 [GRCh38]
Chr7:117304824 [GRCh37]
Chr7:7q31.2
pathogenic|drug response
NM_000492.4(CFTR):c.4092G>A (p.Ala1364=) single nucleotide variant Cystic fibrosis [RCV000029538]|not specified [RCV001000017] Chr7:117664816 [GRCh38]
Chr7:117304870 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4242+2T>C single nucleotide variant Cystic fibrosis [RCV000029539] Chr7:117665566 [GRCh38]
Chr7:117305620 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.4280T>C (p.Ile1427Thr) single nucleotide variant Cystic fibrosis [RCV000029541] Chr7:117666945 [GRCh38]
Chr7:117306999 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.592G>A (p.Ala198Thr) single nucleotide variant Cystic fibrosis [RCV000029542]|not provided [RCV000593356]|not specified [RCV003234922] Chr7:117535260 [GRCh38]
Chr7:117175314 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.743+4G>T single nucleotide variant Cystic fibrosis [RCV000029543] Chr7:117535415 [GRCh38]
Chr7:117175469 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.744-33GATT[8] microsatellite Cystic fibrosis [RCV000029544]|not provided [RCV000759767]|not specified [RCV000243658] Chr7:117536514..117536515 [GRCh38]
Chr7:117176568..117176569 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473146]|CFTR-related disorder [RCV001831612]|Cystic fibrosis [RCV000029545]|Cystic fibrosis [RCV001004239] Chr7:117536629 [GRCh38]
Chr7:117176683 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.846A>T (p.Glu282Asp) single nucleotide variant CFTR-related disorder [RCV001826516]|Cystic fibrosis [RCV000796154]|not provided [RCV000726823]|not specified [RCV000506367] Chr7:117536650 [GRCh38]
Chr7:117176704 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002477014]|CFTR-related disorder [RCV004532410]|Cystic fibrosis [RCV000029547]|Hereditary pancreatitis [RCV002257363]|not provided [RCV002477015]|not specified [RCV000598331] Chr7:117536657 [GRCh38]
Chr7:117176711 [GRCh37]
Chr7:7q31.2
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000515170]|CFTR-related disorder [RCV001161749]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV003387730]|Cystic fibrosis [RCV000029548]|Hereditary pancreatitis [RCV001801914]|not provided [RCV000723380]|not specified [RCV000251973] Chr7:117504290 [GRCh38]
Chr7:117144344 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.958T>G (p.Leu320Val) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473147]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005042095]|CFTR-related disorder [RCV001165382]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001588829]|Cystic fibrosis [RCV000029549]|Hereditary pancreatitis [RCV001801915]|not provided [RCV000590210]|not specified [RCV001526859] Chr7:117540188 [GRCh38]
Chr7:117180242 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.997C>T (p.Leu333Phe) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002482913]|CFTR-related disorder [RCV001826517]|Cystic fibrosis [RCV002284355]|not provided [RCV001723586]|not specified [RCV000029550] Chr7:117540227 [GRCh38]
Chr7:117180281 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV002490332]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003444054]|Bronchiectasis with or without elevated sweat chloride 1, modifier of [RCV000007524]|CFTR-related disorder [RCV001831519]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV003227599]|Cystic fibrosis [RCV000007523]|Cystic fibrosis [RCV001004459]|Cystic fibrosis [RCV002243627]|Duodenal stenosis [RCV000626692]|Hereditary pancreatitis [RCV000119038]|Obstructive azoospermia [RCV001642198]|Recurrent pancreatitis [RCV000626693]|See cases [RCV002251888]|ivacaftor / lumacaftor response - Efficacy [RCV001787370]|ivacaftor / tezacaftor response - Efficacy [RCV001787371]|not provided [RCV000058929] Chr7:117559591..117559593 [GRCh38]
Chr7:117199645..117199647 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|risk factor|drug response
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del) microsatellite Bronchiectasis with or without elevated sweat chloride 1 [RCV002496293]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003472998]|CFTR-related disorder [RCV001826426]|Cystic fibrosis [RCV000007525]|Cystic fibrosis [RCV001004458]|not provided [RCV000224705]|not specified [RCV000780118] Chr7:117559587..117559589 [GRCh38]
Chr7:117199641..117199643 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002496294]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003472999]|CFTR-related disorder [RCV001835623]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV002288473]|Cystic fibrosis [RCV000007526]|Cystic fibrosis [RCV001004456]|not provided [RCV000727628] Chr7:117559548 [GRCh38]
Chr7:117199602 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.328G>C (p.Asp110His) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473000]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005042001]|CFTR-related disorder [RCV001835624]|Cystic fibrosis [RCV000007527]|Cystic fibrosis [RCV001004427]|Cystic fibrosis [RCV001009392]|Hereditary pancreatitis [RCV002247259]|ivacaftor response - Efficacy [RCV000660769]|not provided [RCV000058930]|not specified [RCV000780153] Chr7:117530953 [GRCh38]
Chr7:117171007 [GRCh37]
Chr7:7q31.2
pathogenic|drug response|not provided
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002504761]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473002]|CFTR-related disorder [RCV001831520]|Cystic fibrosis [RCV000007530]|Cystic fibrosis [RCV001004251]|not provided [RCV001530124] Chr7:117540270 [GRCh38]
Chr7:117180324 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763569]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473003]|CFTR-related disorder [RCV001826427]|Cystic fibrosis [RCV000007531]|Cystic fibrosis [RCV001004446]|ivacaftor response - Efficacy [RCV000660853]|not provided [RCV001530091] Chr7:117548795 [GRCh38]
Chr7:117188849 [GRCh37]
Chr7:7q31.2
pathogenic|drug response
NM_000492.4(CFTR):c.1585-1G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002496295]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473004]|CFTR-related disorder [RCV001027893]|Cystic fibrosis [RCV000007532]|Cystic fibrosis [RCV001004462]|not provided [RCV000224919] Chr7:117587738 [GRCh38]
Chr7:117227792 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002504762]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473005]|CFTR-related disorder [RCV001831521]|Cystic fibrosis [RCV000007533]|Cystic fibrosis [RCV001004262]|not provided [RCV000224789]|not specified [RCV000780134] Chr7:117587833 [GRCh38]
Chr7:117227887 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1687T>A (p.Tyr563Asn) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566688]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005042002]|CFTR-related disorder [RCV004734501]|Cystic fibrosis [RCV000007534]|Cystic fibrosis [RCV001004266]|Cystic fibrosis [RCV001009533]|not provided [RCV002254258] Chr7:117590360 [GRCh38]
Chr7:117230414 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763572]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473006]|CFTR-related disorder [RCV001826428]|Cystic fibrosis [RCV000007535]|Cystic fibrosis [RCV001004463]|Hereditary pancreatitis [RCV000119041]|not provided [RCV000058931] Chr7:117587778 [GRCh38]
Chr7:117227832 [GRCh37]
Chr7:7q31.2
pathogenic|drug response|not provided
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002496296]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473007]|CFTR-related disorder [RCV001831522]|Cystic fibrosis [RCV000007536]|Cystic fibrosis [RCV001004465]|Hereditary pancreatitis [RCV002247260]|ivacaftor response - Efficacy [RCV000211264]|not provided [RCV000727629] Chr7:117587800 [GRCh38]
Chr7:117227854 [GRCh37]
Chr7:7q31.2
pathogenic|drug response
NM_000492.4(CFTR):c.1646G>T (p.Ser549Ile) single nucleotide variant Cystic fibrosis [RCV000007537] Chr7:117587800 [GRCh38]
Chr7:117227854 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1721C>A (p.Pro574His) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002490333]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473008]|CFTR-related disorder [RCV001831523]|Cystic fibrosis [RCV000007539]|Cystic fibrosis [RCV001004269]|Cystic fibrosis [RCV001009367]|not provided [RCV002254259] Chr7:117590394 [GRCh38]
Chr7:117230448 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000492.3(CFTR):c.2421_2422dupAT (p.Ser809Ilefs) duplication Cystic fibrosis [RCV000007541] Chr7:117592588..117592589 [GRCh38]
Chr7:117232642..117232643 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763575]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003137499]|CFTR-related disorder [RCV001831525]|Cystic fibrosis [RCV000007542]|Cystic fibrosis [RCV001004260]|not provided [RCV000506601]|not specified [RCV000781237] Chr7:117587811 [GRCh38]
Chr7:117227865 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002476941]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473010]|CFTR-related disorder [RCV001826429]|Cystic fibrosis [RCV000007543]|Cystic fibrosis [RCV001004261]|not provided [RCV000521321] Chr7:117587829 [GRCh38]
Chr7:117227883 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3659del (p.Thr1220fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003473011]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031406]|CFTR-related disorder [RCV001831526]|Cystic fibrosis [RCV000007544]|Cystic fibrosis [RCV001004502]|not provided [RCV004558238] Chr7:117627712 [GRCh38]
Chr7:117267766 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3764C>A (p.Ser1255Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473012]|CFTR-related disorder [RCV001831527]|Cystic fibrosis [RCV000007545]|not provided [RCV001810834]|not specified [RCV000781247] Chr7:117642484 [GRCh38]
Chr7:117282538 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) single nucleotide variant CFTR-related disorder [RCV001009496]|Cystic fibrosis [RCV000007546]|Hereditary pancreatitis [RCV002255993]|Infertility disorder [RCV001327947]|Obstructive azoospermia [RCV001642200]|not provided [RCV001281707]|not specified [RCV000078978] Chr7:117559594 [GRCh38]
Chr7:117199648 [GRCh37]
Chr7:7q31.2
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.2538G>A (p.Trp846Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566689]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005042003]|CFTR-related disorder [RCV001826430]|Cystic fibrosis [RCV000007547]|Cystic fibrosis [RCV001004480] Chr7:117594977 [GRCh38]
Chr7:117235031 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566690]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031407]|Cystic fibrosis [RCV000007548]|Cystic fibrosis [RCV001004485] Chr7:117603612 [GRCh38]
Chr7:117243666 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763161]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473013]|CFTR-related disorder [RCV002228015]|Cystic fibrosis [RCV000007549]|Cystic fibrosis [RCV001004509]|Hereditary pancreatitis [RCV002255994]|not provided [RCV000271658]|not specified [RCV000780159] Chr7:117642566 [GRCh38]
Chr7:117282620 [GRCh37]
Chr7:7q31.2
pathogenic|drug response
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) single nucleotide variant CFTR-related disorder [RCV001095216]|Cystic fibrosis [RCV000007550]|not provided [RCV001810835]|not specified [RCV000036517] Chr7:117559479 [GRCh38]
Chr7:117199533 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val) single nucleotide variant Cystic fibrosis [RCV000007551]|Hereditary pancreatitis [RCV001282755]|not provided [RCV000759754]|not specified [RCV000245320] Chr7:117559587 [GRCh38]
Chr7:117199641 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1373G>T (p.Gly458Val) single nucleotide variant Cystic fibrosis [RCV000007552] Chr7:117548804 [GRCh38]
Chr7:117188858 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|uncertain significance
NM_000492.4(CFTR):c.3947G>A (p.Trp1316Ter) single nucleotide variant Cystic fibrosis [RCV000007553] Chr7:117652915 [GRCh38]
Chr7:117292969 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs) microsatellite Bronchiectasis with or without elevated sweat chloride 1 [RCV003473014]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031408]|CFTR-related disorder [RCV001831528]|Cystic fibrosis [RCV000007554]|Cystic fibrosis [RCV001004249]|not provided [RCV000723429]|not specified [RCV000780169] Chr7:117540248..117540249 [GRCh38]
Chr7:117180302..117180303 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1081del (p.Trp361fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003466826]|CFTR-related disorder [RCV001831529]|Cystic fibrosis [RCV000007555]|Cystic fibrosis [RCV001009522] Chr7:117540311 [GRCh38]
Chr7:117180365 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473015]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005042004]|CFTR-related disorder [RCV001831530]|Cystic fibrosis [RCV000007556]|Cystic fibrosis [RCV001004513]|Hereditary pancreatitis [RCV002255995]|Spermatogenic failure, Y-linked, 2 [RCV002287325]|not provided [RCV000224445] Chr7:117652877 [GRCh38]
Chr7:117292931 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002504763]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473016]|CFTR-related disorder [RCV001831531]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV004720229]|Cystic fibrosis [RCV000007557]|Cystic fibrosis [RCV001004500]|not provided [RCV000508142]|not specified [RCV000780138] Chr7:117627537 [GRCh38]
Chr7:117267591 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3717+4A>G single nucleotide variant Cystic fibrosis [RCV000007558] Chr7:117627774 [GRCh38]
Chr7:117267828 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763567]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473017]|CFTR-related disorder [RCV001826431]|Cystic fibrosis [RCV000007559]|Cystic fibrosis [RCV001004246]|not provided [RCV000224060]|not specified [RCV001000033] Chr7:117540230 [GRCh38]
Chr7:117180284 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1545_1546del (p.Tyr515_Arg516delinsTer) microsatellite Abnormality of metabolism/homeostasis [RCV001813963]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473018]|CFTR-related disorder [RCV001826432]|Cystic fibrosis [RCV000007560]|not provided [RCV001528991] Chr7:117559613..117559614 [GRCh38]
Chr7:117199667..117199668 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473019]|CFTR-related disorder [RCV001831532]|Cystic fibrosis [RCV000007561]|Cystic fibrosis [RCV001004481]|not provided [RCV002476942] Chr7:117594990 [GRCh38]
Chr7:117235044 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473020]|CFTR-related disorder [RCV001831533]|Cystic fibrosis [RCV000007562]|Hereditary pancreatitis [RCV002247261]|ivacaftor response - Efficacy [RCV000211256]|not provided [RCV000224595] Chr7:117587805 [GRCh38]
Chr7:117227859 [GRCh37]
Chr7:7q31.2
pathogenic|drug response
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002490334]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473021]|CFTR-related disorder [RCV001831534]|Cystic fibrosis [RCV000007563]|Cystic fibrosis [RCV001004234]|not provided [RCV000224170] Chr7:117509123 [GRCh38]
Chr7:117149177 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763158]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473022]|CFTR-related disorder [RCV001831535]|Cystic fibrosis [RCV000007564]|Cystic fibrosis [RCV001004499]|not provided [RCV000579152] Chr7:117627525 [GRCh38]
Chr7:117267579 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.723_743+1del deletion CFTR-related disorder [RCV001826433]|Cystic fibrosis [RCV000007565] Chr7:117535388..117535409 [GRCh38]
Chr7:117175442..117175463 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.424del (p.Ile142fs) deletion CFTR-related disorder [RCV001826434]|Cystic fibrosis [RCV000007566] Chr7:117531049 [GRCh38]
Chr7:117171103 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.429del (p.Phe143fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV005031409]|CFTR-related disorder [RCV001831536]|Cystic fibrosis [RCV000007567] Chr7:117531050 [GRCh38]
Chr7:117171104 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3(CFTR):c.1817_1900del84 (p.Met607_Gln634del) deletion Cystic fibrosis [RCV000007568] Chr7:117591984..117592067 [GRCh38]
Chr7:117232038..117232121 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2737_2738insG (p.Tyr913Ter) insertion Bronchiectasis with or without elevated sweat chloride 1 [RCV002490335]|CFTR-related disorder [RCV001826435]|Cystic fibrosis [RCV000007569] Chr7:117603611..117603612 [GRCh38]
Chr7:117243665..117243666 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1558G>T (p.Val520Phe) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473023]|CFTR-related disorder [RCV001826436]|Cystic fibrosis [RCV000007570]|Cystic fibrosis [RCV001004460]|not provided [RCV001528232]|not specified [RCV000781233] Chr7:117559629 [GRCh38]
Chr7:117199683 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003466827]|CFTR-related disorder [RCV001831537]|Cystic fibrosis [RCV000007571] Chr7:117559643 [GRCh38]
Chr7:117199697 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473024]|CFTR-related disorder [RCV002228016]|Cystic fibrosis [RCV000007572]|not specified [RCV000780123] Chr7:117642593 [GRCh38]
Chr7:117282647 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.933C>G (p.Phe311Leu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473025]|Cystic fibrosis [RCV000007573]|Obstructive azoospermia [RCV001642201] Chr7:117540163 [GRCh38]
Chr7:117180217 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1093_1094del (p.Leu365fs) microsatellite Bronchiectasis with or without elevated sweat chloride 1 [RCV003473026]|Cystic fibrosis [RCV000007574] Chr7:117540319..117540320 [GRCh38]
Chr7:117180373..117180374 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763571]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473027]|CFTR-related disorder [RCV004734502]|Cystic fibrosis [RCV000007575]|Cystic fibrosis [RCV001004455]|not provided [RCV001810836] Chr7:117559546 [GRCh38]
Chr7:117199600 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003466828]|Cystic fibrosis [RCV000007576] Chr7:117587833 [GRCh38]
Chr7:117227887 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2479G>T (p.Glu827Ter) single nucleotide variant Cystic fibrosis [RCV000007577] Chr7:117592646 [GRCh38]
Chr7:117232700 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002496297]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473028]|CFTR-related disorder [RCV001831538]|Cystic fibrosis [RCV000007578]|Cystic fibrosis [RCV001004299]|not provided [RCV000592350]|not specified [RCV000506781] Chr7:117611638 [GRCh38]
Chr7:117251692 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr) single nucleotide variant CFTR-related disorder [RCV001831539]|Cystic fibrosis [RCV000007579]|ivacaftor response - Efficacy [RCV000660774]|not provided [RCV000723610]|not specified [RCV000078995] Chr7:117611640 [GRCh38]
Chr7:117251694 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|drug response|uncertain significance
NM_000492.4(CFTR):c.3873+1G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002496298]|CFTR-related disorder [RCV001831540]|Cystic fibrosis [RCV000007580]|Cystic fibrosis [RCV001004510]|not provided [RCV003736536] Chr7:117642594 [GRCh38]
Chr7:117282648 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3184_3188dup (p.Trp1063fs) duplication Cystic fibrosis [RCV000007581] Chr7:117611624..117611625 [GRCh38]
Chr7:117251678..117251679 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002496299]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473029]|CFTR-related disorder [RCV001831541]|Cystic fibrosis [RCV000007582]|Cystic fibrosis [RCV001004298]|not provided [RCV000723839]|not specified [RCV001001063] Chr7:117611637 [GRCh38]
Chr7:117251691 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.948del (p.Phe316fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003473030]|CFTR-related disorder [RCV001826437]|Cystic fibrosis [RCV000007583]|not provided [RCV000079016] Chr7:117540176 [GRCh38]
Chr7:117180230 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3(CFTR):c.3718-2477C>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763159]|CFTR-related disorder [RCV001826438]|Cystic fibrosis [RCV000007586]|Cystic fibrosis [RCV001009390]|Hereditary pancreatitis [RCV002257359]|not provided [RCV000727872]|not specified [RCV000507372] Chr7:117639961 [GRCh38]
Chr7:117280015 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3848G>T (p.Arg1283Met) single nucleotide variant CFTR-related disorder [RCV001831542]|Cystic fibrosis [RCV000007587] Chr7:117642568 [GRCh38]
Chr7:117282622 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1766+1G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002496300]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473031]|CFTR-related disorder [RCV001027908]|Cystic fibrosis [RCV000007588]|Cystic fibrosis [RCV001004273]|not provided [RCV000985681]|not specified [RCV001002343] Chr7:117590440 [GRCh38]
Chr7:117230494 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.744-14_744-3del deletion Cystic fibrosis [RCV000007590] Chr7:117536534..117536545 [GRCh38]
Chr7:117176588..117176599 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1040G>T (p.Arg347Leu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003466829]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031412]|Cystic fibrosis [RCV000007591]|Cystic fibrosis [RCV001004252] Chr7:117540270 [GRCh38]
Chr7:117180324 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003466830]|Cystic fibrosis [RCV000007592]|Cystic fibrosis [RCV001004253]|Hereditary pancreatitis [RCV002247263]|not provided [RCV000728852]|not specified [RCV000780115] Chr7:117540276 [GRCh38]
Chr7:117180330 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002482841]|CFTR-related disorder [RCV001831543]|Cystic fibrosis [RCV000007593]|not provided [RCV000755924]|not specified [RCV003234896] Chr7:117587755 [GRCh38]
Chr7:117227809 [GRCh37]
Chr7:7q31.2
pathogenic|uncertain significance
NM_000492.4(CFTR):c.2146A>T (p.Lys716Ter) single nucleotide variant Cystic fibrosis [RCV000007594] Chr7:117592313 [GRCh38]
Chr7:117232367 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2490+1G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005031413]|CFTR-related disorder [RCV001826439]|Cystic fibrosis [RCV000007595]|not provided [RCV001509317] Chr7:117592658 [GRCh38]
Chr7:117232712 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3712C>T (p.Gln1238Ter) single nucleotide variant Cystic fibrosis [RCV000007596] Chr7:117627765 [GRCh38]
Chr7:117267819 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000492.4(CFTR):c.3718-1G>A single nucleotide variant CFTR-related disorder [RCV001831544]|Cystic fibrosis [RCV000007597]|Cystic fibrosis [RCV003996079] Chr7:117642437 [GRCh38]
Chr7:117282491 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3767dup (p.Leu1258fs) duplication Cystic fibrosis [RCV000007598] Chr7:117642486..117642487 [GRCh38]
Chr7:117282540..117282541 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.171G>A (p.Trp57Ter) single nucleotide variant CFTR-related disorder [RCV001826440]|Cystic fibrosis [RCV000007599] Chr7:117509040 [GRCh38]
Chr7:117149094 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3937C>T (p.Gln1313Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473032]|CFTR-related disorder [RCV001826441]|Cystic fibrosis [RCV000007600] Chr7:117652905 [GRCh38]
Chr7:117292959 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.274G>A (p.Glu92Lys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473033]|CFTR-related disorder [RCV001831545]|Cystic fibrosis [RCV000007601]|Cystic fibrosis [RCV001009395]|not provided [RCV001093484] Chr7:117530899 [GRCh38]
Chr7:117170953 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.271G>A (p.Gly91Arg) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566691]|CFTR-related disorder [RCV001831546]|Cystic fibrosis [RCV000007603] Chr7:117509140 [GRCh38]
Chr7:117149194 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3857T>C (p.Phe1286Ser) single nucleotide variant Cystic fibrosis [RCV000007604] Chr7:117642577 [GRCh38]
Chr7:117282631 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473036]|CFTR-related disorder [RCV001826443]|Cystic fibrosis [RCV000007606]|Cystic fibrosis [RCV001004423]|Cystic fibrosis [RCV001009515] Chr7:117530899 [GRCh38]
Chr7:117170953 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566692]|Cystic fibrosis [RCV000007607]|Cystic fibrosis [RCV001004453]|not provided [RCV000790782] Chr7:117559509 [GRCh38]
Chr7:117199563 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000492.4(CFTR):c.459_476del (p.Ala155_Ile160del) deletion Cystic fibrosis [RCV000007608] Chr7:117531084..117531101 [GRCh38]
Chr7:117171138..117171155 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763156]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473037]|CFTR-related disorder [RCV001831547]|Cystic fibrosis [RCV000007611]|Cystic fibrosis [RCV001004443]|Cystic fibrosis [RCV001009388]|ivacaftor response - Efficacy [RCV000660772]|not provided [RCV000079011] Chr7:117535285 [GRCh38]
Chr7:117175339 [GRCh37]
Chr7:7q31.2
pathogenic|drug response
CFTR, GLN524HIS single nucleotide variant Cystic fibrosis [RCV000007612] Chr7:7q31.2 pathogenic
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro) single nucleotide variant Cystic fibrosis [RCV000007613]|Hereditary pancreatitis [RCV002247264]|ivacaftor response - Efficacy [RCV001787320] Chr7:117642483 [GRCh38]
Chr7:117282537 [GRCh37]
Chr7:7q31.2
pathogenic|drug response
NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473038]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005042006]|CFTR-related disorder [RCV001009472]|Cystic fibrosis [RCV000007614]|not provided [RCV001269654]|not specified [RCV000506655] Chr7:117540243 [GRCh38]
Chr7:117180297 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763581]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473039]|CFTR-related disorder [RCV001027902]|Cystic fibrosis [RCV000007615]|Cystic fibrosis [RCV001004304]|not provided [RCV000507617] Chr7:117611707 [GRCh38]
Chr7:117251761 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3(CFTR):c.3878_3881delTATT (p.Ile1295Phefs) deletion Cystic fibrosis [RCV000007616] Chr7:117652846..117652849 [GRCh38]
Chr7:117292900..117292903 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.326A>G (p.Tyr109Cys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473040]|Cystic fibrosis [RCV000007618] Chr7:117530951 [GRCh38]
Chr7:117171005 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763568]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473041]|CFTR-related disorder [RCV001826444]|Cystic fibrosis [RCV000007619]|Cystic fibrosis [RCV001004254]|ivacaftor response - Efficacy [RCV000660773]|not provided [RCV000985669] Chr7:117540285 [GRCh38]
Chr7:117180339 [GRCh37]
Chr7:7q31.2
pathogenic|drug response
NM_000492.4(CFTR):c.273+4A>G single nucleotide variant CFTR-related disorder [RCV001831548]|Cystic fibrosis [RCV000007620]|not provided [RCV001753408]|not specified [RCV002281699] Chr7:117509146 [GRCh38]
Chr7:117149200 [GRCh37]
Chr7:7q31.2
pathogenic|uncertain significance
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473042]|CFTR-related disorder [RCV001826445]|Cystic fibrosis [RCV000007622] Chr7:117587808 [GRCh38]
Chr7:117227862 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1943A>T (p.Asp648Val) single nucleotide variant Cystic fibrosis [RCV000007623] Chr7:117592110 [GRCh38]
Chr7:117232164 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2128A>T (p.Lys710Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473043]|CFTR-related disorder [RCV001826446]|Cystic fibrosis [RCV000007624]|Cystic fibrosis [RCV001004470]|not provided [RCV000759034] Chr7:117592295 [GRCh38]
Chr7:117232349 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2668C>T (p.Gln890Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473044]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005042007]|CFTR-related disorder [RCV001831549]|Cystic fibrosis [RCV000007625]|not provided [RCV000505859] Chr7:117603542 [GRCh38]
Chr7:117243596 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) single nucleotide variant CFTR-related disorder [RCV001158768]|Cystic fibrosis [RCV000007626]|Hereditary pancreatitis [RCV002255257]|not provided [RCV000586236]|not specified [RCV000506704] Chr7:117603609 [GRCh38]
Chr7:117243663 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.805_806del (p.Ile269fs) microsatellite Cystic fibrosis [RCV000007627] Chr7:117536607..117536608 [GRCh38]
Chr7:117176661..117176662 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2845C>T (p.His949Tyr) single nucleotide variant Cystic fibrosis [RCV000007628]|not specified [RCV003330386] Chr7:117603719 [GRCh38]
Chr7:117243773 [GRCh37]
Chr7:7q31.2
pathogenic|uncertain significance
NM_000492.4(CFTR):c.3194T>C (p.Leu1065Pro) single nucleotide variant CFTR-related disorder [RCV001831550]|Cystic fibrosis [RCV000007629]|Cystic fibrosis [RCV001004297]|not provided [RCV000311326] Chr7:117611635 [GRCh38]
Chr7:117251689 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3212A>C (p.Gln1071Pro) single nucleotide variant Cystic fibrosis [RCV000007630] Chr7:117611653 [GRCh38]
Chr7:117251707 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3254A>G (p.His1085Arg) single nucleotide variant Cystic fibrosis [RCV000007631] Chr7:117611695 [GRCh38]
Chr7:117251749 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_000492.4(CFTR):c.3611G>A (p.Trp1204Ter) single nucleotide variant CFTR-related disorder [RCV001831552]|Cystic fibrosis [RCV000007633] Chr7:117627664 [GRCh38]
Chr7:117267718 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1083del (p.Trp361fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003466831]|Cystic fibrosis [RCV000007634]|not provided [RCV000727368] Chr7:117540312 [GRCh38]
Chr7:117180366 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile) single nucleotide variant CFTR-related disorder [RCV004528090]|Cystic fibrosis [RCV000007635]|not provided [RCV000589624]|not specified [RCV003230350] Chr7:117627712 [GRCh38]
Chr7:117267766 [GRCh37]
Chr7:7q31.2
pathogenic|uncertain significance
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566693]|CFTR-related disorder [RCV001831553]|Cystic fibrosis [RCV000007636]|not provided [RCV001269696] Chr7:117627753 [GRCh38]
Chr7:117267807 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu) single nucleotide variant Cystic fibrosis [RCV000007637] Chr7:117642466 [GRCh38]
Chr7:117282520 [GRCh37]
Chr7:7q31.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003466832]|CFTR-related disorder [RCV001826447]|Cystic fibrosis [RCV000007638]|ivacaftor response - Efficacy [RCV000211301]|not provided [RCV000506301]|not specified [RCV000780175] Chr7:117642472 [GRCh38]
Chr7:117282526 [GRCh37]
Chr7:7q31.2
pathogenic|drug response
NM_000492.4(CFTR):c.3907A>C (p.Asn1303His) single nucleotide variant Cystic fibrosis [RCV000007639] Chr7:117652875 [GRCh38]
Chr7:117292929 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1477_1478del (p.Gln493fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV002496301]|CFTR-related disorder [RCV001826448]|Cystic fibrosis [RCV000007640] Chr7:117559548..117559549 [GRCh38]
Chr7:117199602..117199603 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2291del (p.Arg764fs) deletion Cystic fibrosis [RCV000007641] Chr7:117592458 [GRCh38]
Chr7:117232512 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3161del (p.His1054fs) deletion Cystic fibrosis [RCV000007642]|not provided [RCV000506268] Chr7:117611602 [GRCh38]
Chr7:117251656 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3532_3535dup (p.Thr1179fs) duplication CFTR-related disorder [RCV001826449]|Cystic fibrosis [RCV000007643] Chr7:117627584..117627585 [GRCh38]
Chr7:117267638..117267639 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2988+1G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763580]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473046]|CFTR-related disorder [RCV001027899]|Cystic fibrosis [RCV000007645]|Cystic fibrosis [RCV001004285]|not provided [RCV000759761] Chr7:117606754 [GRCh38]
Chr7:117246808 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1658G>A (p.Arg553Gln) single nucleotide variant Cystic fibrosis [RCV000007646]|not specified [RCV004799734] Chr7:117587812 [GRCh38]
Chr7:117227866 [GRCh37]
Chr7:7q31.2
pathogenic|uncertain significance
NM_000492.3(CFTR):c.-102A= single nucleotide variant Cystic fibrosis [RCV000007647] Chr7:117479993 [GRCh38]
Chr7:117120047 [GRCh37]
Chr7:7q31.2
pathogenic
NG_016465.3:g.(37526_37529)_(58606_58609)del deletion Cystic fibrosis [RCV000007648] Chr7:117498309..117519392 [GRCh38]
Chr7:117138363..117159446 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3469-20T>C single nucleotide variant CFTR-related disorder [RCV004734503]|Cystic fibrosis [RCV000007649]|Hereditary pancreatitis [RCV002255258]|not provided [RCV001810837]|not specified [RCV000595140] Chr7:117627502 [GRCh38]
Chr7:117267556 [GRCh37]
Chr7:7q31.2
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.3492dup (p.Lys1165Ter) duplication Bronchiectasis with or without elevated sweat chloride 1 [RCV003473047]|Cystic fibrosis [RCV000007652] Chr7:117627542..117627543 [GRCh38]
Chr7:117267596..117267597 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3744del (p.Lys1250fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003473048]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031416]|CFTR-related disorder [RCV001831554]|Cystic fibrosis [RCV000007653]|Cystic fibrosis [RCV001004505]|not provided [RCV000755920] Chr7:117642464 [GRCh38]
Chr7:117282518 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.262_263del (p.Leu88fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV002496302]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473049]|CFTR-related disorder [RCV001835625]|Cystic fibrosis [RCV000007654]|Cystic fibrosis [RCV001004235]|not provided [RCV001269534]|not specified [RCV000506648] Chr7:117509128..117509129 [GRCh38]
Chr7:117149182..117149183 [GRCh37]
Chr7:7q31.2
pathogenic
CFTR, HIS1282TER variation Cystic fibrosis [RCV000007655] Chr7:7q31.2 pathogenic
A445E variation Cystic fibrosis [RCV000007656] Chr7:7q31.2 pathogenic
NM_000492.4(CFTR):c.19G>T (p.Glu7Ter) single nucleotide variant Cystic fibrosis [RCV000007657]|not provided [RCV000278439] Chr7:117480113 [GRCh38]
Chr7:117120167 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.860dup (p.Asn287fs) duplication Cystic fibrosis [RCV000007658] Chr7:117536660..117536661 [GRCh38]
Chr7:117176714..117176715 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005031417]|CFTR-related disorder [RCV001009487]|Cystic fibrosis [RCV000007659]|not provided [RCV000586028]|not specified [RCV001375489] Chr7:117664780 [GRCh38]
Chr7:117304834 [GRCh37]
Chr7:7q31.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) single nucleotide variant CFTR-related disorder [RCV001095295]|Cystic fibrosis [RCV000007660]|not provided [RCV000586415]|not specified [RCV000506350] Chr7:117535318 [GRCh38]
Chr7:117175372 [GRCh37]
Chr7:7q31.2
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473050]|CFTR-related disorder [RCV001826451]|Cystic fibrosis [RCV000007662]|Cystic fibrosis [RCV001004265]|not provided [RCV000759032] Chr7:117590355 [GRCh38]
Chr7:117230409 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1679+116G>T single nucleotide variant Cystic fibrosis [RCV000669851] Chr7:117587949 [GRCh38]
Chr7:117228003 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile) single nucleotide variant Cystic fibrosis [RCV000665515]|Cystic fibrosis [RCV001009540] Chr7:117591978 [GRCh38]
Chr7:117232032 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV005042130]|Cystic fibrosis [RCV000046486]|not provided [RCV004558294] Chr7:117591984..117592067 [GRCh38]
Chr7:117232038..117232121 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000492.4(CFTR):c.1823A>G (p.Glu608Gly) single nucleotide variant Cystic fibrosis [RCV000577047] Chr7:117591990 [GRCh38]
Chr7:117232044 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1826A>G (p.His609Arg) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473468]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005042131]|Cystic fibrosis [RCV000577469]|Cystic fibrosis [RCV001009543]|not provided [RCV001284132]|not specified [RCV001001757] Chr7:117591993 [GRCh38]
Chr7:117232047 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.1826A>T (p.His609Leu) single nucleotide variant Cystic fibrosis [RCV000778818]|not provided [RCV000507939] Chr7:117591993 [GRCh38]
Chr7:117232047 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.1829T>C (p.Leu610Ser) single nucleotide variant Cystic fibrosis [RCV000577725] Chr7:117591996 [GRCh38]
Chr7:117232050 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1837G>A (p.Ala613Thr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003466902]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031494]|CFTR-related disorder [RCV002228156]|Cystic fibrosis [RCV000577180] Chr7:117592004 [GRCh38]
Chr7:117232058 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.3(CFTR):c.1840G>T (p.Asp614Tyr) single nucleotide variant Cystic fibrosis [RCV000046492] Chr7:117592007 [GRCh38]
Chr7:117232061 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473469]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005042132]|CFTR-related disorder [RCV001831738]|Cystic fibrosis [RCV000577786]|Cystic fibrosis [RCV001004275]|Cystic fibrosis [RCV001009371]|not provided [RCV002227057] Chr7:117592008 [GRCh38]
Chr7:117232062 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002490611]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473470]|CFTR-related disorder [RCV004734604]|Cystic fibrosis [RCV000046494]|Cystic fibrosis [RCV001004276]|not provided [RCV000790746] Chr7:117592020 [GRCh38]
Chr7:117232074 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.1856T>C (p.Leu619Ser) single nucleotide variant Cystic fibrosis [RCV000577067] Chr7:117592023 [GRCh38]
Chr7:117232077 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.1859A>C (p.His620Pro) single nucleotide variant Cystic fibrosis [RCV000577346] Chr7:117592026 [GRCh38]
Chr7:117232080 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1860T>G (p.His620Gln) single nucleotide variant Cystic fibrosis [RCV000577374] Chr7:117592027 [GRCh38]
Chr7:117232081 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg) single nucleotide variant Cystic fibrosis [RCV000577750] Chr7:117592049 [GRCh38]
Chr7:117232103 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.1882G>C (p.Gly628Arg) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005031495]|CFTR-related disorder [RCV001831739]|Cystic fibrosis [RCV000577206]|not provided [RCV000730837] Chr7:117592049 [GRCh38]
Chr7:117232103 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.1897C>A (p.Leu633Ile) single nucleotide variant Cystic fibrosis [RCV000671755]|not specified [RCV003235013] Chr7:117592064 [GRCh38]
Chr7:117232118 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.1898T>C (p.Leu633Pro) single nucleotide variant Cystic fibrosis [RCV000577384] Chr7:117592065 [GRCh38]
Chr7:117232119 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.1900C>T (p.Gln634Ter) single nucleotide variant Cystic fibrosis [RCV000046503] Chr7:117592067 [GRCh38]
Chr7:117232121 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1909C>T (p.Gln637Ter) single nucleotide variant Cystic fibrosis [RCV000577807] Chr7:117592076 [GRCh38]
Chr7:117232130 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.1915G>T (p.Asp639Tyr) single nucleotide variant Cystic fibrosis [RCV000046506] Chr7:117592082 [GRCh38]
Chr7:117232136 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1919_1920del (p.Asp639_Phe640insTer) deletion Cystic fibrosis [RCV000577011] Chr7:117592085..117592086 [GRCh38]
Chr7:117232139..117232140 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1923_1931delinsA (p.Ser641fs) indel Bronchiectasis with or without elevated sweat chloride 1 [RCV003473245]|CFTR-related disorder [RCV001027891]|Cystic fibrosis [RCV000046508]|Cystic fibrosis [RCV001004279]|not provided [RCV001508587]|not specified [RCV000780128] Chr7:117592090..117592098 [GRCh38]
Chr7:117232144..117232152 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1966G>T (p.Glu656Ter) single nucleotide variant CFTR-related disorder [RCV001831740]|Cystic fibrosis [RCV000577648] Chr7:117592133 [GRCh38]
Chr7:117232187 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1973_1985delinsAGAAA indel Bronchiectasis with or without elevated sweat chloride 1 [RCV003473471]|CFTR-related disorder [RCV004528258]|Cystic fibrosis [RCV000046511]|Cystic fibrosis [RCV001004280]|not provided [RCV001284133] Chr7:117592140..117592152 [GRCh38]
Chr7:117232194..117232206 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1976del (p.Asn659fs) deletion Cystic fibrosis [RCV000577042] Chr7:117592141 [GRCh38]
Chr7:117232195 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1981del (p.Ile661fs) deletion Cystic fibrosis [RCV000577201] Chr7:117592147 [GRCh38]
Chr7:117232201 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.1984_1987delCTAA (p.Thr663Argfs) deletion Cystic fibrosis [RCV000046514] Chr7:117592151..117592154 [GRCh38]
Chr7:117232205..117232208 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1986_1989del (p.Thr663fs) deletion CFTR-related disorder [RCV001831741]|Cystic fibrosis [RCV000046515]|not specified [RCV001001298] Chr7:117592151..117592154 [GRCh38]
Chr7:117232205..117232208 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter) single nucleotide variant CFTR-related disorder [RCV001831742]|Cystic fibrosis [RCV000577577]|not provided [RCV001781372] Chr7:117592157 [GRCh38]
Chr7:117232211 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.3(CFTR):c.2013_2015delAGA (p.Glu672del) deletion Cystic fibrosis [RCV000046522] Chr7:117592180..117592182 [GRCh38]
Chr7:117232234..117232236 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2017G>T (p.Gly673Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002483054]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473473]|CFTR-related disorder [RCV001831743]|Cystic fibrosis [RCV000046523] Chr7:117592184 [GRCh38]
Chr7:117232238 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.202A>G (p.Lys68Glu) single nucleotide variant CFTR-related disorder [RCV004734605]|Cystic fibrosis [RCV000577254]|not provided [RCV000586819] Chr7:117509071 [GRCh38]
Chr7:117149125 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.2036G>A (p.Trp679Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473474]|Bronchiectasis with or without elevated sweat chloride 1 [RCV004795980]|Cystic fibrosis [RCV000046525] Chr7:117592203 [GRCh38]
Chr7:117232257 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.204A>T (p.Lys68Asn) single nucleotide variant Cystic fibrosis [RCV000671825]|not provided [RCV000985682]|not specified [RCV001804779] Chr7:117509073 [GRCh38]
Chr7:117149127 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.2051_2052del (p.Lys684fs) deletion Cystic fibrosis [RCV000577677] Chr7:117592213..117592214 [GRCh38]
Chr7:117232267..117232268 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2053C>T (p.Gln685Ter) single nucleotide variant CFTR-related disorder [RCV001826629]|Cystic fibrosis [RCV000046532] Chr7:117592220 [GRCh38]
Chr7:117232274 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2074G>T (p.Glu692Ter) single nucleotide variant Cystic fibrosis [RCV000577559] Chr7:117592241 [GRCh38]
Chr7:117232295 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2077T>C (p.Phe693Leu) single nucleotide variant Cystic fibrosis [RCV000577277] Chr7:117592244 [GRCh38]
Chr7:117232298 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.2087A>G (p.Lys696Arg) single nucleotide variant Cystic fibrosis [RCV000577520] Chr7:117592254 [GRCh38]
Chr7:117232308 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.2126G>A (p.Arg709Gln) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566870]|Cystic fibrosis [RCV001004469]|Cystic fibrosis [RCV002415501]|not specified [RCV003155057] Chr7:117592293 [GRCh38]
Chr7:117232347 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.2143C>T (p.Gln715Ter) single nucleotide variant CFTR-related disorder [RCV001826632]|Cystic fibrosis [RCV000576466] Chr7:117592310 [GRCh38]
Chr7:117232364 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2145_2146delinsGT (p.Lys716Ter) indel Cystic fibrosis [RCV001009462] Chr7:117592312..117592313 [GRCh38]
Chr7:117232366..117232367 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2156T>A (p.Leu719Ter) single nucleotide variant Cystic fibrosis [RCV000577719] Chr7:117592323 [GRCh38]
Chr7:117232377 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2158C>T (p.Gln720Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005042133]|CFTR-related disorder [RCV001826633]|Cystic fibrosis [RCV000785630] Chr7:117592325 [GRCh38]
Chr7:117232379 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.3(CFTR):c.215C>A (p.Ala72Asp) single nucleotide variant Cystic fibrosis [RCV000046545] Chr7:117509084 [GRCh38]
Chr7:117149138 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2168G>T (p.Gly723Val) single nucleotide variant CFTR-related disorder [RCV001835657]|Cystic fibrosis [RCV000671215]|not specified [RCV001193072] Chr7:117592335 [GRCh38]
Chr7:117232389 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005042134]|CFTR-related disorder [RCV001009489]|Cystic fibrosis [RCV000577536]|not provided [RCV000590320]|not specified [RCV002265582] Chr7:117592340 [GRCh38]
Chr7:117232394 [GRCh37]
Chr7:7q31.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.217del (p.Leu73fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV005042135]|Cystic fibrosis [RCV001214837] Chr7:117509084 [GRCh38]
Chr7:117149138 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.2188G>T (p.Glu730Ter) single nucleotide variant Cystic fibrosis [RCV000576991] Chr7:117592355 [GRCh38]
Chr7:117232409 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2203del (p.Arg735fs) deletion Cystic fibrosis [RCV000577223] Chr7:117592369 [GRCh38]
Chr7:117232423 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.2204G>A (p.Arg735Lys) single nucleotide variant Cystic fibrosis [RCV000577061] Chr7:117592371 [GRCh38]
Chr7:117232425 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003466904]|Cystic fibrosis [RCV001369922]|not provided [RCV004998161] Chr7:117592377 [GRCh38]
Chr7:117232431 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln) single nucleotide variant CFTR-related disorder [RCV001161752]|Cystic fibrosis [RCV000046556]|not provided [RCV000589418]|not specified [RCV000177074] Chr7:117509090 [GRCh38]
Chr7:117149144 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance|not provided
NM_000492.4(CFTR):c.2233G>T (p.Gly745Ter) single nucleotide variant CFTR-related disorder [RCV001831745]|Cystic fibrosis [RCV001009459] Chr7:117592400 [GRCh38]
Chr7:117232454 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.2240_2247delCGATACTG (p.Ile748Serfs) deletion Cystic fibrosis [RCV000046559] Chr7:117592407..117592414 [GRCh38]
Chr7:117232461..117232468 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2249_2256del (p.Pro750fs) deletion Cystic fibrosis [RCV001009455] Chr7:117592415..117592422 [GRCh38]
Chr7:117232469..117232476 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473479]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031496]|CFTR-related disorder [RCV001009488]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001588874]|Cystic fibrosis [RCV000675059]|Hereditary pancreatitis [RCV002256031]|not provided [RCV000078984] Chr7:117592416 [GRCh38]
Chr7:117232470 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.224G>T (p.Arg75Leu) single nucleotide variant Cystic fibrosis [RCV000577381]|not provided [RCV002260972]|not specified [RCV001194311] Chr7:117509093 [GRCh38]
Chr7:117149147 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.3(CFTR):c.2252G>C (p.Arg751Pro) single nucleotide variant Cystic fibrosis [RCV000046563] Chr7:117592419 [GRCh38]
Chr7:117232473 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2259C>G (p.Ser753Arg) single nucleotide variant Cystic fibrosis [RCV000577629] Chr7:117592426 [GRCh38]
Chr7:117232480 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2259C>T (p.Ser753=) single nucleotide variant CFTR-related disorder [RCV001163689]|Cystic fibrosis [RCV001491792]|not specified [RCV003987338] Chr7:117592426 [GRCh38]
Chr7:117232480 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) single nucleotide variant CFTR-related disorder [RCV001163690]|Cystic fibrosis [RCV000046566]|Hereditary pancreatitis [RCV002255272]|not provided [RCV000589543]|not specified [RCV000242825] Chr7:117592427 [GRCh38]
Chr7:117232481 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.3(CFTR):c.2276_2277delCC (p.Pro759Hisfs) deletion Cystic fibrosis [RCV000046567] Chr7:117592443..117592444 [GRCh38]
Chr7:117232497..117232498 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2279C>T (p.Thr760Met) single nucleotide variant Cystic fibrosis [RCV000666642]|not specified [RCV003235014] Chr7:117592446 [GRCh38]
Chr7:117232500 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.3(CFTR):c.2286G>T (p.Gln762His) single nucleotide variant Cystic fibrosis [RCV000046570] Chr7:117592453 [GRCh38]
Chr7:117232507 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2297G>T (p.Arg766Met) single nucleotide variant Cystic fibrosis [RCV000577791] Chr7:117592464 [GRCh38]
Chr7:117232518 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2324_2325del (p.His775fs) microsatellite Cystic fibrosis [RCV001009458] Chr7:117592487..117592488 [GRCh38]
Chr7:117232541..117232542 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2327C>G (p.Ser776Ter) single nucleotide variant CFTR-related disorder [RCV001831747]|Cystic fibrosis [RCV000577388] Chr7:117592494 [GRCh38]
Chr7:117232548 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.233dup (p.Trp79fs) duplication Bronchiectasis with or without elevated sweat chloride 1 [RCV003473481]|CFTR-related disorder [RCV001826634]|Cystic fibrosis [RCV000046577]|not provided [RCV000508526] Chr7:117509096..117509097 [GRCh38]
Chr7:117149150..117149151 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.233del (p.Phe78fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003473482]|Cystic fibrosis [RCV001009468] Chr7:117509097 [GRCh38]
Chr7:117149151 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2341C>T (p.Gln781Ter) single nucleotide variant Cystic fibrosis [RCV001922461] Chr7:117592508 [GRCh38]
Chr7:117232562 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2346C>A (p.Asn782Lys) single nucleotide variant Cystic fibrosis [RCV000577085]|not provided [RCV002260973]|not specified [RCV001844025] Chr7:117592513 [GRCh38]
Chr7:117232567 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473483]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005042136]|CFTR-related disorder [RCV001826635]|Cystic fibrosis [RCV000046582]|Cystic fibrosis [RCV001004474] Chr7:117592520 [GRCh38]
Chr7:117232574 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.235T>C (p.Trp79Arg) single nucleotide variant not provided [RCV002214450] Chr7:117509104 [GRCh38]
Chr7:117149158 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.236G>A (p.Trp79Ter) single nucleotide variant Cystic fibrosis [RCV000577054] Chr7:117509105 [GRCh38]
Chr7:117149159 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566871]|CFTR-related disorder [RCV001826636]|Cystic fibrosis [RCV000046586]|Cystic fibrosis [RCV001004475]|not specified [RCV000780127] Chr7:117592541 [GRCh38]
Chr7:117232595 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2399C>G (p.Ala800Gly) single nucleotide variant Cystic fibrosis [RCV000577537] Chr7:117592566 [GRCh38]
Chr7:117232620 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2411A>T (p.Glu804Val) single nucleotide variant Cystic fibrosis [RCV000577764] Chr7:117592578 [GRCh38]
Chr7:117232632 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473484]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031497]|CFTR-related disorder [RCV002228157]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001588875]|Cystic fibrosis [RCV000577591]|Cystic fibrosis [RCV001004476]|not provided [RCV001781374]|not specified [RCV001255509] Chr7:117592584 [GRCh38]
Chr7:117232638 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.2428A>G (p.Arg810Gly) single nucleotide variant CFTR-related disorder [RCV001831748]|Cystic fibrosis [RCV000576938]|not specified [RCV003226179] Chr7:117592595 [GRCh38]
Chr7:117232649 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.2440C>T (p.Gln814Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566872]|CFTR-related disorder [RCV001831749]|Cystic fibrosis [RCV000576941] Chr7:117592607 [GRCh38]
Chr7:117232661 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2464G>A (p.Glu822Lys) single nucleotide variant Cystic fibrosis [RCV000577213] Chr7:117592631 [GRCh38]
Chr7:117232685 [GRCh37]
Chr7:7q31.2
likely pathogenic|not provided
NM_000492.4(CFTR):c.2467G>T (p.Glu823Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003475696]|Cystic fibrosis [RCV004701076] Chr7:117592634 [GRCh38]
Chr7:117232688 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2472del (p.Asn825fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV002477155]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473486]|CFTR-related disorder [RCV001826637]|Cystic fibrosis [RCV000577810] Chr7:117592638 [GRCh38]
Chr7:117232692 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2476G>A (p.Glu826Lys) single nucleotide variant CFTR-related disorder [RCV001831751]|Cystic fibrosis [RCV000577037]|not provided [RCV001508589]|not specified [RCV000781228] Chr7:117592643 [GRCh38]
Chr7:117232697 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.2488A>T (p.Lys830Ter) single nucleotide variant Cystic fibrosis [RCV000577412] Chr7:117592655 [GRCh38]
Chr7:117232709 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.2490+2_2490+7delTAGGTA deletion Cystic fibrosis [RCV000046602] Chr7:117592659..117592664 [GRCh38]
Chr7:117232713..117232718 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.2491-11C>T single nucleotide variant Cystic fibrosis [RCV000046603] Chr7:117594919 [GRCh38]
Chr7:117234973 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.2491-23A>G single nucleotide variant Cystic fibrosis [RCV000046604] Chr7:117594907 [GRCh38]
Chr7:117234961 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2491-2A>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004575628] Chr7:117594928 [GRCh38]
Chr7:117234982 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2496C>A (p.Cys832Ter) single nucleotide variant Cystic fibrosis [RCV001009465] Chr7:117594935 [GRCh38]
Chr7:117234989 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2502del (p.Phe834fs) deletion Cystic fibrosis [RCV001009466] Chr7:117594936 [GRCh38]
Chr7:117234990 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) single nucleotide variant CFTR-related disorder [RCV004734606]|Cystic fibrosis [RCV000046610]|Hereditary pancreatitis [RCV002288550]|not provided [RCV000224075]|not specified [RCV000825894] Chr7:117594945 [GRCh38]
Chr7:117234999 [GRCh37]
Chr7:7q31.2
likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.2508del (p.Asp836fs) deletion Cystic fibrosis [RCV001009448] Chr7:117594947 [GRCh38]
Chr7:117235001 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2522C>G (p.Pro841Arg) single nucleotide variant Cystic fibrosis [RCV000577406] Chr7:117594961 [GRCh38]
Chr7:117235015 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2547C>A (p.Tyr849Ter) single nucleotide variant CFTR-related disorder [RCV001826641]|Cystic fibrosis [RCV000046615]|Cystic fibrosis [RCV001009528] Chr7:117594986 [GRCh38]
Chr7:117235040 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.254G>T (p.Gly85Val) single nucleotide variant Cystic fibrosis [RCV000577243] Chr7:117509123 [GRCh38]
Chr7:117149177 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu) single nucleotide variant CFTR-related disorder [RCV001826642]|Cystic fibrosis [RCV000577717] Chr7:117594991 [GRCh38]
Chr7:117235045 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000492.3(CFTR):c.2562delT (p.Val855Serfs) deletion Cystic fibrosis [RCV000046620] Chr7:117595001 [GRCh38]
Chr7:117235055 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2563G>A (p.Val855Ile) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002483055]|CFTR-related disorder [RCV001831752]|Cystic fibrosis [RCV000577234]|Obstructive azoospermia [RCV001646980]|not specified [RCV001778690] Chr7:117595002 [GRCh38]
Chr7:117235056 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.2571G>A (p.Lys857=) single nucleotide variant Cystic fibrosis [RCV002179874] Chr7:117595010 [GRCh38]
Chr7:117235064 [GRCh37]
Chr7:7q31.2
likely benign|not provided
NM_000492.4(CFTR):c.2589_2599del (p.Ile864fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003473489]|Cystic fibrosis [RCV000046624] Chr7:117595023..117595033 [GRCh38]
Chr7:117235077..117235087 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2592_2593del (p.Ile864fs) deletion Cystic fibrosis [RCV000576912] Chr7:117595030..117595031 [GRCh38]
Chr7:117235084..117235085 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2596T>C (p.Cys866Arg) single nucleotide variant Cystic fibrosis [RCV000577006] Chr7:117595035 [GRCh38]
Chr7:117235089 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.259T>A (p.Phe87Ile) single nucleotide variant Cystic fibrosis [RCV000577551] Chr7:117509128 [GRCh38]
Chr7:117149182 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.259T>C (p.Phe87Leu) single nucleotide variant Cystic fibrosis [RCV000577256]|not specified [RCV004799764] Chr7:117509128 [GRCh38]
Chr7:117149182 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.2600T>A (p.Leu867Ter) single nucleotide variant Cystic fibrosis [RCV001009508] Chr7:117595039 [GRCh38]
Chr7:117235093 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.2602delG (p.Val868Terfs) deletion Cystic fibrosis [RCV000046632] Chr7:117595041 [GRCh38]
Chr7:117235095 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2619+2T>A single nucleotide variant Cystic fibrosis [RCV000577222] Chr7:117595060 [GRCh38]
Chr7:117235114 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2619+3A>G single nucleotide variant Cystic fibrosis [RCV000577195]|not specified [RCV003987339] Chr7:117595061 [GRCh38]
Chr7:117235115 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.2619G>A (p.Glu873=) single nucleotide variant Cystic fibrosis [RCV000669484] Chr7:117595058 [GRCh38]
Chr7:117235112 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.3(CFTR):c.2620-1G>C single nucleotide variant Cystic fibrosis [RCV000046636] Chr7:117602825 [GRCh38]
Chr7:117242879 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2620-1G>T single nucleotide variant Cystic fibrosis [RCV000576935] Chr7:117602825 [GRCh38]
Chr7:117242879 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2620-26A>G single nucleotide variant CFTR-related disorder [RCV001027910]|Cystic fibrosis [RCV000672705]|Cystic fibrosis [RCV001004482]|Hereditary pancreatitis [RCV002257388]|not provided [RCV000587637]|not specified [RCV000730943] Chr7:117602800 [GRCh38]
Chr7:117242854 [GRCh37]
Chr7:7q31.2
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.2620-6T>C single nucleotide variant CFTR-related disorder [RCV004542716]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001588876]|Cystic fibrosis [RCV000987963]|not provided [RCV000589355]|not specified [RCV001358661] Chr7:117602820 [GRCh38]
Chr7:117242874 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.3(CFTR):c.2634_2641delGGTTGTGC (p.Leu878Phefs) deletion Cystic fibrosis [RCV000046641] Chr7:117602840..117602847 [GRCh38]
Chr7:117242894..117242901 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.263T>A (p.Leu88Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005042137]|CFTR-related disorder [RCV001826643]|Cystic fibrosis [RCV000576641] Chr7:117509132 [GRCh38]
Chr7:117149186 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.263T>C (p.Leu88Ser) single nucleotide variant Cystic fibrosis [RCV000577561] Chr7:117509132 [GRCh38]
Chr7:117149186 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473490]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005042138]|CFTR-related disorder [RCV001835659]|Cystic fibrosis [RCV000046644]|Cystic fibrosis [RCV002281549]|not specified [RCV000781278] Chr7:117509132 [GRCh38]
Chr7:117149186 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.2645G>A (p.Trp882Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003466905]|CFTR-related disorder [RCV001826644]|Cystic fibrosis [RCV000576558] Chr7:117602851 [GRCh38]
Chr7:117242905 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2657+2_2657+3insA insertion Bronchiectasis with or without elevated sweat chloride 1 [RCV003473491]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005042139]|CFTR-related disorder [RCV001009498]|Cystic fibrosis [RCV000046646]|not provided [RCV000790809] Chr7:117602865..117602866 [GRCh38]
Chr7:117242919..117242920 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.3(CFTR):c.2657+3delG deletion Cystic fibrosis [RCV000046647] Chr7:117602866 [GRCh38]
Chr7:117242920 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.2658-107G>C single nucleotide variant Cystic fibrosis [RCV000046649] Chr7:117603425 [GRCh38]
Chr7:117243479 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2658-1G>T single nucleotide variant Cystic fibrosis [RCV001009452] Chr7:117603531 [GRCh38]
Chr7:117243585 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2669A>G (p.Gln890Arg) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002496713]|CFTR-related disorder [RCV001831753]|Cystic fibrosis [RCV000577280]|not specified [RCV001797613] Chr7:117603543 [GRCh38]
Chr7:117243597 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.266A>G (p.Tyr89Cys) single nucleotide variant CFTR-related disorder [RCV001826645]|Cystic fibrosis [RCV000577135]|not provided [RCV001811322]|not specified [RCV002281736] Chr7:117509135 [GRCh38]
Chr7:117149189 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.2679G>T (p.Gly893=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005042140]|Cystic fibrosis [RCV001250515]|not specified [RCV001002013] Chr7:117603553 [GRCh38]
Chr7:117243607 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn) single nucleotide variant Breast neoplasm [RCV001265632]|CFTR-related disorder [RCV001158765]|Cystic fibrosis [RCV000667642]|Hereditary pancreatitis [RCV002257389]|not provided [RCV001284478]|not specified [RCV000508371] Chr7:117603558 [GRCh38]
Chr7:117243612 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.2687_2690delinsTGAGTACTATGAG (p.Thr896_His897delinsMetSerThrMetSer) indel Cystic fibrosis [RCV002453161] Chr7:117603561..117603564 [GRCh38]
Chr7:117243615..117243618 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.269T>C (p.Leu90Ser) single nucleotide variant Cystic fibrosis [RCV000577443] Chr7:117509138 [GRCh38]
Chr7:117149192 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2706C>G (p.Ser902Arg) single nucleotide variant Cystic fibrosis [RCV000757863] Chr7:117603580 [GRCh38]
Chr7:117243634 [GRCh37]
Chr7:7q31.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.2719A>G (p.Ile907Val) single nucleotide variant Cystic fibrosis [RCV000668207] Chr7:117603593 [GRCh38]
Chr7:117243647 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473492]|CFTR-related disorder [RCV001009494]|Cystic fibrosis [RCV000577705]|not specified [RCV003235015] Chr7:117603597 [GRCh38]
Chr7:117243651 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474549]|CFTR-related disorder [RCV001826646]|Cystic fibrosis [RCV000046665]|Cystic fibrosis [RCV001009512]|Hereditary pancreatitis [RCV002256032] Chr7:117603609 [GRCh38]
Chr7:117243663 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.2736dupG (p.Tyr913Valfs) duplication Cystic fibrosis [RCV000046667] Chr7:117603610 [GRCh38]
Chr7:117243664 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474550]|CFTR-related disorder [RCV001831754]|Cystic fibrosis [RCV000046670]|Cystic fibrosis [RCV001004486]|not provided [RCV001509321] Chr7:117603613 [GRCh38]
Chr7:117243667 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.274-10C>G single nucleotide variant Cystic fibrosis [RCV002118345] Chr7:117530889 [GRCh38]
Chr7:117170943 [GRCh37]
Chr7:7q31.2
likely benign|not provided
NM_000492.4(CFTR):c.274-1G>C single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566874]|Cystic fibrosis [RCV000664921] Chr7:117530898 [GRCh38]
Chr7:117170952 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.274-1G>T single nucleotide variant Cystic fibrosis [RCV001009450] Chr7:117530898 [GRCh38]
Chr7:117170952 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.274-2A>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474551]|CFTR-related disorder [RCV001831755]|Cystic fibrosis [RCV000577517] Chr7:117530897 [GRCh38]
Chr7:117170951 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.2749T>G (p.Tyr917Asp) single nucleotide variant Cystic fibrosis [RCV000046676] Chr7:117603623 [GRCh38]
Chr7:117243677 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2750A>G (p.Tyr917Cys) single nucleotide variant Cystic fibrosis [RCV000577097]|not provided [RCV001509322] Chr7:117603624 [GRCh38]
Chr7:117243678 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.2754T>G (p.Ile918Met) single nucleotide variant Cystic fibrosis [RCV000577571] Chr7:117603628 [GRCh38]
Chr7:117243682 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2756A>G (p.Tyr919Cys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002477156]|CFTR-related disorder [RCV001826647]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV002288551]|Cystic fibrosis [RCV000577265]|not provided [RCV000734202]|not specified [RCV000781290] Chr7:117603630 [GRCh38]
Chr7:117243684 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.2758G>A (p.Val920Met) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000765926]|CFTR-related disorder [RCV004537227]|Cystic fibrosis [RCV000577642]|not provided [RCV000731224]|not specified [RCV000781291] Chr7:117603632 [GRCh38]
Chr7:117243686 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu) single nucleotide variant Cystic fibrosis [RCV000577094]|Obstructive azoospermia [RCV001646981]|not provided [RCV000723423]|not specified [RCV003230381] Chr7:117603632 [GRCh38]
Chr7:117243686 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.2763_2764dup (p.Val922fs) duplication Bronchiectasis with or without elevated sweat chloride 1 [RCV003474552]|CFTR-related disorder [RCV001831756]|Cystic fibrosis [RCV000046684] Chr7:117603635..117603636 [GRCh38]
Chr7:117243689..117243690 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.276A>T (p.Glu92Asp) single nucleotide variant Cystic fibrosis [RCV001277174]|not specified [RCV000781282] Chr7:117530901 [GRCh38]
Chr7:117170955 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn) single nucleotide variant CFTR-related disorder [RCV001831757]|Cystic fibrosis [RCV000577296]|not provided [RCV000587040]|not specified [RCV001255211] Chr7:117603644 [GRCh38]
Chr7:117243698 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.2776_2777del (p.Leu926fs) deletion Cystic fibrosis [RCV000576969] Chr7:117603649..117603650 [GRCh38]
Chr7:117243703..117243704 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2777del (p.Leu926fs) deletion Cystic fibrosis [RCV000577620] Chr7:117603649 [GRCh38]
Chr7:117243703 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly) single nucleotide variant CFTR-related disorder [RCV001009477]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001588877]|Cystic fibrosis [RCV000577327]|not provided [RCV000595350] Chr7:117603671 [GRCh38]
Chr7:117243725 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.2799A>T (p.Arg933Ser) single nucleotide variant Cystic fibrosis [RCV000577697]|not specified [RCV004586520] Chr7:117603673 [GRCh38]
Chr7:117243727 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.2808A>G (p.Pro936=) single nucleotide variant Cystic fibrosis [RCV001705705]|not provided [RCV001532117]|not specified [RCV001260391] Chr7:117603682 [GRCh38]
Chr7:117243736 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance|not provided
NM_000492.4(CFTR):c.2815C>G (p.His939Asp) single nucleotide variant Cystic fibrosis [RCV000668898]|not specified [RCV004700331] Chr7:117603689 [GRCh38]
Chr7:117243743 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.2816A>G (p.His939Arg) single nucleotide variant Cystic fibrosis [RCV002433535] Chr7:117603690 [GRCh38]
Chr7:117243744 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.2825del (p.Ile942fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003474553]|CFTR-related disorder [RCV001831758]|Cystic fibrosis [RCV000046696] Chr7:117603699 [GRCh38]
Chr7:117243753 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.2836A>T (p.Lys946Ter) single nucleotide variant Cystic fibrosis [RCV000046698] Chr7:117603710 [GRCh38]
Chr7:117243764 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2846A>G (p.His949Arg) single nucleotide variant Cystic fibrosis [RCV000577619] Chr7:117603720 [GRCh38]
Chr7:117243774 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2846A>T (p.His949Leu) single nucleotide variant CFTR-related disorder [RCV001835661]|Cystic fibrosis [RCV000577071] Chr7:117603720 [GRCh38]
Chr7:117243774 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr) single nucleotide variant Cystic fibrosis [RCV000046702]|Inborn genetic diseases [RCV000624171]|not provided [RCV000587345] Chr7:117603729 [GRCh38]
Chr7:117243783 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474555]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031501]|CFTR-related disorder [RCV001009476]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV000588974]|Cystic fibrosis [RCV000577274]|not provided [RCV000733156]|not specified [RCV001002222] Chr7:117603730 [GRCh38]
Chr7:117243784 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.2859_2890del (p.Leu953fs) deletion CFTR-related disorder [RCV001826649]|Cystic fibrosis [RCV000046704] Chr7:117603733..117603764 [GRCh38]
Chr7:117243787..117243818 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2861A>C (p.His954Pro) single nucleotide variant Cystic fibrosis [RCV000577587]|not provided [RCV001509327] Chr7:117603735 [GRCh38]
Chr7:117243789 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.2876C>T (p.Ala959Val) single nucleotide variant CFTR-related disorder [RCV004734607]|Cystic fibrosis [RCV000577390]|not specified [RCV003317062] Chr7:117603750 [GRCh38]
Chr7:117243804 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.287C>A (p.Ala96Glu) single nucleotide variant Cystic fibrosis [RCV000577108] Chr7:117530912 [GRCh38]
Chr7:117170966 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.2883G>T (p.Met961Ile) single nucleotide variant Cystic fibrosis [RCV000046709] Chr7:117603757 [GRCh38]
Chr7:117243811 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2896del (p.Thr966fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003474556]|CFTR-related disorder [RCV001831760]|Cystic fibrosis [RCV000046710] Chr7:117603770 [GRCh38]
Chr7:117243824 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.2908+2T>C single nucleotide variant Cystic fibrosis [RCV000046711] Chr7:117603784 [GRCh38]
Chr7:117243838 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2908G>A (p.Gly970Ser) single nucleotide variant Cystic fibrosis [RCV000673430]|Hereditary pancreatitis [RCV002247434]|not provided [RCV003476942] Chr7:117603782 [GRCh38]
Chr7:117243836 [GRCh37]
Chr7:7q31.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.2909-11_2909-5del deletion Cystic fibrosis [RCV004607508] Chr7:117606661..117606667 [GRCh38]
Chr7:117246715..117246721 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.2909-15T>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005031502]|Cystic fibrosis [RCV000670991]|Cystic fibrosis [RCV001009391]|not provided [RCV000508198] Chr7:117606659 [GRCh38]
Chr7:117246713 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.2909-1G>A single nucleotide variant not provided [RCV001780490] Chr7:117606673 [GRCh38]
Chr7:117246727 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2909-4A>G single nucleotide variant CFTR-related disorder [RCV001826651]|Cystic fibrosis [RCV000665147]|not provided [RCV000593074] Chr7:117606670 [GRCh38]
Chr7:117246724 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.3(CFTR):c.2909delG deletion Cystic fibrosis [RCV000576989]|not provided [RCV000985686] Chr7:117606673 [GRCh38]
Chr7:117246727 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2916_2917delinsAT (p.Leu973Phe) indel Cystic fibrosis [RCV000577125]|not specified [RCV001193703] Chr7:117606681..117606682 [GRCh38]
Chr7:117246735..117246736 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.3(CFTR):c.2918T>A (p.Leu973His) single nucleotide variant Cystic fibrosis [RCV000046721] Chr7:117606683 [GRCh38]
Chr7:117246737 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2918T>C (p.Leu973Pro) single nucleotide variant Cystic fibrosis [RCV000577431]|not specified [RCV002247435] Chr7:117606683 [GRCh38]
Chr7:117246737 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.2929T>C (p.Ser977Pro) single nucleotide variant Cystic fibrosis [RCV000577747] Chr7:117606694 [GRCh38]
Chr7:117246748 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474558]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031503]|CFTR-related disorder [RCV002228325]|Cystic fibrosis [RCV000577087]|Cystic fibrosis [RCV001004491]|Cystic fibrosis [RCV001009389]|Hereditary pancreatitis [RCV002247436]|ivacaftor response - Efficacy [RCV000660775]|not provided [RCV001811323] Chr7:117606695 [GRCh38]
Chr7:117246749 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|drug response|uncertain significance|not provided
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474559]|Bronchiectasis with or without elevated sweat chloride 1 [RCV004795981]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV000586469]|Cystic fibrosis [RCV000577756]|not provided [RCV001811324] Chr7:117606701 [GRCh38]
Chr7:117246755 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.2936A>T (p.Asp979Val) single nucleotide variant Cystic fibrosis [RCV000577309]|Cystic fibrosis [RCV001009520] Chr7:117606701 [GRCh38]
Chr7:117246755 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005031504]|CFTR-related disorder [RCV001009475]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV000586046]|Cystic fibrosis [RCV000577032]|not provided [RCV003137585]|not specified [RCV001001213] Chr7:117606704 [GRCh38]
Chr7:117246758 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.293A>C (p.Gln98Pro) single nucleotide variant Cystic fibrosis [RCV000577614] Chr7:117530918 [GRCh38]
Chr7:117170972 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763149]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003474560]|CFTR-related disorder [RCV001831762]|Cystic fibrosis [RCV000588283]|Cystic fibrosis [RCV001004424]|not provided [RCV003476943]|not specified [RCV000505966] Chr7:117530918 [GRCh38]
Chr7:117170972 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.3(CFTR):c.2953G>C (p.Asp985His) single nucleotide variant Cystic fibrosis [RCV000046732] Chr7:117606718 [GRCh38]
Chr7:117246772 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.2953G>T (p.Asp985Tyr) single nucleotide variant Cystic fibrosis [RCV000046733] Chr7:117606718 [GRCh38]
Chr7:117246772 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.296C>T (p.Pro99Leu) single nucleotide variant Cystic fibrosis [RCV000577122]|Cystic fibrosis [RCV001009535] Chr7:117530921 [GRCh38]
Chr7:117170975 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2977G>T (p.Asp993Tyr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474561]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005042141]|Cystic fibrosis [RCV000577451]|not specified [RCV003155058] Chr7:117606742 [GRCh38]
Chr7:117246796 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.2981T>G (p.Phe994Cys) single nucleotide variant CFTR-related disorder [RCV001831763]|Cystic fibrosis [RCV000577330]|not provided [RCV000586753]|not specified [RCV000855590] Chr7:117606746 [GRCh38]
Chr7:117246800 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.2989-2A>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474562]|CFTR-related disorder [RCV001831765]|Cystic fibrosis [RCV000046741]|Cystic fibrosis [RCV001004286]|not provided [RCV003114231] Chr7:117610517 [GRCh38]
Chr7:117250571 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2989-3C>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474563]|Cystic fibrosis [RCV000577459] Chr7:117610516 [GRCh38]
Chr7:117250570 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance|not provided
NC_000007.14:g.117610519_117610669del deletion Cystic fibrosis [RCV000785760] Chr7:117610517..117610667 [GRCh38]
Chr7:117250573..117250723 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.2994_2997delATTA (p.Ile1000Terfs) deletion Cystic fibrosis [RCV000046746] Chr7:117610524..117610527 [GRCh38]
Chr7:117250578..117250581 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer) deletion Cystic fibrosis [RCV000046747] Chr7:117610524..117610527 [GRCh38]
Chr7:117250578..117250581 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.2998_3019del (p.Ile1000fs) deletion Cystic fibrosis [RCV000576971] Chr7:117610528..117610549 [GRCh38]
Chr7:117250582..117250603 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2998del (p.Ile1000fs) deletion Cystic fibrosis [RCV000577236]|not provided [RCV004696661] Chr7:117610527 [GRCh38]
Chr7:117250581 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2T>A (p.Met1Lys) single nucleotide variant Cystic fibrosis [RCV000577491] Chr7:117480096 [GRCh38]
Chr7:117120150 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2T>C (p.Met1Thr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002477157]|CFTR-related disorder [RCV001826652]|Cystic fibrosis [RCV000046751]|Cystic fibrosis [RCV002262607]|not provided [RCV003476944] Chr7:117480096 [GRCh38]
Chr7:117120150 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.3002_3003del (p.Val1001fs) microsatellite CFTR-related disorder [RCV001831766]|Cystic fibrosis [RCV000046752] Chr7:117610530..117610531 [GRCh38]
Chr7:117250584..117250585 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3007G>T (p.Gly1003Ter) single nucleotide variant Cystic fibrosis [RCV000577646] Chr7:117610537 [GRCh38]
Chr7:117250591 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3008G>A (p.Gly1003Glu) single nucleotide variant Cystic fibrosis [RCV000577771] Chr7:117610538 [GRCh38]
Chr7:117250592 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474564]|Cystic fibrosis [RCV000577028] Chr7:117610544 [GRCh38]
Chr7:117250598 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu) single nucleotide variant Cystic fibrosis [RCV000577175]|Cystic fibrosis [RCV001004287]|not provided [RCV003159093]|not specified [RCV001582546] Chr7:117610547 [GRCh38]
Chr7:117250601 [GRCh37]
Chr7:7q31.2
pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.3021del (p.Val1008fs) deletion Cystic fibrosis [RCV000577556] Chr7:117610550 [GRCh38]
Chr7:117250604 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3022del (p.Val1008fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003474565]|Cystic fibrosis [RCV000046758] Chr7:117610552 [GRCh38]
Chr7:117250606 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.3023T>A (p.Val1008Asp) single nucleotide variant Cystic fibrosis [RCV000577813] Chr7:117610553 [GRCh38]
Chr7:117250607 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.3025G>A (p.Ala1009Thr) single nucleotide variant CFTR-related disorder [RCV001163492]|Cystic fibrosis [RCV000671928]|not provided [RCV000175401]|not specified [RCV000780124] Chr7:117610555 [GRCh38]
Chr7:117250609 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.3(CFTR):c.302T>C (p.Leu101Ser) single nucleotide variant Cystic fibrosis [RCV000046761] Chr7:117530927 [GRCh38]
Chr7:117170981 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.302T>G (p.Leu101Ter) single nucleotide variant Cystic fibrosis [RCV000577461] Chr7:117530927 [GRCh38]
Chr7:117170981 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005042142]|CFTR-related disorder [RCV001831767]|Cystic fibrosis [RCV000577169]|not provided [RCV004791247]|not specified [RCV001255508] Chr7:117610568 [GRCh38]
Chr7:117250622 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.3039del (p.Tyr1014fs) deletion CFTR-related disorder [RCV001826653]|Cystic fibrosis [RCV000046765]|not provided [RCV003736566] Chr7:117610567 [GRCh38]
Chr7:117250621 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002504942]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003474566]|CFTR-related disorder [RCV001163493]|Cystic fibrosis [RCV000987964]|not provided [RCV000586855]|not specified [RCV000152997] Chr7:117610571 [GRCh38]
Chr7:117250625 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.3(CFTR):c.3041_3042delAC (p.Ile1015Leufs) deletion Cystic fibrosis [RCV000046768] Chr7:117610571..117610572 [GRCh38]
Chr7:117250625..117250626 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser) single nucleotide variant Cystic fibrosis [RCV000577048]|Cystic fibrosis [RCV001004288]|not specified [RCV001174827] Chr7:117610577 [GRCh38]
Chr7:117250631 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.3(CFTR):c.3059T>A (p.Val1020Glu) single nucleotide variant Cystic fibrosis [RCV000046770] Chr7:117610589 [GRCh38]
Chr7:117250643 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.305T>C (p.Leu102Pro) single nucleotide variant Cystic fibrosis [RCV000577371] Chr7:117530930 [GRCh38]
Chr7:117170984 [GRCh37]
Chr7:7q31.2
likely pathogenic|not provided
NM_000492.4(CFTR):c.3061C>T (p.Pro1021Ser) single nucleotide variant CFTR-related disorder [RCV001826654]|Cystic fibrosis [RCV000577484] Chr7:117610591 [GRCh38]
Chr7:117250645 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.3(CFTR):c.3063_3068delAGTGAT (p.Ile1023_Val1024del) deletion Cystic fibrosis [RCV000046773] Chr7:117610593..117610598 [GRCh38]
Chr7:117250647..117250652 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3064_3117del (p.Val1022_Gln1039del) deletion Cystic fibrosis [RCV000576984] Chr7:117610593..117610646 [GRCh38]
Chr7:117250647..117250700 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003473238]|CFTR-related disorder [RCV001826528]|Cystic fibrosis [RCV000046775]|Cystic fibrosis [RCV001004289]|not provided [RCV000757083] Chr7:117610593..117610598 [GRCh38]
Chr7:117250647..117250652 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.3068_3072del (p.Ile1023fs) deletion Cystic fibrosis [RCV001009407] Chr7:117610598..117610602 [GRCh38]
Chr7:117250652..117250656 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3083T>G (p.Met1028Arg) single nucleotide variant CFTR-related disorder [RCV001826655]|Cystic fibrosis [RCV001785468]|not provided [RCV000755919]|not specified [RCV003235016] Chr7:117610613 [GRCh38]
Chr7:117250667 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.3084G>T (p.Met1028Ile) single nucleotide variant Cystic fibrosis [RCV000577801] Chr7:117610614 [GRCh38]
Chr7:117250668 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.3094T>A (p.Tyr1032Asn) single nucleotide variant Cystic fibrosis [RCV000046779] Chr7:117610624 [GRCh38]
Chr7:117250678 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003466907]|CFTR-related disorder [RCV001831769]|Cystic fibrosis [RCV000046781] Chr7:117610633 [GRCh38]
Chr7:117250687 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.3(CFTR):c.3106delA (p.Thr1036Profs) deletion Cystic fibrosis [RCV000046782] Chr7:117610636 [GRCh38]
Chr7:117250690 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566875]|Cystic fibrosis [RCV000577654]|Cystic fibrosis [RCV001004291]|not provided [RCV002254276]|not specified [RCV000781270] Chr7:117610637 [GRCh38]
Chr7:117250691 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.310del (p.Arg104fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV005031505]|CFTR-related disorder [RCV001835663]|Cystic fibrosis [RCV000046784]|not provided [RCV001284615] Chr7:117530934 [GRCh38]
Chr7:117170988 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3124C>T (p.Gln1042Ter) single nucleotide variant CFTR-related disorder [RCV001826656]|Cystic fibrosis [RCV000576454] Chr7:117610654 [GRCh38]
Chr7:117250708 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3131A>G (p.Glu1044Gly) single nucleotide variant Cystic fibrosis [RCV004586521]|not specified [RCV000505907] Chr7:117610661 [GRCh38]
Chr7:117250715 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.3139+101C>G single nucleotide variant Cystic fibrosis [RCV001467469] Chr7:117610770 [GRCh38]
Chr7:117250824 [GRCh37]
Chr7:7q31.2
likely benign|not provided
NM_000492.4(CFTR):c.3139+1G>A single nucleotide variant Cystic fibrosis [RCV001009408] Chr7:117610670 [GRCh38]
Chr7:117250724 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3139+1G>T single nucleotide variant Cystic fibrosis [RCV000577199] Chr7:117610670 [GRCh38]
Chr7:117250724 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3139G>C (p.Gly1047Arg) single nucleotide variant Cystic fibrosis [RCV000577601] Chr7:117610669 [GRCh38]
Chr7:117250723 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3139_3139+1del deletion CFTR-related disorder [RCV001835664]|Cystic fibrosis [RCV000046791] Chr7:117610669..117610670 [GRCh38]
Chr7:117250723..117250724 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.313del (p.Ile105fs) deletion CFTR-related disorder [RCV001027892]|Cystic fibrosis [RCV000046792]|Cystic fibrosis [RCV001004425]|not provided [RCV000759763] Chr7:117530937 [GRCh38]
Chr7:117170991 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3140-1G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474567]|Cystic fibrosis [RCV000664999] Chr7:117611580 [GRCh38]
Chr7:117251634 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.3140-4A>G single nucleotide variant Cystic fibrosis [RCV000577793]|not specified [RCV004586522] Chr7:117611577 [GRCh38]
Chr7:117251631 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.3(CFTR):c.3140-649_3140-54del596 deletion Cystic fibrosis [RCV000046796] Chr7:117610932..117611527 [GRCh38]
Chr7:117250986..117251581 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.3140G>A (p.Gly1047Asp) single nucleotide variant Cystic fibrosis [RCV000046797] Chr7:117611581 [GRCh38]
Chr7:117251635 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.314T>A (p.Ile105Asn) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005042143]|CFTR-related disorder [RCV001826657]|Cystic fibrosis [RCV001382997] Chr7:117530939 [GRCh38]
Chr7:117170993 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.3158C>T (p.Thr1053Ile) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474568]|CFTR-related disorder [RCV001826658]|Cystic fibrosis [RCV000046800]|not provided [RCV001800353]|not specified [RCV000587271] Chr7:117611599 [GRCh38]
Chr7:117251653 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.3160C>G (p.His1054Asp) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566876]|CFTR-related disorder [RCV001826659]|Cystic fibrosis [RCV000046801]|not specified [RCV000781263] Chr7:117611601 [GRCh38]
Chr7:117251655 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3169A>G (p.Thr1057Ala) single nucleotide variant CFTR-related disorder [RCV001826660]|Cystic fibrosis [RCV000671075]|not provided [RCV000402359]|not specified [RCV001280927] Chr7:117611610 [GRCh38]
Chr7:117251664 [GRCh37]
Chr7:7q31.2
pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.3176T>G (p.Leu1059Ter) single nucleotide variant Cystic fibrosis [RCV000577185] Chr7:117611617 [GRCh38]
Chr7:117251671 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3177A>G (p.Leu1059=) single nucleotide variant CFTR-related disorder [RCV004537228]|Cystic fibrosis [RCV001250547]|not provided [RCV004704831]|not specified [RCV001000389] Chr7:117611618 [GRCh38]
Chr7:117251672 [GRCh37]
Chr7:7q31.2
likely benign|not provided
NM_000492.4(CFTR):c.3179A>C (p.Lys1060Thr) single nucleotide variant Cystic fibrosis [RCV000577033]|ivacaftor response - Efficacy [RCV000660829] Chr7:117611620 [GRCh38]
Chr7:117251674 [GRCh37]
Chr7:7q31.2
drug response|not provided
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003466908]|CFTR-related disorder [RCV001831770]|Cystic fibrosis [RCV000046807]|Cystic fibrosis [RCV001004296]|not provided [RCV000078994]|not specified [RCV000999884] Chr7:117611622 [GRCh38]
Chr7:117251676 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|uncertain significance|not provided
CFTR:c.3188_3189insCTATG (p.Trp1063delinsCysTyrGlyfs) insertion Cystic fibrosis [RCV000046808] Chr7:117611629..117611630 [GRCh38]
Chr7:117251683..117251684 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3189G>A (p.Trp1063Ter) single nucleotide variant Cystic fibrosis [RCV000577785] Chr7:117611630 [GRCh38]
Chr7:117251684 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.3193C>T (p.Leu1065Phe) single nucleotide variant Cystic fibrosis [RCV000046810] Chr7:117611634 [GRCh38]
Chr7:117251688 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003466909]|Cystic fibrosis [RCV000577502] Chr7:117611635 [GRCh38]
Chr7:117251689 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.3196C>A (p.Arg1066Ser) single nucleotide variant Cystic fibrosis [RCV000577509] Chr7:117611637 [GRCh38]
Chr7:117251691 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.3197G>T (p.Arg1066Leu) single nucleotide variant Cystic fibrosis [RCV000577722] Chr7:117611638 [GRCh38]
Chr7:117251692 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.3199G>C (p.Ala1067Pro) single nucleotide variant Cystic fibrosis [RCV000675030] Chr7:117611640 [GRCh38]
Chr7:117251694 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.319_326del (p.Ile106_Ala107insTer) deletion Cystic fibrosis [RCV000577823]|Cystic fibrosis [RCV001004426] Chr7:117530942..117530949 [GRCh38]
Chr7:117170996..117171003 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.3200C>A (p.Ala1067Asp) single nucleotide variant Cystic fibrosis [RCV000046820] Chr7:117611641 [GRCh38]
Chr7:117251695 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3200C>G (p.Ala1067Gly) single nucleotide variant Cystic fibrosis [RCV000665908] Chr7:117611641 [GRCh38]
Chr7:117251695 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val) single nucleotide variant CFTR-related disorder [RCV002228158]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV004525827]|Cystic fibrosis [RCV000670817]|not provided [RCV000586398] Chr7:117611641 [GRCh38]
Chr7:117251695 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474569]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031506]|CFTR-related disorder [RCV001009473]|Cystic fibrosis [RCV000046823]|Cystic fibrosis [RCV004795982]|Hereditary pancreatitis [RCV002226453]|not provided [RCV000506564]|not specified [RCV001375487] Chr7:117611646 [GRCh38]
Chr7:117251700 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474570]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031507]|CFTR-related disorder [RCV002228159]|Congenital bilateral absence of vas deferens [RCV002221194]|Cystic fibrosis [RCV000219441]|Cystic fibrosis [RCV000757802]|Cystic fibrosis [RCV001009384]|ivacaftor response - Efficacy [RCV000660792]|not provided [RCV000507471]|not specified [RCV001731338] Chr7:117611649 [GRCh38]
Chr7:117251703 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|drug response|uncertain significance|not provided
NM_000492.4(CFTR):c.3209G>C (p.Arg1070Pro) single nucleotide variant Cystic fibrosis [RCV000577217] Chr7:117611650 [GRCh38]
Chr7:117251704 [GRCh37]
Chr7:7q31.2
likely pathogenic|not provided
NM_000492.4(CFTR):c.3211C>T (p.Gln1071Ter) single nucleotide variant Cystic fibrosis [RCV001009404] Chr7:117611652 [GRCh38]
Chr7:117251706 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474571]|CFTR-related disorder [RCV002228160]|Cystic fibrosis [RCV000046829]|Cystic fibrosis [RCV001004302]|ivacaftor response - Efficacy [RCV000660789]|not provided [RCV000522824] Chr7:117611663 [GRCh38]
Chr7:117251717 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|drug response|uncertain significance|not provided
NM_000492.4(CFTR):c.3229_3230del (p.Leu1077fs) microsatellite Cystic fibrosis [RCV000577220]|not provided [RCV003114232] Chr7:117611668..117611669 [GRCh38]
Chr7:117251722..117251723 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.3236A>C (p.His1079Pro) single nucleotide variant Cystic fibrosis [RCV000046832] Chr7:117611677 [GRCh38]
Chr7:117251731 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003466910]|Cystic fibrosis [RCV000577153]|Cystic fibrosis [RCV001009379] Chr7:117530948 [GRCh38]
Chr7:117171002 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.3241G>C (p.Ala1081Pro) single nucleotide variant Cystic fibrosis [RCV000577507] Chr7:117611682 [GRCh38]
Chr7:117251736 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3257C>T (p.Thr1086Ile) single nucleotide variant Cystic fibrosis [RCV000665381] Chr7:117611698 [GRCh38]
Chr7:117251752 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005031509]|Cystic fibrosis [RCV000672235]|not specified [RCV003398628] Chr7:117530950 [GRCh38]
Chr7:117171004 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp) single nucleotide variant Cystic fibrosis [RCV000577535] Chr7:117611703 [GRCh38]
Chr7:117251757 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.3263dup (p.Asn1088fs) duplication Cystic fibrosis [RCV000577588] Chr7:117611702..117611703 [GRCh38]
Chr7:117251756..117251757 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3264del (p.Trp1089fs) deletion Cystic fibrosis [RCV000577738] Chr7:117611705 [GRCh38]
Chr7:117251759 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.326_327del (p.Ser108_Tyr109insTer) deletion Cystic fibrosis [RCV002002562] Chr7:117530950..117530951 [GRCh38]
Chr7:117171004..117171005 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3278T>C (p.Leu1093Pro) single nucleotide variant Cystic fibrosis [RCV000577018] Chr7:117611719 [GRCh38]
Chr7:117251773 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.327T>A (p.Tyr109Ter) single nucleotide variant Cystic fibrosis [RCV000577345] Chr7:117530952 [GRCh38]
Chr7:117171006 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.3281_3367+268delinsTGTTAA indel Cystic fibrosis [RCV000577052] Chr7:117611722..117612076 [GRCh38]
Chr7:117251776..117252130 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.3287del (p.Leu1096fs) deletion Cystic fibrosis [RCV003508841] Chr7:117611728 [GRCh38]
Chr7:117251782 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr) single nucleotide variant CFTR-related disorder [RCV004537229]|Cystic fibrosis [RCV001705706]|not provided [RCV003480044]|not specified [RCV000508454] Chr7:117530953 [GRCh38]
Chr7:117171007 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.328del (p.Asp110fs) deletion Cystic fibrosis [RCV000576925] Chr7:117530953 [GRCh38]
Chr7:117171007 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005031510]|Cystic fibrosis [RCV000577522]|not provided [RCV000985688] Chr7:117611733 [GRCh38]
Chr7:117251787 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.3293G>A (p.Trp1098Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566877]|CFTR-related disorder [RCV001831771]|Cystic fibrosis [RCV000046855]|Cystic fibrosis [RCV001009509] Chr7:117611734 [GRCh38]
Chr7:117251788 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3294G>C (p.Trp1098Cys) single nucleotide variant Cystic fibrosis [RCV000576929]|Cystic fibrosis [RCV002281550] Chr7:117611735 [GRCh38]
Chr7:117251789 [GRCh37]
Chr7:7q31.2
pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.3294del (p.Trp1098fs) deletion Cystic fibrosis [RCV002284600] Chr7:117611734 [GRCh38]
Chr7:117251788 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474574]|CFTR-related disorder [RCV001831772]|Cystic fibrosis [RCV000577192]|Cystic fibrosis [RCV001004493] Chr7:117611740 [GRCh38]
Chr7:117251794 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000492.4(CFTR):c.3302T>G (p.Met1101Arg) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566878]|Cystic fibrosis [RCV000785632]|not specified [RCV000508206] Chr7:117611743 [GRCh38]
Chr7:117251797 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.3304A>T (p.Arg1102Ter) single nucleotide variant CFTR-related disorder [RCV001826662]|Cystic fibrosis [RCV000046861] Chr7:117611745 [GRCh38]
Chr7:117251799 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474575]|CFTR-related disorder [RCV001831773]|Cystic fibrosis [RCV000577359]|Cystic fibrosis [RCV001009539]|ivacaftor response - Efficacy [RCV000660830]|not provided [RCV000596840] Chr7:117530955 [GRCh38]
Chr7:117171009 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|drug response|not provided
NM_000492.4(CFTR):c.3314T>G (p.Met1105Arg) single nucleotide variant Cystic fibrosis [RCV000577558] Chr7:117611755 [GRCh38]
Chr7:117251809 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3315del (p.Met1105fs) deletion Cystic fibrosis [RCV000577320] Chr7:117611756 [GRCh38]
Chr7:117251810 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.331C>G (p.Pro111Ala) single nucleotide variant CFTR-related disorder [RCV001009499]|Cystic fibrosis [RCV000577688] Chr7:117530956 [GRCh38]
Chr7:117171010 [GRCh37]
Chr7:7q31.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.3322G>C (p.Val1108Leu) single nucleotide variant CFTR-related disorder [RCV001826663]|Cystic fibrosis [RCV000577410]|not provided [RCV001811325]|not specified [RCV002509190] Chr7:117611763 [GRCh38]
Chr7:117251817 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu) single nucleotide variant CFTR-related disorder [RCV001009500]|Cystic fibrosis [RCV000046868]|See cases [RCV002251952]|not provided [RCV000590642]|not specified [RCV001844026] Chr7:117530957 [GRCh38]
Chr7:117171011 [GRCh37]
Chr7:7q31.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.3353C>G (p.Ser1118Cys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474576]|Cystic fibrosis [RCV000576956]|not specified [RCV004526606] Chr7:117611794 [GRCh38]
Chr7:117251848 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474577]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031511]|CFTR-related disorder [RCV004734608]|Cystic fibrosis [RCV000577360]|Cystic fibrosis [RCV002281551]|not provided [RCV001781376] Chr7:117611794 [GRCh38]
Chr7:117251848 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.3(CFTR):c.3364delA (p.Thr1122Glnfs) deletion Cystic fibrosis [RCV000046871] Chr7:117611805 [GRCh38]
Chr7:117251859 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.3367+2T>C single nucleotide variant Cystic fibrosis [RCV000046872] Chr7:117611810 [GRCh38]
Chr7:117251864 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3367+6A>G single nucleotide variant Cystic fibrosis [RCV000577283] Chr7:117611814 [GRCh38]
Chr7:117251868 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.3367G>C (p.Gly1123Arg) single nucleotide variant Cystic fibrosis [RCV000577544] Chr7:117611808 [GRCh38]
Chr7:117251862 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3368-1G>A single nucleotide variant Cystic fibrosis [RCV005200642] Chr7:117614612 [GRCh38]
Chr7:117254666 [GRCh37]
Chr7:7q31.2
likely pathogenic|not provided
NM_000492.4(CFTR):c.3371_3373del (p.Glu1124del) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV002483056]|Cystic fibrosis [RCV000577000]|not specified [RCV001804780] Chr7:117614614..117614616 [GRCh38]
Chr7:117254668..117254670 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.3382A>T (p.Arg1128Ter) single nucleotide variant CFTR-related disorder [RCV001832867]|Cystic fibrosis [RCV001731142] Chr7:117614627 [GRCh38]
Chr7:117254681 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3389G>C (p.Gly1130Ala) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002483057]|Cystic fibrosis [RCV000577261]|not provided [RCV001508224]|not specified [RCV003230382] Chr7:117614634 [GRCh38]
Chr7:117254688 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.3(CFTR):c.338A>T (p.Asn113Ile) single nucleotide variant Cystic fibrosis [RCV000046879] Chr7:117530963 [GRCh38]
Chr7:117171017 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3400_3401delinsGTA (p.Thr1134fs) indel Cystic fibrosis [RCV001009406] Chr7:117614645..117614646 [GRCh38]
Chr7:117254699..117254700 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474578]|Cystic fibrosis [RCV000577660]|Infertility disorder [RCV001327955]|not provided [RCV002223781]|not specified [RCV000590826] Chr7:117614654 [GRCh38]
Chr7:117254708 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.3(CFTR):c.340A>T (p.Lys114Ter) single nucleotide variant Cystic fibrosis [RCV000046882] Chr7:117530965 [GRCh38]
Chr7:117171019 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3410T>G (p.Met1137Arg) single nucleotide variant Cystic fibrosis [RCV000577123] Chr7:117614655 [GRCh38]
Chr7:117254709 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005042144]|CFTR-related disorder [RCV002281552]|Cystic fibrosis [RCV001857385]|not provided [RCV000727469]|not specified [RCV000508519] Chr7:117614660 [GRCh38]
Chr7:117254714 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.3419_3421del (p.Met1140del) deletion Cystic fibrosis [RCV000577383]|Cystic fibrosis [RCV001009521] Chr7:117614663..117614665 [GRCh38]
Chr7:117254717..117254719 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3419T>A (p.Met1140Lys) single nucleotide variant Cystic fibrosis [RCV000576944]|Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis [RCV004018953] Chr7:117614664 [GRCh38]
Chr7:117254718 [GRCh37]
Chr7:7q31.2
likely pathogenic|not provided
NM_000492.4(CFTR):c.3421_3424dup (p.Thr1142fs) duplication Cystic fibrosis [RCV000757816] Chr7:117614665..117614666 [GRCh38]
Chr7:117254719..117254720 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3430C>T (p.Gln1144Ter) single nucleotide variant CFTR-related disorder [RCV001826664]|Cystic fibrosis [RCV001389828] Chr7:117614675 [GRCh38]
Chr7:117254729 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3435G>A (p.Trp1145Ter) single nucleotide variant CFTR-related disorder [RCV001826665]|Cystic fibrosis [RCV000576362]|not provided [RCV001811326] Chr7:117614680 [GRCh38]
Chr7:117254734 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3439G>A (p.Val1147Ile) single nucleotide variant Cystic fibrosis [RCV000577262]|not specified [RCV004689434] Chr7:117614684 [GRCh38]
Chr7:117254738 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.342GGA[1] (p.Glu116del) microsatellite Cystic fibrosis [RCV000577636] Chr7:117530966..117530968 [GRCh38]
Chr7:117171020..117171022 [GRCh37]
Chr7:7q31.2
likely pathogenic|not provided
NM_000492.3(CFTR):c.3443A>G (p.Asn1148Ser) single nucleotide variant Cystic fibrosis [RCV000046892] Chr7:117614688 [GRCh38]
Chr7:117254742 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3444C>A (p.Asn1148Lys) single nucleotide variant CFTR-related disorder [RCV001826666]|Cystic fibrosis [RCV000670179]|Hereditary pancreatitis [RCV001197964]|not provided [RCV004799765]|not specified [RCV001532974] Chr7:117614689 [GRCh38]
Chr7:117254743 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.3(CFTR):c.3445delT (p.Ser1149Profs) deletion Cystic fibrosis [RCV000046894] Chr7:117614690 [GRCh38]
Chr7:117254744 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3458T>A (p.Val1153Glu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474579]|CFTR-related disorder [RCV001009502]|Cystic fibrosis [RCV000577089]|not provided [RCV001508225]|not specified [RCV004689435] Chr7:117614703 [GRCh38]
Chr7:117254757 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.3460G>T (p.Asp1154Tyr) single nucleotide variant CFTR-related disorder [RCV004734609]|Cystic fibrosis [RCV000671150]|not specified [RCV005055548] Chr7:117614705 [GRCh38]
Chr7:117254759 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.3461A>G (p.Asp1154Gly) single nucleotide variant CFTR-related disorder [RCV001009503]|Cystic fibrosis [RCV000577763]|not provided [RCV004700332]|not specified [RCV003235017] Chr7:117614706 [GRCh38]
Chr7:117254760 [GRCh37]
Chr7:7q31.2
pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474580]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005042145]|CFTR-related disorder [RCV001826667]|Cystic fibrosis [RCV000046899]|Cystic fibrosis [RCV001009370]|not provided [RCV000428306] Chr7:117614713 [GRCh38]
Chr7:117254767 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.3469-17T>C single nucleotide variant Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV004795983]|Cystic fibrosis [RCV001082947]|not provided [RCV000726749]|not specified [RCV000245337] Chr7:117627505 [GRCh38]
Chr7:117267559 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.3469-2A>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003466911]|CFTR-related disorder [RCV001831775]|Cystic fibrosis [RCV000577266] Chr7:117627520 [GRCh38]
Chr7:117267574 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.3(CFTR):c.3469_3717del249 (p.Met1157_Arg1239del) deletion Cystic fibrosis [RCV000046903] Chr7:117627522..117627770 [GRCh38]
Chr7:117267576..117267824 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005031512]|Cystic fibrosis [RCV000577691]|Cystic fibrosis [RCV002281553]|not provided [RCV000755922] Chr7:117530971 [GRCh38]
Chr7:117171025 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.346G>C (p.Glu116Gln) single nucleotide variant Cystic fibrosis [RCV003508838]|not specified [RCV004765886] Chr7:117530971 [GRCh38]
Chr7:117171025 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.3475T>C (p.Ser1159Pro) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474581]|Cystic fibrosis [RCV000785634] Chr7:117627528 [GRCh38]
Chr7:117267582 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe) single nucleotide variant Cystic fibrosis [RCV000577354] Chr7:117627529 [GRCh38]
Chr7:117267583 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3481A>C (p.Ser1161Arg) single nucleotide variant Cystic fibrosis [RCV000577699] Chr7:117627534 [GRCh38]
Chr7:117267588 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3486_3487del (p.Val1163fs) deletion Cystic fibrosis [RCV000577078] Chr7:117627538..117627539 [GRCh38]
Chr7:117267592..117267593 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3497T>G (p.Phe1166Cys) single nucleotide variant Cystic fibrosis [RCV000577397]|not specified [RCV003993778] Chr7:117627550 [GRCh38]
Chr7:117267604 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474582]|CFTR-related disorder [RCV002281554]|Cystic fibrosis [RCV000670642]|not provided [RCV001811327] Chr7:117530974 [GRCh38]
Chr7:117171028 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records|not provided
NM_000492.4(CFTR):c.3503A>G (p.Asp1168Gly) single nucleotide variant Cystic fibrosis [RCV002453356]|not provided [RCV000592921]|not specified [RCV003235018] Chr7:117627556 [GRCh38]
Chr7:117267610 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.350G>C (p.Arg117Pro) single nucleotide variant Cystic fibrosis [RCV000577567]|not provided [RCV001563129] Chr7:117530975 [GRCh38]
Chr7:117171029 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474583]|Cystic fibrosis [RCV000577295]|Cystic fibrosis [RCV003483455]|not provided [RCV000985692] Chr7:117530975 [GRCh38]
Chr7:117171029 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records|not provided
NM_000492.4(CFTR):c.3529A>T (p.Lys1177Ter) single nucleotide variant Cystic fibrosis [RCV000577595] Chr7:117627582 [GRCh38]
Chr7:117267636 [GRCh37]
Chr7:7q31.2
likely pathogenic|not provided
NM_000492.4(CFTR):c.3530del (p.Lys1177fs) deletion CFTR-related disorder [RCV001835665]|Cystic fibrosis [RCV000577604]|not provided [RCV000757086] Chr7:117627582 [GRCh38]
Chr7:117267636 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.3(CFTR):c.3535_3538delACCA (p.Thr1179Asnfs) deletion Cystic fibrosis [RCV000046923] Chr7:117627588..117627591 [GRCh38]
Chr7:117267642..117267645 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3540del (p.Lys1180fs) deletion Cystic fibrosis [RCV001193676] Chr7:117627591 [GRCh38]
Chr7:117267645 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3546C>G (p.Tyr1182Ter) single nucleotide variant Cystic fibrosis [RCV001852981]|not specified [RCV000781268] Chr7:117627599 [GRCh38]
Chr7:117267653 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.3556C>T (p.Gln1186Ter) single nucleotide variant Cystic fibrosis [RCV002284587] Chr7:117627609 [GRCh38]
Chr7:117267663 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.357delC (p.Ile119Metfs) deletion Cystic fibrosis [RCV000046927] Chr7:117530982 [GRCh38]
Chr7:117171036 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.3584A>C (p.Asn1195Thr) single nucleotide variant Cystic fibrosis [RCV000046928] Chr7:117627637 [GRCh38]
Chr7:117267691 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474584]|Cystic fibrosis [RCV000577110]|Infertility disorder [RCV001327956]|not provided [RCV000587814]|not specified [RCV001731339] Chr7:117530983 [GRCh38]
Chr7:117171037 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.3592del (p.His1197_Val1198insTer) deletion Cystic fibrosis [RCV000577115] Chr7:117627645 [GRCh38]
Chr7:117267699 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3600A>G (p.Lys1200=) single nucleotide variant Cystic fibrosis [RCV000576909] Chr7:117627653 [GRCh38]
Chr7:117267707 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3605del (p.Asp1202fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV005031513]|CFTR-related disorder [RCV001831776]|Cystic fibrosis [RCV000046933] Chr7:117627658 [GRCh38]
Chr7:117267712 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3607A>G (p.Ile1203Val) single nucleotide variant CFTR-related disorder [RCV001831777]|Cystic fibrosis [RCV000757853]|not provided [RCV000589513]|not specified [RCV003317063] Chr7:117627660 [GRCh38]
Chr7:117267714 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.3617C>A (p.Ser1206Ter) single nucleotide variant Cystic fibrosis [RCV001009399] Chr7:117627670 [GRCh38]
Chr7:117267724 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3617C>G (p.Ser1206Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005042146]|Cystic fibrosis [RCV000577418]|Cystic fibrosis [RCV001009531] Chr7:117627670 [GRCh38]
Chr7:117267724 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.3618_3619del (p.Gly1208fs) deletion CFTR-related disorder [RCV001826669]|Cystic fibrosis [RCV000577425] Chr7:117627671..117627672 [GRCh38]
Chr7:117267725..117267726 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3623del (p.Gly1208fs) deletion Cystic fibrosis [RCV001009400] Chr7:117627672 [GRCh38]
Chr7:117267726 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.3(CFTR):c.3629T>A (p.Met1210Lys) single nucleotide variant Cystic fibrosis [RCV000046941] Chr7:117627682 [GRCh38]
Chr7:117267736 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.3634G>A (p.Val1212Ile) single nucleotide variant Cystic fibrosis [RCV000046942] Chr7:117627687 [GRCh38]
Chr7:117267741 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.364T>C (p.Tyr122His) single nucleotide variant Cystic fibrosis [RCV000577490] Chr7:117530989 [GRCh38]
Chr7:117171043 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3680T>C (p.Leu1227Ser) single nucleotide variant CFTR-related disorder [RCV001831778]|Cystic fibrosis [RCV000577748]|not specified [RCV001844027] Chr7:117627733 [GRCh38]
Chr7:117267787 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.3713A>G (p.Gln1238Arg) single nucleotide variant Cystic fibrosis [RCV000674638]|not provided [RCV000985693]|not specified [RCV003478987] Chr7:117627766 [GRCh38]
Chr7:117267820 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.3717+40A>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474586]|CFTR-related disorder [RCV001826670]|Cystic fibrosis [RCV000576505]|Cystic fibrosis [RCV001009536]|not provided [RCV000727551] Chr7:117627810 [GRCh38]
Chr7:117267864 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.3717+45G>A single nucleotide variant Cystic fibrosis [RCV000577129]|not provided [RCV003114233]|not specified [RCV000591755] Chr7:117627815 [GRCh38]
Chr7:117267869 [GRCh37]
Chr7:7q31.2
benign|likely benign|not provided
NM_000492.4(CFTR):c.3717G>A (p.Arg1239=) single nucleotide variant Cystic fibrosis [RCV000576710] Chr7:117627770 [GRCh38]
Chr7:117267824 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3718-24_3873+601del deletion Cystic fibrosis [RCV000576946] Chr7:117642411..117643191 [GRCh38]
Chr7:117282465..117283245 [GRCh37]
Chr7:7q31.2
likely pathogenic|not provided
NM_000492.4(CFTR):c.3718-3T>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003466912]|Cystic fibrosis [RCV000046958] Chr7:117642435 [GRCh38]
Chr7:117282489 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3718-79T>C single nucleotide variant Cystic fibrosis [RCV001492533] Chr7:117642359 [GRCh38]
Chr7:117282413 [GRCh37]
Chr7:7q31.2
likely benign|not provided
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly) single nucleotide variant Cystic fibrosis [RCV000577207] Chr7:117642439 [GRCh38]
Chr7:117282493 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3730G>A (p.Gly1244Arg) single nucleotide variant Cystic fibrosis [RCV001387159] Chr7:117642450 [GRCh38]
Chr7:117282504 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3731G>T (p.Gly1244Val) single nucleotide variant Cystic fibrosis [RCV000577733] Chr7:117642451 [GRCh38]
Chr7:117282505 [GRCh37]
Chr7:7q31.2
likely pathogenic|not provided
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474588]|CFTR-related disorder [RCV002281555]|Cystic fibrosis [RCV000668850]|not provided [RCV001811328] Chr7:117642457 [GRCh38]
Chr7:117282511 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.3(CFTR):c.3739G>C (p.Gly1247Arg) single nucleotide variant Cystic fibrosis [RCV000046965] Chr7:117642459 [GRCh38]
Chr7:117282513 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3745G>A (p.Gly1249Arg) single nucleotide variant CFTR-related disorder [RCV001826671]|Cystic fibrosis [RCV000577065] Chr7:117642465 [GRCh38]
Chr7:117282519 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr) single nucleotide variant CFTR-related disorder [RCV001163272]|Cystic fibrosis [RCV001081823]|not provided [RCV001509309]|not specified [RCV000595646] Chr7:117530999 [GRCh38]
Chr7:117171053 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.3754A>C (p.Thr1252Pro) single nucleotide variant Cystic fibrosis [RCV000577768] Chr7:117642474 [GRCh38]
Chr7:117282528 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.3759G>C (p.Leu1253Phe) single nucleotide variant Cystic fibrosis [RCV000046972] Chr7:117642479 [GRCh38]
Chr7:117282533 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3761T>G (p.Leu1254Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474589]|CFTR-related disorder [RCV001826672]|Cystic fibrosis [RCV000046973]|Cystic fibrosis [RCV001004506]|not provided [RCV004767042] Chr7:117642481 [GRCh38]
Chr7:117282535 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3764C>T (p.Ser1255Leu) single nucleotide variant Cystic fibrosis [RCV000577299]|not specified [RCV003987340] Chr7:117642484 [GRCh38]
Chr7:117282538 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.376G>A (p.Gly126Ser) single nucleotide variant Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001580452]|Cystic fibrosis [RCV000577162]|not specified [RCV002281737] Chr7:117531001 [GRCh38]
Chr7:117171055 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu) single nucleotide variant Cystic fibrosis [RCV000046979] Chr7:117642491 [GRCh38]
Chr7:117282545 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000492.4(CFTR):c.3773dup (p.Leu1258fs) duplication Bronchiectasis with or without elevated sweat chloride 1 [RCV003473242]|CFTR-related disorder [RCV001826531]|Cystic fibrosis [RCV000046980]|Cystic fibrosis [RCV001004507]|not provided [RCV001530038] Chr7:117642487..117642488 [GRCh38]
Chr7:117282541..117282542 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474590]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031514]|CFTR-related disorder [RCV002228161]|Cystic fibrosis [RCV000577044]|Cystic fibrosis [RCV001004429]|Cystic fibrosis [RCV002281556]|not provided [RCV003736567] Chr7:117531002 [GRCh38]
Chr7:117171056 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.3777ACT[1] (p.Leu1261del) microsatellite Cystic fibrosis [RCV000577419] Chr7:117642497..117642499 [GRCh38]
Chr7:117282551..117282553 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3808G>T (p.Asp1270Tyr) single nucleotide variant Cystic fibrosis [RCV004823137]|ivacaftor response - Efficacy [RCV003228704] Chr7:117642528 [GRCh38]
Chr7:117282582 [GRCh37]
Chr7:7q31.2
drug response|uncertain significance|not provided
NM_000492.4(CFTR):c.380T>G (p.Leu127Ter) single nucleotide variant Cystic fibrosis [RCV000577580] Chr7:117531005 [GRCh38]
Chr7:117171059 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3816_3817del (p.Ser1273fs) microsatellite Cystic fibrosis [RCV000577251] Chr7:117642532..117642533 [GRCh38]
Chr7:117282586..117282587 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3822G>A (p.Trp1274Ter) single nucleotide variant CFTR-related disorder [RCV001826673]|Cystic fibrosis [RCV000577787] Chr7:117642542 [GRCh38]
Chr7:117282596 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3829del (p.Ser1276_Ile1277insTer) deletion Cystic fibrosis [RCV000577107] Chr7:117642548 [GRCh38]
Chr7:117282602 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter) single nucleotide variant Cystic fibrosis [RCV000577368] Chr7:117642561 [GRCh38]
Chr7:117282615 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.3844T>C (p.Trp1282Arg) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474591]|Cystic fibrosis [RCV000577632] Chr7:117642564 [GRCh38]
Chr7:117282618 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3844T>G (p.Trp1282Gly) single nucleotide variant Cystic fibrosis [RCV000577082] Chr7:117642564 [GRCh38]
Chr7:117282618 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3848G>A (p.Arg1283Lys) single nucleotide variant CFTR-related disorder [RCV001826674]|Cystic fibrosis [RCV002354241]|not specified [RCV000506393] Chr7:117642568 [GRCh38]
Chr7:117282622 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val) single nucleotide variant CFTR-related disorder [RCV004537230]|Cystic fibrosis [RCV000577447]|Hereditary pancreatitis [RCV003448254]|not provided [RCV001507714]|not specified [RCV000585919] Chr7:117642574 [GRCh38]
Chr7:117282628 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.3855del (p.Phe1286fs) deletion Cystic fibrosis [RCV000577182] Chr7:117642574 [GRCh38]
Chr7:117282628 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3868C>T (p.Pro1290Ser) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005031515]|Cystic fibrosis [RCV000577136] Chr7:117642588 [GRCh38]
Chr7:117282642 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.3871C>T (p.Gln1291Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474592]|Cystic fibrosis [RCV000577232] Chr7:117642591 [GRCh38]
Chr7:117282645 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3872A>G (p.Gln1291Arg) single nucleotide variant Cystic fibrosis [RCV000664625]|Cystic fibrosis [RCV001009375]|not specified [RCV000506407] Chr7:117642592 [GRCh38]
Chr7:117282646 [GRCh37]
Chr7:7q31.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.3873+2T>C single nucleotide variant CFTR-related disorder [RCV001831780]|Cystic fibrosis [RCV000576323]|not provided [RCV001507715] Chr7:117642595 [GRCh38]
Chr7:117282649 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3873+33A>G single nucleotide variant Cystic fibrosis [RCV000577500] Chr7:117642626 [GRCh38]
Chr7:117282680 [GRCh37]
Chr7:7q31.2
likely benign|not provided
NM_000492.4(CFTR):c.3874-14C>G single nucleotide variant Cystic fibrosis [RCV000669170] Chr7:117652828 [GRCh38]
Chr7:117292882 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.3874-27TTC[2] microsatellite Cystic fibrosis [RCV001447352]|not provided [RCV001811329] Chr7:117652815..117652817 [GRCh38]
Chr7:117292869..117292871 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|not provided
NM_000492.4(CFTR):c.3874-1G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474593]|Cystic fibrosis [RCV000577716] Chr7:117652841 [GRCh38]
Chr7:117292895 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.3874-4A>G single nucleotide variant CFTR-related disorder [RCV001158875]|Cystic fibrosis [RCV000665032] Chr7:117652838 [GRCh38]
Chr7:117292892 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.3874-8T>A single nucleotide variant Cystic fibrosis [RCV000757870] Chr7:117652834 [GRCh38]
Chr7:117292888 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.3(CFTR):c.3876delA (p.Val1293Tyrfs) deletion Cystic fibrosis [RCV000047012] Chr7:117652844 [GRCh38]
Chr7:117292898 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.387del (p.Leu130fs) deletion Cystic fibrosis [RCV000577759] Chr7:117531011 [GRCh38]
Chr7:117171065 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.3882_3885delTATT (p.Ile1295Phefs) deletion Cystic fibrosis [RCV000047014] Chr7:117652850..117652853 [GRCh38]
Chr7:117292904..117292907 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3883_3886del (p.Ile1295fs) microsatellite Bronchiectasis with or without elevated sweat chloride 1 [RCV003474594]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031516]|CFTR-related disorder [RCV001831781]|Cystic fibrosis [RCV000047015]|not provided [RCV004998162] Chr7:117652846..117652849 [GRCh38]
Chr7:117292900..117292903 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3883del (p.Ile1295fs) deletion CFTR-related disorder [RCV001826675]|Cystic fibrosis [RCV000047016] Chr7:117652851 [GRCh38]
Chr7:117292905 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs) duplication Bronchiectasis with or without elevated sweat chloride 1 [RCV003474595]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031517]|CFTR-related disorder [RCV001826676]|Cystic fibrosis [RCV000047018]|Cystic fibrosis [RCV001004511]|not provided [RCV000507350] Chr7:117652851..117652852 [GRCh38]
Chr7:117292905..117292906 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.388C>G (p.Leu130Val) single nucleotide variant CFTR-related disorder [RCV001831782]|Cystic fibrosis [RCV001308205]|not provided [RCV002477158] Chr7:117531013 [GRCh38]
Chr7:117171067 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile) single nucleotide variant CFTR-related disorder [RCV001831784]|Cystic fibrosis [RCV000577585]|not provided [RCV001507716]|not specified [RCV001002282] Chr7:117652864 [GRCh38]
Chr7:117292918 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474596]|Cystic fibrosis [RCV000577001]|Cystic fibrosis [RCV001004226]|not provided [RCV000759040] Chr7:117480132 [GRCh38]
Chr7:117120186 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.3908A>T (p.Asn1303Ile) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566879]|CFTR-related disorder [RCV001009506]|Cystic fibrosis [RCV000577150]|Cystic fibrosis [RCV001004512]|not provided [RCV001530074] Chr7:117652876 [GRCh38]
Chr7:117292930 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.3908del (p.Asn1303fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV004566880]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031518]|CFTR-related disorder [RCV001831785]|Cystic fibrosis [RCV000047026] Chr7:117652871 [GRCh38]
Chr7:117292925 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3908dup (p.Asn1303fs) duplication CFTR-related disorder [RCV001826677]|Cystic fibrosis [RCV000577524] Chr7:117652870..117652871 [GRCh38]
Chr7:117292924..117292925 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.3909_3914delCTTGGAinsTGT (p.Leu1304_Asp1305delinsVal) indel Cystic fibrosis [RCV000047029] Chr7:117652877..117652882 [GRCh38]
Chr7:117292931..117292936 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3915T>A (p.Asp1305Glu) single nucleotide variant Cystic fibrosis [RCV000577203]|not specified [RCV003330415] Chr7:117652883 [GRCh38]
Chr7:117292937 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.3918C>T (p.Pro1306=) single nucleotide variant Cystic fibrosis [RCV000576982] Chr7:117652886 [GRCh38]
Chr7:117292940 [GRCh37]
Chr7:7q31.2
likely benign|not provided
NM_000492.4(CFTR):c.3920A>G (p.Tyr1307Cys) single nucleotide variant Cystic fibrosis [RCV000577581] Chr7:117652888 [GRCh38]
Chr7:117292942 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3921T>A (p.Tyr1307Ter) single nucleotide variant Cystic fibrosis [RCV000576926] Chr7:117652889 [GRCh38]
Chr7:117292943 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3922G>T (p.Glu1308Ter) single nucleotide variant Cystic fibrosis [RCV000577670] Chr7:117652890 [GRCh38]
Chr7:117292944 [GRCh37]
Chr7:7q31.2
likely pathogenic|not provided
NM_000492.3(CFTR):c.3927G>T (p.Gln1309His) single nucleotide variant Cystic fibrosis [RCV000047035] Chr7:117652895 [GRCh38]
Chr7:117292949 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3929G>A (p.Trp1310Ter) single nucleotide variant CFTR-related disorder [RCV001831786]|Cystic fibrosis [RCV000047036] Chr7:117652897 [GRCh38]
Chr7:117292951 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.3935A>G (p.Asp1312Gly) single nucleotide variant CFTR-related disorder [RCV001831787]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV002288552]|Cystic fibrosis [RCV000672048]|not provided [RCV003480045]|not specified [RCV000506831] Chr7:117652903 [GRCh38]
Chr7:117292957 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.3937C>A (p.Gln1313Lys) single nucleotide variant Cystic fibrosis [RCV000672177]|not specified [RCV003478988] Chr7:117652905 [GRCh38]
Chr7:117292959 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.393del (p.Phe131fs) deletion Cystic fibrosis [RCV000576979] Chr7:117531016 [GRCh38]
Chr7:117171070 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3953T>C (p.Val1318Ala) single nucleotide variant Cystic fibrosis [RCV000666104]|not specified [RCV001731340] Chr7:117652921 [GRCh38]
Chr7:117292975 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.3956C>A (p.Ala1319Glu) single nucleotide variant Cystic fibrosis [RCV002284605] Chr7:117652924 [GRCh38]
Chr7:117292978 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.3963+2T>A single nucleotide variant Cystic fibrosis [RCV000577173] Chr7:117652933 [GRCh38]
Chr7:117292987 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3964-28G>A single nucleotide variant Cystic fibrosis [RCV000577518] Chr7:117664660 [GRCh38]
Chr7:117304714 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.3964-3C>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474597]|Cystic fibrosis [RCV000577488] Chr7:117664685 [GRCh38]
Chr7:117304739 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000492.4(CFTR):c.3971T>C (p.Leu1324Pro) single nucleotide variant Cystic fibrosis [RCV000576921] Chr7:117664695 [GRCh38]
Chr7:117304749 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3976del (p.Ser1326fs) deletion Cystic fibrosis [RCV000577015] Chr7:117664700 [GRCh38]
Chr7:117304754 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3982_3984delinsTT (p.Ile1328fs) indel Cystic fibrosis [RCV000577275] Chr7:117664706..117664708 [GRCh38]
Chr7:117304760..117304762 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3985G>C (p.Glu1329Gln) single nucleotide variant Cystic fibrosis [RCV000577649] Chr7:117664709 [GRCh38]
Chr7:117304763 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3G>A (p.Met1Ile) single nucleotide variant Cystic fibrosis [RCV000757844] Chr7:117480097 [GRCh38]
Chr7:117120151 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3G>T (p.Met1Ile) single nucleotide variant Cystic fibrosis [RCV000577343] Chr7:117480097 [GRCh38]
Chr7:117120151 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.4003C>T (p.Leu1335Phe) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002477159]|CFTR-related disorder [RCV001831788]|Cystic fibrosis [RCV000577004]|not specified [RCV001000929] Chr7:117664727 [GRCh38]
Chr7:117304781 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474598]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031519]|CFTR-related disorder [RCV002228162]|Cystic fibrosis [RCV000047055] Chr7:117664728 [GRCh38]
Chr7:117304782 [GRCh37]
Chr7:7q31.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.4009T>G (p.Phe1337Val) single nucleotide variant Cystic fibrosis [RCV000577312]|not provided [RCV003325454]|not specified [RCV003323375] Chr7:117664733 [GRCh38]
Chr7:117304787 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.4015C>T (p.Leu1339Phe) single nucleotide variant Cystic fibrosis [RCV000577245]|not specified [RCV003330416] Chr7:117664739 [GRCh38]
Chr7:117304793 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.4025_4028dup (p.Cys1344fs) duplication Cystic fibrosis [RCV000577503] Chr7:117664747..117664748 [GRCh38]
Chr7:117304801..117304802 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.4036_4042del (p.Leu1346fs) deletion CFTR-related disorder [RCV001826678]|Cystic fibrosis [RCV000785642] Chr7:117664759..117664765 [GRCh38]
Chr7:117304813..117304819 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.4040_4041del (p.Ser1347fs) deletion Cystic fibrosis [RCV000577627] Chr7:117664764..117664765 [GRCh38]
Chr7:117304818..117304819 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.4042del (p.His1348fs) deletion Cystic fibrosis [RCV000577656] Chr7:117664765 [GRCh38]
Chr7:117304819 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.4045G>A (p.Gly1349Ser) single nucleotide variant Cystic fibrosis [RCV001272366]|not provided [RCV000295222]|not specified [RCV000780113] Chr7:117664769 [GRCh38]
Chr7:117304823 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.4051A>G (p.Lys1351Glu) single nucleotide variant Cystic fibrosis [RCV000577427] Chr7:117664775 [GRCh38]
Chr7:117304829 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.4071_4073delinsAA (p.Arg1358fs) indel Cystic fibrosis [RCV002284250] Chr7:117664795..117664797 [GRCh38]
Chr7:117304849..117304851 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val) single nucleotide variant CFTR-related disorder [RCV004537232]|Cystic fibrosis [RCV000576913]|Hereditary pancreatitis [RCV000761478]|not provided [RCV003480046]|not specified [RCV000781271] Chr7:117664815 [GRCh38]
Chr7:117304869 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.409_412del (p.Leu137fs) deletion Cystic fibrosis [RCV000577216] Chr7:117531034..117531037 [GRCh38]
Chr7:117171088..117171091 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.409del (p.Leu137fs) deletion CFTR-related disorder [RCV001826679]|Cystic fibrosis [RCV000047072] Chr7:117531034 [GRCh38]
Chr7:117171088 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.40A>T (p.Lys14Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003466913]|Cystic fibrosis [RCV001009425] Chr7:117480134 [GRCh38]
Chr7:117120188 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.410T>A (p.Leu137His) single nucleotide variant Cystic fibrosis [RCV000577586] Chr7:117531035 [GRCh38]
Chr7:117171089 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.410T>G (p.Leu137Arg) single nucleotide variant Cystic fibrosis [RCV000047075] Chr7:117531035 [GRCh38]
Chr7:117171089 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter) single nucleotide variant Cystic fibrosis [RCV000047076]|not provided [RCV002477160]|not specified [RCV000780149] Chr7:117664835 [GRCh38]
Chr7:117304889 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.4114C>A (p.Pro1372Thr) single nucleotide variant Cystic fibrosis [RCV002323436]|not specified [RCV003987999] Chr7:117664838 [GRCh38]
Chr7:117304892 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.4115C>T (p.Pro1372Leu) single nucleotide variant Cystic fibrosis [RCV001857386]|not specified [RCV000507855] Chr7:117664839 [GRCh38]
Chr7:117304893 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.4123C>A (p.His1375Asn) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002490614]|CFTR-related disorder [RCV001831789]|Cystic fibrosis [RCV000047079]|Hereditary pancreatitis [RCV002256033]|not provided [RCV000731229]|not specified [RCV003235019] Chr7:117664847 [GRCh38]
Chr7:117304901 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.4124A>C (p.His1375Pro) single nucleotide variant Cystic fibrosis [RCV000757787] Chr7:117664848 [GRCh38]
Chr7:117304902 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.4129G>C (p.Asp1377His) single nucleotide variant CFTR-related disorder [RCV001009485]|Cystic fibrosis [RCV001852982]|not provided [RCV000300236]|not specified [RCV003488366] Chr7:117664853 [GRCh38]
Chr7:117304907 [GRCh37]
Chr7:7q31.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.412_413insACT (p.Leu137_Leu138insHis) insertion Cystic fibrosis [RCV002284576] Chr7:117531037..117531038 [GRCh38]
Chr7:117171091..117171092 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.4139del (p.Thr1380fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003474599]|Cystic fibrosis [RCV000577744] Chr7:117665461 [GRCh38]
Chr7:117305515 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.4140delA (p.Tyr1381Thrfs) deletion Cystic fibrosis [RCV000047084] Chr7:117665462 [GRCh38]
Chr7:117305516 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.4141T>C (p.Tyr1381His) single nucleotide variant Cystic fibrosis [RCV000577023]|not specified [RCV003398629] Chr7:117665463 [GRCh38]
Chr7:117305517 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.4143C>A (p.Tyr1381Ter) single nucleotide variant Cystic fibrosis [RCV000576942] Chr7:117665465 [GRCh38]
Chr7:117305519 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.4144C>T (p.Gln1382Ter) single nucleotide variant CFTR-related disorder [RCV001826680]|Cystic fibrosis [RCV000047087]|not provided [RCV001091002] Chr7:117665466 [GRCh38]
Chr7:117305520 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.4147dup (p.Ile1383fs) duplication CFTR-related disorder [RCV001826681]|Cystic fibrosis [RCV000047088] Chr7:117665466..117665467 [GRCh38]
Chr7:117305520..117305521 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup) duplication Bronchiectasis with or without elevated sweat chloride 1 [RCV004566881]|Cystic fibrosis [RCV000577362]|not provided [RCV001509310] Chr7:117531036..117531037 [GRCh38]
Chr7:117171090..117171091 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.415_416insGA (p.His139Argfs) insertion Cystic fibrosis [RCV000047091] Chr7:117531040..117531041 [GRCh38]
Chr7:117171094..117171095 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.4163T>A (p.Leu1388Gln) single nucleotide variant Cystic fibrosis [RCV000577326] Chr7:117665485 [GRCh38]
Chr7:117305539 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.4168C>T (p.Gln1390Ter) single nucleotide variant Cystic fibrosis [RCV001009422] Chr7:117665490 [GRCh38]
Chr7:117305544 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.416A>G (p.His139Arg) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474600]|Cystic fibrosis [RCV000577519] Chr7:117531041 [GRCh38]
Chr7:117171095 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.416A>T (p.His139Leu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003466914]|Cystic fibrosis [RCV000577674]|not provided [RCV000985694] Chr7:117531041 [GRCh38]
Chr7:117171095 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records|not provided
NM_000492.3(CFTR):c.4170delA (p.Ala1391Hisfs) deletion Cystic fibrosis [RCV000047096] Chr7:117665492 [GRCh38]
Chr7:117305546 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.418C>T (p.Pro140Ser) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000765922]|Bronchiectasis with or without elevated sweat chloride 1 [RCV004566882]|CFTR-related disorder [RCV001163274]|Cystic fibrosis [RCV001272206]|Hereditary pancreatitis [RCV002257390]|not provided [RCV000590469]|not specified [RCV000506712] Chr7:117531043 [GRCh38]
Chr7:117171097 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.4190T>A (p.Val1397Glu) single nucleotide variant Cystic fibrosis [RCV000577531] Chr7:117665512 [GRCh38]
Chr7:117305566 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser) single nucleotide variant Cystic fibrosis [RCV001272369]|not specified [RCV000781272] Chr7:117665515 [GRCh38]
Chr7:117305569 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.3(CFTR):c.4196_4197delTC (p.Cys1400Terfs) deletion Cystic fibrosis [RCV000047100] Chr7:117665518..117665519 [GRCh38]
Chr7:117305572..117305573 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.419C>T (p.Pro140Leu) single nucleotide variant Cystic fibrosis [RCV001325710] Chr7:117531044 [GRCh38]
Chr7:117171098 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.4200_4201del (p.Cys1400_Glu1401delinsTer) microsatellite Bronchiectasis with or without elevated sweat chloride 1 [RCV005042147]|Cystic fibrosis [RCV001009423] Chr7:117665520..117665521 [GRCh38]
Chr7:117305574..117305575 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.4201G>A (p.Glu1401Lys) single nucleotide variant Cystic fibrosis [RCV000577736] Chr7:117665523 [GRCh38]
Chr7:117305577 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.4201G>T (p.Glu1401Ter) single nucleotide variant Cystic fibrosis [RCV000577074] Chr7:117665523 [GRCh38]
Chr7:117305577 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.4202A>C (p.Glu1401Ala) single nucleotide variant Cystic fibrosis [RCV000047105] Chr7:117665524 [GRCh38]
Chr7:117305578 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.4202A>G (p.Glu1401Gly) single nucleotide variant CFTR-related disorder [RCV001831790]|Cystic fibrosis [RCV000577394] Chr7:117665524 [GRCh38]
Chr7:117305578 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002504943]|Cystic fibrosis [RCV000576918]|not provided [RCV001811330]|not specified [RCV000781273] Chr7:117665547 [GRCh38]
Chr7:117305601 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.422C>A (p.Ala141Asp) single nucleotide variant Cystic fibrosis [RCV000577350] Chr7:117531047 [GRCh38]
Chr7:117171101 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000492.4(CFTR):c.4231C>T (p.Gln1411Ter) single nucleotide variant CFTR-related disorder [RCV001826682]|Cystic fibrosis [RCV000047110] Chr7:117665553 [GRCh38]
Chr7:117305607 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.4234C>T (p.Gln1412Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474601]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031521]|CFTR-related disorder [RCV001826683]|Cystic fibrosis [RCV000047111] Chr7:117665556 [GRCh38]
Chr7:117305610 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.4241T>C (p.Leu1414Ser) single nucleotide variant Cystic fibrosis [RCV000577238]|not provided [RCV000731653] Chr7:117665563 [GRCh38]
Chr7:117305617 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.4242+10T>C single nucleotide variant CFTR-related disorder [RCV001158877]|Cystic fibrosis [RCV001080172]|not provided [RCV001528665]|not specified [RCV000079004] Chr7:117665574 [GRCh38]
Chr7:117305628 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.4242+1G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002504944]|CFTR-related disorder [RCV001826684]|Cystic fibrosis [RCV000576317] Chr7:117665565 [GRCh38]
Chr7:117305619 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.4242+1G>T single nucleotide variant CFTR-related disorder [RCV001831791]|Cystic fibrosis [RCV000047115]|Cystic fibrosis [RCV001004307] Chr7:117665565 [GRCh38]
Chr7:117305619 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.3(CFTR):c.4243-1G>C single nucleotide variant Cystic fibrosis [RCV000047116] Chr7:117666907 [GRCh38]
Chr7:117306961 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.4243-2A>C single nucleotide variant Cystic fibrosis [RCV000047117] Chr7:117666906 [GRCh38]
Chr7:117306960 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.4252G>T (p.Glu1418Ter) single nucleotide variant Cystic fibrosis [RCV000047120] Chr7:117666917 [GRCh38]
Chr7:117306971 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.4264C>T (p.Arg1422Trp) single nucleotide variant Cystic fibrosis [RCV002332956]|not provided [RCV004999685]|not specified [RCV002281756] Chr7:117666929 [GRCh38]
Chr7:117306983 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.3:c.4268+2T>G single nucleotide variant Cystic fibrosis [RCV000047122] Chr7:7q31.2 not provided
NM_000492.4(CFTR):c.4276T>C (p.Ser1426Pro) single nucleotide variant CFTR-related disorder [RCV001009481]|Cystic fibrosis [RCV000665842]|not specified [RCV003317064] Chr7:117666941 [GRCh38]
Chr7:117306995 [GRCh37]
Chr7:7q31.2
pathogenic|uncertain significance|not provided
NM_000492.3(CFTR):c.4296_4297insGA (p.Ser1435Glyfs) insertion Cystic fibrosis [RCV000047124] Chr7:117666961..117666962 [GRCh38]
Chr7:117307015..117307016 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.42del (p.Lys14fs) deletion Cystic fibrosis [RCV000577255] Chr7:117480134 [GRCh38]
Chr7:117120188 [GRCh37]
Chr7:7q31.2
likely pathogenic|not provided
NM_000492.4(CFTR):c.4312C>T (p.Arg1438Trp) single nucleotide variant CFTR-related disorder [RCV004734610]|Cystic fibrosis [RCV000577681]|not specified [RCV001731341] Chr7:117666977 [GRCh38]
Chr7:117307031 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn) single nucleotide variant CFTR-related disorder [RCV004537233]|Cystic fibrosis [RCV000047128]|not provided [RCV000586730]|not specified [RCV000506986] Chr7:117666998 [GRCh38]
Chr7:117307052 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.434T>A (p.Leu145His) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003475690]|Cystic fibrosis [RCV004823160] Chr7:117531059 [GRCh38]
Chr7:117171113 [GRCh37]
Chr7:7q31.2
likely pathogenic|not provided
NM_000492.3(CFTR):c.437A>G (p.His146Arg) single nucleotide variant Cystic fibrosis [RCV000047131] Chr7:117531062 [GRCh38]
Chr7:117171116 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.43del (p.Leu15fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003474603]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031522]|Cystic fibrosis [RCV000577183] Chr7:117480137 [GRCh38]
Chr7:117120191 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.4417G>T (p.Glu1473Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002496714]|Cystic fibrosis [RCV000577497]|not specified [RCV000781256] Chr7:117667082 [GRCh38]
Chr7:117307136 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002477161]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003466915]|CFTR-related disorder [RCV001009479]|Cystic fibrosis [RCV000047135]|Cystic fibrosis [RCV001004311]|Hereditary pancreatitis [RCV002247439]|not provided [RCV000388068]|not specified [RCV000505964] Chr7:117667091 [GRCh38]
Chr7:117307145 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566883]|Cystic fibrosis [RCV000576960]|Cystic fibrosis [RCV001004430]|not provided [RCV000593590] Chr7:117531068 [GRCh38]
Chr7:117171122 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) single nucleotide variant CFTR-related disorder [RCV001095251]|Cystic fibrosis [RCV000047138]|not provided [RCV001705619]|not specified [RCV000079009] Chr7:117531068 [GRCh38]
Chr7:117171122 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.3(CFTR):c.444_445insCTA (p.Ile148_Gly149insLeu) insertion Cystic fibrosis [RCV000047139] Chr7:117531069..117531070 [GRCh38]
Chr7:117171123..117171124 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.445G>A (p.Gly149Arg) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003883127]|Cystic fibrosis [RCV000577096] Chr7:117531070 [GRCh38]
Chr7:117171124 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.446G>T (p.Gly149Val) single nucleotide variant Cystic fibrosis [RCV000047141] Chr7:117531071 [GRCh38]
Chr7:117171125 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.451C>A (p.Gln151Lys) single nucleotide variant CFTR-related disorder [RCV001163275]|Cystic fibrosis [RCV000047142]|not provided [RCV000734737]|not specified [RCV000781280] Chr7:117531076 [GRCh38]
Chr7:117171130 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.451C>T (p.Gln151Ter) single nucleotide variant Cystic fibrosis [RCV000577704] Chr7:117531076 [GRCh38]
Chr7:117171130 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.454A>G (p.Met152Val) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566884]|Cystic fibrosis [RCV000577102]|not provided [RCV004791248] Chr7:117531079 [GRCh38]
Chr7:117171133 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.455T>G (p.Met152Arg) single nucleotide variant Cystic fibrosis [RCV000577415] Chr7:117531080 [GRCh38]
Chr7:117171134 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.463G>C (p.Ala155Pro) single nucleotide variant Cystic fibrosis [RCV000577728] Chr7:117531088 [GRCh38]
Chr7:117171142 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.472A>C (p.Ser158Arg) single nucleotide variant Cystic fibrosis [RCV000047148] Chr7:117531097 [GRCh38]
Chr7:117171151 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.473G>C (p.Ser158Thr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002496715]|CFTR-related disorder [RCV001826688]|Cystic fibrosis [RCV000577008]|not provided [RCV001509311]|not specified [RCV001194312] Chr7:117531098 [GRCh38]
Chr7:117171152 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.3(CFTR):c.476T>A (p.Leu159Ter) single nucleotide variant Cystic fibrosis [RCV000047151] Chr7:117531101 [GRCh38]
Chr7:117171155 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003466916]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031523]|CFTR-related disorder [RCV001831792]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV000496886]|Cystic fibrosis [RCV001852983]|not provided [RCV001811331] Chr7:117531101 [GRCh38]
Chr7:117171155 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000492.3(CFTR):c.480T>A (p.Ile160=) single nucleotide variant Cystic fibrosis [RCV000047153] Chr7:117531105 [GRCh38]
Chr7:117171159 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.481T>A (p.Tyr161Asn) single nucleotide variant Cystic fibrosis [RCV000577230] Chr7:117531106 [GRCh38]
Chr7:117171160 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.481T>G (p.Tyr161Asp) single nucleotide variant Cystic fibrosis [RCV000577278] Chr7:117531106 [GRCh38]
Chr7:117171160 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.482A>C (p.Tyr161Ser) single nucleotide variant Cystic fibrosis [RCV000047156] Chr7:117531107 [GRCh38]
Chr7:117171161 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.482A>G (p.Tyr161Cys) single nucleotide variant Cystic fibrosis [RCV000577416]|not specified [RCV003323376] Chr7:117531107 [GRCh38]
Chr7:117171161 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005042148]|Cystic fibrosis [RCV000757854]|not provided [RCV001532116] Chr7:117531109 [GRCh38]
Chr7:117171163 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.489+2T>C single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474604]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031524]|Cystic fibrosis [RCV000577437] Chr7:117531116 [GRCh38]
Chr7:117171170 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.489+2T>G single nucleotide variant Cystic fibrosis [RCV000577754] Chr7:117531116 [GRCh38]
Chr7:117171170 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.489+3A>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474605]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031525]|CFTR-related disorder [RCV001009491]|Cystic fibrosis [RCV000047162]|Hereditary pancreatitis [RCV002255273]|not provided [RCV000507054]|not specified [RCV001001769] Chr7:117531117 [GRCh38]
Chr7:117171171 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.489G>A (p.Lys163=) single nucleotide variant Cystic fibrosis [RCV000577430]|not specified [RCV003398631] Chr7:117531114 [GRCh38]
Chr7:117171168 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.3(CFTR):c.490-116A>G single nucleotide variant Cystic fibrosis [RCV000047164] Chr7:117534160 [GRCh38]
Chr7:117174214 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.490-1G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566885]|CFTR-related disorder [RCV001831793]|Cystic fibrosis [RCV000672764]|Cystic fibrosis [RCV001004433] Chr7:117534275 [GRCh38]
Chr7:117174329 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.490-2A>G single nucleotide variant CFTR-related disorder [RCV001826689]|Cystic fibrosis [RCV000577657] Chr7:117534274 [GRCh38]
Chr7:117174328 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.494T>C (p.Leu165Ser) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005042149]|CFTR-related disorder [RCV001826690]|Cystic fibrosis [RCV000576939] Chr7:117534280 [GRCh38]
Chr7:117174334 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.494del (p.Thr164_Leu165insTer) deletion Cystic fibrosis [RCV000577076] Chr7:117534278 [GRCh38]
Chr7:117174332 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.496A>G (p.Lys166Glu) single nucleotide variant Cystic fibrosis [RCV000577392] Chr7:117534282 [GRCh38]
Chr7:117174336 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.49_50dup (p.Trp19fs) duplication Cystic fibrosis [RCV000047170]|not provided [RCV000733082] Chr7:117480137..117480138 [GRCh38]
Chr7:117120191..117120192 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.4C>T (p.Gln2Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474606]|Cystic fibrosis [RCV000576848] Chr7:117480098 [GRCh38]
Chr7:117120152 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.4_53+69del119ins299 indel Cystic fibrosis [RCV000577753] Chr7:117480098..117480216 [GRCh38]
Chr7:117120152..117120270 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.500T>G (p.Leu167Arg) single nucleotide variant Cystic fibrosis [RCV000576970] Chr7:117534286 [GRCh38]
Chr7:117174340 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.509G>A (p.Arg170His) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003322594]|CFTR-related disorder [RCV001009504]|Chronic pancreatitis [RCV003993779]|Cystic fibrosis [RCV000047174]|Hereditary pancreatitis [RCV001802207]|not provided [RCV000724146]|not specified [RCV000178781] Chr7:117534295 [GRCh38]
Chr7:117174349 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.50del (p.Phe17fs) deletion CFTR-related disorder [RCV001831794]|Cystic fibrosis [RCV000047175]|not provided [RCV001093483] Chr7:117480138 [GRCh38]
Chr7:117120192 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.522_526del (p.Ile175fs) deletion Cystic fibrosis [RCV000577145] Chr7:117534304..117534308 [GRCh38]
Chr7:117174358..117174362 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.523A>G (p.Ile175Val) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474607]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031526]|Cystic fibrosis [RCV000577574] Chr7:117534309 [GRCh38]
Chr7:117174363 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.3(CFTR):c.526delA (p.Ser176Valfs) deletion Cystic fibrosis [RCV000047178] Chr7:117534312 [GRCh38]
Chr7:117174366 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.53+1G>T single nucleotide variant CFTR-related disorder [RCV001826691]|Cystic fibrosis [RCV000047179] Chr7:117480148 [GRCh38]
Chr7:117120202 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.53+4A>T single nucleotide variant Cystic fibrosis [RCV000669026] Chr7:117480151 [GRCh38]
Chr7:117120205 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.530T>C (p.Ile177Thr) single nucleotide variant Cystic fibrosis [RCV000673352]|not specified [RCV003235021] Chr7:117534316 [GRCh38]
Chr7:117174370 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.533G>A (p.Gly178Glu) single nucleotide variant Cystic fibrosis [RCV000668392] Chr7:117534319 [GRCh38]
Chr7:117174373 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002490615]|CFTR-related disorder [RCV001826693]|Cystic fibrosis [RCV000577726]|not provided [RCV000590474]|not specified [RCV001731342] Chr7:117534321 [GRCh38]
Chr7:117174375 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.54-1161_164+1603del deletion Cystic fibrosis [RCV000577240] Chr7:117503087..117505961 [GRCh38]
Chr7:117143141..117146015 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.54-13C>G single nucleotide variant Cystic fibrosis [RCV000577284] Chr7:117504240 [GRCh38]
Chr7:117144294 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.543_546del (p.Leu183fs) deletion CFTR-related disorder [RCV001826694]|Cystic fibrosis [RCV000047188] Chr7:117534327..117534330 [GRCh38]
Chr7:117174381..117174384 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.547C>A (p.Leu183Ile) single nucleotide variant CFTR-related disorder [RCV004724787]|Cystic fibrosis [RCV000577598]|not provided [RCV001795042]|not specified [RCV000781269] Chr7:117534333 [GRCh38]
Chr7:117174387 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NC_000007.14:g.117504253_117504363del deletion Cystic fibrosis [RCV000785759] Chr7:117504251..117504361 [GRCh38]
Chr7:117144307..117144417 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.550del (p.Leu184fs) deletion Cystic fibrosis [RCV000576972] Chr7:117534335 [GRCh38]
Chr7:117174389 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.558C>A (p.Asn186Lys) single nucleotide variant Cystic fibrosis [RCV004818825] Chr7:117534344 [GRCh38]
Chr7:117174398 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.561C>A (p.Asn187Lys) single nucleotide variant Cystic fibrosis [RCV000576994]|not specified [RCV003478989] Chr7:117534347 [GRCh38]
Chr7:117174401 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.567C>A (p.Asn189Lys) single nucleotide variant Cystic fibrosis [RCV000577311]|not specified [RCV004700333] Chr7:117534353 [GRCh38]
Chr7:117174407 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.574G>A (p.Asp192Asn) single nucleotide variant Cystic fibrosis [RCV000577146] Chr7:117534360 [GRCh38]
Chr7:117174414 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.574_576delGAT (p.Asp192del) deletion Cystic fibrosis [RCV000047196] Chr7:117534360..117534362 [GRCh38]
Chr7:117174414..117174416 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.575A>G (p.Asp192Gly) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005031527]|Cystic fibrosis [RCV000577568] Chr7:117534361 [GRCh38]
Chr7:117174415 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005031528]|Cystic fibrosis [RCV000577109]|ivacaftor response - Efficacy [RCV000660831] Chr7:117534363 [GRCh38]
Chr7:117174417 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|drug response|not provided
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763154]|CFTR-related disorder [RCV001831795]|Cystic fibrosis [RCV000047199]|not provided [RCV000506873] Chr7:117534363 [GRCh38]
Chr7:117174417 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000492.4(CFTR):c.578_579+5del deletion Cystic fibrosis [RCV001379902] Chr7:117534361..117534367 [GRCh38]
Chr7:117174415..117174421 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.3(CFTR):c.579+3A>C single nucleotide variant Cystic fibrosis [RCV000047202] Chr7:117534368 [GRCh38]
Chr7:117174422 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.579+3A>T single nucleotide variant Cystic fibrosis [RCV000576966] Chr7:117534368 [GRCh38]
Chr7:117174422 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.57G>T (p.Trp19Cys) single nucleotide variant Cystic fibrosis [RCV000577168] Chr7:117504256 [GRCh38]
Chr7:117144310 [GRCh37]
Chr7:7q31.2
likely pathogenic|not provided
NM_000492.4(CFTR):c.580-92T>A single nucleotide variant Cystic fibrosis [RCV001467024]|not provided [RCV004691098] Chr7:117535156 [GRCh38]
Chr7:117175210 [GRCh37]
Chr7:7q31.2
likely benign|not provided
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474611]|CFTR-related disorder [RCV001009497]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV004799766]|Cystic fibrosis [RCV001250516]|not provided [RCV000729929]|not specified [RCV001002323] Chr7:117535249 [GRCh38]
Chr7:117175303 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.592G>C (p.Ala198Pro) single nucleotide variant CFTR-related disorder [RCV001831797]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV004795984]|Cystic fibrosis [RCV001306468]|not provided [RCV000392617]|not specified [RCV003398632] Chr7:117535260 [GRCh38]
Chr7:117175314 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.596A>G (p.His199Arg) single nucleotide variant CFTR-related disorder [RCV001831799]|Cystic fibrosis [RCV000577325] Chr7:117535264 [GRCh38]
Chr7:117175318 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.597T>G (p.His199Gln) single nucleotide variant Cystic fibrosis [RCV000577485] Chr7:117535265 [GRCh38]
Chr7:117175319 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.598T>A (p.Phe200Ile) single nucleotide variant CFTR-related disorder [RCV001009495]|Cystic fibrosis [RCV001705707]|not specified [RCV000507508] Chr7:117535266 [GRCh38]
Chr7:117175320 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.601G>A (p.Val201Met) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005042150]|CFTR-related disorder [RCV001027904]|Cystic fibrosis [RCV000666392]|not provided [RCV000725285]|not specified [RCV000381189] Chr7:117535269 [GRCh38]
Chr7:117175323 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.601del (p.Val201fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV004566886]|CFTR-related disorder [RCV001831800]|Cystic fibrosis [RCV001009409] Chr7:117535269 [GRCh38]
Chr7:117175323 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.606G>A (p.Trp202Ter) single nucleotide variant Cystic fibrosis [RCV000577170] Chr7:117535274 [GRCh38]
Chr7:117175328 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.609C>G (p.Ile203Met) single nucleotide variant Cystic fibrosis [RCV000577483] Chr7:117535277 [GRCh38]
Chr7:117175331 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.614C>G (p.Pro205Arg) single nucleotide variant Cystic fibrosis [RCV002004711] Chr7:117535282 [GRCh38]
Chr7:117175336 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.618G>T (p.Leu206Phe) single nucleotide variant Cystic fibrosis [RCV000576987]|not specified [RCV004586523] Chr7:117535286 [GRCh38]
Chr7:117175340 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.619C>T (p.Gln207Ter) single nucleotide variant Cystic fibrosis [RCV001272230] Chr7:117535287 [GRCh38]
Chr7:117175341 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.625G>T (p.Ala209Ser) single nucleotide variant CFTR-related disorder [RCV001835668]|Cystic fibrosis [RCV000577647]|not specified [RCV001193675] Chr7:117535293 [GRCh38]
Chr7:117175347 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.627A>G (p.Ala209=) single nucleotide variant CFTR-related disorder [RCV001165379]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001588878]|Cystic fibrosis [RCV000577039]|not specified [RCV002247440] Chr7:117535295 [GRCh38]
Chr7:117175349 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.642_643insT (p.Ile215fs) insertion Cystic fibrosis [RCV000577468] Chr7:117535310..117535311 [GRCh38]
Chr7:117175364..117175365 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.647G>A (p.Trp216Ter) single nucleotide variant CFTR-related disorder [RCV001831801]|Cystic fibrosis [RCV000576668]|not specified [RCV000780125] Chr7:117535315 [GRCh38]
Chr7:117175369 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.648G>T (p.Trp216Cys) single nucleotide variant Cystic fibrosis [RCV000665877]|not provided [RCV000733758] Chr7:117535316 [GRCh38]
Chr7:117175370 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.653T>A (p.Leu218Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474613]|CFTR-related disorder [RCV001027905]|Cystic fibrosis [RCV000577306] Chr7:117535321 [GRCh38]
Chr7:117175375 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.659A>G (p.Gln220Arg) single nucleotide variant Cystic fibrosis [RCV000047231] Chr7:117535327 [GRCh38]
Chr7:117175381 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.673T>C (p.Cys225Arg) single nucleotide variant Cystic fibrosis [RCV000577637] Chr7:117535341 [GRCh38]
Chr7:117175395 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.675T>A (p.Cys225Ter) single nucleotide variant Cystic fibrosis [RCV000577626] Chr7:117535343 [GRCh38]
Chr7:117175397 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.680T>G (p.Leu227Arg) single nucleotide variant CFTR-related disorder [RCV001826696]|Cystic fibrosis [RCV000047234] Chr7:117535348 [GRCh38]
Chr7:117175402 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002477162]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003474615]|CFTR-related disorder [RCV002228163]|Cystic fibrosis [RCV000047235]|Cystic fibrosis [RCV001004237]|Cystic fibrosis [RCV001009386]|not provided [RCV000732693]|not specified [RCV000780160] Chr7:117535363 [GRCh38]
Chr7:117175417 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.709C>G (p.Gln237Glu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566887]|Cystic fibrosis [RCV000577019]|Cystic fibrosis [RCV002281557] Chr7:117535377 [GRCh38]
Chr7:117175431 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.711G>C (p.Gln237His) single nucleotide variant Cystic fibrosis [RCV001272231]|not specified [RCV000780162] Chr7:117535379 [GRCh38]
Chr7:117175433 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.713C>T (p.Ala238Val) single nucleotide variant Cystic fibrosis [RCV005100340]|not specified [RCV003490862] Chr7:117535381 [GRCh38]
Chr7:117175435 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.714del (p.Gly239_Leu240insTer) deletion Cystic fibrosis [RCV000577031] Chr7:117535382 [GRCh38]
Chr7:117175436 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.715G>A (p.Gly239Arg) single nucleotide variant CFTR-related disorder [RCV001826697]|Cystic fibrosis [RCV000577623]|not provided [RCV000594254]|not specified [RCV001000072] Chr7:117535383 [GRCh38]
Chr7:117175437 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.721G>A (p.Gly241Arg) single nucleotide variant Cystic fibrosis [RCV000577805]|not specified [RCV003317065] Chr7:117535389 [GRCh38]
Chr7:117175443 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.3(CFTR):c.72G>C (p.Leu24Phe) single nucleotide variant Cystic fibrosis [RCV000047243] Chr7:117504271 [GRCh38]
Chr7:117144325 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.731T>A (p.Met244Lys) single nucleotide variant Cystic fibrosis [RCV000577714] Chr7:117535399 [GRCh38]
Chr7:117175453 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.741C>G (p.Tyr247Ter) single nucleotide variant Cystic fibrosis [RCV000577020] Chr7:117535409 [GRCh38]
Chr7:117175463 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.743+1G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474616]|Cystic fibrosis [RCV000047246]|not provided [RCV000347077] Chr7:117535412 [GRCh38]
Chr7:117175466 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.743+1G>C single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474617]|CFTR-related disorder [RCV001831802]|Cystic fibrosis [RCV000047247]|not provided [RCV001509316] Chr7:117535412 [GRCh38]
Chr7:117175466 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr) single nucleotide variant Cystic fibrosis [RCV000577458]|not specified [RCV002228164] Chr7:117535411 [GRCh38]
Chr7:117175465 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.3(CFTR):c.744-10_744-3del deletion Cystic fibrosis [RCV000047249] Chr7:117536538..117536545 [GRCh38]
Chr7:117176592..117176599 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474618]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031530]|CFTR-related disorder [RCV002281738]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV000588144]|Cystic fibrosis [RCV000047251]|not provided [RCV000723753]|not specified [RCV000349995] Chr7:117536576 [GRCh38]
Chr7:117176630 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.773del (p.Arg258fs) deletion Cystic fibrosis [RCV000577335] Chr7:117536577 [GRCh38]
Chr7:117176631 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.775delCinsTCTTCCTCAGATTCATTGTGATTACCTCA (p.Leu259Serfs) indel Cystic fibrosis [RCV000047253] Chr7:117536579 [GRCh38]
Chr7:117176633 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.794T>G (p.Met265Arg) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474619]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005042151]|CFTR-related disorder [RCV001826698]|Cystic fibrosis [RCV000671208]|Cystic fibrosis [RCV001004238]|not provided [RCV001811332] Chr7:117536598 [GRCh38]
Chr7:117176652 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.79G>A (p.Gly27Arg) single nucleotide variant Cystic fibrosis [RCV000577762] Chr7:117504278 [GRCh38]
Chr7:117144332 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.79G>C (p.Gly27Arg) single nucleotide variant Cystic fibrosis [RCV000047256] Chr7:117504278 [GRCh38]
Chr7:117144332 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.79G>T (p.Gly27Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474620]|CFTR-related disorder [RCV001831803]|Cystic fibrosis [RCV000047257] Chr7:117504278 [GRCh38]
Chr7:117144332 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.803del (p.Asn268fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003473297]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031483]|CFTR-related disorder [RCV001831714]|Cystic fibrosis [RCV000047258]|not provided [RCV000790728] Chr7:117536604 [GRCh38]
Chr7:117176658 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.80G>A (p.Gly27Glu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566888]|Cystic fibrosis [RCV000577538] Chr7:117504279 [GRCh38]
Chr7:117144333 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.80del (p.Gly27fs) deletion Cystic fibrosis [RCV000577249] Chr7:117504278 [GRCh38]
Chr7:117144332 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.828C>A (p.Cys276Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566889]|CFTR-related disorder [RCV001826699]|Cystic fibrosis [RCV000047263] Chr7:117536632 [GRCh38]
Chr7:117176686 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.829T>A (p.Trp277Arg) single nucleotide variant Cystic fibrosis [RCV000577038] Chr7:117536633 [GRCh38]
Chr7:117176687 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.833AAG[1] (p.Glu279del) microsatellite Cystic fibrosis [RCV000577328] Chr7:117536636..117536638 [GRCh38]
Chr7:117176690..117176692 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.842T>C (p.Met281Thr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002483058]|CFTR-related disorder [RCV001831804]|Cystic fibrosis [RCV000577667]|not specified [RCV002281739] Chr7:117536646 [GRCh38]
Chr7:117176700 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474621]|Cystic fibrosis [RCV000577376]|Cystic fibrosis [RCV001004240]|not provided [RCV004589537]|not specified [RCV003478990] Chr7:117536663 [GRCh38]
Chr7:117176717 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.3(CFTR):c.859_863delAACTT (p.Asn287Lysfs) deletion Cystic fibrosis [RCV000047270] Chr7:117536663..117536667 [GRCh38]
Chr7:117176717..117176721 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.861C>G (p.Asn287Lys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002483059]|CFTR-related disorder [RCV001831805]|Cystic fibrosis [RCV000577467]|not provided [RCV000594718]|not specified [RCV002469001] Chr7:117536665 [GRCh38]
Chr7:117176719 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.861_865del (p.Asn287fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003474622]|CFTR-related disorder [RCV001826700]|Cystic fibrosis [RCV000047272]|not specified [RCV000780132] Chr7:117536663..117536667 [GRCh38]
Chr7:117176717..117176721 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.862_869+1delTTAAGACAG deletion Cystic fibrosis [RCV000047273] Chr7:117536666..117536674 [GRCh38]
Chr7:117176720..117176728 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.868C>T (p.Gln290Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474623]|CFTR-related disorder [RCV001831806]|Cystic fibrosis [RCV001009416] Chr7:117536672 [GRCh38]
Chr7:117176726 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.870-1113_870-1110del deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003474624]|Cystic fibrosis [RCV000577560]|Cystic fibrosis [RCV001009369] Chr7:117538987..117538990 [GRCh38]
Chr7:117179041..117179044 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.870-3T>G single nucleotide variant Cystic fibrosis [RCV000576957]|not specified [RCV003398633] Chr7:117540097 [GRCh38]
Chr7:117180151 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.874G>A (p.Glu292Lys) single nucleotide variant Cystic fibrosis [RCV000577272] Chr7:117540104 [GRCh38]
Chr7:117180158 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.877C>A (p.Leu293Met) single nucleotide variant Cystic fibrosis [RCV000577583] Chr7:117540107 [GRCh38]
Chr7:117180161 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.881_882del (p.Lys294fs) deletion Cystic fibrosis [RCV000577644] Chr7:117540110..117540111 [GRCh38]
Chr7:117180164..117180165 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.889C>T (p.Arg297Trp) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002483060]|CFTR-related disorder [RCV001835669]|Cystic fibrosis [RCV000577784]|not provided [RCV003488367]|not specified [RCV000781243] Chr7:117540119 [GRCh38]
Chr7:117180173 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.88C>T (p.Gln30Ter) single nucleotide variant CFTR-related disorder [RCV001826701]|Cystic fibrosis [RCV000577040] Chr7:117504287 [GRCh38]
Chr7:117144341 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) single nucleotide variant CFTR-related disorder [RCV001165380]|Cystic fibrosis [RCV000987959]|not provided [RCV001311300]|not specified [RCV000180169] Chr7:117540120 [GRCh38]
Chr7:117180174 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.912C>G (p.Tyr304Ter) single nucleotide variant Cystic fibrosis [RCV001009412] Chr7:117540142 [GRCh38]
Chr7:117180196 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.913T>G (p.Phe305Val) single nucleotide variant Cystic fibrosis [RCV000577202] Chr7:117540143 [GRCh38]
Chr7:117180197 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.920G>A (p.Ser307Asn) single nucleotide variant Cystic fibrosis [RCV000577403] Chr7:117540150 [GRCh38]
Chr7:117180204 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly) single nucleotide variant CFTR-related disorder [RCV001826702]|Cystic fibrosis [RCV000577190]|not provided [RCV000589328]|not specified [RCV003230383] Chr7:117540156 [GRCh38]
Chr7:117180210 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002490617]|Cystic fibrosis [RCV000577473]|Hereditary pancreatitis [RCV002257391]|Lung disease, non-specific [RCV000581319]|not provided [RCV000733631]|not specified [RCV002281740] Chr7:117504291 [GRCh38]
Chr7:117144345 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.940G>C (p.Gly314Arg) single nucleotide variant Cystic fibrosis [RCV000576978] Chr7:117540170 [GRCh38]
Chr7:117180224 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005031531]|CFTR-related disorder [RCV001826703]|Cystic fibrosis [RCV000577297]|Cystic fibrosis [RCV001004243]|not provided [RCV001093485] Chr7:117540171 [GRCh38]
Chr7:117180225 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.941G>T (p.Gly314Val) single nucleotide variant Cystic fibrosis [RCV003486510] Chr7:117540171 [GRCh38]
Chr7:117180225 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000492.3:c.948 variation Cystic fibrosis [RCV000047294] Chr7:7q31.2 not provided
NM_000492.4(CFTR):c.959T>A (p.Leu320Ter) single nucleotide variant Cystic fibrosis [RCV001009414] Chr7:117540189 [GRCh38]
Chr7:117180243 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.95T>C (p.Leu32Pro) single nucleotide variant Cystic fibrosis [RCV000047298] Chr7:117504294 [GRCh38]
Chr7:117144348 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.960A>T (p.Leu320Phe) single nucleotide variant CFTR-related disorder [RCV001165383]|Cystic fibrosis [RCV000757879]|not specified [RCV003323377] Chr7:117540190 [GRCh38]
Chr7:117180244 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.971C>T (p.Pro324Leu) single nucleotide variant CFTR-related disorder [RCV001826704]|Cystic fibrosis [RCV000667037]|not provided [RCV001811333] Chr7:117540201 [GRCh38]
Chr7:117180255 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.980del (p.Leu327fs) deletion Cystic fibrosis [RCV000577224] Chr7:117540210 [GRCh38]
Chr7:117180264 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.987del (p.Gly330fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003474625]|CFTR-related disorder [RCV001831807]|Cystic fibrosis [RCV000047303]|Cystic fibrosis [RCV001004244] Chr7:117540215 [GRCh38]
Chr7:117180269 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.992T>A (p.Ile331Asn) single nucleotide variant CFTR-related disorder [RCV001835670]|Cystic fibrosis [RCV000757880]|not specified [RCV000780119] Chr7:117540222 [GRCh38]
Chr7:117180276 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.2052del (p.Lys684fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV002490440]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473239]|CFTR-related disorder [RCV001826529]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV002288526]|Cystic fibrosis [RCV000043563]|Cystic fibrosis [RCV001004282]|not provided [RCV000598782]|not specified [RCV001000726] Chr7:117592213 [GRCh38]
Chr7:117232267 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2657+5G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763579]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473241]|CFTR-related disorder [RCV001835639]|Cystic fibrosis [RCV000043564]|Cystic fibrosis [RCV001004484]|Cystic fibrosis [RCV001009372]|Hereditary pancreatitis [RCV002257369]|not provided [RCV000487256]|not specified [RCV000507493] Chr7:117602868 [GRCh38]
Chr7:117242922 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.489+1G>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763152]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473246]|CFTR-related disorder [RCV001027898]|Cystic fibrosis [RCV000043565]|Cystic fibrosis [RCV001004431]|Hereditary pancreatitis [RCV002288527]|not provided [RCV000657900] Chr7:117531115 [GRCh38]
Chr7:117171169 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.579+1G>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473240]|CFTR-related disorder [RCV001826530]|Cystic fibrosis [RCV000043566]|Cystic fibrosis [RCV001004437]|not provided [RCV000723838]|not specified [RCV000780140] Chr7:117534366 [GRCh38]
Chr7:117174420 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003466883]|CFTR-related disorder [RCV001826533]|Cystic fibrosis [RCV000043664]|Cystic fibrosis [RCV001004464]|Hereditary pancreatitis [RCV002247407]|ivacaftor response - Efficacy [RCV000211346]|not provided [RCV003476914]|not specified [RCV000781222] Chr7:117587799 [GRCh38]
Chr7:117227853 [GRCh37]
Chr7:7q31.2
pathogenic|drug response
NM_000492.4(CFTR):c.-887C>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002490598]|CFTR-related disorder [RCV001826605]|Cystic fibrosis [RCV001512455] Chr7:117479208 [GRCh38]
Chr7:117119262 [GRCh37]
Chr7:7q31.2
benign|likely benign|not provided
NC_000007.14:g.117479205CTC[1] microsatellite Cystic fibrosis [RCV002090157] Chr7:117479205..117479207 [GRCh38]
Chr7:117119259..117119261 [GRCh37]
Chr7:7q31.2
likely benign|not provided
NM_000492.4(CFTR):c.-812T>G single nucleotide variant Cystic fibrosis [RCV000043698]|not provided [RCV001281708]|not specified [RCV000507401] Chr7:117479283 [GRCh38]
Chr7:117119337 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NC_000007.14:g.117479600C>T single nucleotide variant Cystic fibrosis [RCV000669723] Chr7:117479600 [GRCh38]
Chr7:117119654 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.-226G>T single nucleotide variant Cystic fibrosis [RCV000043700]|not provided [RCV000727142] Chr7:117479869 [GRCh38]
Chr7:117119923 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NG_016465.4:g.141369_151223del9855 deletion Cystic fibrosis [RCV000043701] Chr7:117602152..117612006 [GRCh38]
Chr7:117242206..117252060 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2989-977_3367+248del deletion Cystic fibrosis [RCV000043702] Chr7:117609540..117612054 [GRCh38]
Chr7:117249596..117252110 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.*2G>A single nucleotide variant CFTR-related disorder [RCV004734602]|Cystic fibrosis [RCV001409872]|not provided [RCV000176720]|not specified [RCV001002168] Chr7:117667110 [GRCh38]
Chr7:117307164 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.*80T>G single nucleotide variant Cystic fibrosis [RCV000577340] Chr7:117667188 [GRCh38]
Chr7:117307242 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.-4G>C single nucleotide variant CFTR-related disorder [RCV004542714]|Cystic fibrosis [RCV001089310]|not provided [RCV001811316]|not specified [RCV000173140] Chr7:117480091 [GRCh38]
Chr7:117120145 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.-9_14del (p.Met1fs) deletion CFTR-related disorder [RCV004724786]|Cystic fibrosis [RCV000046190] Chr7:117480082..117480104 [GRCh38]
Chr7:117120136..117120158 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473439]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031485]|CFTR-related disorder [RCV001165384]|Cystic fibrosis [RCV000046192]|Cystic fibrosis [RCV002281546]|not provided [RCV000587058] Chr7:117540231 [GRCh38]
Chr7:117180285 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566862]|CFTR-related disorder [RCV004537221]|Cystic fibrosis [RCV000577441]|Cystic fibrosis [RCV002281547]|not provided [RCV001811317] Chr7:117540231 [GRCh38]
Chr7:117180285 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.1006_1007insG (p.Ile336fs) insertion CFTR-related disorder [RCV001826606]|Cystic fibrosis [RCV000046194] Chr7:117540236..117540237 [GRCh38]
Chr7:117180290..117180291 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1008_1019dup (p.Phe337_Ile340dup) duplication Cystic fibrosis [RCV001009438] Chr7:117540235..117540236 [GRCh38]
Chr7:117180289..117180290 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.100_117del (p.Leu34_Gln39del) deletion Cystic fibrosis [RCV000577512] Chr7:117504297..117504314 [GRCh38]
Chr7:117144351..117144368 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.1012A>G (p.Thr338Ala) single nucleotide variant Cystic fibrosis [RCV000576968] Chr7:117540242 [GRCh38]
Chr7:117180296 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.1018delA (p.Ile340Serfs) deletion Cystic fibrosis [RCV000046200] Chr7:117540248 [GRCh38]
Chr7:117180302 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.1029_1030insG (p.Ile344Aspfs) insertion Cystic fibrosis [RCV000046203] Chr7:117540259..117540260 [GRCh38]
Chr7:117180313..117180314 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1029del (p.Phe342_Cys343insTer) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003473442]|CFTR-related disorder [RCV001027900]|Cystic fibrosis [RCV000046204]|Hereditary pancreatitis [RCV003221797]|not provided [RCV001508220] Chr7:117540259 [GRCh38]
Chr7:117180313 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1037T>C (p.Leu346Pro) single nucleotide variant Cystic fibrosis [RCV000576945] Chr7:117540267 [GRCh38]
Chr7:117180321 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1039C>T (p.Arg347Cys) single nucleotide variant Cystic fibrosis [RCV000577686]|Hereditary pancreatitis [RCV002247432]|not provided [RCV000729383]|not specified [RCV000780155] Chr7:117540269 [GRCh38]
Chr7:117180323 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) single nucleotide variant CFTR-related disorder [RCV004537222]|Cystic fibrosis [RCV000046210]|not provided [RCV000339107]|not specified [RCV000781246] Chr7:117540273 [GRCh38]
Chr7:117180327 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) single nucleotide variant CFTR-related disorder [RCV001158654]|Cystic fibrosis [RCV000046212]|Hereditary pancreatitis [RCV001000006]|not provided [RCV000588868]|not specified [RCV002265581] Chr7:117540282 [GRCh38]
Chr7:117180336 [GRCh37]
Chr7:7q31.2
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.1057C>T (p.Gln353Ter) single nucleotide variant Cystic fibrosis [RCV001009439] Chr7:117540287 [GRCh38]
Chr7:117180341 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1059A>C (p.Gln353His) single nucleotide variant Cystic fibrosis [RCV000577480]|not specified [RCV001731337] Chr7:117540289 [GRCh38]
Chr7:117180343 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.1068G>A (p.Trp356Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003475329]|Cystic fibrosis [RCV002284592] Chr7:117540298 [GRCh38]
Chr7:117180352 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1069del (p.Ala357fs) deletion Cystic fibrosis [RCV000577352] Chr7:117540297 [GRCh38]
Chr7:117180351 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1075_1079delinsAAAAA (p.Gln359_Thr360delinsLysLys) indel Bronchiectasis with or without elevated sweat chloride 1 [RCV003473443]|Cystic fibrosis [RCV000577797] Chr7:117540305..117540309 [GRCh38]
Chr7:117180359..117180363 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1076A>G (p.Gln359Arg) single nucleotide variant CFTR-related disorder [RCV001831716]|not specified [RCV001194313] Chr7:117540306 [GRCh38]
Chr7:117180360 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.3(CFTR):c.1079C>G (p.Thr360Arg) single nucleotide variant Cystic fibrosis [RCV000046222] Chr7:117540309 [GRCh38]
Chr7:117180363 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1081T>A (p.Trp361Arg) single nucleotide variant Cystic fibrosis [RCV000577300] Chr7:117540311 [GRCh38]
Chr7:117180365 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg) single nucleotide variant CFTR-related disorder [RCV001831717]|Cystic fibrosis [RCV001009436] Chr7:117540311 [GRCh38]
Chr7:117180365 [GRCh37]
Chr7:7q31.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.1086T>A (p.Tyr362Ter) single nucleotide variant Cystic fibrosis [RCV000577402] Chr7:117540316 [GRCh38]
Chr7:117180370 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1086T>G (p.Tyr362Ter) single nucleotide variant Cystic fibrosis [RCV000577612] Chr7:117540316 [GRCh38]
Chr7:117180370 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1090T>C (p.Ser364Pro) single nucleotide variant Cystic fibrosis [RCV004767035] Chr7:117540320 [GRCh38]
Chr7:117180374 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.1094T>C (p.Leu365Pro) single nucleotide variant Cystic fibrosis [RCV000577324] Chr7:117540324 [GRCh38]
Chr7:117180378 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.1106_1111dup (p.Asn369_Lys370dup) duplication Cystic fibrosis [RCV000577030] Chr7:117540333..117540334 [GRCh38]
Chr7:117180387..117180388 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.1116+17C>T single nucleotide variant Cystic fibrosis [RCV000046233] Chr7:117540363 [GRCh38]
Chr7:117180417 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1116+1G>C single nucleotide variant Cystic fibrosis [RCV000577091] Chr7:117540347 [GRCh38]
Chr7:117180401 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1117-26_1117-25del microsatellite Cystic fibrosis [RCV000577778]|not provided [RCV001811318] Chr7:117541988..117541989 [GRCh38]
Chr7:117182042..117182043 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000492.3(CFTR):c.1117-30_1117-29delTA deletion Cystic fibrosis [RCV000046237] Chr7:117541986..117541987 [GRCh38]
Chr7:117182040..117182041 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1117-5A>G single nucleotide variant Cystic fibrosis [RCV001009374]|Cystic fibrosis [RCV002284358] Chr7:117542011 [GRCh38]
Chr7:117182065 [GRCh37]
Chr7:7q31.2
pathogenic|uncertain significance|not provided
NM_000492.3(CFTR):c.111_112delAT (p.Tyr38Profs) deletion Cystic fibrosis [RCV000046239] Chr7:117504310..117504311 [GRCh38]
Chr7:117144364..117144365 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473445]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001192399]|Cystic fibrosis [RCV000577124]|not specified [RCV001000769] Chr7:117542024 [GRCh38]
Chr7:117182078 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.112_113del (p.Tyr38fs) microsatellite Cystic fibrosis [RCV000577293] Chr7:117504308..117504309 [GRCh38]
Chr7:117144362..117144363 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1135G>A (p.Glu379Lys) single nucleotide variant Cystic fibrosis [RCV000757857] Chr7:117542034 [GRCh38]
Chr7:117182088 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003466898]|Cystic fibrosis [RCV000665109]|not provided [RCV001283961] Chr7:117542034 [GRCh38]
Chr7:117182088 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.1148T>C (p.Leu383Ser) single nucleotide variant Cystic fibrosis [RCV000577457]|not specified [RCV004767040] Chr7:117542047 [GRCh38]
Chr7:117182101 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.1152del (p.Glu384fs) deletion Cystic fibrosis [RCV000577608] Chr7:117542050 [GRCh38]
Chr7:117182104 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.1153_1154insAT (p.Asn386Ilefs) insertion Cystic fibrosis [RCV000046247] Chr7:117542051..117542052 [GRCh38]
Chr7:117182105..117182106 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1162_1168del (p.Thr388fs) deletion Cystic fibrosis [RCV001009434] Chr7:117542059..117542065 [GRCh38]
Chr7:117182113..117182119 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1175T>C (p.Val392Ala) single nucleotide variant CFTR-related disorder [RCV001249737]|Cystic fibrosis [RCV000577671]|not specified [RCV003235010] Chr7:117542074 [GRCh38]
Chr7:117182128 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly) single nucleotide variant Cystic fibrosis [RCV000577118] Chr7:117542074 [GRCh38]
Chr7:117182128 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.1177del (p.Val392_Val393insTer) deletion CFTR-related disorder [RCV001831719]|Cystic fibrosis [RCV000577174] Chr7:117542076 [GRCh38]
Chr7:117182130 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.1181T>G (p.Met394Arg) single nucleotide variant Cystic fibrosis [RCV000046253] Chr7:117542080 [GRCh38]
Chr7:117182134 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1196C>A (p.Ala399Asp) single nucleotide variant Cystic fibrosis [RCV000577434] Chr7:117542095 [GRCh38]
Chr7:117182149 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473447]|CFTR-related disorder [RCV001027911]|Cystic fibrosis [RCV000046255]|not specified [RCV000780154] Chr7:117480105 [GRCh38]
Chr7:117120159 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1209G>A (p.Glu403=) single nucleotide variant Cystic fibrosis [RCV000577812] Chr7:117542108 [GRCh38]
Chr7:117182162 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.1209G>C (p.Glu403Asp) single nucleotide variant Cystic fibrosis [RCV000577449] Chr7:117542108 [GRCh38]
Chr7:117182162 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1210-1G>C single nucleotide variant Cystic fibrosis [RCV000576959] Chr7:117548640 [GRCh38]
Chr7:117188694 [GRCh37]
Chr7:7q31.2
likely pathogenic|not provided
NM_000492.4(CFTR):c.1210-2A>C single nucleotide variant CFTR-related disorder [RCV001826608]|Cystic fibrosis [RCV001004258]|Cystic fibrosis [RCV001193108]|not provided [RCV002277135]|not specified [RCV001001372] Chr7:117548639 [GRCh38]
Chr7:117188693 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.1220A>T (p.Glu407Val) single nucleotide variant CFTR-related disorder [RCV001831723]|Cystic fibrosis [RCV000669652]|not provided [RCV001811319]|not specified [RCV003478985] Chr7:117548651 [GRCh38]
Chr7:117188705 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.1234del (p.Ala412fs) deletion Cystic fibrosis [RCV000577391] Chr7:117548665 [GRCh38]
Chr7:117188719 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1235del (p.Ala412fs) deletion Cystic fibrosis [RCV000577770] Chr7:117548666 [GRCh38]
Chr7:117188720 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1240C>T (p.Gln414Ter) single nucleotide variant CFTR-related disorder [RCV001831724]|Cystic fibrosis [RCV000046266]|not provided [RCV001093486] Chr7:117548671 [GRCh38]
Chr7:117188725 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1243_1247del (p.Gln414_Asn415insTer) microsatellite Cystic fibrosis [RCV001953573] Chr7:117548666..117548670 [GRCh38]
Chr7:117188720..117188724 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1253A>G (p.Asn418Ser) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002490609]|CFTR-related disorder [RCV001831725]|Cystic fibrosis [RCV001785467]|not provided [RCV001811320]|not specified [RCV003235011] Chr7:117548684 [GRCh38]
Chr7:117188738 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.1301_1307del (p.Ser434fs) deletion Cystic fibrosis [RCV000785637]|not provided [RCV000759749] Chr7:117548728..117548734 [GRCh38]
Chr7:117188782..117188788 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473448]|Cystic fibrosis [RCV000046271]|not provided [RCV003476940] Chr7:117548746 [GRCh38]
Chr7:117188800 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.131A>G (p.Asp44Gly) single nucleotide variant Cystic fibrosis [RCV000577104] Chr7:117504330 [GRCh38]
Chr7:117144384 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1322T>C (p.Leu441Pro) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005042127]|Cystic fibrosis [RCV000577476] Chr7:117548753 [GRCh38]
Chr7:117188807 [GRCh37]
Chr7:7q31.2
pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473449]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031486]|CFTR-related disorder [RCV001009469]|Cystic fibrosis [RCV000046274]|Cystic fibrosis [RCV001004444]|Hereditary pancreatitis [RCV002256030]|not provided [RCV000078976]|not specified [RCV000150335] Chr7:117548758 [GRCh38]
Chr7:117188812 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.1330_1331del (p.Asp443_Ile444insTer) microsatellite Cystic fibrosis [RCV000577769]|Cystic fibrosis [RCV001009516]|not specified [RCV000780144] Chr7:117548759..117548760 [GRCh38]
Chr7:117188813..117188814 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.1331T>G (p.Ile444Ser) single nucleotide variant Cystic fibrosis [RCV000577338] Chr7:117548762 [GRCh38]
Chr7:117188816 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1340del (p.Lys447fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003473450]|CFTR-related disorder [RCV001835653]|Cystic fibrosis [RCV000046278]|Cystic fibrosis [RCV001004445]|not specified [RCV001001369] Chr7:117548770 [GRCh38]
Chr7:117188824 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1355A>C (p.Gln452Pro) single nucleotide variant Cystic fibrosis [RCV002383334] Chr7:117548786 [GRCh38]
Chr7:117188840 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.3(CFTR):c.1359_1361delGTT (p.Leu454del) deletion Cystic fibrosis [RCV000046280] Chr7:117548790..117548792 [GRCh38]
Chr7:117188844..117188846 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1366G>T (p.Val456Phe) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005031487]|Cystic fibrosis [RCV000577746] Chr7:117548797 [GRCh38]
Chr7:117188851 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.1373del (p.Gly458fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003473451]|Cystic fibrosis [RCV000046285]|Cystic fibrosis [RCV001004448] Chr7:117548803 [GRCh38]
Chr7:117188857 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000492.4(CFTR):c.137C>A (p.Ala46Asp) single nucleotide variant Cystic fibrosis [RCV000046286] Chr7:117504336 [GRCh38]
Chr7:117144390 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1392+1G>A single nucleotide variant Cystic fibrosis [RCV001007592] Chr7:117548824 [GRCh38]
Chr7:117188878 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.1392G>T (p.Lys464Asn) single nucleotide variant Cystic fibrosis [RCV001009443]|Hereditary pancreatitis [RCV001197496]|not provided [RCV001357911] Chr7:117548823 [GRCh38]
Chr7:117188877 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.1393-18G>A single nucleotide variant Cystic fibrosis [RCV000577198] Chr7:117559446 [GRCh38]
Chr7:117199500 [GRCh37]
Chr7:7q31.2
likely benign|not provided
NM_000492.4(CFTR):c.1393-2A>G single nucleotide variant CFTR-related disorder [RCV001826609]|Cystic fibrosis [RCV000046291] Chr7:117559462 [GRCh38]
Chr7:117199516 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002496708]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473453]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001192400]|Cystic fibrosis [RCV002390195] Chr7:117559468 [GRCh38]
Chr7:117199522 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003884342]|CFTR-related disorder [RCV004734603]|Cystic fibrosis [RCV000577709]|not provided [RCV000588804]|not specified [RCV001824591] Chr7:117559470 [GRCh38]
Chr7:117199524 [GRCh37]
Chr7:7q31.2
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.1403T>C (p.Leu468Pro) single nucleotide variant Cystic fibrosis [RCV000577792] Chr7:117559474 [GRCh38]
Chr7:117199528 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1405A>G (p.Met469Val) single nucleotide variant Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV002288549]|Cystic fibrosis [RCV000577569]|Cystic fibrosis [RCV001009537] Chr7:117559476 [GRCh38]
Chr7:117199530 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.1407G>T (p.Met469Ile) single nucleotide variant Cystic fibrosis [RCV000577713]|not specified [RCV003398624] Chr7:117559478 [GRCh38]
Chr7:117199532 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.1409_1418del (p.Val470fs) deletion Cystic fibrosis [RCV000577177] Chr7:117559478..117559487 [GRCh38]
Chr7:117199532..117199541 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.1418del (p.Gly473fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003473454]|CFTR-related disorder [RCV001831727]|Cystic fibrosis [RCV000046300]|not provided [RCV000507504] Chr7:117559487 [GRCh38]
Chr7:117199541 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.1433_1434delCA (p.Ser478Terfs) deletion Cystic fibrosis [RCV000046301] Chr7:117559504..117559505 [GRCh38]
Chr7:117199558..117199559 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1435G>T (p.Glu479Ter) single nucleotide variant Cystic fibrosis [RCV002394265] Chr7:117559506 [GRCh38]
Chr7:117199560 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser) single nucleotide variant CFTR-related disorder [RCV001826611]|Cystic fibrosis [RCV000577421]|not provided [RCV001753465] Chr7:117559509 [GRCh38]
Chr7:117199563 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.1439G>A (p.Gly480Asp) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473455]|Cystic fibrosis [RCV004767041]|not provided [RCV001507709] Chr7:117559510 [GRCh38]
Chr7:117199564 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.1450C>T (p.His484Tyr) single nucleotide variant Cystic fibrosis [RCV000046307]|Hereditary pancreatitis [RCV000770984]|not provided [RCV000595581]|not specified [RCV001193105] Chr7:117559521 [GRCh38]
Chr7:117199575 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.1453A>T (p.Ser485Cys) single nucleotide variant Cystic fibrosis [RCV000666426]|not specified [RCV003317059] Chr7:117559524 [GRCh38]
Chr7:117199578 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.3(CFTR):c.1469_1470delTC (p.Phe490Leufs) deletion Cystic fibrosis [RCV000046310] Chr7:117559540..117559541 [GRCh38]
Chr7:117199594..117199595 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1471T>C (p.Cys491Arg) single nucleotide variant Cystic fibrosis [RCV001009387] Chr7:117559542 [GRCh38]
Chr7:117199596 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1478A>C (p.Gln493Pro) single nucleotide variant Cystic fibrosis [RCV000577002]|not specified [RCV003488365] Chr7:117559549 [GRCh38]
Chr7:117199603 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.1478A>G (p.Gln493Arg) single nucleotide variant Cystic fibrosis [RCV000577263] Chr7:117559549 [GRCh38]
Chr7:117199603 [GRCh37]
Chr7:7q31.2
likely pathogenic|not provided
NM_000492.3(CFTR):c.1482_1483delTT (p.Ser495Leufs) deletion Cystic fibrosis [RCV000046317] Chr7:117559553..117559554 [GRCh38]
Chr7:117199607..117199608 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1487G>A (p.Trp496Ter) single nucleotide variant CFTR-related disorder [RCV001826612]|Cystic fibrosis [RCV000576357] Chr7:117559558 [GRCh38]
Chr7:117199612 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.148T>C (p.Ser50Pro) single nucleotide variant Cystic fibrosis [RCV000046319] Chr7:117504347 [GRCh38]
Chr7:117144401 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.3(CFTR):c.1494G>C (p.Met498Ile) single nucleotide variant Cystic fibrosis [RCV000046320] Chr7:117559565 [GRCh38]
Chr7:117199619 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1495C>G (p.Pro499Ala) single nucleotide variant Cystic fibrosis [RCV000577735]|not specified [RCV001804778] Chr7:117559566 [GRCh38]
Chr7:117199620 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.149C>A (p.Ser50Tyr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002490610]|CFTR-related disorder [RCV001831729]|Cystic fibrosis [RCV000577356]|not specified [RCV001194310] Chr7:117504348 [GRCh38]
Chr7:117144402 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.1501A>G (p.Thr501Ala) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005031488]|Cystic fibrosis [RCV000577075]|Cystic fibrosis [RCV002281548]|not specified [RCV004586519] Chr7:117559572 [GRCh38]
Chr7:117199626 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.1505T>A (p.Ile502Asn) single nucleotide variant Cystic fibrosis [RCV000856672]|not provided [RCV001283967] Chr7:117559576 [GRCh38]
Chr7:117199630 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473457]|Cystic fibrosis [RCV000577239] Chr7:117559576 [GRCh38]
Chr7:117199630 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1510G>C (p.Glu504Gln) single nucleotide variant Cystic fibrosis [RCV000577315] Chr7:117559581 [GRCh38]
Chr7:117199635 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1510G>T (p.Glu504Ter) single nucleotide variant CFTR-related disorder [RCV001826613]|Cystic fibrosis [RCV000757811] Chr7:117559581 [GRCh38]
Chr7:117199635 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473458]|Cystic fibrosis [RCV000577685]|Cystic fibrosis [RCV001004457]|not provided [RCV001269698] Chr7:117559587 [GRCh38]
Chr7:117199641 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005031489]|Cystic fibrosis [RCV000046330]|not provided [RCV000727671] Chr7:117559588 [GRCh38]
Chr7:117199642 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.1517T>G (p.Ile506Ser) single nucleotide variant Cystic fibrosis [RCV000577616]|not specified [RCV003226178] Chr7:117559588 [GRCh38]
Chr7:117199642 [GRCh37]
Chr7:7q31.2
pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met) single nucleotide variant Cystic fibrosis [RCV000046332]|not specified [RCV001844024] Chr7:117559589 [GRCh38]
Chr7:117199643 [GRCh37]
Chr7:7q31.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.3(CFTR):c.1523T>C (p.Phe508Ser) single nucleotide variant Cystic fibrosis [RCV000046335] Chr7:117559594 [GRCh38]
Chr7:117199648 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566863]|Cystic fibrosis [RCV000577027]|Cystic fibrosis [RCV001009541] Chr7:117559609 [GRCh38]
Chr7:117199663 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.1546A>G (p.Arg516Gly) single nucleotide variant Cystic fibrosis [RCV002405289]|not provided [RCV001756583]|not specified [RCV003331194] Chr7:117559617 [GRCh38]
Chr7:117199671 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.1573C>T (p.Gln525Ter) single nucleotide variant CFTR-related disorder [RCV001826614]|Cystic fibrosis [RCV000046342] Chr7:117559644 [GRCh38]
Chr7:117199698 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.1579G>C (p.Glu527Gln) single nucleotide variant Cystic fibrosis [RCV000046343] Chr7:117559650 [GRCh38]
Chr7:117199704 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1585-9412A>G single nucleotide variant Cystic fibrosis [RCV000577289] Chr7:117578327 [GRCh38]
Chr7:117218381 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.1584+1G>A single nucleotide variant CFTR-related disorder [RCV001831730]|Cystic fibrosis [RCV000576560] Chr7:117559656 [GRCh38]
Chr7:117199710 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1584+1G>T single nucleotide variant Cystic fibrosis [RCV001377419] Chr7:117559656 [GRCh38]
Chr7:117199710 [GRCh37]
Chr7:7q31.2
likely pathogenic|not provided
NM_000492.4(CFTR):c.1584+2T>C single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566864]|Cystic fibrosis [RCV001009440] Chr7:117559657 [GRCh38]
Chr7:117199711 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.3(CFTR):c.1584+51_1584+61dupTACCCAAATTA duplication Cystic fibrosis [RCV000046349] Chr7:117559706..117559716 [GRCh38]
Chr7:117199760..117199770 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1584G>T (p.Glu528Asp) single nucleotide variant Cystic fibrosis [RCV000577045]|not provided [RCV000731021] Chr7:117559655 [GRCh38]
Chr7:117199709 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.1585-2A>G single nucleotide variant CFTR-related disorder [RCV001835654]|Cystic fibrosis [RCV000577663] Chr7:117587737 [GRCh38]
Chr7:117227791 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.1585-9T>A single nucleotide variant Cystic fibrosis [RCV000577121] Chr7:117587730 [GRCh38]
Chr7:117227784 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.1585G>C (p.Asp529His) single nucleotide variant Cystic fibrosis [RCV000046355] Chr7:117587739 [GRCh38]
Chr7:117227793 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1586A>G (p.Asp529Gly) single nucleotide variant Cystic fibrosis [RCV001857384]|not provided [RCV000730611]|not specified [RCV004700329] Chr7:117587740 [GRCh38]
Chr7:117227794 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.1588A>C (p.Ile530Leu) single nucleotide variant Cystic fibrosis [RCV000577237] Chr7:117587742 [GRCh38]
Chr7:117227796 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1597T>C (p.Phe533Leu) single nucleotide variant Cystic fibrosis [RCV000577212]|not specified [RCV003478986] Chr7:117587751 [GRCh38]
Chr7:117227805 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.1606A>T (p.Lys536Ter) single nucleotide variant Cystic fibrosis [RCV000577553] Chr7:117587760 [GRCh38]
Chr7:117227814 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1611_1612del (p.Asp537fs) deletion Cystic fibrosis [RCV000577379] Chr7:117587764..117587765 [GRCh38]
Chr7:117227818..117227819 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.1611C>A (p.Asp537Glu) single nucleotide variant Cystic fibrosis [RCV000046362] Chr7:117587765 [GRCh38]
Chr7:117227819 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1631G>T (p.Gly544Val) single nucleotide variant Cystic fibrosis [RCV000577022] Chr7:117587785 [GRCh38]
Chr7:117227839 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.1635_1640delAATCAC (p.Ile546_Thr547del) deletion Cystic fibrosis [RCV000046365] Chr7:117587789..117587794 [GRCh38]
Chr7:117227843..117227848 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.164+12T>C single nucleotide variant CFTR-related disorder [RCV004537223]|Cystic fibrosis [RCV000577399]|not provided [RCV000590024]|not specified [RCV000855588] Chr7:117504375 [GRCh38]
Chr7:117144429 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.164+1G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566865]|CFTR-related disorder [RCV001826615]|Cystic fibrosis [RCV000046367] Chr7:117504364 [GRCh38]
Chr7:117144418 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.164+1G>C single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003466899]|Cystic fibrosis [RCV000577757] Chr7:117504364 [GRCh38]
Chr7:117144418 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.164+1G>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473459]|Cystic fibrosis [RCV000576651] Chr7:117504364 [GRCh38]
Chr7:117144418 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.164+2T>C single nucleotide variant CFTR-related disorder [RCV001831731]|Cystic fibrosis [RCV000577099]|Cystic fibrosis [RCV004795979] Chr7:117504365 [GRCh38]
Chr7:117144419 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.3(CFTR):c.164+2T>G single nucleotide variant Cystic fibrosis [RCV000046371] Chr7:117504365 [GRCh38]
Chr7:117144419 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.164+4dup duplication Cystic fibrosis [RCV000577584] Chr7:117504366..117504367 [GRCh38]
Chr7:117144420..117144421 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.164+9A>T single nucleotide variant CFTR-related disorder [RCV004537224]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001588870]|Cystic fibrosis [RCV000576924]|not specified [RCV001264463] Chr7:117504372 [GRCh38]
Chr7:117144426 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.1642_1643del (p.Leu548fs) deletion Cystic fibrosis [RCV001009430] Chr7:117587796..117587797 [GRCh38]
Chr7:117227850..117227851 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1648G>A (p.Gly550Arg) single nucleotide variant Cystic fibrosis [RCV000577471] Chr7:117587802 [GRCh38]
Chr7:117227856 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1648G>T (p.Gly550Ter) single nucleotide variant CFTR-related disorder [RCV001826616]|Cystic fibrosis [RCV000046380] Chr7:117587802 [GRCh38]
Chr7:117227856 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.165-10T>G single nucleotide variant Cystic fibrosis [RCV000046381] Chr7:117509024 [GRCh38]
Chr7:117149078 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.165-1G>A single nucleotide variant CFTR-related disorder [RCV001826617]|Cystic fibrosis [RCV000046382]|not provided [RCV000280788] Chr7:117509033 [GRCh38]
Chr7:117149087 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.165-2A>G single nucleotide variant Cystic fibrosis [RCV001009517]|Cystic fibrosis [RCV002284359] Chr7:117509032 [GRCh38]
Chr7:117149086 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.165-3C>A single nucleotide variant Cystic fibrosis [RCV000046384] Chr7:117509031 [GRCh38]
Chr7:117149085 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.165-3C>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473460]|Cystic fibrosis [RCV000046385]|Cystic fibrosis [RCV001004227]|Cystic fibrosis [RCV001009538]|not provided [RCV003233099] Chr7:117509031 [GRCh38]
Chr7:117149085 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.165-50A>G single nucleotide variant Cystic fibrosis [RCV002218328] Chr7:117508984 [GRCh38]
Chr7:117149038 [GRCh37]
Chr7:7q31.2
likely benign|not provided
NM_000492.4(CFTR):c.1650del (p.Gly551fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV004566866]|CFTR-related disorder [RCV001826618]|Cystic fibrosis [RCV000046387] Chr7:117587804 [GRCh38]
Chr7:117227858 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1652del (p.Gly551fs) deletion Cystic fibrosis [RCV000577566] Chr7:117587805 [GRCh38]
Chr7:117227859 [GRCh37]
Chr7:7q31.2
likely pathogenic|not provided
NM_000492.4(CFTR):c.1656del (p.Gln552fs) deletion Cystic fibrosis [RCV000757812] Chr7:117587809 [GRCh38]
Chr7:117227863 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1657C>G (p.Arg553Gly) single nucleotide variant Cystic fibrosis [RCV000577731] Chr7:117587811 [GRCh38]
Chr7:117227865 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.1660_1661insA (p.Ala554fs) insertion Cystic fibrosis [RCV000577154] Chr7:117587814..117587815 [GRCh38]
Chr7:117227868..117227869 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1663A>G (p.Arg555Gly) single nucleotide variant Cystic fibrosis [RCV000577188] Chr7:117587817 [GRCh38]
Chr7:117227871 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473461]|Cystic fibrosis [RCV000046399]|Cystic fibrosis [RCV001004228]|Cystic fibrosis [RCV001009396]|ivacaftor response - Efficacy [RCV000660826]|not provided [RCV003480043] Chr7:117509035 [GRCh38]
Chr7:117149089 [GRCh37]
Chr7:7q31.2
pathogenic|drug response|not provided
NM_000492.4(CFTR):c.1670del (p.Ser557fs) deletion CFTR-related disorder [RCV001826619]|Cystic fibrosis [RCV000577016] Chr7:117587824 [GRCh38]
Chr7:117227878 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1674del (p.Ala559fs) deletion Cystic fibrosis [RCV001009429] Chr7:117587828 [GRCh38]
Chr7:117227882 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.1676C>A (p.Ala559Glu) single nucleotide variant Cystic fibrosis [RCV000046404] Chr7:117587830 [GRCh38]
Chr7:117227884 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.1676C>T (p.Ala559Val) single nucleotide variant Cystic fibrosis [RCV000046405] Chr7:117587830 [GRCh38]
Chr7:117227884 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1678A>G (p.Arg560Gly) single nucleotide variant Cystic fibrosis [RCV000577276]|not specified [RCV002222371] Chr7:117587832 [GRCh38]
Chr7:117227886 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.1680-877G>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473462]|CFTR-related disorder [RCV004537225]|Cystic fibrosis [RCV000046407]|not provided [RCV000759031] Chr7:117589476 [GRCh38]
Chr7:117229530 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.1680-870T>A single nucleotide variant CFTR-related disorder [RCV004542715]|Cystic fibrosis [RCV000046408]|not provided [RCV000759029]|not specified [RCV000150338] Chr7:117589483 [GRCh38]
Chr7:117229537 [GRCh37]
Chr7:7q31.2
benign|not provided
NM_000492.4(CFTR):c.1679+16T>C single nucleotide variant Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001588871]|Cystic fibrosis [RCV000668354]|not specified [RCV000781262] Chr7:117587849 [GRCh38]
Chr7:117227903 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.1679+18G>A single nucleotide variant Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001588872]|Cystic fibrosis [RCV000668835]|not provided [RCV000590318] Chr7:117587851 [GRCh38]
Chr7:117227905 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.1679+1G>C single nucleotide variant CFTR-related disorder [RCV001826620]|Cystic fibrosis [RCV000046411] Chr7:117587834 [GRCh38]
Chr7:117227888 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1679+5A>G single nucleotide variant Cystic fibrosis [RCV000577573] Chr7:117587838 [GRCh38]
Chr7:117227892 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1680-26T>C single nucleotide variant Cystic fibrosis [RCV000669843] Chr7:117590327 [GRCh38]
Chr7:117230381 [GRCh37]
Chr7:7q31.2
likely benign|not provided
NM_000492.4(CFTR):c.1680-886A>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763576]|CFTR-related disorder [RCV001027897]|Cystic fibrosis [RCV000046417]|Cystic fibrosis [RCV001004263]|not provided [RCV000724668]|not specified [RCV000781239] Chr7:117589467 [GRCh38]
Chr7:117229521 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser) single nucleotide variant Cystic fibrosis [RCV000576677]|not provided [RCV004700330] Chr7:117590353 [GRCh38]
Chr7:117230407 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1684G>C (p.Val562Leu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002496709]|CFTR-related disorder [RCV001826621]|Cystic fibrosis [RCV000046421]|not provided [RCV000417570]|not specified [RCV000825895] Chr7:117590357 [GRCh38]
Chr7:117230411 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.1687T>G (p.Tyr563Asp) single nucleotide variant Cystic fibrosis [RCV000577631] Chr7:117590360 [GRCh38]
Chr7:117230414 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.168del (p.Glu56fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV005031490]|CFTR-related disorder [RCV001831732]|Cystic fibrosis [RCV000577088]|not provided [RCV001284130] Chr7:117509036 [GRCh38]
Chr7:117149090 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.1694A>G (p.Asp565Gly) single nucleotide variant CFTR-related disorder [RCV001831733]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001588873]|Cystic fibrosis [RCV000576976]|Cystic fibrosis [RCV001009513]|not specified [RCV002469000] Chr7:117590367 [GRCh38]
Chr7:117230421 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.1696G>A (p.Ala566Thr) single nucleotide variant not provided [RCV004697332]|not specified [RCV003988445] Chr7:117590369 [GRCh38]
Chr7:117230423 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.169T>C (p.Trp57Arg) single nucleotide variant Cystic fibrosis [RCV000577294]|not provided [RCV001269511] Chr7:117509038 [GRCh38]
Chr7:117149092 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.169T>G (p.Trp57Gly) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473463]|CFTR-related disorder [RCV004537226]|Cystic fibrosis [RCV000577563]|not provided [RCV003114230] Chr7:117509038 [GRCh38]
Chr7:117149092 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1703T>A (p.Leu568Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566867]|Cystic fibrosis [RCV000046430] Chr7:117590376 [GRCh38]
Chr7:117230430 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.1703del (p.Leu568fs) deletion CFTR-related disorder [RCV001831734]|Cystic fibrosis [RCV000576635]|not provided [RCV000755914] Chr7:117590374 [GRCh38]
Chr7:117230428 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1704G>T (p.Leu568Phe) single nucleotide variant Cystic fibrosis [RCV000576998]|not specified [RCV003317060] Chr7:117590377 [GRCh38]
Chr7:117230431 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.1705T>C (p.Tyr569His) single nucleotide variant Cystic fibrosis [RCV000577252]|not provided [RCV000985680] Chr7:117590378 [GRCh38]
Chr7:117230432 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473464]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031491]|CFTR-related disorder [RCV001826622]|Cystic fibrosis [RCV000046434]|Cystic fibrosis [RCV001004268]|not provided [RCV001269564]|not specified [RCV000780130] Chr7:117590378 [GRCh38]
Chr7:117230432 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1706A>G (p.Tyr569Cys) single nucleotide variant Cystic fibrosis [RCV000577599] Chr7:117590379 [GRCh38]
Chr7:117230433 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1707T>A (p.Tyr569Ter) single nucleotide variant Cystic fibrosis [RCV000577826] Chr7:117590380 [GRCh38]
Chr7:117230434 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.170G>A (p.Trp57Ter) single nucleotide variant CFTR-related disorder [RCV001826623]|Cystic fibrosis [RCV000046437]|Cystic fibrosis [RCV001009511] Chr7:117509039 [GRCh38]
Chr7:117149093 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser) single nucleotide variant CFTR-related disorder [RCV001835655]|Cystic fibrosis [RCV000577164] Chr7:117590385 [GRCh38]
Chr7:117230439 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000492.4(CFTR):c.1714_1715del (p.Asp572fs) deletion Cystic fibrosis [RCV000577465] Chr7:117590386..117590387 [GRCh38]
Chr7:117230440..117230441 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1714G>A (p.Asp572Asn) single nucleotide variant Cystic fibrosis [RCV000577056] Chr7:117590387 [GRCh38]
Chr7:117230441 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.1720C>T (p.Pro574Ser) single nucleotide variant Cystic fibrosis [RCV000577818] Chr7:117590393 [GRCh38]
Chr7:117230447 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1726G>T (p.Gly576Ter) single nucleotide variant Cystic fibrosis [RCV000576993] Chr7:117590399 [GRCh38]
Chr7:117230453 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.172G>A (p.Asp58Asn) single nucleotide variant Cystic fibrosis [RCV000577317] Chr7:117509041 [GRCh38]
Chr7:117149095 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1730A>T (p.Tyr577Phe) single nucleotide variant Cystic fibrosis [RCV000577606]|not provided [RCV001811321] Chr7:117590403 [GRCh38]
Chr7:117230457 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.1735G>T (p.Asp579Tyr) single nucleotide variant Cystic fibrosis [RCV000577439] Chr7:117590408 [GRCh38]
Chr7:117230462 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1736A>C (p.Asp579Ala) single nucleotide variant not specified [RCV004527018] Chr7:117590409 [GRCh38]
Chr7:117230463 [GRCh37]
Chr7:7q31.2
drug response|uncertain significance|not provided
NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473465]|CFTR-related disorder [RCV001831735]|Cystic fibrosis [RCV000577633]|Cystic fibrosis [RCV001004270]|Cystic fibrosis [RCV001009377]|ivacaftor response - Efficacy [RCV003227629]|not provided [RCV001577799] Chr7:117590409 [GRCh38]
Chr7:117230463 [GRCh37]
Chr7:7q31.2
pathogenic|drug response|not provided
NM_000492.4(CFTR):c.1738del (p.Val580fs) deletion Cystic fibrosis [RCV000577540] Chr7:117590411 [GRCh38]
Chr7:117230465 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.173A>G (p.Asp58Gly) single nucleotide variant Cystic fibrosis [RCV000576997]|not specified [RCV004525864] Chr7:117509042 [GRCh38]
Chr7:117149096 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.1744A>T (p.Thr582Ser) single nucleotide variant Cystic fibrosis [RCV002400414]|Hereditary pancreatitis [RCV002290861]|not specified [RCV002282828] Chr7:117590417 [GRCh38]
Chr7:117230471 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.1745C>G (p.Thr582Arg) single nucleotide variant Cystic fibrosis [RCV000577495] Chr7:117590418 [GRCh38]
Chr7:117230472 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile) single nucleotide variant Cystic fibrosis [RCV000576955]|not specified [RCV000781252] Chr7:117590418 [GRCh38]
Chr7:117230472 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.174_177del (p.Asp58fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003466900]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031492]|CFTR-related disorder [RCV001826624]|Cystic fibrosis [RCV000576840]|not specified [RCV000781245] Chr7:117509041..117509044 [GRCh38]
Chr7:117149095..117149098 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566868]|CFTR-related disorder [RCV004528257]|Cystic fibrosis [RCV000577259] Chr7:117590436 [GRCh38]
Chr7:117230490 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000492.4(CFTR):c.1766+1G>C single nucleotide variant CFTR-related disorder [RCV001835656]|Cystic fibrosis [RCV000046463]|not specified [RCV001000966] Chr7:117590440 [GRCh38]
Chr7:117230494 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1766+1G>T single nucleotide variant CFTR-related disorder [RCV001826625]|Cystic fibrosis [RCV000046464]|not provided [RCV001090999] Chr7:117590440 [GRCh38]
Chr7:117230494 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.1766+3A>C single nucleotide variant Cystic fibrosis [RCV000757829] Chr7:117590442 [GRCh38]
Chr7:117230496 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.1766+5G>A single nucleotide variant Cystic fibrosis [RCV000577703] Chr7:117590444 [GRCh38]
Chr7:117230498 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1766+5G>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473294]|Bronchiectasis with or without elevated sweat chloride 1 [RCV004795959]|CFTR-related disorder [RCV004537158]|Cystic fibrosis [RCV000046468]|Cystic fibrosis [RCV001004274]|not provided [RCV001528994] Chr7:117590444 [GRCh38]
Chr7:117230498 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1766+73T>G single nucleotide variant Cystic fibrosis [RCV000577334]|not provided [RCV000729354] Chr7:117590512 [GRCh38]
Chr7:117230566 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473467]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005042129]|CFTR-related disorder [RCV001826626]|Cystic fibrosis [RCV000757803]|not provided [RCV004703200] Chr7:117590439 [GRCh38]
Chr7:117230493 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records|not provided
NM_000492.4(CFTR):c.1766G>C (p.Ser589Thr) single nucleotide variant Cystic fibrosis [RCV000577652]|not specified [RCV003317061] Chr7:117590439 [GRCh38]
Chr7:117230493 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.1766G>T (p.Ser589Ile) single nucleotide variant Cystic fibrosis [RCV000577310]|Cystic fibrosis [RCV001004272] Chr7:117590439 [GRCh38]
Chr7:117230493 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.1786_1787del (p.Met595_Ala596insTer) deletion Cystic fibrosis [RCV000577679] Chr7:117591953..117591954 [GRCh38]
Chr7:117232007..117232008 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.178G>A (p.Glu60Lys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566869]|Cystic fibrosis [RCV000577024] Chr7:117509047 [GRCh38]
Chr7:117149101 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1792A>T (p.Lys598Ter) single nucleotide variant Cystic fibrosis [RCV002284248] Chr7:117591959 [GRCh38]
Chr7:117232013 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.1792_1798del (p.Lys598fs) deletion CFTR-related disorder [RCV001027890]|Cystic fibrosis [RCV000046477] Chr7:117591959..117591965 [GRCh38]
Chr7:117232013..117232019 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.1797T>A (p.Thr599=) single nucleotide variant Cystic fibrosis [RCV000046478] Chr7:117591964 [GRCh38]
Chr7:117232018 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1798A>G (p.Arg600Gly) single nucleotide variant Cystic fibrosis [RCV000577515] Chr7:117591965 [GRCh38]
Chr7:117232019 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1801A>T (p.Ile601Phe) single nucleotide variant Cystic fibrosis [RCV000577043]|Cystic fibrosis [RCV001009373] Chr7:117591968 [GRCh38]
Chr7:117232022 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.4(CFTR):c.1802T>C (p.Ile601Thr) single nucleotide variant Cystic fibrosis [RCV000577395] Chr7:117591969 [GRCh38]
Chr7:117232023 [GRCh37]
Chr7:7q31.2
likely pathogenic|not provided
NM_000492.4(CFTR):c.1807G>T (p.Val603Phe) single nucleotide variant Cystic fibrosis [RCV000577777] Chr7:117591974 [GRCh38]
Chr7:117232028 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.1811C>G (p.Thr604Ser) single nucleotide variant Cystic fibrosis [RCV000577114]|not provided [RCV001800352]|not specified [RCV003235012] Chr7:117591978 [GRCh38]
Chr7:117232032 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002496491]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003466886]|CFTR-related disorder [RCV001831623]|Cystic fibrosis [RCV000032712]|Cystic fibrosis [RCV001004494]|not provided [RCV000757078]|not specified [RCV000781258] Chr7:117611743 [GRCh38]
Chr7:117251797 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3(CFTR):c.1210-14_1210-13delTG deletion AllHighlyPenetrant [RCV000036516]|not specified [RCV000036516] Chr7:117548627..117548628 [GRCh38]
Chr7:117188681..117188682 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) single nucleotide variant CFTR-related disorder [RCV001027903]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001588847]|Cystic fibrosis [RCV000231696]|Hereditary pancreatitis [RCV000119037]|Pancreatitis [RCV000844954]|not provided [RCV000422767]|not specified [RCV000036518] Chr7:117559655 [GRCh38]
Chr7:117199709 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.2562T>G (p.Thr854=) single nucleotide variant CFTR-related disorder [RCV001095147]|Cystic fibrosis [RCV000329705]|Hereditary pancreatitis [RCV002255262]|not provided [RCV001811244]|not specified [RCV000036519] Chr7:117595001 [GRCh38]
Chr7:117235055 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000492.3(CFTR):c.744-11_744-8delTTGA deletion AllHighlyPenetrant [RCV000036520]|not specified [RCV000036520] Chr7:117536537..117536540 [GRCh38]
Chr7:117176571..117176594 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.744-33GATT[6] microsatellite CFTR-related disorder [RCV001826557]|Cystic fibrosis [RCV001009355]|not provided [RCV001711102]|not specified [RCV000036521] Chr7:117536515..117536518 [GRCh38]
Chr7:117176569..117176572 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.964G>A (p.Val322Met) single nucleotide variant CFTR-related disorder [RCV001826558]|Cystic fibrosis [RCV002371828]|not provided [RCV004791241]|not specified [RCV000036522] Chr7:117540194 [GRCh38]
Chr7:117180248 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
NM_000492.4(CFTR):c.1254T>C (p.Asn418=) single nucleotide variant Cystic fibrosis [RCV001272208]|not specified [RCV000173691] Chr7:117548685 [GRCh38]
Chr7:117188739 [GRCh37]
Chr7:7q31.2
benign|likely benign|uncertain significance
NM_000492.4(CFTR):c.1210-14_1210-13insTG insertion not specified [RCV000173695] Chr7:117548627..117548628 [GRCh38]
Chr7:117188681..117188682 [GRCh37]
Chr7:7q31.2
benign
Single allele duplication not specified [RCV000173696] Chr7:117188689..117188690 [GRCh37] benign
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys) single nucleotide variant CFTR-related disorder [RCV001095146]|Cystic fibrosis [RCV000366455]|not provided [RCV000224343]|not specified [RCV000173697] Chr7:117548682 [GRCh38]
Chr7:117188736 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 7q31.1-31.31(chr7:110524677-118306203)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054159]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054159]|See cases [RCV000054159] Chr7:110524677..118306203 [GRCh38]
Chr7:110164734..117946257 [GRCh37]
Chr7:109951970..117733493 [NCBI36]
Chr7:7q31.1-31.31
pathogenic
GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1 copy number loss See cases [RCV000054160] Chr7:113799835..124899218 [GRCh38]
Chr7:113439890..124539272 [GRCh37]
Chr7:113227126..124326508 [NCBI36]
Chr7:7q31.1-31.33
pathogenic
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe) single nucleotide variant CFTR-related disorder [RCV001158657]|Cystic fibrosis [RCV001588894]|not provided [RCV000429132] Chr7:117548696 [GRCh38]
Chr7:117188750 [GRCh37]
Chr7:116975986 [NCBI36]
Chr7:7q31.2
benign|uncertain significance|not provided
NM_000492.3(CFTR):c.1063C>T (p.Pro355Ser) single nucleotide variant Malignant melanoma [RCV000061540] Chr7:117540293 [GRCh38]
Chr7:117180347 [GRCh37]
Chr7:116967583 [NCBI36]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.3743C>T (p.Ser1248Leu) single nucleotide variant Malignant melanoma [RCV000061541] Chr7:117642463 [GRCh38]
Chr7:117282517 [GRCh37]
Chr7:117069753 [NCBI36]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473440]|CFTR-related disorder [RCV001826607]|Cystic fibrosis [RCV000056337]|Cystic fibrosis [RCV001004247]|not provided [RCV000593715] Chr7:117540237 [GRCh38]
Chr7:117180291 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002496707]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473441]|Cystic fibrosis [RCV000056338]|Cystic fibrosis [RCV001004248]|not provided [RCV000724655] Chr7:117540251 [GRCh38]
Chr7:117180305 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.3(CFTR):c.1022_1023insTC (p.Phe342Hisfs) insertion Cystic fibrosis [RCV000056339] Chr7:117540252..117540253 [GRCh38]
Chr7:117180306..117180307 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1116+1G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473444]|CFTR-related disorder [RCV001027907]|Cystic fibrosis [RCV000056340]|Cystic fibrosis [RCV001004255] Chr7:117540347 [GRCh38]
Chr7:117180401 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.115C>T (p.Gln39Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473446]|CFTR-related disorder [RCV001831718]|Cystic fibrosis [RCV000056342]|not provided [RCV004808568]|not specified [RCV000781224] Chr7:117504314 [GRCh38]
Chr7:117144368 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1202G>A (p.Trp401Ter) single nucleotide variant CFTR-related disorder [RCV001831720]|Cystic fibrosis [RCV000056343] Chr7:117542101 [GRCh38]
Chr7:117182155 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1203G>A (p.Trp401Ter) single nucleotide variant CFTR-related disorder [RCV001831721]|Cystic fibrosis [RCV000056344] Chr7:117542102 [GRCh38]
Chr7:117182156 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1209+1G>A single nucleotide variant CFTR-related disorder [RCV001831722]|Cystic fibrosis [RCV000056345] Chr7:117542109 [GRCh38]
Chr7:117182163 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3(CFTR):c.1326_1329dupAGAT (p.Ile444Argfs) duplication Cystic fibrosis [RCV000056346] Chr7:117548757..117548760 [GRCh38]
Chr7:117188811..117188814 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1393-1G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473452]|CFTR-related disorder [RCV001831726]|Cystic fibrosis [RCV000056347]|Cystic fibrosis [RCV001004449]|not provided [RCV000506225]|not specified [RCV000506518] Chr7:117559463 [GRCh38]
Chr7:117199517 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1397C>A (p.Ser466Ter) single nucleotide variant CFTR-related disorder [RCV001826610]|Cystic fibrosis [RCV000056348]|Cystic fibrosis [RCV001009519] Chr7:117559468 [GRCh38]
Chr7:117199522 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1466C>A (p.Ser489Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473456]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005042128]|CFTR-related disorder [RCV001831728]|Cystic fibrosis [RCV000056349]|not provided [RCV001528800] Chr7:117559537 [GRCh38]
Chr7:117199591 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763573]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473249]|CFTR-related disorder [RCV001826538]|Cystic fibrosis [RCV000056350]|Cystic fibrosis [RCV001004466]|ivacaftor response - Efficacy [RCV000211129]|not provided [RCV000508411] Chr7:117587801 [GRCh38]
Chr7:117227855 [GRCh37]
Chr7:7q31.2
pathogenic|drug response
NM_000492.3:c.1679+1.6kbA>G variation Cystic fibrosis [RCV000056351] Chr7:7q31.2 pathogenic
NM_000492.4(CFTR):c.1680-1G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473293]|CFTR-related disorder [RCV001826602]|Cystic fibrosis [RCV000056352]|Cystic fibrosis [RCV001004264]|not provided [RCV000985679] Chr7:117590352 [GRCh38]
Chr7:117230406 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473466]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031493]|CFTR-related disorder [RCV001831737]|Cystic fibrosis [RCV000056353]|Cystic fibrosis [RCV001004271]|not provided [RCV000724156]|not specified [RCV000781242] Chr7:117590426 [GRCh38]
Chr7:117230480 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1766+3A>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003466901]|CFTR-related disorder [RCV002228155]|Cystic fibrosis [RCV000056354]|not provided [RCV000301070] Chr7:117590442 [GRCh38]
Chr7:117230496 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.178G>T (p.Glu60Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763147]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473244]|CFTR-related disorder [RCV001826532]|Cystic fibrosis [RCV000056355]|Cystic fibrosis [RCV001004229]|not provided [RCV001528716] Chr7:117509047 [GRCh38]
Chr7:117149101 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1A>G (p.Met1Val) single nucleotide variant CFTR-related disorder [RCV001826627]|Cystic fibrosis [RCV000056356]|not provided [RCV000755921] Chr7:117480095 [GRCh38]
Chr7:117120149 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002496711]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473472]|CFTR-related disorder [RCV001826628]|Cystic fibrosis [RCV000056357]|Cystic fibrosis [RCV001004231]|Hereditary pancreatitis [RCV002247433]|ivacaftor response - Efficacy [RCV000660821]|not provided [RCV000724153] Chr7:117509069 [GRCh38]
Chr7:117149123 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|drug response
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473476]|CFTR-related disorder [RCV001826631]|Cystic fibrosis [RCV000056359]|Cystic fibrosis [RCV001004468]|not provided [RCV000727640]|not specified [RCV001000919] Chr7:117592292 [GRCh38]
Chr7:117232346 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473477]|CFTR-related disorder [RCV001831744]|Cystic fibrosis [RCV000056360]|not provided [RCV001269766] Chr7:117592362 [GRCh38]
Chr7:117232416 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2215del (p.Val739fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003473478]|CFTR-related disorder [RCV001835658]|Cystic fibrosis [RCV000056361]|not provided [RCV001528510] Chr7:117592382 [GRCh38]
Chr7:117232436 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473290]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031482]|CFTR-related disorder [RCV001831710]|Cystic fibrosis [RCV000056362]|Cystic fibrosis [RCV001004232]|not provided [RCV001284476] Chr7:117509092 [GRCh38]
Chr7:117149146 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473480]|CFTR-related disorder [RCV001831746]|Cystic fibrosis [RCV000056363]|Cystic fibrosis [RCV001004473]|not provided [RCV000759035] Chr7:117592457 [GRCh38]
Chr7:117232511 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2453del (p.Leu818fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV002496744]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003474640]|CFTR-related disorder [RCV001831811]|Cystic fibrosis [RCV000056364]|Cystic fibrosis [RCV001004477] Chr7:117592619 [GRCh38]
Chr7:117232673 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2464G>T (p.Glu822Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002496712]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473485]|CFTR-related disorder [RCV001831750]|Cystic fibrosis [RCV000056365]|Cystic fibrosis [RCV001004478]|not provided [RCV001200188] Chr7:117592631 [GRCh38]
Chr7:117232685 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473487]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031498]|CFTR-related disorder [RCV001826638]|Cystic fibrosis [RCV000056366]|Hereditary pancreatitis [RCV001197557] Chr7:117594930 [GRCh38]
Chr7:117234984 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2537G>A (p.Trp846Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004566873]|CFTR-related disorder [RCV001826640]|Cystic fibrosis [RCV000056367]|not provided [RCV001529697]|not specified [RCV000781236] Chr7:117594976 [GRCh38]
Chr7:117235030 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2583del (p.Phe861fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003473488]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031499]|CFTR-related disorder [RCV001027906]|Cystic fibrosis [RCV000056368] Chr7:117595018 [GRCh38]
Chr7:117235072 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.273+1G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002490612]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473493]|CFTR-related disorder [RCV001835660]|Cystic fibrosis [RCV000056369]|not provided [RCV000224473]|not specified [RCV000780139] Chr7:117509143 [GRCh38]
Chr7:117149197 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.274-1G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763148]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473292]|CFTR-related disorder [RCV001831712]|Cystic fibrosis [RCV000056370]|Cystic fibrosis [RCV001004422]|not provided [RCV000224434] Chr7:117530898 [GRCh38]
Chr7:117170952 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro) single nucleotide variant CFTR-related disorder [RCV001826648]|Cystic fibrosis [RCV000056371] Chr7:117603654 [GRCh38]
Chr7:117243708 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474554]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031500]|CFTR-related disorder [RCV001027913]|Cystic fibrosis [RCV000056372]|Cystic fibrosis [RCV001004489]|Cystic fibrosis [RCV001009364]|ivacaftor response - Efficacy [RCV000660828]|not provided [RCV000723381] Chr7:117603708 [GRCh38]
Chr7:117243762 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|drug response
NM_000492.4(CFTR):c.2875del (p.Ala959fs) deletion CFTR-related disorder [RCV001831759]|Cystic fibrosis [RCV000056373]|not provided [RCV000985685]|not specified [RCV000781227] Chr7:117603749 [GRCh38]
Chr7:117243803 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2908G>C (p.Gly970Arg) single nucleotide variant CFTR-related disorder [RCV001826650]|Cystic fibrosis [RCV000056374] Chr7:117603782 [GRCh38]
Chr7:117243836 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474557]|CFTR-related disorder [RCV001831761]|Cystic fibrosis [RCV000056375]|not specified [RCV000781254] Chr7:117530917 [GRCh38]
Chr7:117170971 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2989-1G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002490613]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003466906]|CFTR-related disorder [RCV001831764]|Cystic fibrosis [RCV000056376]|not provided [RCV001781375]|not specified [RCV000780171] Chr7:117610518 [GRCh38]
Chr7:117250572 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474572]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031508]|CFTR-related disorder [RCV001826661]|Cystic fibrosis [RCV000056377]|Cystic fibrosis [RCV001004303]|not provided [RCV001508221] Chr7:117611671 [GRCh38]
Chr7:117251725 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.325_327delinsG (p.Tyr109fs) indel Bronchiectasis with or without elevated sweat chloride 1 [RCV003474573]|Cystic fibrosis [RCV000056378] Chr7:117530950..117530952 [GRCh38]
Chr7:117171004..117171006 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763157]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473243]|CFTR-related disorder [RCV001831621]|Cystic fibrosis [RCV000056379]|Cystic fibrosis [RCV001004305]|not provided [RCV000522700]|not specified [RCV000781257] Chr7:117611717 [GRCh38]
Chr7:117251771 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3276C>G (p.Tyr1092Ter) single nucleotide variant CFTR-related disorder [RCV001831551]|Cystic fibrosis [RCV000056380]|Cystic fibrosis [RCV001009514]|not specified [RCV000780122] Chr7:117611717 [GRCh38]
Chr7:117251771 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3310G>T (p.Glu1104Ter) single nucleotide variant CFTR-related disorder [RCV001831774]|Cystic fibrosis [RCV000056381] Chr7:117611751 [GRCh38]
Chr7:117251805 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763150]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473295]|CFTR-related disorder [RCV001826603]|Cystic fibrosis [RCV000056382]|Cystic fibrosis [RCV001004428]|Cystic fibrosis [RCV001009394]|ivacaftor response - Efficacy [RCV003227627]|not provided [RCV000727627] Chr7:117530974 [GRCh38]
Chr7:117171028 [GRCh37]
Chr7:7q31.2
pathogenic|drug response
NM_000492.4(CFTR):c.3587C>G (p.Ser1196Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002490585]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473291]|CFTR-related disorder [RCV001831711]|Cystic fibrosis [RCV000056383]|not provided [RCV004998133] Chr7:117627640 [GRCh38]
Chr7:117267694 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3612G>A (p.Trp1204Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474585]|CFTR-related disorder [RCV001826668]|Cystic fibrosis [RCV000056384]|Cystic fibrosis [RCV001009526]|not provided [RCV000790735]|not specified [RCV000781267] Chr7:117627665 [GRCh38]
Chr7:117267719 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.366T>A (p.Tyr122Ter) single nucleotide variant CFTR-related disorder [RCV001831622]|Cystic fibrosis [RCV000056385]|not provided [RCV001529907] Chr7:117530991 [GRCh38]
Chr7:117171045 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763160]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003474587]|CFTR-related disorder [RCV001831779]|Cystic fibrosis [RCV000056386]|Cystic fibrosis [RCV001004504]|Hereditary pancreatitis [RCV002247437]|ivacaftor response - Efficacy [RCV000211150] Chr7:117642451 [GRCh38]
Chr7:117282505 [GRCh37]
Chr7:7q31.2
pathogenic|drug response
NM_000492.4(CFTR):c.3964-78_4242+577del deletion Cystic fibrosis [RCV000056389] Chr7:117664607..117666138 [GRCh38]
Chr7:117304664..117306195 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.4077_4080delinsAA (p.Val1360fs) indel Bronchiectasis with or without elevated sweat chloride 1 [RCV005031520]|CFTR-related disorder [RCV004537231]|Cystic fibrosis [RCV000056390]|Cystic fibrosis [RCV001004515] Chr7:117664801..117664804 [GRCh38]
Chr7:117304855..117304858 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.4251del (p.Glu1418fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003474602]|CFTR-related disorder [RCV001826685]|Cystic fibrosis [RCV000056391]|Hereditary pancreatitis [RCV002247438]|not provided [RCV000727667]|not specified [RCV001002184] Chr7:117666915 [GRCh38]
Chr7:117306969 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.442del (p.Ile148fs) deletion CFTR-related disorder [RCV001826687]|Cystic fibrosis [RCV000056392]|not provided [RCV000727641] Chr7:117531067 [GRCh38]
Chr7:117171121 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.531del (p.Ile177fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003474608]|CFTR-related disorder [RCV001826692]|Cystic fibrosis [RCV000056393]|Cystic fibrosis [RCV001004434]|not provided [RCV003114234] Chr7:117534316 [GRCh38]
Chr7:117174370 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763153]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473296]|CFTR-related disorder [RCV001831713]|Cystic fibrosis [RCV000056394]|Cystic fibrosis [RCV001004435]|Hereditary pancreatitis [RCV002247425]|ivacaftor response - Efficacy [RCV000211246]|not provided [RCV000508034] Chr7:117534318 [GRCh38]
Chr7:117174372 [GRCh37]
Chr7:7q31.2
pathogenic|drug response
NM_000492.3(CFTR):c.54-5940_273+10250del deletion Cystic fibrosis [RCV000056395]|Hereditary pancreatitis [RCV000119042]|Obstructive azoospermia [RCV001705711]|not specified [RCV000780152] Chr7:117498313..117519392 [GRCh38]
Chr7:117138367..117159446 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.579+3A>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474609]|Cystic fibrosis [RCV000056396]|Cystic fibrosis [RCV001004438]|Cystic fibrosis [RCV001009385]|Obstructive azoospermia [RCV001646982]|not provided [RCV000506239] Chr7:117534368 [GRCh38]
Chr7:117174422 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.579+5G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474610]|CFTR-related disorder [RCV001831796]|Cystic fibrosis [RCV000056397]|Cystic fibrosis [RCV001004439] Chr7:117534370 [GRCh38]
Chr7:117174424 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.580-1G>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002490616]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003466917]|CFTR-related disorder [RCV001835666]|Cystic fibrosis [RCV000056398]|Cystic fibrosis [RCV001004440] Chr7:117535247 [GRCh38]
Chr7:117175301 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.595C>T (p.His199Tyr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763155]|CFTR-related disorder [RCV001831798]|Cystic fibrosis [RCV000056399]|Cystic fibrosis [RCV001004441]|not provided [RCV000755925] Chr7:117535263 [GRCh38]
Chr7:117175317 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474612]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031529]|CFTR-related disorder [RCV001835667]|Cystic fibrosis [RCV000056400]|Cystic fibrosis [RCV001004442]|not provided [RCV000724656] Chr7:117535281 [GRCh38]
Chr7:117175335 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763566]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003474614]|CFTR-related disorder [RCV001826695]|Cystic fibrosis [RCV000056401]|Cystic fibrosis [RCV001004236] Chr7:117535326 [GRCh38]
Chr7:117175380 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.988G>T (p.Gly330Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473299]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005042122]|CFTR-related disorder [RCV001826604]|Cystic fibrosis [RCV000056402]|Cystic fibrosis [RCV001004245]|Inborn genetic diseases [RCV000623802]|not provided [RCV000760400]|not specified [RCV000780126] Chr7:117540218 [GRCh38]
Chr7:117180272 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.349C>A (p.Arg117Ser) single nucleotide variant ivacaftor response - Efficacy [RCV000660857] Chr7:117530974 [GRCh38]
Chr7:117171028 [GRCh37]
Chr7:7q31.2
drug response
NM_000492.4(CFTR):c.4118G>T (p.Ser1373Ile) single nucleotide variant Cystic fibrosis [RCV002321592]|not provided [RCV000116687] Chr7:117664842 [GRCh38]
Chr7:117304896 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs) duplication Bronchiectasis with or without elevated sweat chloride 1 [RCV003473035]|CFTR-related disorder [RCV001826442]|Cystic fibrosis [RCV000007605]|Cystic fibrosis [RCV001004471]|not provided [RCV000727574]|not specified [RCV000781235] Chr7:117592340..117592341 [GRCh38]
Chr7:117232394..117232395 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.105dup (p.Asp36fs) duplication Cystic fibrosis [RCV000576973] Chr7:117504303..117504304 [GRCh38]
Chr7:117144357..117144358 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1446dup (p.Lys483Ter) duplication Cystic fibrosis [RCV000577552] Chr7:117559515..117559516 [GRCh38]
Chr7:117199569..117199570 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.1681_1682insC (p.Val562Serfs) insertion Cystic fibrosis [RCV000046419] Chr7:117590355 [GRCh38]
Chr7:117230409 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.1742dup (p.Leu581fs) duplication Bronchiectasis with or without elevated sweat chloride 1 [RCV002496710]|CFTR-related disorder [RCV001831736]|Cystic fibrosis [RCV000577130]|not provided [RCV004791246] Chr7:117590411..117590412 [GRCh38]
Chr7:117230465..117230466 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.174_175insA (p.Arg59Lysfs) insertion Cystic fibrosis [RCV000046458] Chr7:117509044 [GRCh38]
Chr7:117149098 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.2010dupA (p.Leu671Ilefs) duplication Cystic fibrosis [RCV000046519] Chr7:117592177 [GRCh38]
Chr7:117232231 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2045dup (p.Gln685fs) duplication Cystic fibrosis [RCV000577477]|Cystic fibrosis [RCV001009523] Chr7:117592211..117592212 [GRCh38]
Chr7:117232265..117232266 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2083dup (p.Glu695fs) duplication Bronchiectasis with or without elevated sweat chloride 1 [RCV003466903]|CFTR-related disorder [RCV001826630]|Cystic fibrosis [RCV000801495]|not provided [RCV000507543] Chr7:117592246..117592247 [GRCh38]
Chr7:117232300..117232301 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2089dup (p.Arg697fs) duplication Bronchiectasis with or without elevated sweat chloride 1 [RCV003473475]|Cystic fibrosis [RCV001009461] Chr7:117592250..117592251 [GRCh38]
Chr7:117232304..117232305 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
CFTR:c.227_228insT (p.Trp79Leufs) duplication Cystic fibrosis [RCV000046569] Chr7:117509096..117509097 [GRCh38]
Chr7:117149150..117149151 [GRCh37]
Chr7:7q31.2
not provided
CFTR:c.228_229insT (p.Trp79Leufs) duplication Cystic fibrosis [RCV000046571] Chr7:117509097..117509098 [GRCh38]
Chr7:117149151..117149152 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.2393dup (p.Gln799fs) duplication Cystic fibrosis [RCV000577817]|not provided [RCV003476941] Chr7:117592556..117592557 [GRCh38]
Chr7:117232610..117232611 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2435dup (p.Leu812fs) duplication Cystic fibrosis [RCV001993398] Chr7:117592600..117592601 [GRCh38]
Chr7:117232654..117232655 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2502dup (p.Asp835Ter) duplication CFTR-related disorder [RCV001826639]|Cystic fibrosis [RCV001004479]|Cystic fibrosis [RCV001009446] Chr7:117594935..117594936 [GRCh38]
Chr7:117234989..117234990 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.2600_2601insA (p.Val868Serfs) insertion Cystic fibrosis [RCV000046631] Chr7:117595040 [GRCh38]
Chr7:117235094 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.2968dup (p.Thr990fs) duplication Cystic fibrosis [RCV004800082] Chr7:117606732..117606733 [GRCh38]
Chr7:117246786..117246787 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.3039dup (p.Tyr1014fs) duplication CFTR-related disorder [RCV001835662]|Cystic fibrosis [RCV000577781] Chr7:117610566..117610567 [GRCh38]
Chr7:117250620..117250621 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.4(CFTR):c.303dup (p.Leu102fs) duplication CFTR-related disorder [RCV001831768]|Cystic fibrosis [RCV000576952]|not specified [RCV000781238] Chr7:117530927..117530928 [GRCh38]
Chr7:117170981..117170982 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.3491dupT (p.Lys1165Terfs) duplication Cystic fibrosis [RCV000046912] Chr7:117627544 [GRCh38]
Chr7:117267598 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.3774_3775insG (p.Arg1259Glufs) insertion Cystic fibrosis [RCV000046982] Chr7:117642494 [GRCh38]
Chr7:117282548 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.3891dup (p.Gly1298fs) duplication CFTR-related disorder [RCV001831783]|Cystic fibrosis [RCV000577151] Chr7:117652858..117652859 [GRCh38]
Chr7:117292912..117292913 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.4039dupA (p.Ser1347Lysfs) duplication Cystic fibrosis [RCV000047060] Chr7:117664763 [GRCh38]
Chr7:117304817 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.4086_4087insT (p.Lys1363Terfs) insertion Cystic fibrosis [RCV000047069] Chr7:117664810 [GRCh38]
Chr7:117304864 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.420dupA (p.Ala141Serfs) duplication Cystic fibrosis [RCV000047107] Chr7:117531045 [GRCh38]
Chr7:117171099 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.50dup (p.Ser18fs) duplication CFTR-related disorder [RCV001826686]|Cystic fibrosis [RCV000577158]|not provided [RCV003137586] Chr7:117480137..117480138 [GRCh38]
Chr7:117120191..117120192 [GRCh37]
Chr7:7q31.2
pathogenic|not provided
NM_000492.3(CFTR):c.473_474insT (p.Leu159Phefs) insertion Cystic fibrosis [RCV000047150] Chr7:117531099 [GRCh38]
Chr7:117171153 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.3(CFTR):c.858dupA (p.Asn287Lysfs) duplication Cystic fibrosis [RCV000047268] Chr7:117536662 [GRCh38]
Chr7:117176716 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del) microsatellite Bronchiectasis with or without elevated sweat chloride 1 [RCV003473298]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031484]|CFTR-related disorder [RCV004734591]|Cystic fibrosis [RCV000047290]|Cystic fibrosis [RCV001004242]|not provided [RCV000759769] Chr7:117540157..117540159 [GRCh38]
Chr7:117180211..117180213 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|not provided
NM_000492.3(CFTR):c.1127_1128insA (p.Gln378Alafs) insertion Cystic fibrosis [RCV000056341] Chr7:117542027 [GRCh38]
Chr7:117182081 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3(CFTR):c.3885dupT (p.Ser1297Phefs) duplication Cystic fibrosis [RCV000056388] Chr7:117652853 [GRCh38]
Chr7:117292907 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.-8G>C single nucleotide variant CFTR-related disorder [RCV001095139]|Cystic fibrosis [RCV000280367]|Hereditary pancreatitis [RCV002258790]|not provided [RCV001705725]|not specified [RCV000078974] Chr7:117480087 [GRCh38]
Chr7:117120141 [GRCh37]
Chr7:7q31.2
benign|likely benign
NM_000492.3(CFTR):c.1210-12_1210-6T(5_9) variation AllHighlyPenetrant [RCV000078975]|not specified [RCV000078975] Chr7:117548629 [GRCh38]
Chr7:117188683 [GRCh37]
benign
NM_000492.4(CFTR):c.2769C>T (p.Ala923=) single nucleotide variant CFTR-related disorder [RCV001826712]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001588903]|Cystic fibrosis [RCV001440746]|not provided [RCV000589671]|not specified [RCV000855556] Chr7:117603643 [GRCh38]
Chr7:117243697 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) single nucleotide variant Cystic fibrosis [RCV000537570]|Hereditary pancreatitis [RCV002257404]|not provided [RCV000587160]|not specified [RCV000217477] Chr7:117603694 [GRCh38]
Chr7:117243748 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=) single nucleotide variant CFTR-related disorder [RCV001831818]|Cystic fibrosis [RCV000666455]|not provided [RCV000078998]|not specified [RCV000780156] Chr7:117627617 [GRCh38]
Chr7:117267671 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=) single nucleotide variant CFTR-related disorder [RCV001095148]|Cystic fibrosis [RCV000289147]|Hereditary pancreatitis [RCV000119036]|not provided [RCV001705726]|not specified [RCV000079002] Chr7:117642590 [GRCh38]
Chr7:117282644 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) single nucleotide variant CFTR-related disorder [RCV001158876]|Cystic fibrosis [RCV001007581]|Hereditary pancreatitis [RCV002257405]|not provided [RCV000590053]|not specified [RCV000150339] Chr7:117652865 [GRCh38]
Chr7:117292919 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.4242+13A>G single nucleotide variant CFTR-related disorder [RCV001160217]|Cystic fibrosis [RCV000987967]|Hereditary pancreatitis [RCV002256040]|not provided [RCV000587429]|not specified [RCV000079005] Chr7:117665577 [GRCh38]
Chr7:117305631 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) single nucleotide variant CFTR-related disorder [RCV001095182]|Cystic fibrosis [RCV000203821]|Hereditary pancreatitis [RCV002255281]|not provided [RCV001705727]|not specified [RCV000079006] Chr7:117666937 [GRCh38]
Chr7:117306991 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) single nucleotide variant CFTR-related disorder [RCV001095184]|Cystic fibrosis [RCV000353586]|Hereditary pancreatitis [RCV002256041]|not provided [RCV001811359]|not specified [RCV000079007] Chr7:117667054 [GRCh38]
Chr7:117307108 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000492.3(CFTR):c.744-33_744-6GATT(6_9) variation AllHighlyPenetrant [RCV000079012]|not specified [RCV000079012] Chr7:117536515..117536518 [GRCh38]
Chr7:117176569..117176572 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.869+11C>T single nucleotide variant CFTR-related disorder [RCV001095296]|Cystic fibrosis [RCV000402385]|not provided [RCV001647052]|not specified [RCV000079014] Chr7:117536684 [GRCh38]
Chr7:117176738 [GRCh37]
Chr7:7q31.2
benign|likely benign
NM_000492.4(CFTR):c.1408= (p.Val470=) single nucleotide variant Hereditary pancreatitis [RCV000119035]|not specified [RCV000152994] Chr7:117559479 [GRCh38]
Chr7:117199533 [GRCh37]
Chr7:7q31.2
benign
NM_000492.3(CFTR):c.54-5940_273+10250del deletion Hereditary pancreatitis [RCV000119042] Chr7:117498313..117519392 [GRCh38]
Chr7:7q31.2
pathogenic
NM_000492.3(CFTR):c.3963-78_4242+577del deletion Hereditary pancreatitis [RCV000119043] Chr7:117652853..117666141 [GRCh38]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3682G>C (p.Glu1228Gln) single nucleotide variant CFTR-related disorder [RCV001835361]|Cystic fibrosis [RCV001785806]|not provided [RCV001507712] Chr7:117627735 [GRCh38]
Chr7:117267789 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1467A>G (p.Ser489=) single nucleotide variant Cystic fibrosis [RCV002393687]|not provided [RCV001812970] Chr7:117559538 [GRCh38]
Chr7:117199592 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.295C>G (p.Pro99Ala) single nucleotide variant CFTR-related disorder [RCV001830079]|Cystic fibrosis [RCV001871664]|not provided [RCV001812286] Chr7:117530920 [GRCh38]
Chr7:117170974 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3220T>C (p.Phe1074Leu) single nucleotide variant Cystic fibrosis [RCV004526104]|not provided [RCV001284616] Chr7:117611661 [GRCh38]
Chr7:117251715 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.164+2T>A single nucleotide variant Cystic fibrosis [RCV000144411] Chr7:117504365 [GRCh38]
Chr7:117144419 [GRCh37]
Chr7:7q31.2
likely pathogenic|not provided
NM_000492.4(CFTR):c.1130dup (p.Gln378fs) duplication Bronchiectasis with or without elevated sweat chloride 1 [RCV004568237]|CFTR-related disorder [RCV001834824]|Cystic fibrosis [RCV000056341] Chr7:117542025..117542026 [GRCh38]
Chr7:117182079..117182080 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3900dup (p.Arg1301Ter) duplication Cystic fibrosis [RCV000190999] Chr7:117652865..117652866 [GRCh38]
Chr7:117292919..117292920 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3(CFTR):c.3891dupT (p.Gly1298Trpfs) duplication Cystic fibrosis [RCV000576523] Chr7:117652859 [GRCh38]
Chr7:117292913 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3:c.4268+2T>G single nucleotide variant Cystic fibrosis [RCV000577694] Chr7:7q31.2 not provided
NM_000492.4(CFTR):c.1117G>A (p.Asp373Asn) single nucleotide variant CFTR-related disorder [RCV001826800]|Cystic fibrosis [RCV000149423]|not specified [RCV003155087] Chr7:117542016 [GRCh38]
Chr7:117182070 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1375_1383del (p.Ser459_Gly461del) deletion Cystic fibrosis [RCV003989489]|not provided [RCV000171532] Chr7:117548801..117548809 [GRCh38]
Chr7:117188855..117188863 [GRCh37]
Chr7:7q31.2
likely pathogenic|no classifications from unflagged records
Single allele duplication Cystic fibrosis [RCV000174685] Chr7:117232273..117232274 [GRCh37] pathogenic
NM_000492.4(CFTR):c.3963+1G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005031654]|Cystic fibrosis [RCV000149421] Chr7:117652932 [GRCh38]
Chr7:117292986 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.2700T>A (p.Asn900Lys) single nucleotide variant Cystic fibrosis [RCV000149422] Chr7:117603574 [GRCh38]
Chr7:117243628 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2443G>T (p.Glu815Ter) single nucleotide variant Cystic fibrosis [RCV000149424] Chr7:117592610 [GRCh38]
Chr7:117232664 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.830G>A (p.Trp277Ter) single nucleotide variant Cystic fibrosis [RCV000149425] Chr7:117536634 [GRCh38]
Chr7:117176688 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000763574]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003473009]|CFTR-related disorder [RCV001831524]|Cystic fibrosis [RCV000007540]|Cystic fibrosis [RCV001004467]|Hereditary pancreatitis [RCV000119040]|ivacaftor response - Efficacy [RCV000211289]|not provided [RCV000301838] Chr7:117587806 [GRCh38]
Chr7:117227860 [GRCh37]
Chr7:7q31.2
pathogenic|drug response|not provided
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005042378]|CFTR-related disorder [RCV004537423]|Cystic fibrosis [RCV000177071]|Hereditary pancreatitis [RCV002256094]|ivacaftor response - Efficacy [RCV000660770]|not provided [RCV000224532]|not specified [RCV000479747] Chr7:117509089 [GRCh38]
Chr7:117149143 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|drug response|uncertain significance
NM_000492.4(CFTR):c.1344_1345delinsTT (p.Glu449Ter) indel Cystic fibrosis [RCV004799829] Chr7:117548775..117548776 [GRCh38]
Chr7:117188829..117188830 [GRCh37]
Chr7:7q31.2
pathogenic
Single allele insertion Cystic fibrosis [RCV000180168] Chr7:117180306..117180307 [GRCh37] pathogenic
NM_000492.4(CFTR):c.848_860delinsTG (p.Lys283fs) indel not provided [RCV000179761] Chr7:117536652..117536664 [GRCh38]
Chr7:117176706..117176718 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.4265G>A (p.Arg1422Gln) single nucleotide variant CFTR-related disorder [RCV001830083]|Cystic fibrosis [RCV003770440]|not provided [RCV001812384] Chr7:117666930 [GRCh38]
Chr7:117306984 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3423T>G (p.Ser1141Arg) single nucleotide variant CFTR-related disorder [RCV001830088]|not provided [RCV001813079] Chr7:117614668 [GRCh38]
Chr7:117254722 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1210-15G>A single nucleotide variant not specified [RCV001290520] Chr7:117548626 [GRCh38]
Chr7:117188680 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4046del (p.Gly1349fs) deletion Cystic fibrosis [RCV001290579] Chr7:117664769 [GRCh38]
Chr7:117304823 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.407T>G (p.Leu136Arg) single nucleotide variant Cystic fibrosis [RCV001331277] Chr7:117531032 [GRCh38]
Chr7:117171086 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1357TTG[1] (p.Leu454del) microsatellite not specified [RCV000173694] Chr7:117548787..117548789 [GRCh38]
Chr7:117188841..117188843 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.4(CFTR):c.1365G>T (p.Ala455=) single nucleotide variant CFTR-related disorder [RCV001161866]|Cystic fibrosis [RCV001480805]|not provided [RCV000173698]|not specified [RCV000781283] Chr7:117548796 [GRCh38]
Chr7:117188850 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala) single nucleotide variant CFTR-related disorder [RCV000265349]|Cystic fibrosis [RCV001589052]|Hereditary pancreatitis [RCV002255311]|not provided [RCV000436508] Chr7:117548743 [GRCh38]
Chr7:117188797 [GRCh37]
Chr7:7q31.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu) single nucleotide variant CFTR-related disorder [RCV004537370]|Cystic fibrosis [RCV000674884]|not provided [RCV000174684]|not specified [RCV002469045] Chr7:117592246 [GRCh38]
Chr7:117232300 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1 copy number loss See cases [RCV000135311] Chr7:114142477..125840381 [GRCh38]
Chr7:113782532..125480435 [GRCh37]
Chr7:113569768..125267671 [NCBI36]
Chr7:7q31.1-31.33
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
NM_000492.4(CFTR):c.2736G>A (p.Ser912=) single nucleotide variant CFTR-related disorder [RCV004539624]|Cystic fibrosis [RCV001409458]|not provided [RCV000175142]|not specified [RCV001290670] Chr7:117603610 [GRCh38]
Chr7:117243664 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3
pathogenic
GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1 copy number loss See cases [RCV000137522] Chr7:102196924..121278641 [GRCh38]
Chr7:101912320..120918695 [GRCh37]
Chr7:101626924..120705931 [NCBI36]
Chr7:7q22.1-31.31
pathogenic
GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1 copy number loss See cases [RCV000138226] Chr7:117326805..134790689 [GRCh38]
Chr7:116966859..134475440 [GRCh37]
Chr7:116754095..134125980 [NCBI36]
Chr7:7q31.2-33
pathogenic
NM_000492.4(CFTR):c.3024C>T (p.Val1008=) single nucleotide variant CFTR-related disorder [RCV001163491]|Cystic fibrosis [RCV001084008]|not provided [RCV000175400] Chr7:117610554 [GRCh38]
Chr7:117250608 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3
pathogenic
GRCh38/hg38 7q31.1-31.31(chr7:114898882-117790123)x1 copy number loss See cases [RCV000142459] Chr7:114898882..117790123 [GRCh38]
Chr7:114538937..117430177 [GRCh37]
Chr7:114326173..117217413 [NCBI36]
Chr7:7q31.1-31.31
pathogenic
NM_000492.3(CFTR):c.1408G= (p.Val470=) single nucleotide variant not specified [RCV000152994] Chr7:117559479 [GRCh38]
Chr7:117199533 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.489+8T>C single nucleotide variant Cystic fibrosis [RCV000669711]|not specified [RCV000155996] Chr7:117531122 [GRCh38]
Chr7:117171176 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity
NM_000492.3(CFTR):c.1210-13_1210-12dupGT duplication not specified [RCV000150333] Chr7:117548628..117548629 [GRCh38]
Chr7:117188682..117188683 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1680-981T>C single nucleotide variant Cystic fibrosis [RCV002516022]|not specified [RCV000150337] Chr7:117589372 [GRCh38]
Chr7:117229426 [GRCh37]
Chr7:7q31.2
likely benign|not provided
NM_000492.4(CFTR):c.1680-871_1680-870delinsGA indel Cystic fibrosis [RCV001491777]|not specified [RCV000156144] Chr7:117589482..117589483 [GRCh38]
Chr7:117229536..117229537 [GRCh37]
Chr7:7q31.2
likely benign|not provided
NM_000492.4(CFTR):c.4129G>A (p.Asp1377Asn) single nucleotide variant CFTR-related disorder [RCV001826848]|Cystic fibrosis [RCV000673141]|not provided [RCV001283970]|not specified [RCV000156193] Chr7:117664853 [GRCh38]
Chr7:117304907 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1210-13G>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002498690]|CFTR-related disorder [RCV000315118]|Cystic fibrosis [RCV001510799]|Inborn genetic diseases [RCV001172258]|not provided [RCV001812119]|not specified [RCV000150332] Chr7:117548628 [GRCh38]
Chr7:117188682 [GRCh37]
Chr7:7q31.2
benign|likely benign
NM_000492.3(CFTR):c.1210-7_1210-6dupTT duplication not specified [RCV000150334] Chr7:117548634..117548635 [GRCh38]
Chr7:117188688..117188689 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.1210-11T>G single nucleotide variant Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001329936]|Cystic fibrosis [RCV000155471]|Cystic fibrosis [RCV000309488]|not provided [RCV000381834] Chr7:117548630 [GRCh38]
Chr7:117188684 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000492.3(CFTR):c.1210-7_1210-6delTT deletion Congenital bilateral absence of the vas deferens [RCV000173693]|Cystic fibrosis [RCV000173692]|not specified [RCV000155619] Chr7:117548634..117548635 [GRCh38]
Chr7:117188688..117188689 [GRCh37]
Chr7:7q31.2
pathogenic|uncertain significance
Single allele duplication not provided [RCV000152995] Chr7:117232273..117232274 [GRCh37] pathogenic
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) single nucleotide variant CFTR-related disorder [RCV001095258]|Cystic fibrosis [RCV000232081]|Hereditary pancreatitis [RCV002257477]|not provided [RCV000586681]|not specified [RCV000215556] Chr7:117611726 [GRCh38]
Chr7:117251780 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.3(CFTR):c.1210-12T[9] duplication Cystic fibrosis [RCV000390508]|Inborn genetic diseases [RCV001172256]|not provided [RCV000515121]|not specified [RCV000150334] Chr7:117548628..117548629 [GRCh38]
Chr7:117188683 [GRCh37]
Chr7:7q31.2
benign|likely benign
NM_000492.3(CFTR):c.1520_1522delTCT (p.Phe508del) deletion Cystic fibrosis [RCV000168284] Chr7:117559591..117559593 [GRCh38]
Chr7:117199645..117199647 [GRCh37]
pathogenic
NM_000492.4(CFTR):c.3368-2A>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003474898]|CFTR-related disorder [RCV001835700]|Cystic fibrosis [RCV000169111]|Cystic fibrosis [RCV001004496]|not specified [RCV000781260] Chr7:117614611 [GRCh38]
Chr7:117254665 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val) single nucleotide variant Cystic fibrosis [RCV000169215]|not provided [RCV001812146] Chr7:117559590 [GRCh38]
Chr7:117199644 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs) duplication Bronchiectasis with or without elevated sweat chloride 1 [RCV002492691]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003474906]|CFTR-related disorder [RCV001826867]|Cystic fibrosis [RCV000169333]|not provided [RCV000224712] Chr7:117548756..117548757 [GRCh38]
Chr7:117188810..117188811 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NC_000007.14:g.117479634A>G single nucleotide variant CFTR-related disorder [RCV004535148]|Cystic fibrosis [RCV000169416]|Hereditary pancreatitis [RCV002257473]|not provided [RCV000593113] Chr7:117479634 [GRCh38]
Chr7:117119688 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.850dup (p.Met284fs) duplication Bronchiectasis with or without elevated sweat chloride 1 [RCV004567369]|CFTR-related disorder [RCV001027912]|Cystic fibrosis [RCV000169503]|not provided [RCV000790771] Chr7:117536648..117536649 [GRCh38]
Chr7:117176702..117176703 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000492.4(CFTR):c.1066_1072delinsA (p.Trp356_Val358delinsIle) indel not provided [RCV000180170] Chr7:117540296..117540302 [GRCh38]
Chr7:117180350..117180356 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002492788]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003474938]|CFTR-related disorder [RCV001165381]|Cystic fibrosis [RCV000525077]|not provided [RCV000590275]|not specified [RCV001731504] Chr7:117540132 [GRCh38]
Chr7:117180186 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3747G>A (p.Gly1249=) single nucleotide variant Cystic fibrosis [RCV001400091]|not provided [RCV000176370] Chr7:117642467 [GRCh38]
Chr7:117282521 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.3815T>A (p.Val1272Glu) single nucleotide variant CFTR-related disorder [RCV001826892]|Cystic fibrosis [RCV001320588]|not provided [RCV000589147] Chr7:117642535 [GRCh38]
Chr7:117282589 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3964-16T>C single nucleotide variant Cystic fibrosis [RCV002056951]|not provided [RCV000176532]|not specified [RCV001797664] Chr7:117664672 [GRCh38]
Chr7:117304726 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.2658-1G>C single nucleotide variant CFTR-related disorder [RCV001833133]|Cystic fibrosis [RCV000190990] Chr7:117603531 [GRCh38]
Chr7:117243585 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3294G>A (p.Trp1098Ter) single nucleotide variant CFTR-related disorder [RCV001828014]|Cystic fibrosis [RCV000191002] Chr7:117611735 [GRCh38]
Chr7:117251789 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3759G>A (p.Leu1253=) single nucleotide variant CFTR-related disorder [RCV001163790]|Cystic fibrosis [RCV000200334]|not specified [RCV000588931] Chr7:117642479 [GRCh38]
Chr7:117282533 [GRCh37]
Chr7:7q31.2
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.3(CFTR):c.(2988+1_2989-1)_(3468+1_3469-1)del deletion Cystic fibrosis [RCV000190993] Chr7:7q31.2 pathogenic
NM_000492.3(CFTR):c.(53+1_54-1)_(164+1_165-1)del deletion Cystic fibrosis [RCV000190994] Chr7:7q31.2 pathogenic
NM_000492.3(CFTR):c.(3963+1_3964-1)_(*1_?)del deletion Cystic fibrosis [RCV000190995] Chr7:7q31.2 pathogenic
NM_000492.3(CFTR):c.(2619+1_2620-1)_(3367+1_3368-1)del deletion Cystic fibrosis [RCV000190996] Chr7:7q31.2 pathogenic
NM_000492.3(CFTR):c.(2988+1_2989-1)_(3367+1_3368-1)del deletion Cystic fibrosis [RCV000190997] Chr7:7q31.2 pathogenic
NM_000492.3(CFTR):c.(743+1_744-1)_(1584+1_1585-1)dup duplication Cystic fibrosis [RCV000190998] Chr7:7q31.2 pathogenic
NM_000492.3(CFTR):c.(2908+1_2909-1)_(3367+1_3368-1)del deletion Cystic fibrosis [RCV000191000] Chr7:7q31.2 pathogenic
NM_000492.3(CFTR):c.(3468+1_3469-1)_(3717+1_3718-1)del deletion Cystic fibrosis [RCV000191003] Chr7:7q31.2 pathogenic
NM_000492.3(CFTR):c.(?_1)_(53+1_54-1)del deletion Cystic fibrosis [RCV000191005] Chr7:7q31.2 pathogenic
NM_000492.3(CFTR):c.2462_2463delGT (p.Ser821Argfs) deletion Cystic fibrosis [RCV000190989] Chr7:117592629..117592630 [GRCh38]
Chr7:117232683..117232684 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2423_2424dup (p.Ser809fs) microsatellite Cystic fibrosis [RCV000190991] Chr7:117592583..117592584 [GRCh38]
Chr7:117232637..117232638 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3(CFTR):c.3899dupT (p.Arg1301Terfs) duplication Cystic fibrosis [RCV000190999] Chr7:117652867 [GRCh38]
Chr7:117292921 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3747del (p.Lys1250fs) deletion CFTR-related disorder [RCV001833134]|Cystic fibrosis [RCV000191001]|Hereditary pancreatitis [RCV002247617] Chr7:117642465 [GRCh38]
Chr7:117282519 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1117-1G>A single nucleotide variant CFTR-related disorder [RCV001828015]|Cystic fibrosis [RCV000191004]|not specified [RCV000780165] Chr7:117542015 [GRCh38]
Chr7:117182069 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1365_1366del (p.Val456fs) deletion Cystic fibrosis [RCV000191006] Chr7:117548796..117548797 [GRCh38]
Chr7:117188850..117188851 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3(CFTR):c.2053_2054insC (p.Gln685Profs) duplication Cystic fibrosis [RCV000191011] Chr7:117592220 [GRCh38]
Chr7:117232274 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3(CFTR):c.(273+1_274-1)_(1116+1_1117-1)del deletion Cystic fibrosis [RCV000191007] Chr7:7q31.2 pathogenic
NM_000492.3(CFTR):c.(273+1_274-1)_(1116+1_1117-1)del(1584+1_1585-1)_(3468+1_3469-1)del deletion Cystic fibrosis [RCV000191008] Chr7:7q31.2 pathogenic
NM_000492.3(CFTR):c.(1584+1_1585-1)_(1679+1_1680-1)del deletion Cystic fibrosis [RCV000191009] Chr7:7q31.2 pathogenic
NM_000492.3(CFTR):c.(53+1_54-1)_(489+1_490-1)del deletion Cystic fibrosis [RCV000191010] Chr7:7q31.2 pathogenic
NM_000492.3(CFTR):c.(1766+1_1767-1)_(2619+1_2620-1)del deletion Cystic fibrosis [RCV000191012] Chr7:7q31.2 pathogenic
NM_000492.4(CFTR):c.1679+1G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003475911]|CFTR-related disorder [RCV001833367]|Cystic fibrosis [RCV000384098]|not provided [RCV000292060] Chr7:117587834 [GRCh38]
Chr7:117227888 [GRCh37]
Chr7:7q31.2
pathogenic
GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1 copy number loss See cases [RCV000240177] Chr7:111613396..127897316 [GRCh37]
Chr7:7q31.1-32.1
pathogenic
NM_000492.4(CFTR):c.1234_1238del (p.Ala412fs) deletion Cystic fibrosis [RCV001824720]|Hereditary pancreatitis [RCV001195832]|not provided [RCV000371586]|not specified [RCV002248507] Chr7:117548662..117548666 [GRCh38]
Chr7:117188716..117188720 [GRCh37]
Chr7:7q31.2
pathogenic|uncertain significance|not provided
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003468932]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005031775]|CFTR-related disorder [RCV001160121]|Cystic fibrosis [RCV000206091]|Hereditary pancreatitis [RCV001762431]|Infertility disorder [RCV001327945]|not provided [RCV000587447]|not specified [RCV000664323] Chr7:117603774 [GRCh38]
Chr7:117243828 [GRCh37]
Chr7:7q31.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.3180A>G (p.Lys1060=) single nucleotide variant Cystic fibrosis [RCV001469223]|not specified [RCV000217110] Chr7:117611621 [GRCh38]
Chr7:117251675 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity
NM_000492.4(CFTR):c.1680-871A>G single nucleotide variant CFTR-related disorder [RCV004530290]|not provided [RCV000759030]|not specified [RCV000215441] Chr7:117589482 [GRCh38]
Chr7:117229536 [GRCh37]
Chr7:7q31.2
benign|likely benign
NM_000492.4(CFTR):c.3410T>C (p.Met1137Thr) single nucleotide variant Cystic fibrosis [RCV000669933] Chr7:117614655 [GRCh38]
Chr7:117254709 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.164+2dup duplication Cystic fibrosis [RCV000669153]|not specified [RCV004526002] Chr7:117504364..117504365 [GRCh38]
Chr7:117144418..117144419 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.-602A>T single nucleotide variant CFTR-related disorder [RCV001830441]|Cystic fibrosis [RCV000669339] Chr7:117479493 [GRCh38]
Chr7:117119547 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.92G>A (p.Arg31His) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002477501]|CFTR-related disorder [RCV001830447]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001580534]|Cystic fibrosis [RCV000670527]|not specified [RCV001731874] Chr7:117504291 [GRCh38]
Chr7:117144345 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4329del (p.Ser1444fs) deletion Cystic fibrosis [RCV000669479] Chr7:117666991 [GRCh38]
Chr7:117307045 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1117-2A>G single nucleotide variant Cystic fibrosis [RCV000669585] Chr7:117542014 [GRCh38]
Chr7:117182068 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1210-34TG[12] microsatellite Bronchiectasis with or without elevated sweat chloride 1 [RCV002500720]|Cystic fibrosis [RCV001009360]|not provided [RCV000837302]|not specified [RCV000156213] Chr7:117548606..117548607 [GRCh38]
Chr7:117188660..117188661 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.2252G>T (p.Arg751Leu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003475048]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001589163]|Cystic fibrosis [RCV000675114]|not provided [RCV000224113]|not specified [RCV001002669] Chr7:117592419 [GRCh38]
Chr7:117232473 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance
Single allele insertion not provided [RCV000224712] Chr7:117188810..117188811 [GRCh37] pathogenic
NM_000492.4(CFTR):c.274-6T>C single nucleotide variant CFTR-related disorder [RCV001161754]|Cystic fibrosis [RCV000231663]|Hereditary pancreatitis [RCV002257533]|not provided [RCV000590190]|not specified [RCV000248062] Chr7:117530893 [GRCh38]
Chr7:117170947 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.589T>C (p.Leu197=) single nucleotide variant CFTR-related disorder [RCV001828106]|Cystic fibrosis [RCV000229572] Chr7:117535257 [GRCh38]
Chr7:117175311 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3718-2530A>G single nucleotide variant CFTR-related disorder [RCV001833243]|Cystic fibrosis [RCV000229747]|Hereditary pancreatitis [RCV002257534]|not provided [RCV003736654]|not specified [RCV000593269] Chr7:117639908 [GRCh38]
Chr7:117279962 [GRCh37]
Chr7:7q31.2
benign|likely benign
Single allele insertion not provided [RCV000224967] Chr7:117232266..117232267 [GRCh37] pathogenic
NM_000492.4(CFTR):c.4243-7del deletion CFTR-related disorder [RCV001009482]|Cystic fibrosis [RCV000227990]|not provided [RCV001508590]|not specified [RCV000506184] Chr7:117666899 [GRCh38]
Chr7:117306953 [GRCh37]
Chr7:7q31.2
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1393-42G>A single nucleotide variant CFTR-related disorder [RCV001828105]|Cystic fibrosis [RCV000227348]|Hereditary pancreatitis [RCV002256135]|not provided [RCV000759752]|not specified [RCV000248312] Chr7:117559422 [GRCh38]
Chr7:117199476 [GRCh37]
Chr7:7q31.2
benign|likely benign
NM_000492.4(CFTR):c.164+28A>G single nucleotide variant Cystic fibrosis [RCV000234560]|Hereditary pancreatitis [RCV002256128]|not provided [RCV000224870]|not specified [RCV000594558] Chr7:117504391 [GRCh38]
Chr7:117144445 [GRCh37]
Chr7:7q31.2
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000007.14:g.117479807G>C single nucleotide variant Cystic fibrosis [RCV000234784]|Hereditary pancreatitis [RCV002256134]|not provided [RCV002478837]|not specified [RCV000594464] Chr7:117479807 [GRCh38]
Chr7:117119861 [GRCh37]
Chr7:7q31.2
benign|likely benign|uncertain significance
NM_000492.4(CFTR):c.744-6T>G single nucleotide variant Cystic fibrosis [RCV000233566] Chr7:117536542 [GRCh38]
Chr7:117176596 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.960A>C (p.Leu320Phe) single nucleotide variant CFTR-related disorder [RCV001830655]|Cystic fibrosis [RCV002533802]|not provided [RCV000757077] Chr7:117540190 [GRCh38]
Chr7:117180244 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4423G>T (p.Val1475Leu) single nucleotide variant Cystic fibrosis [RCV001275209]|not specified [RCV000757079] Chr7:117667088 [GRCh38]
Chr7:117307142 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2433G>T (p.Arg811Ser) single nucleotide variant CFTR-related disorder [RCV001830656]|Cystic fibrosis [RCV001785718]|not provided [RCV000757081]|not specified [RCV000780167] Chr7:117592600 [GRCh38]
Chr7:117232654 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1913C>T (p.Pro638Leu) single nucleotide variant CFTR-related disorder [RCV001830657]|not provided [RCV000757082] Chr7:117592080 [GRCh38]
Chr7:117232134 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2262G>C (p.Val754=) single nucleotide variant Cystic fibrosis [RCV001275238]|not provided [RCV000757085] Chr7:117592429 [GRCh38]
Chr7:117232483 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3573G>A (p.Met1191Ile) single nucleotide variant CFTR-related disorder [RCV001825495]|Cystic fibrosis [RCV002458358]|not provided [RCV000757089] Chr7:117627626 [GRCh38]
Chr7:117267680 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1700A>C (p.Asp567Ala) single nucleotide variant Cystic fibrosis [RCV002406676]|not provided [RCV000755915] Chr7:117590373 [GRCh38]
Chr7:117230427 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance
NM_000492.4(CFTR):c.-16C>T single nucleotide variant not provided [RCV000755916] Chr7:117480079 [GRCh38]
Chr7:117120133 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2491-2A>C single nucleotide variant Cystic fibrosis [RCV000669781] Chr7:117594928 [GRCh38]
Chr7:117234982 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.2629T>G (p.Ser877Ala) single nucleotide variant CFTR-related disorder [RCV001829533]|Cystic fibrosis [RCV000545926]|not specified [RCV001194373] Chr7:117602835 [GRCh38]
Chr7:117242889 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.579+34A>G single nucleotide variant Cystic fibrosis [RCV000669177] Chr7:117534399 [GRCh38]
Chr7:117174453 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1767-1G>A single nucleotide variant Cystic fibrosis [RCV000669783] Chr7:117591933 [GRCh38]
Chr7:117231987 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.3(CFTR):c.1210-7_1210-6delTT deletion Hereditary pancreatitis [RCV000348683] Chr7:117548634..117548635 [GRCh38]
Chr7:117188688..117188689 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3(CFTR):c.744-?_1584+?dup duplication Cystic fibrosis [RCV000240531]   pathogenic
NM_000492.4(CFTR):c.1655A>C (p.Gln552Pro) single nucleotide variant Cystic fibrosis [RCV001804239]|not specified [RCV004690136] Chr7:117587809 [GRCh38]
Chr7:117227863 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance
NM_000492.4(CFTR):c.2619+2973A>G single nucleotide variant Cystic fibrosis [RCV001804240] Chr7:117598031 [GRCh38]
Chr7:117238085 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005031832]|CFTR-related disorder [RCV001009501]|Cystic fibrosis [RCV000462037]|Obstructive azoospermia [RCV001640482]|not provided [RCV000726998]|not specified [RCV000248703] Chr7:117627538 [GRCh38]
Chr7:117267592 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.3842A>G (p.Gln1281Arg) single nucleotide variant Cystic fibrosis [RCV000530649] Chr7:117642562 [GRCh38]
Chr7:117282616 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.927C>G (p.Ala309=) single nucleotide variant CFTR-related disorder [RCV001833267]|Cystic fibrosis [RCV000548162]|not provided [RCV004706689]|not specified [RCV000243918] Chr7:117540157 [GRCh38]
Chr7:117180211 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.927C>T (p.Ala309=) single nucleotide variant Cystic fibrosis [RCV000630466]|not provided [RCV004999185]|not specified [RCV000248896] Chr7:117540157 [GRCh38]
Chr7:117180211 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.743+40A>G single nucleotide variant Cystic fibrosis [RCV001009352]|not provided [RCV001651129]|not specified [RCV000246696] Chr7:117535451 [GRCh38]
Chr7:117175505 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.1545T>C (p.Tyr515=) single nucleotide variant CFTR-related disorder [RCV001828135]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001589231]|Cystic fibrosis [RCV001299089]|not specified [RCV000242196] Chr7:117559616 [GRCh38]
Chr7:117199670 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.2604A>G (p.Val868=) single nucleotide variant CFTR-related disorder [RCV001834715]|Cystic fibrosis [RCV001007591]|not provided [RCV000552909]|not specified [RCV000781248] Chr7:117595043 [GRCh38]
Chr7:117235097 [GRCh37]
Chr7:7q31.2
benign|likely benign
NM_000492.4(CFTR):c.1920T>C (p.Phe640=) single nucleotide variant CFTR-related disorder [RCV001835741]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001589232]|Cystic fibrosis [RCV001087241]|not provided [RCV000725286]|not specified [RCV000242518] Chr7:117592087 [GRCh38]
Chr7:117232141 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.2245C>T (p.Leu749=) single nucleotide variant CFTR-related disorder [RCV001163688]|Cystic fibrosis [RCV001085588]|Hereditary pancreatitis [RCV002255346]|Obstructive azoospermia [RCV001640481]|not provided [RCV000586139]|not specified [RCV000247513] Chr7:117592412 [GRCh38]
Chr7:117232466 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.4243-5C>T single nucleotide variant Cystic fibrosis [RCV001083251]|Hereditary pancreatitis [RCV002257614]|not provided [RCV000477057]|not specified [RCV000242905] Chr7:117666903 [GRCh38]
Chr7:117306957 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000492.4(CFTR):c.2424T>C (p.Tyr808=) single nucleotide variant CFTR-related disorder [RCV001833266]|Cystic fibrosis [RCV001483222]|not specified [RCV000247823] Chr7:117592591 [GRCh38]
Chr7:117232645 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3807C>T (p.Ile1269=) single nucleotide variant Cystic fibrosis [RCV002057365]|not specified [RCV000250638] Chr7:117642527 [GRCh38]
Chr7:117282581 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity
NM_000492.4(CFTR):c.*684A>G single nucleotide variant CFTR-related disorder [RCV000268905]|Cystic fibrosis [RCV003328526] Chr7:117667792 [GRCh38]
Chr7:117307846 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.*303G>C single nucleotide variant CFTR-related disorder [RCV000272509] Chr7:117667411 [GRCh38]
Chr7:117307465 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.332C>G (p.Pro111Arg) single nucleotide variant not provided [RCV000271093] Chr7:117530957 [GRCh38]
Chr7:117171011 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3382A>G (p.Arg1128Gly) single nucleotide variant Cystic fibrosis [RCV002518103]|not provided [RCV000301584]|not specified [RCV003114457] Chr7:117614627 [GRCh38]
Chr7:117254681 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp) single nucleotide variant CFTR-related disorder [RCV004543136]|Cystic fibrosis [RCV000757859]|not provided [RCV000373122] Chr7:117559570 [GRCh38]
Chr7:117199624 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.*1249T>C single nucleotide variant CFTR-related disorder [RCV000280225] Chr7:117668357 [GRCh38]
Chr7:117308411 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2559T>C (p.Ile853=) single nucleotide variant Cystic fibrosis [RCV000281657]|Hereditary pancreatitis [RCV002257658]|not provided [RCV000593086]|not specified [RCV000781229] Chr7:117594998 [GRCh38]
Chr7:117235052 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.*881C>T single nucleotide variant CFTR-related disorder [RCV000293347] Chr7:117667989 [GRCh38]
Chr7:117308043 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2973A>G (p.Ile991Met) single nucleotide variant CFTR-related disorder [RCV001095180]|Cystic fibrosis [RCV000294886]|not provided [RCV004791429]|not specified [RCV003114513] Chr7:117606738 [GRCh38]
Chr7:117246792 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3139G>T (p.Gly1047Cys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002487210]|Cystic fibrosis [RCV000757868]|not provided [RCV000307800] Chr7:117610669 [GRCh38]
Chr7:117250723 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1210-32T>G single nucleotide variant not provided [RCV000341185] Chr7:117548609 [GRCh38]
Chr7:117188663 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002487246]|Cystic fibrosis [RCV001273210]|not provided [RCV000378943]|not specified [RCV001175035] Chr7:117592209 [GRCh38]
Chr7:117232263 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=) single nucleotide variant CFTR-related disorder [RCV001095183]|Cystic fibrosis [RCV000305714]|not provided [RCV000374600]|not specified [RCV000780148] Chr7:117666961 [GRCh38]
Chr7:117307015 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.*133del deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV002488796]|Cystic fibrosis [RCV000303090]|not provided [RCV001683426] Chr7:117667233 [GRCh38]
Chr7:117307287 [GRCh37]
Chr7:7q31.2
benign|likely benign
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003475910]|CFTR-related disorder [RCV004535369]|Cystic fibrosis [RCV000668621]|Cystic fibrosis [RCV001004492]|not provided [RCV000586297] Chr7:117611738 [GRCh38]
Chr7:117251792 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.*325A>G single nucleotide variant CFTR-related disorder [RCV000327482]|not provided [RCV004712334] Chr7:117667433 [GRCh38]
Chr7:117307487 [GRCh37]
Chr7:7q31.2
benign|likely benign
NM_000492.4(CFTR):c.2490+5G>T single nucleotide variant Cystic fibrosis [RCV001785547]|not provided [RCV000280515]|not specified [RCV003401262] Chr7:117592662 [GRCh38]
Chr7:117232716 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4387C>T (p.Gln1463Ter) single nucleotide variant not provided [RCV000312610] Chr7:117667052 [GRCh38]
Chr7:117307106 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2193T>C (p.Pro731=) single nucleotide variant not provided [RCV000347130] Chr7:117592360 [GRCh38]
Chr7:117232414 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.*1251C>T single nucleotide variant CFTR-related disorder [RCV000335249]|not provided [RCV004712335] Chr7:117668359 [GRCh38]
Chr7:117308413 [GRCh37]
Chr7:7q31.2
benign|likely benign
NM_000492.4(CFTR):c.3999del (p.Lys1334fs) deletion Cystic fibrosis [RCV000757843]|not provided [RCV000338955] Chr7:117664721 [GRCh38]
Chr7:117304775 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1227T>C (p.Phe409=) single nucleotide variant CFTR-related disorder [RCV001828184]|Cystic fibrosis [RCV001396160]|not provided [RCV000388212] Chr7:117548658 [GRCh38]
Chr7:117188712 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.*144C>T single nucleotide variant CFTR-related disorder [RCV000357846]|not provided [RCV004695990] Chr7:117667252 [GRCh38]
Chr7:117307306 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4197C>G (p.Leu1399=) single nucleotide variant CFTR-related disorder [RCV004537605]|Cystic fibrosis [RCV001088231]|not provided [RCV000587227]|not specified [RCV000855618] Chr7:117665519 [GRCh38]
Chr7:117305573 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1430C>A (p.Pro477His) single nucleotide variant Cystic fibrosis [RCV000805320]|not provided [RCV000390245] Chr7:117559501 [GRCh38]
Chr7:117199555 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1454G>C (p.Ser485Thr) single nucleotide variant CFTR-related disorder [RCV001095217]|Cystic fibrosis [RCV000361103]|not provided [RCV000592449]|not specified [RCV001001194] Chr7:117559525 [GRCh38]
Chr7:117199579 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2659A>C (p.Thr887Pro) single nucleotide variant CFTR-related disorder [RCV001828251]|Cystic fibrosis [RCV001055355]|not provided [RCV000322135] Chr7:117603533 [GRCh38]
Chr7:117243587 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1210-13_1210-10del deletion Cystic fibrosis [RCV001516152]|not provided [RCV000393959] Chr7:117548627..117548630 [GRCh38]
Chr7:117188682..117188685 [GRCh37]
Chr7:7q31.2
pathogenic|benign|uncertain significance
NM_000492.4(CFTR):c.*1043A>C single nucleotide variant CFTR-related disorder [RCV001095149]|Cystic fibrosis [RCV000375001]|Hereditary pancreatitis [RCV002258884]|not provided [RCV002292541]|not specified [RCV000596703] Chr7:117668151 [GRCh38]
Chr7:117308205 [GRCh37]
Chr7:7q31.2
benign|likely benign
NM_000492.4(CFTR):c.960A>G (p.Leu320=) single nucleotide variant Cystic fibrosis [RCV001589320]|not provided [RCV000323678] Chr7:117540190 [GRCh38]
Chr7:117180244 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.*442C>T single nucleotide variant CFTR-related disorder [RCV000382097] Chr7:117667550 [GRCh38]
Chr7:117307604 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3468+6T>A single nucleotide variant CFTR-related disorder [RCV000380999] Chr7:117614719 [GRCh38]
Chr7:117254773 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.226T>A (p.Cys76Ser) single nucleotide variant Cystic fibrosis [RCV003298350]|not provided [RCV000362181] Chr7:117509095 [GRCh38]
Chr7:117149149 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002480028]|Cystic fibrosis [RCV000462099]|not provided [RCV000590109]|not specified [RCV000397807] Chr7:117548701 [GRCh38]
Chr7:117188755 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4322T>C (p.Ile1441Thr) single nucleotide variant CFTR-related disorder [RCV001833312]|Cystic fibrosis [RCV001241082]|not provided [RCV000399110] Chr7:117666987 [GRCh38]
Chr7:117307041 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.*1294G>A single nucleotide variant CFTR-related disorder [RCV000394949] Chr7:117668402 [GRCh38]
Chr7:117308456 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.1436A>C (p.Glu479Ala) single nucleotide variant not provided [RCV000295983] Chr7:117559507 [GRCh38]
Chr7:117199561 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1164G>A (p.Thr388=) single nucleotide variant Cystic fibrosis [RCV001452905]|not provided [RCV000327507] Chr7:117542063 [GRCh38]
Chr7:117182117 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.948T>G (p.Phe316Leu) single nucleotide variant CFTR-related disorder [RCV001828182]|Cystic fibrosis [RCV001242008]|not provided [RCV000266688]|not specified [RCV003317178] Chr7:117540178 [GRCh38]
Chr7:117180232 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.663G>A (p.Ala221=) single nucleotide variant CFTR-related disorder [RCV001828279]|Cystic fibrosis [RCV001085150]|not provided [RCV000333748]|not specified [RCV002282112] Chr7:117535331 [GRCh38]
Chr7:117175385 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.*124_*125insC insertion Cystic fibrosis [RCV000266699] Chr7:117667232..117667233 [GRCh38]
Chr7:117307286..117307287 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4243-576A>G single nucleotide variant Cystic fibrosis [RCV002282745] Chr7:117666332 [GRCh38]
Chr7:117306386 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3468+3566G>A single nucleotide variant Cystic fibrosis [RCV002282790] Chr7:117618279 [GRCh38]
Chr7:117258333 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.226T>C (p.Cys76Arg) single nucleotide variant not specified [RCV002282829] Chr7:117509095 [GRCh38]
Chr7:117149149 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4121C>G (p.Ala1374Gly) single nucleotide variant Cystic fibrosis [RCV001853993]|not provided [RCV000597097]|not specified [RCV003117358] Chr7:117664845 [GRCh38]
Chr7:117304899 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.-939A>G single nucleotide variant Cystic fibrosis [RCV001278574] Chr7:117479156 [GRCh38]
Chr7:117119210 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2882T>C (p.Met961Thr) single nucleotide variant Cystic fibrosis [RCV001854078]|not provided [RCV000597750] Chr7:117603756 [GRCh38]
Chr7:117243810 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.5A>C (p.Gln2Pro) single nucleotide variant CFTR-related disorder [RCV001830073]|Cystic fibrosis [RCV002284478]|not specified [RCV001269232] Chr7:117480099 [GRCh38]
Chr7:117120153 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.769G>T (p.Glu257Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003475323]|Cystic fibrosis [RCV002281605]|Cystic fibrosis [RCV002400413] Chr7:117536573 [GRCh38]
Chr7:117176627 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003471939]|Cystic fibrosis [RCV001003496]|Cystic fibrosis [RCV001004450]|not provided [RCV000586527] Chr7:117559465 [GRCh38]
Chr7:117199519 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1973del (p.Arg658fs) deletion Cystic fibrosis [RCV002281856] Chr7:117592140 [GRCh38]
Chr7:117232194 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.360G>A (p.Ala120=) single nucleotide variant CFTR-related disorder [RCV001163271]|Cystic fibrosis [RCV001086348]|not provided [RCV000585052]|not specified [RCV000855619] Chr7:117530985 [GRCh38]
Chr7:117171039 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.3628A>T (p.Met1210Leu) single nucleotide variant Cystic fibrosis [RCV003311473]|not specified [RCV004690399] Chr7:117627681 [GRCh38]
Chr7:117267735 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2556T>C (p.Tyr852=) single nucleotide variant Cystic fibrosis [RCV003311480] Chr7:117594995 [GRCh38]
Chr7:117235049 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3063A>G (p.Pro1021=) single nucleotide variant Cystic fibrosis [RCV003311487] Chr7:117610593 [GRCh38]
Chr7:117250647 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3837G>T (p.Leu1279Phe) single nucleotide variant Cystic fibrosis [RCV003311498] Chr7:117642557 [GRCh38]
Chr7:117282611 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4197C>T (p.Leu1399=) single nucleotide variant Cystic fibrosis [RCV001421106]|not provided [RCV000594993] Chr7:117665519 [GRCh38]
Chr7:117305573 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.1928A>G (p.Lys643Arg) single nucleotide variant CFTR-related disorder [RCV001834592]|not provided [RCV000489820] Chr7:117592095 [GRCh38]
Chr7:117232149 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3874-21_3874-15dup duplication not provided [RCV000596003] Chr7:117652820..117652821 [GRCh38]
Chr7:117292874..117292875 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.250T>C (p.Tyr84His) single nucleotide variant CFTR-related disorder [RCV004530674]|Cystic fibrosis [RCV001785674]|not provided [RCV000596402]|not specified [RCV001824838] Chr7:117509119 [GRCh38]
Chr7:117149173 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2919_2920insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT insertion Cystic fibrosis [RCV002284243] Chr7:117606666..117606667 [GRCh38]
Chr7:117246720..117246721 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1278C>T (p.Asp426=) single nucleotide variant Cystic fibrosis [RCV001278578]|not specified [RCV001824944] Chr7:117548709 [GRCh38]
Chr7:117188763 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.870-2A>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003471943]|CFTR-related disorder [RCV004530643]|Cystic fibrosis [RCV000587438]|not provided [RCV003159994] Chr7:117540098 [GRCh38]
Chr7:117180152 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.4100T>C (p.Leu1367Ser) single nucleotide variant Cystic fibrosis [RCV004317145] Chr7:117664824 [GRCh38]
Chr7:117304878 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3969G>A (p.Gly1323=) single nucleotide variant CFTR-related disorder [RCV000399274]|Cystic fibrosis [RCV001442066]|not specified [RCV002509373] Chr7:117664693 [GRCh38]
Chr7:117304747 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.811del (p.Ser271fs) deletion Cystic fibrosis [RCV000586650] Chr7:117536615 [GRCh38]
Chr7:117176669 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.107A>C (p.Asp36Ala) single nucleotide variant Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV003314293] Chr7:117504306 [GRCh38]
Chr7:117144360 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3070G>A (p.Val1024Met) single nucleotide variant Cystic fibrosis [RCV003311499] Chr7:117610600 [GRCh38]
Chr7:117250654 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.*1545C>T single nucleotide variant CFTR-related disorder [RCV000304843] Chr7:117668653 [GRCh38]
Chr7:117308707 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.*1031A>G single nucleotide variant CFTR-related disorder [RCV000348333] Chr7:117668139 [GRCh38]
Chr7:117308193 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.*842del deletion Cystic fibrosis [RCV000333320]|Hereditary pancreatitis [RCV000387656] Chr7:117667947 [GRCh38]
Chr7:117308001 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1307T>C (p.Leu436Pro) single nucleotide variant Cystic fibrosis [RCV004822118]|not specified [RCV000586243] Chr7:117548738 [GRCh38]
Chr7:117188792 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2327C>T (p.Ser776Leu) single nucleotide variant CFTR-related disorder [RCV001835858]|Cystic fibrosis [RCV001363162]|not provided [RCV000586306] Chr7:117592494 [GRCh38]
Chr7:117232548 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2878C>T (p.Pro960Ser) single nucleotide variant CFTR-related disorder [RCV001834843]|Cystic fibrosis [RCV001867907]|not provided [RCV000586370] Chr7:117603752 [GRCh38]
Chr7:117243806 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1767-2A>G single nucleotide variant Cystic fibrosis [RCV002284525] Chr7:117591932 [GRCh38]
Chr7:117231986 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.49_50del (p.Phe17fs) deletion Cystic fibrosis [RCV002284578] Chr7:117480138..117480139 [GRCh38]
Chr7:117120192..117120193 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.4184G>T (p.Cys1395Phe) single nucleotide variant Cystic fibrosis [RCV001272368]|not provided [RCV000587172] Chr7:117665506 [GRCh38]
Chr7:117305560 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1680-877G>A single nucleotide variant Cystic fibrosis [RCV003617846]|not provided [RCV000587194] Chr7:117589476 [GRCh38]
Chr7:117229530 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.1495C>T (p.Pro499Ser) single nucleotide variant CFTR-related disorder [RCV004527669]|Cystic fibrosis [RCV001206975]|not provided [RCV000587359] Chr7:117559566 [GRCh38]
Chr7:117199620 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1187A>C (p.Asn396Thr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000765925]|CFTR-related disorder [RCV001829619]|Cystic fibrosis [RCV001785670]|not provided [RCV000587466] Chr7:117542086 [GRCh38]
Chr7:117182140 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1519A>T (p.Ile507Phe) single nucleotide variant Cystic fibrosis [RCV000630461] Chr7:117559590 [GRCh38]
Chr7:117199644 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1504A>G (p.Ile502Val) single nucleotide variant CFTR-related disorder [RCV001834988]|Cystic fibrosis [RCV000630462]|not provided [RCV003736863] Chr7:117559575 [GRCh38]
Chr7:117199629 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4377G>A (p.Lys1459=) single nucleotide variant Cystic fibrosis [RCV000630465] Chr7:117667042 [GRCh38]
Chr7:117307096 [GRCh37]
Chr7:7q31.2
likely benign
NC_000007.14:g.(?_117504233)_(117509162_?)del deletion Cystic fibrosis [RCV004583441] Chr7:117504233..117509162 [GRCh38]
Chr7:117144287..117149216 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.4332C>T (p.Ser1444=) single nucleotide variant Cystic fibrosis [RCV001445668]|not provided [RCV000592174] Chr7:117666997 [GRCh38]
Chr7:117307051 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.1479G>C (p.Gln493His) single nucleotide variant not provided [RCV000591901] Chr7:117559550 [GRCh38]
Chr7:117199604 [GRCh37]
Chr7:7q31.2
uncertain significance
Single allele single nucleotide variant not provided [RCV000592422] Chr7:117120017 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1534T>A (p.Tyr512Asn) single nucleotide variant not provided [RCV000730450]|not specified [RCV004702377] Chr7:117559605 [GRCh38]
Chr7:117199659 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4036C>T (p.Leu1346=) single nucleotide variant not provided [RCV000730453] Chr7:117664760 [GRCh38]
Chr7:117304814 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2561_2562delinsTG (p.Thr854Met) indel not provided [RCV000596176] Chr7:117595000..117595001 [GRCh38]
Chr7:117235054..117235055 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3874-103del deletion not provided [RCV000587619] Chr7:117652736 [GRCh38]
Chr7:117292790 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3139+39del deletion not provided [RCV000587706] Chr7:117610708 [GRCh38]
Chr7:117250762 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.950T>C (p.Val317Ala) single nucleotide variant CFTR-related disorder [RCV001834853]|Cystic fibrosis [RCV004609443]|not specified [RCV003994032] Chr7:117540180 [GRCh38]
Chr7:117180234 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1763A>G (p.Glu588Gly) single nucleotide variant CFTR-related disorder [RCV001834912]|Cystic fibrosis [RCV001358943]|not provided [RCV000591950] Chr7:117590436 [GRCh38]
Chr7:117230490 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1210-15G>T single nucleotide variant Cystic fibrosis [RCV003507301]|not provided [RCV000592499] Chr7:117548626 [GRCh38]
Chr7:117188680 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.4027G>A (p.Gly1343Ser) single nucleotide variant CFTR-related disorder [RCV001834846]|Cystic fibrosis [RCV000698058]|not provided [RCV000587884] Chr7:117664751 [GRCh38]
Chr7:117304805 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004568305]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005044871]|CFTR-related disorder [RCV001829620]|Cystic fibrosis [RCV000586160] Chr7:117548650 [GRCh38]
Chr7:117188704 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3874-2A>G single nucleotide variant Cystic fibrosis [RCV000589248] Chr7:117652840 [GRCh38]
Chr7:117292894 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.662C>T (p.Ala221Val) single nucleotide variant CFTR-related disorder [RCV001834852]|Cystic fibrosis [RCV001860128]|not provided [RCV000588100] Chr7:117535330 [GRCh38]
Chr7:117175384 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2406G>C (p.Leu802Phe) single nucleotide variant CFTR-related disorder [RCV001834842]|Cystic fibrosis [RCV001853982]|not provided [RCV000588117] Chr7:117592573 [GRCh38]
Chr7:117232627 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.3(CFTR):c.(273+1_274-1)_(1679+1_1680-1)del deletion Cystic fibrosis [RCV000576427]   pathogenic
NM_000492.4(CFTR):c.3468+5G>A single nucleotide variant Cystic fibrosis [RCV000576693] Chr7:117614718 [GRCh38]
Chr7:117254772 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3(CFTR):c.(164+1_165-1)_(1584_+1_1585-1)del(2619+1_2620-1)_(2988+1_2989-1)del deletion Cystic fibrosis [RCV000576740]   pathogenic
NM_000492.4(CFTR):c.3108C>G (p.Thr1036=) single nucleotide variant not specified [RCV000587599] Chr7:117610638 [GRCh38]
Chr7:117250692 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.4273G>A (p.Asp1425Asn) single nucleotide variant CFTR-related disorder [RCV001834851]|Cystic fibrosis [RCV005091540]|not provided [RCV000588222] Chr7:117666938 [GRCh38]
Chr7:117306992 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1210-6del deletion Cystic fibrosis [RCV001785671]|not provided [RCV000588295]|not specified [RCV001174595] Chr7:117548629 [GRCh38]
Chr7:117188683 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.869+14A>G single nucleotide variant Cystic fibrosis [RCV002377214]|not specified [RCV000588394] Chr7:117536687 [GRCh38]
Chr7:117176741 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2988+1186_2988+1194del deletion not specified [RCV000588478] Chr7:117607938..117607946 [GRCh38]
Chr7:117247992..117248000 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.3368-20C>T single nucleotide variant Cystic fibrosis [RCV001785672]|not provided [RCV000985691]|not specified [RCV000588513] Chr7:117614593 [GRCh38]
Chr7:117254647 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.3672T>A (p.Asn1224Lys) single nucleotide variant CFTR-related disorder [RCV001829624]|Cystic fibrosis [RCV001785673]|not provided [RCV000588038]|not specified [RCV000855591] Chr7:117627725 [GRCh38]
Chr7:117267779 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.2938A>G (p.Ile980Val) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002497233]|CFTR-related disorder [RCV001834844]|Cystic fibrosis [RCV004609442]|not provided [RCV000588175] Chr7:117606703 [GRCh38]
Chr7:117246757 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002476275]|CFTR-related disorder [RCV001829623]|Cystic fibrosis [RCV000779527]|not provided [RCV000588214]|not specified [RCV001293419] Chr7:117611715 [GRCh38]
Chr7:117251769 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.316A>G (p.Ile106Val) single nucleotide variant CFTR-related disorder [RCV004543326]|Cystic fibrosis [RCV001559231]|not provided [RCV000597628] Chr7:117530941 [GRCh38]
Chr7:117170995 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4061T>C (p.Met1354Thr) single nucleotide variant CFTR-related disorder [RCV001834848]|Cystic fibrosis [RCV001050004]|not provided [RCV000588556] Chr7:117664785 [GRCh38]
Chr7:117304839 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr) single nucleotide variant CFTR-related disorder [RCV001009486]|Cystic fibrosis [RCV000630457]|not provided [RCV001726278]|not specified [RCV003230560] Chr7:117664821 [GRCh38]
Chr7:117304875 [GRCh37]
Chr7:7q31.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NC_000007.14:g.(?_117587719)_(117587867_?)del deletion Cystic fibrosis [RCV000630471] Chr7:117587719..117587867 [GRCh38]
Chr7:117227773..117227921 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.610G>T (p.Ala204Ser) single nucleotide variant Cystic fibrosis [RCV001272229]|not provided [RCV000586216] Chr7:117535278 [GRCh38]
Chr7:117175332 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2490+19G>C single nucleotide variant Cystic fibrosis [RCV003617847]|not provided [RCV000588858] Chr7:117592676 [GRCh38]
Chr7:117232730 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.3767C>T (p.Ala1256Val) single nucleotide variant Cystic fibrosis [RCV001272365]|not provided [RCV000588431] Chr7:117642487 [GRCh38]
Chr7:117282541 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4136+14G>A single nucleotide variant Cystic fibrosis [RCV002530905]|not provided [RCV000588676] Chr7:117664874 [GRCh38]
Chr7:117304928 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.1950C>T (p.Phe650=) single nucleotide variant CFTR-related disorder [RCV001834841]|Cystic fibrosis [RCV000863430]|not specified [RCV000586711] Chr7:117592117 [GRCh38]
Chr7:117232171 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.1059A>G (p.Gln353=) single nucleotide variant Cystic fibrosis [RCV002404594]|not specified [RCV000586723] Chr7:117540289 [GRCh38]
Chr7:117180343 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.4053G>C (p.Lys1351Asn) single nucleotide variant CFTR-related disorder [RCV001829625]|Cystic fibrosis [RCV000672552]|not provided [RCV000586919] Chr7:117664777 [GRCh38]
Chr7:117304831 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.744-11T>C single nucleotide variant not provided [RCV000587049] Chr7:117536537 [GRCh38]
Chr7:117176591 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4242+19A>C single nucleotide variant Cystic fibrosis [RCV003507300]|not provided [RCV000589119] Chr7:117665583 [GRCh38]
Chr7:117305637 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.41A>T (p.Lys14Ile) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002483567]|CFTR-related disorder [RCV001834850]|Cystic fibrosis [RCV000819753]|not provided [RCV001811089]|not specified [RCV000588867] Chr7:117480135 [GRCh38]
Chr7:117120189 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1430C>T (p.Pro477Leu) single nucleotide variant CFTR-related disorder [RCV001834838]|Cystic fibrosis [RCV003105976]|not provided [RCV000588954] Chr7:117559501 [GRCh38]
Chr7:117199555 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.31G>A (p.Val11Ile) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002491166]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003471941]|CFTR-related disorder [RCV004530642]|Cystic fibrosis [RCV000630460]|Hereditary pancreatitis [RCV002255467]|not provided [RCV001508582]|not specified [RCV001002302] Chr7:117480125 [GRCh38]
Chr7:117120179 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1500C>A (p.Gly500=) single nucleotide variant Cystic fibrosis [RCV001275235]|not specified [RCV000589081] Chr7:117559571 [GRCh38]
Chr7:117199625 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.1210G>C (p.Gly404Arg) single nucleotide variant CFTR-related disorder [RCV001834837]|Cystic fibrosis [RCV001007590]|not provided [RCV003736831]|not specified [RCV000589364] Chr7:117548641 [GRCh38]
Chr7:117188695 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.720A>G (p.Leu240=) single nucleotide variant Cystic fibrosis [RCV000869484]|not specified [RCV000589698] Chr7:117535388 [GRCh38]
Chr7:117175442 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.2673C>G (p.Asp891Glu) single nucleotide variant not provided [RCV000593537] Chr7:117603547 [GRCh38]
Chr7:117243601 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1196C>T (p.Ala399Val) single nucleotide variant CFTR-related disorder [RCV001158656]|Cystic fibrosis [RCV000669005]|not provided [RCV005000360]|not specified [RCV003389651] Chr7:117542095 [GRCh38]
Chr7:117182149 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2619+17G>T single nucleotide variant Cystic fibrosis [RCV002431739]|not provided [RCV000589234] Chr7:117595075 [GRCh38]
Chr7:117235129 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.3140-17A>G single nucleotide variant Cystic fibrosis [RCV003767337]|not provided [RCV000589415] Chr7:117611564 [GRCh38]
Chr7:117251618 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.954G>A (p.Val318=) single nucleotide variant Cystic fibrosis [RCV000532826] Chr7:117540184 [GRCh38]
Chr7:117180238 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.80G>T (p.Gly27Val) single nucleotide variant not provided [RCV000589825] Chr7:117504279 [GRCh38]
Chr7:117144333 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1019T>A (p.Ile340Asn) single nucleotide variant Cystic fibrosis [RCV001273246]|not specified [RCV002468943] Chr7:117540249 [GRCh38]
Chr7:117180303 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2988+13A>T single nucleotide variant Cystic fibrosis [RCV003159993]|not provided [RCV000589878] Chr7:117606766 [GRCh38]
Chr7:117246820 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.2976T>A (p.Phe992Leu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002506399]|CFTR-related disorder [RCV001834845]|not provided [RCV000589988] Chr7:117606741 [GRCh38]
Chr7:117246795 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1934T>A (p.Met645Lys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002491165]|Cystic fibrosis [RCV001240681]|not specified [RCV002307556] Chr7:117592101 [GRCh38]
Chr7:117232155 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2734T>A (p.Ser912Thr) single nucleotide variant Cystic fibrosis [RCV002282249]|not provided [RCV000590081] Chr7:117603608 [GRCh38]
Chr7:117243662 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2988+20G>A single nucleotide variant Cystic fibrosis [RCV002061973]|not provided [RCV000590095] Chr7:117606773 [GRCh38]
Chr7:117246827 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.4028G>T (p.Gly1343Val) single nucleotide variant CFTR-related disorder [RCV001834847]|not provided [RCV000590185] Chr7:117664752 [GRCh38]
Chr7:117304806 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3068T>G (p.Ile1023Arg) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003471940]|Cystic fibrosis [RCV001226278] Chr7:117610598 [GRCh38]
Chr7:117250652 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000492.4(CFTR):c.2112A>G (p.Pro704=) single nucleotide variant CFTR-related disorder [RCV001829621]|Cystic fibrosis [RCV001437632]|not specified [RCV000590243] Chr7:117592279 [GRCh38]
Chr7:117232333 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.1680-13A>G single nucleotide variant Cystic fibrosis [RCV002065132]|not specified [RCV000590401] Chr7:117590340 [GRCh38]
Chr7:117230394 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.4232A>C (p.Gln1411Pro) single nucleotide variant Cystic fibrosis [RCV000697105]|not provided [RCV000589528]|not specified [RCV002248808] Chr7:117665554 [GRCh38]
Chr7:117305608 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2806C>A (p.Pro936Thr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002476274]|CFTR-related disorder [RCV001829622]|not provided [RCV000590465] Chr7:117603680 [GRCh38]
Chr7:117243734 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3151A>G (p.Ile1051Val) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002483566]|CFTR-related disorder [RCV001163495]|Cystic fibrosis [RCV000671328]|not specified [RCV003226333] Chr7:117611592 [GRCh38]
Chr7:117251646 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2899T>C (p.Leu967=) single nucleotide variant Cystic fibrosis [RCV002532347]|not specified [RCV000590575] Chr7:117603773 [GRCh38]
Chr7:117243827 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.1052C>T (p.Thr351Ile) single nucleotide variant CFTR-related disorder [RCV001829618]|Cystic fibrosis [RCV001785669]|not provided [RCV000757084]|not specified [RCV000590589] Chr7:117540282 [GRCh38]
Chr7:117180336 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.2526A>G (p.Ala842=) single nucleotide variant Cystic fibrosis [RCV001393523]|not provided [RCV000590672] Chr7:117594965 [GRCh38]
Chr7:117235019 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1163C>T (p.Thr388Met) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000765924]|CFTR-related disorder [RCV001158655]|Cystic fibrosis [RCV000822612]|Hereditary pancreatitis [RCV001803865]|not provided [RCV000590683]|not specified [RCV001580520] Chr7:117542062 [GRCh38]
Chr7:117182116 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.869+3A>C single nucleotide variant not provided [RCV000590696] Chr7:117536676 [GRCh38]
Chr7:117176730 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1209+12T>A single nucleotide variant Cystic fibrosis [RCV003105975]|not provided [RCV000590801] Chr7:117542120 [GRCh38]
Chr7:117182174 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.640C>G (p.Leu214Val) single nucleotide variant Cystic fibrosis [RCV002367724]|Hereditary pancreatitis [RCV000518432]|not provided [RCV002476048] Chr7:117535308 [GRCh38]
Chr7:117175362 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1116+6G>C single nucleotide variant not provided [RCV000597130] Chr7:117540352 [GRCh38]
Chr7:117180406 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.416A>C (p.His139Pro) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002491176]|Cystic fibrosis [RCV000625939]|not provided [RCV000591043] Chr7:117531041 [GRCh38]
Chr7:117171095 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1582G>A (p.Glu528Lys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002491223]|CFTR-related disorder [RCV001835872]|Cystic fibrosis [RCV000809718]|not provided [RCV000591105] Chr7:117559653 [GRCh38]
Chr7:117199707 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1247A>G (p.Asn416Ser) single nucleotide variant Cystic fibrosis [RCV000554831]|not specified [RCV003323591] Chr7:117548678 [GRCh38]
Chr7:117188732 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2619+1G>A single nucleotide variant not provided [RCV000597612] Chr7:117595059 [GRCh38]
Chr7:117235113 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003471942]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005034155]|CFTR-related disorder [RCV002232555]|Cystic fibrosis [RCV000757856]|Cystic fibrosis [RCV001004436]|Cystic fibrosis [RCV002281577]|not provided [RCV000587145]|not specified [RCV001002123] Chr7:117534357 [GRCh38]
Chr7:117174411 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1141A>T (p.Lys381Ter) single nucleotide variant Cystic fibrosis [RCV000583796]|Cystic fibrosis [RCV001004256] Chr7:117542040 [GRCh38]
Chr7:117182094 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1544A>G (p.Tyr515Cys) single nucleotide variant CFTR-related disorder [RCV001834839]|Cystic fibrosis [RCV001853981]|not provided [RCV000586452] Chr7:117559615 [GRCh38]
Chr7:117199669 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3273G>C (p.Leu1091Phe) single nucleotide variant not provided [RCV000586571] Chr7:117611714 [GRCh38]
Chr7:117251768 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.40A>G (p.Lys14Glu) single nucleotide variant CFTR-related disorder [RCV001834849]|Cystic fibrosis [RCV001200894]|not provided [RCV000586965]|not specified [RCV001002549] Chr7:117480134 [GRCh38]
Chr7:117120188 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.94C>A (p.Leu32Met) single nucleotide variant Cystic fibrosis [RCV000670047]|not provided [RCV000598321]|not specified [RCV004525980] Chr7:117504293 [GRCh38]
Chr7:117144347 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1718C>T (p.Ser573Phe) single nucleotide variant CFTR-related disorder [RCV001834909]|Cystic fibrosis [RCV001785678]|not provided [RCV000591506]|not specified [RCV001375499] Chr7:117590391 [GRCh38]
Chr7:117230445 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2544A>T (p.Thr848=) single nucleotide variant Cystic fibrosis [RCV002431749]|not provided [RCV000592136] Chr7:117594983 [GRCh38]
Chr7:117235037 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.2854del (p.Met952fs) deletion Cystic fibrosis [RCV000409306] Chr7:117603725 [GRCh38]
Chr7:117243779 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3852A>G (p.Lys1284=) single nucleotide variant Cystic fibrosis [RCV002360853]|not provided [RCV000729989]|not specified [RCV001193707] Chr7:117642572 [GRCh38]
Chr7:117282626 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.1209+1G>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003475957]|Cystic fibrosis [RCV000409393] Chr7:117542109 [GRCh38]
Chr7:117182163 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3944_3951del (p.Ile1315fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003475949]|Cystic fibrosis [RCV000409462]|not provided [RCV001782867] Chr7:117652908..117652915 [GRCh38]
Chr7:117292962..117292969 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.2772C>A (p.Asp924Glu) single nucleotide variant not provided [RCV000730651] Chr7:117603646 [GRCh38]
Chr7:117243700 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1117-220_1117-4del deletion Cystic fibrosis [RCV001804222] Chr7:117541787..117542003 [GRCh38]
Chr7:117181841..117182057 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3536_3539del (p.Thr1179fs) deletion CFTR-related disorder [RCV001828369]|Cystic fibrosis [RCV000409738] Chr7:117627586..117627589 [GRCh38]
Chr7:117267640..117267643 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3368-2A>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003475967]|Cystic fibrosis [RCV000409745]|Cystic fibrosis [RCV001004497] Chr7:117614611 [GRCh38]
Chr7:117254665 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.4383G>T (p.Lys1461Asn) single nucleotide variant Cystic fibrosis [RCV002536456]|not provided [RCV000731008] Chr7:117667048 [GRCh38]
Chr7:117307102 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4159A>G (p.Thr1387Ala) single nucleotide variant CFTR-related disorder [RCV001830610]|Cystic fibrosis [RCV001371671]|not provided [RCV000731042] Chr7:117665481 [GRCh38]
Chr7:117305535 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4058del (p.Gln1352_Leu1353insTer) deletion Cystic fibrosis [RCV000799970]|not provided [RCV000732035] Chr7:117664781 [GRCh38]
Chr7:117304835 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1446T>A (p.Ile482=) single nucleotide variant Cystic fibrosis [RCV001592936]|not provided [RCV000733077]|not specified [RCV001192432] Chr7:117559517 [GRCh38]
Chr7:117199571 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.2191C>T (p.Pro731Ser) single nucleotide variant not provided [RCV000733799] Chr7:117592358 [GRCh38]
Chr7:117232412 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2429del (p.Arg810fs) deletion Cystic fibrosis [RCV000410071] Chr7:117592596 [GRCh38]
Chr7:117232650 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.2483dup (p.Asp828fs) duplication Cystic fibrosis [RCV000410112] Chr7:117592649..117592650 [GRCh38]
Chr7:117232703..117232704 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.2251C>T (p.Arg751Cys) single nucleotide variant Cystic fibrosis [RCV001221260]|not provided [RCV000731168] Chr7:117592418 [GRCh38]
Chr7:117232472 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3275A>G (p.Tyr1092Cys) single nucleotide variant Cystic fibrosis [RCV002325128]|not provided [RCV000594116]|not specified [RCV003330816] Chr7:117611716 [GRCh38]
Chr7:117251770 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1680-8C>A single nucleotide variant not provided [RCV000734369] Chr7:117590345 [GRCh38]
Chr7:117230399 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3895A>G (p.Thr1299Ala) single nucleotide variant CFTR-related disorder [RCV001830645]|Cystic fibrosis [RCV000804511]|not provided [RCV000735088] Chr7:117652863 [GRCh38]
Chr7:117292917 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3001G>A (p.Val1001Met) single nucleotide variant Cystic fibrosis [RCV000757864]|not provided [RCV000735090] Chr7:117610531 [GRCh38]
Chr7:117250585 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.974A>G (p.Tyr325Cys) single nucleotide variant Cystic fibrosis [RCV002386309]|not provided [RCV000735142]|not specified [RCV003235378] Chr7:117540204 [GRCh38]
Chr7:117180258 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3710G>A (p.Gly1237Asp) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002507314]|CFTR-related disorder [RCV001830647]|Cystic fibrosis [RCV000796931]|not provided [RCV000735183] Chr7:117627763 [GRCh38]
Chr7:117267817 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1045G>C (p.Ala349Pro) single nucleotide variant Cystic fibrosis [RCV000757785] Chr7:117540275 [GRCh38]
Chr7:117180329 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity
NM_000492.4(CFTR):c.1559T>A (p.Val520Asp) single nucleotide variant Cystic fibrosis [RCV000757793] Chr7:117559630 [GRCh38]
Chr7:117199684 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3367+2T>A single nucleotide variant Cystic fibrosis [RCV000757815] Chr7:117611810 [GRCh38]
Chr7:117251864 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1116+1G>T single nucleotide variant Cystic fibrosis [RCV000757820] Chr7:117540347 [GRCh38]
Chr7:117180401 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.147_150del (p.Ser50fs) microsatellite Cystic fibrosis [RCV000757824] Chr7:117504342..117504345 [GRCh38]
Chr7:117144396..117144399 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.888_889dup (p.Arg297fs) duplication Cystic fibrosis [RCV000410404] Chr7:117540116..117540117 [GRCh38]
Chr7:117180170..117180171 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.4272C>G (p.Tyr1424Ter) single nucleotide variant Cystic fibrosis [RCV000410428]|not specified [RCV000781255] Chr7:117666937 [GRCh38]
Chr7:117306991 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.180G>C (p.Glu60Asp) single nucleotide variant Cystic fibrosis [RCV002406667]|not provided [RCV000731390] Chr7:117509049 [GRCh38]
Chr7:117149103 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4195C>G (p.Leu1399Val) single nucleotide variant Cystic fibrosis [RCV002332531]|not provided [RCV000733248] Chr7:117665517 [GRCh38]
Chr7:117305571 [GRCh37]
Chr7:7q31.2
uncertain significance
Single allele duplication not specified [RCV000594179] Chr7:117176593..117176596 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.1616T>C (p.Ile539Thr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002493361]|Cystic fibrosis [RCV001855811]|not provided [RCV000734403]|not specified [RCV003330935] Chr7:117587770 [GRCh38]
Chr7:117227824 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs) microsatellite Bronchiectasis with or without elevated sweat chloride 1 [RCV003470326]|CFTR-related disorder [RCV001833488]|Cystic fibrosis [RCV000410620]|Cystic fibrosis [RCV001009393] Chr7:117666961..117666962 [GRCh38]
Chr7:117307015..117307016 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.*94C>T single nucleotide variant Cystic fibrosis [RCV000768404] Chr7:117667202 [GRCh38]
Chr7:117307256 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3495del (p.Lys1165fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003475960]|Cystic fibrosis [RCV000410780] Chr7:117627548 [GRCh38]
Chr7:117267602 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV004567876]|Cystic fibrosis [RCV000410790]|Cystic fibrosis [RCV001004514] Chr7:117664711..117664712 [GRCh38]
Chr7:117304765..117304766 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.865A>T (p.Arg289Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003475952]|Cystic fibrosis [RCV000410831] Chr7:117536669 [GRCh38]
Chr7:117176723 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.4095G>A (p.Lys1365=) single nucleotide variant CFTR-related disorder [RCV001829534]|Cystic fibrosis [RCV000534757] Chr7:117664819 [GRCh38]
Chr7:117304873 [GRCh37]
Chr7:7q31.2
likely benign
NC_000007.13:g.117149156T>TT single nucleotide variant not provided [RCV000728877] Chr7:117149156 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.806T>C (p.Ile269Thr) single nucleotide variant CFTR-related disorder [RCV001835940]|Cystic fibrosis [RCV001363603]|not provided [RCV000728884]|not specified [RCV002282346] Chr7:117536610 [GRCh38]
Chr7:117176664 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2736G>C (p.Ser912=) single nucleotide variant Cystic fibrosis [RCV001487014]|not provided [RCV000728887] Chr7:117603610 [GRCh38]
Chr7:117243664 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.109A>G (p.Ile37Val) single nucleotide variant CFTR-related disorder [RCV004735781]|Cystic fibrosis [RCV001855683]|not provided [RCV000732401] Chr7:117504308 [GRCh38]
Chr7:117144362 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.710A>G (p.Gln237Arg) single nucleotide variant not provided [RCV000594434] Chr7:117535378 [GRCh38]
Chr7:117175432 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1210-15_1210-13delinsT indel Cystic fibrosis [RCV001522141]|not provided [RCV001811585] Chr7:117548626..117548628 [GRCh38]
Chr7:117188680..117188682 [GRCh37]
Chr7:7q31.2
benign|likely benign
NM_000492.4(CFTR):c.708del (p.Gln237fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV004569847]|Cystic fibrosis [RCV002284454]|not specified [RCV001001202] Chr7:117535372 [GRCh38]
Chr7:117175426 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1393-13G>A single nucleotide variant Cystic fibrosis [RCV002549161]|not specified [RCV001001341] Chr7:117559451 [GRCh38]
Chr7:117199505 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.778G>A (p.Val260Met) single nucleotide variant CFTR-related disorder [RCV001832321]|Cystic fibrosis [RCV002409334]|not specified [RCV001002079] Chr7:117536582 [GRCh38]
Chr7:117176636 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.744-2A>G single nucleotide variant Cystic fibrosis [RCV000411056] Chr7:117536546 [GRCh38]
Chr7:117176600 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3963+1G>C single nucleotide variant Cystic fibrosis [RCV000411114] Chr7:117652932 [GRCh38]
Chr7:117292986 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3139+1del deletion CFTR-related disorder [RCV001833491]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV000590394]|Cystic fibrosis [RCV000411144]|Cystic fibrosis [RCV001004293] Chr7:117610669 [GRCh38]
Chr7:117250723 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3533C>A (p.Ser1178Ter) single nucleotide variant Cystic fibrosis [RCV000411279] Chr7:117627586 [GRCh38]
Chr7:117267640 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3517G>A (p.Gly1173Ser) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002491175]|CFTR-related disorder [RCV001834866]|Cystic fibrosis [RCV001245034]|not provided [RCV000594547]|not specified [RCV003994036] Chr7:117627570 [GRCh38]
Chr7:117267624 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.377G>T (p.Gly126Val) single nucleotide variant Cystic fibrosis [RCV002535328]|not provided [RCV000733386] Chr7:117531002 [GRCh38]
Chr7:117171056 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.561C>T (p.Asn187=) single nucleotide variant Cystic fibrosis [RCV002061018]|not provided [RCV000734048] Chr7:117534347 [GRCh38]
Chr7:117174401 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.2665C>T (p.Leu889Phe) single nucleotide variant Cystic fibrosis [RCV002440580]|not provided [RCV000734095] Chr7:117603539 [GRCh38]
Chr7:117243593 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005036074]|CFTR-related disorder [RCV001830642]|Cystic fibrosis [RCV001785716]|not provided [RCV000734691] Chr7:117642566 [GRCh38]
Chr7:117282620 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1680-6T>G single nucleotide variant Cystic fibrosis [RCV005092158]|not provided [RCV000734725]|not specified [RCV002271578] Chr7:117590347 [GRCh38]
Chr7:117230401 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1116+35T>C single nucleotide variant not specified [RCV001002660] Chr7:117540381 [GRCh38]
Chr7:117180435 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1086T>C (p.Tyr362=) single nucleotide variant Cystic fibrosis [RCV001458655]|not provided [RCV003656157] Chr7:117540316 [GRCh38]
Chr7:117180370 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.739_742dup (p.Arg248fs) duplication CFTR-related disorder [RCV001833494]|Cystic fibrosis [RCV000411442] Chr7:117535406..117535407 [GRCh38]
Chr7:117175460..117175461 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.2490+2T>C single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003475936]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005033910]|CFTR-related disorder [RCV001835787]|Cystic fibrosis [RCV000411517]|Fetal cystic hygroma [RCV001526623] Chr7:117592659 [GRCh38]
Chr7:117232713 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000492.4(CFTR):c.3925C>T (p.Gln1309Ter) single nucleotide variant Cystic fibrosis [RCV000757842] Chr7:117652893 [GRCh38]
Chr7:117292947 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.940G>T (p.Gly314Trp) single nucleotide variant Cystic fibrosis [RCV000539778] Chr7:117540170 [GRCh38]
Chr7:117180224 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3036A>G (p.Gln1012=) single nucleotide variant Cystic fibrosis [RCV001475018]|not provided [RCV000733457] Chr7:117610566 [GRCh38]
Chr7:117250620 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.2055A>G (p.Gln685=) single nucleotide variant Cystic fibrosis [RCV001400577]|not provided [RCV000734865]|not specified [RCV004782537] Chr7:117592222 [GRCh38]
Chr7:117232276 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs) duplication CFTR-related disorder [RCV001833493]|Cystic fibrosis [RCV000411629] Chr7:117594992..117594993 [GRCh38]
Chr7:117235046..117235047 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000492.4(CFTR):c.56G>A (p.Trp19Ter) single nucleotide variant Cystic fibrosis [RCV000411729] Chr7:117504255 [GRCh38]
Chr7:117144309 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3407C>T (p.Ala1136Val) single nucleotide variant CFTR-related disorder [RCV001830616]|Cystic fibrosis [RCV001785713]|not provided [RCV000731657]|not specified [RCV001001122] Chr7:117614652 [GRCh38]
Chr7:117254706 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3836T>C (p.Leu1279Ser) single nucleotide variant Cystic fibrosis [RCV002535288]|not provided [RCV000732698] Chr7:117642556 [GRCh38]
Chr7:117282610 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2993del (p.Leu998fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003475944]|Cystic fibrosis [RCV000412107] Chr7:117610522 [GRCh38]
Chr7:117250576 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.4143C>G (p.Tyr1381Ter) single nucleotide variant Cystic fibrosis [RCV000412126] Chr7:117665465 [GRCh38]
Chr7:117305519 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3853G>A (p.Ala1285Thr) single nucleotide variant Cystic fibrosis [RCV002535130]|not provided [RCV000729739] Chr7:117642573 [GRCh38]
Chr7:117282627 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3893G>T (p.Gly1298Val) single nucleotide variant Cystic fibrosis [RCV002284434]|not provided [RCV000729857] Chr7:117652861 [GRCh38]
Chr7:117292915 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2908+4C>A single nucleotide variant Cystic fibrosis [RCV002440575]|not provided [RCV000732814]|not specified [RCV003235376] Chr7:117603786 [GRCh38]
Chr7:117243840 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.688C>T (p.Leu230=) single nucleotide variant Cystic fibrosis [RCV002360858]|not provided [RCV000732862] Chr7:117535356 [GRCh38]
Chr7:117175410 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.2856G>A (p.Met952Ile) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005047002]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001194371]|Cystic fibrosis [RCV001220157]|not provided [RCV000732881] Chr7:117603730 [GRCh38]
Chr7:117243784 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000492.4(CFTR):c.869+1G>C single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003472268]|Cystic fibrosis [RCV002442558]|not provided [RCV000733662] Chr7:117536674 [GRCh38]
Chr7:117176728 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3851_3852dup (p.Ala1285fs) duplication Cystic fibrosis [RCV000412356] Chr7:117642569..117642570 [GRCh38]
Chr7:117282623..117282624 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1606A>G (p.Lys536Glu) single nucleotide variant CFTR-related disorder [RCV001830608]|Cystic fibrosis [RCV001324938]|not provided [RCV000730739]|not specified [RCV000781287] Chr7:117587760 [GRCh38]
Chr7:117227814 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1552A>G (p.Arg518Gly) single nucleotide variant not provided [RCV000732961] Chr7:117559623 [GRCh38]
Chr7:117199677 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3062C>T (p.Pro1021Leu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005034082]|Cystic fibrosis [RCV000536207] Chr7:117610592 [GRCh38]
Chr7:117250646 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.489+87A>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002485906]|Cystic fibrosis [RCV002535244]|not provided [RCV000731922] Chr7:117531201 [GRCh38]
Chr7:117171255 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.166G>T (p.Glu56Ter) single nucleotide variant Cystic fibrosis [RCV000757827] Chr7:117509035 [GRCh38]
Chr7:117149089 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3728T>A (p.Leu1243Ter) single nucleotide variant Cystic fibrosis [RCV000757841] Chr7:117642448 [GRCh38]
Chr7:117282502 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.490-1G>T single nucleotide variant Cystic fibrosis [RCV000757846] Chr7:117534275 [GRCh38]
Chr7:117174329 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.319G>C (p.Ala107Pro) single nucleotide variant Cystic fibrosis [RCV000757869] Chr7:117530944 [GRCh38]
Chr7:117170998 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.701C>A (p.Ala234Asp) single nucleotide variant Cystic fibrosis [RCV000757878] Chr7:117535369 [GRCh38]
Chr7:117175423 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1047G>A (p.Ala349=) single nucleotide variant Cystic fibrosis [RCV003165970]|not provided [RCV000730906]|not specified [RCV003330927] Chr7:117540277 [GRCh38]
Chr7:117180331 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.403A>G (p.Thr135Ala) single nucleotide variant not provided [RCV000730911] Chr7:117531028 [GRCh38]
Chr7:117171082 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4400del (p.Leu1467fs) deletion Cystic fibrosis [RCV000757799] Chr7:117667065 [GRCh38]
Chr7:117307119 [GRCh37]
Chr7:7q31.2
likely pathogenic
NC_000007.13:g.117232396A>AA single nucleotide variant not provided [RCV000727574] Chr7:117232396 [GRCh37]
Chr7:7q31.2
pathogenic
NC_000007.14:g.117479943G>C single nucleotide variant Cystic fibrosis [RCV002535373]|not provided [RCV000734253] Chr7:117479943 [GRCh38]
Chr7:117119997 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3588A>T (p.Ser1196=) single nucleotide variant CFTR-related disorder [RCV004540075]|Cystic fibrosis [RCV001087984]|not provided [RCV000735009]|not specified [RCV002282351] Chr7:117627641 [GRCh38]
Chr7:117267695 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.3368-4A>G single nucleotide variant Cystic fibrosis [RCV001407781]|not provided [RCV000728095] Chr7:117614609 [GRCh38]
Chr7:117254663 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.2895C>A (p.Asn965Lys) single nucleotide variant CFTR-related disorder [RCV001825454]|Cystic fibrosis [RCV001785712]|not provided [RCV000729543]|not specified [RCV000781279] Chr7:117603769 [GRCh38]
Chr7:117243823 [GRCh37]
Chr7:7q31.2
uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NC_000007.14:g.(?_117664682)_(117665570_?)del deletion Cystic fibrosis [RCV000553493] Chr7:117664682..117665570 [GRCh38]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.697C>G (p.Leu233Val) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002481326]|Cystic fibrosis [RCV001007618]|not provided [RCV000435093]|not specified [RCV001584120] Chr7:117535365 [GRCh38]
Chr7:117175419 [GRCh37]
Chr7:7q31.2
uncertain significance
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
NP_000483.3:p.Ser549Arg single nucleotide variant Cystic fibrosis [RCV000007538] Chr7:7q31.2 pathogenic
NM_000492.4(CFTR):c.3276C>R (p.Tyr1092Ter) single nucleotide variant Cystic fibrosis [RCV000119251] Chr7:117611717 [GRCh38]
Chr7:117251771 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3718-2477C>G single nucleotide variant Hereditary pancreatitis [RCV003444508] Chr7:117639961 [GRCh38]
Chr7:117280015 [GRCh37]
Chr7:7q31.2
drug response|uncertain significance
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val) single nucleotide variant CFTR-related disorder [RCV004539954]|Cystic fibrosis [RCV000474081]|not provided [RCV000729714]|not specified [RCV001193705] Chr7:117548795 [GRCh38]
Chr7:117188849 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.4087A>C (p.Lys1363Gln) single nucleotide variant CFTR-related disorder [RCV001828483]|Cystic fibrosis [RCV000466860] Chr7:117664811 [GRCh38]
Chr7:117304865 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.489+8T>G single nucleotide variant Cystic fibrosis [RCV001081023]|not provided [RCV000731938]|not specified [RCV003226301] Chr7:117531122 [GRCh38]
Chr7:117171176 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000007.14:g.(?_117504253)_(117509142_?)del deletion Cystic fibrosis [RCV000474749] Chr7:117504253..117509142 [GRCh38]
Chr7:117144307..117149196 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.393T>C (p.Phe131=) single nucleotide variant CFTR-related disorder [RCV001833601]|Cystic fibrosis [RCV001467061]|not provided [RCV000735022] Chr7:117531018 [GRCh38]
Chr7:117171072 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1679+9C>G single nucleotide variant CFTR-related disorder [RCV004735555]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001591125]|Cystic fibrosis [RCV000456154]|not provided [RCV001508585]|not specified [RCV003387851] Chr7:117587842 [GRCh38]
Chr7:117227896 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005044693]|CFTR-related disorder [RCV001160218]|Cystic fibrosis [RCV000456157]|Hereditary pancreatitis [RCV002255397]|not provided [RCV000507912]|not specified [RCV001002200] Chr7:117667022 [GRCh38]
Chr7:117307076 [GRCh37]
Chr7:7q31.2
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.372C>T (p.Gly124=) single nucleotide variant CFTR-related disorder [RCV001828479]|Cystic fibrosis [RCV000467704]|not provided [RCV003144273] Chr7:117530997 [GRCh38]
Chr7:117171051 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.365A>G (p.Tyr122Cys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002489073]|Cystic fibrosis [RCV000471538]|not specified [RCV001001893] Chr7:117530990 [GRCh38]
Chr7:117171044 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.196A>G (p.Asn66Asp) single nucleotide variant Cystic fibrosis [RCV000475372] Chr7:117509065 [GRCh38]
Chr7:117149119 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1186A>T (p.Asn396Tyr) single nucleotide variant CFTR-related disorder [RCV001833593]|Cystic fibrosis [RCV000457331] Chr7:117542085 [GRCh38]
Chr7:117182139 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3368-10G>A single nucleotide variant Cystic fibrosis [RCV001438910] Chr7:117614603 [GRCh38]
Chr7:117254657 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.66A>G (p.Pro22=) single nucleotide variant CFTR-related disorder [RCV001833602]|Cystic fibrosis [RCV001407727] Chr7:117504265 [GRCh38]
Chr7:117144319 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4142A>G (p.Tyr1381Cys) single nucleotide variant CFTR-related disorder [RCV001833592]|Cystic fibrosis [RCV000476211] Chr7:117665464 [GRCh38]
Chr7:117305518 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.738G>A (p.Lys246=) single nucleotide variant CFTR-related disorder [RCV001828495]|Cystic fibrosis [RCV000469018]|not provided [RCV003431039]|not specified [RCV000593260] Chr7:117535406 [GRCh38]
Chr7:117175460 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1734A>G (p.Leu578=) single nucleotide variant CFTR-related disorder [RCV001828494]|Cystic fibrosis [RCV000458097]|not provided [RCV004791490]|not specified [RCV000781265] Chr7:117590407 [GRCh38]
Chr7:117230461 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.2908+1G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003476096]|CFTR-related disorder [RCV001828481]|Cystic fibrosis [RCV000465662]|Hereditary pancreatitis [RCV003230503] Chr7:117603783 [GRCh38]
Chr7:117243837 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.813T>G (p.Ser271=) single nucleotide variant Cystic fibrosis [RCV001425568] Chr7:117536617 [GRCh38]
Chr7:117176671 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3256A>T (p.Thr1086Ser) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002481463]|CFTR-related disorder [RCV001828482]|Cystic fibrosis [RCV000469743]|not provided [RCV000592986] Chr7:117611697 [GRCh38]
Chr7:117251751 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2552G>A (p.Arg851Gln) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002496785]|CFTR-related disorder [RCV001828480]|Cystic fibrosis [RCV000477326]|not provided [RCV000757088]|not specified [RCV003235228] Chr7:117594991 [GRCh38]
Chr7:117235045 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.638G>A (p.Gly213Glu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000765923]|Bronchiectasis with or without elevated sweat chloride 1 [RCV003476095]|Cystic fibrosis [RCV000469964]|not provided [RCV001509314]|not specified [RCV000780120] Chr7:117535306 [GRCh38]
Chr7:117175360 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3267G>C (p.Trp1089Cys) single nucleotide variant Cystic fibrosis [RCV001275773]|not provided [RCV000766815]|not specified [RCV000498926] Chr7:117611708 [GRCh38]
Chr7:117251762 [GRCh37]
Chr7:7q31.2
pathogenic|uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000492.4(CFTR):c.3121A>C (p.Lys1041Gln) single nucleotide variant CFTR-related disorder [RCV001829447]|Cystic fibrosis [RCV001785649]|not provided [RCV000588700]|not specified [RCV000508215] Chr7:117610651 [GRCh38]
Chr7:117250705 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3628A>G (p.Met1210Val) single nucleotide variant CFTR-related disorder [RCV001834635]|not specified [RCV000508248] Chr7:117627681 [GRCh38]
Chr7:117267735 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1584+77A>G single nucleotide variant not provided [RCV004705634]|not specified [RCV000508302] Chr7:117559732 [GRCh38]
Chr7:117199786 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.869+8G>C single nucleotide variant Cystic fibrosis [RCV003507287]|not specified [RCV000508316] Chr7:117536681 [GRCh38]
Chr7:117176735 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.3140-33A>G single nucleotide variant CFTR-related disorder [RCV004535636]|not provided [RCV005000055]|not specified [RCV000508317] Chr7:117611548 [GRCh38]
Chr7:117251602 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.3204C>T (p.Phe1068=) single nucleotide variant CFTR-related disorder [RCV001163496]|Cystic fibrosis [RCV000547756]|not specified [RCV000508336] Chr7:117611645 [GRCh38]
Chr7:117251699 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.4078del (p.Val1360fs) deletion not provided [RCV000508389] Chr7:117664802 [GRCh38]
Chr7:117304856 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.3(CFTR):c.2147_2148delAGins14 (p.?) indel not specified [RCV000508491] Chr7:117592314..117592315 [GRCh38]
Chr7:117232368..117232369 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.3(CFTR):c.233dup (p.Trp79Leufs) duplication not provided [RCV000508526] Chr7:117509102 [GRCh38]
Chr7:117149156 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3(CFTR):c.744-9_744-6dup duplication not specified [RCV000508555] Chr7:117536539..117536542 [GRCh38]
Chr7:117176593..117176596 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.57G>A (p.Trp19Ter) single nucleotide variant CFTR-related disorder [RCV001829608]|Cystic fibrosis [RCV000576462]|not provided [RCV001283974] Chr7:117504256 [GRCh38]
Chr7:117144310 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3988C>T (p.Gln1330Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003471914]|Cystic fibrosis [RCV000576660] Chr7:117664712 [GRCh38]
Chr7:117304766 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1647T>A (p.Ser549Arg) single nucleotide variant Cystic fibrosis [RCV000576753]|Hereditary pancreatitis [RCV002248790] Chr7:117587801 [GRCh38]
Chr7:117227855 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3(CFTR):c.1327_1330dup (p.Ile444Argfs) duplication not provided [RCV000505903] Chr7:117548758..117548761 [GRCh38]
Chr7:117188812..117188815 [GRCh37]
Chr7:7q31.2
pathogenic
NC_000007.14:g.117603679_117603684delinsTCAGA indel Cystic fibrosis [RCV001004487]|Cystic fibrosis [RCV001009453]|not provided [RCV000505973] Chr7:117603679..117603684 [GRCh38]
Chr7:117243733..117243738 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1766+86C>A single nucleotide variant not specified [RCV000506056] Chr7:117590525 [GRCh38]
Chr7:117230579 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2657+1_2657+2insA insertion not specified [RCV000506071] Chr7:117602864..117602865 [GRCh38]
Chr7:117242918..117242919 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1680-829C>G single nucleotide variant not specified [RCV000506077] Chr7:117589524 [GRCh38]
Chr7:117229578 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4162C>G (p.Leu1388Val) single nucleotide variant Cystic fibrosis [RCV002329206]|not specified [RCV000506108] Chr7:117665484 [GRCh38]
Chr7:117305538 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.14:g.117479647A>G single nucleotide variant Cystic fibrosis [RCV000666667]|not provided [RCV000731968]|not specified [RCV000506125] Chr7:117479647 [GRCh38]
Chr7:117119701 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.340_342del (p.Lys114del) deletion not provided [RCV000759039]|not specified [RCV003479143] Chr7:117530965..117530967 [GRCh38]
Chr7:117171019..117171021 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2557A>G (p.Ile853Val) single nucleotide variant Cystic fibrosis [RCV001273211]|not provided [RCV000589065]|not specified [RCV000506158] Chr7:117594996 [GRCh38]
Chr7:117235050 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1469del (p.Phe490fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003476204]|Cystic fibrosis [RCV001004454]|Cystic fibrosis [RCV001865649]|not provided [RCV000506324] Chr7:117559539 [GRCh38]
Chr7:117199593 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.2184_2185insA (p.Asp729fs) insertion not provided [RCV000506369] Chr7:117592351..117592352 [GRCh38]
Chr7:117232405..117232406 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.2982_2988+2del deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV005044759]|Cystic fibrosis [RCV003317246]|not provided [RCV000506422] Chr7:117606746..117606754 [GRCh38]
Chr7:117246800..117246808 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.4085G>A (p.Ser1362Asn) single nucleotide variant CFTR-related disorder [RCV001829443]|Cystic fibrosis [RCV001785645]|not specified [RCV000506612] Chr7:117664809 [GRCh38]
Chr7:117304863 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3367+37G>A single nucleotide variant Cystic fibrosis [RCV001009338]|not provided [RCV000985256] Chr7:117611845 [GRCh38]
Chr7:117251899 [GRCh37]
Chr7:7q31.2
benign|likely benign
NM_000492.4(CFTR):c.2490+14G>T single nucleotide variant Cystic fibrosis [RCV001396157]|not provided [RCV000586509]|not specified [RCV000506735] Chr7:117592671 [GRCh38]
Chr7:117232725 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.3420G>A (p.Met1140Ile) single nucleotide variant CFTR-related disorder [RCV001834632]|Cystic fibrosis [RCV001314587]|not specified [RCV000506778] Chr7:117614665 [GRCh38]
Chr7:117254719 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.870-7_870-5del deletion CFTR-related disorder [RCV004541577]|Cystic fibrosis [RCV000868641]|not provided [RCV003114635]|not specified [RCV000506879] Chr7:117540090..117540092 [GRCh38]
Chr7:117180144..117180146 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1210-34TG[10] microsatellite Cystic fibrosis [RCV001009358]|Inborn genetic diseases [RCV001172257]|not provided [RCV001618717]|not specified [RCV000507070] Chr7:117548607..117548608 [GRCh38]
Chr7:117188661..117188662 [GRCh37]
Chr7:7q31.2
benign|likely benign
NM_000492.3(CFTR):c.1210-17_1210-12del microsatellite CFTR-related disorder [RCV004535638]|Cystic fibrosis [RCV001510196]|not specified [RCV003231512] Chr7:117548607..117548612 [GRCh38]
Chr7:117188678..117188683 [GRCh37]
Chr7:7q31.2
benign|likely benign
NM_000492.4(CFTR):c.3650C>T (p.Ala1217Val) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002490850]|Cystic fibrosis [RCV000797225]|not provided [RCV000587924]|not specified [RCV000999841] Chr7:117627703 [GRCh38]
Chr7:117267757 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1210-12_1210-11insG insertion CFTR-related disorder [RCV004535633]|not specified [RCV000507139] Chr7:117548629..117548630 [GRCh38]
Chr7:117188683..117188684 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.273+8T>A single nucleotide variant Cystic fibrosis [RCV001785644]|not provided [RCV000587759]|not specified [RCV000507185] Chr7:117509150 [GRCh38]
Chr7:117149204 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.3:c.948 variation Cystic fibrosis [RCV000577613]   not provided
NM_000492.4(CFTR):c.1486T>C (p.Trp496Arg) single nucleotide variant Cystic fibrosis [RCV001250571]|not provided [RCV003128811]|not specified [RCV000507227] Chr7:117559557 [GRCh38]
Chr7:117199611 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3808del (p.Asp1270fs) deletion Cystic fibrosis [RCV001844181]|not provided [RCV000507233] Chr7:117642528 [GRCh38]
Chr7:117282582 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.464C>G (p.Ala155Gly) single nucleotide variant Cystic fibrosis [RCV001785647]|not specified [RCV000507256] Chr7:117531089 [GRCh38]
Chr7:117171143 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1210-34TG[9] microsatellite CFTR-related disorder [RCV004535639]|Cystic fibrosis [RCV001009362]|not provided [RCV003656638] Chr7:117548607..117548610 [GRCh38]
Chr7:117188661..117188664 [GRCh37]
Chr7:7q31.2
benign|likely benign
NM_000492.4(CFTR):c.1584+53_1584+63dup duplication Cystic fibrosis [RCV000533542]|not provided [RCV002476011]|not specified [RCV000507332] Chr7:117559705..117559706 [GRCh38]
Chr7:117199759..117199760 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000492.3(CFTR):c.3889dup (p.Ser1297Phefs) duplication not provided [RCV000507350] Chr7:117652857 [GRCh38]
Chr7:117292911 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1783A>G (p.Met595Val) single nucleotide variant Cystic fibrosis [RCV001275237]|not provided [RCV001800723]|not specified [RCV000507443] Chr7:117591950 [GRCh38]
Chr7:117232004 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3983T>C (p.Ile1328Thr) single nucleotide variant CFTR-related disorder [RCV001829442]|Cystic fibrosis [RCV000804416]|not provided [RCV000723504]|not specified [RCV000507454] Chr7:117664707 [GRCh38]
Chr7:117304761 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.744-33GATT[5] microsatellite Cystic fibrosis [RCV000665587]|not specified [RCV000507473] Chr7:117536515..117536522 [GRCh38]
Chr7:117176569..117176576 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.3(CFTR):c.2083dup (p.Glu695Glyfs) duplication not provided [RCV000507543] Chr7:117592250 [GRCh38]
Chr7:117232304 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002476013]|CFTR-related disorder [RCV001829446]|Cystic fibrosis [RCV000808110]|not provided [RCV001283965]|not specified [RCV000507575] Chr7:117559508 [GRCh38]
Chr7:117199562 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.3(CFTR):c.3376_3381dup microsatellite not specified [RCV000507586] Chr7:117614610..117614611 [GRCh38]
Chr7:117254664..117254665 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4243-20A>G single nucleotide variant CFTR-related disorder [RCV004541576]|Cystic fibrosis [RCV000664604]|Hereditary pancreatitis [RCV002255421]|not provided [RCV000586481]|not specified [RCV001778983] Chr7:117666888 [GRCh38]
Chr7:117306942 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.454A>T (p.Met152Leu) single nucleotide variant CFTR-related disorder [RCV001834634]|Cystic fibrosis [RCV001865656]|not provided [RCV000507634]|not specified [RCV003235258] Chr7:117531079 [GRCh38]
Chr7:117171133 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1235C>T (p.Ala412Val) single nucleotide variant not specified [RCV000507692] Chr7:117548666 [GRCh38]
Chr7:117188720 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3429G>A (p.Leu1143=) single nucleotide variant CFTR-related disorder [RCV001163785]|Cystic fibrosis [RCV000863415]|not specified [RCV000507700] Chr7:117614674 [GRCh38]
Chr7:117254728 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.918T>C (p.Asn306=) single nucleotide variant not specified [RCV000507794] Chr7:117540148 [GRCh38]
Chr7:117180202 [GRCh37]
Chr7:7q31.2
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000492.4(CFTR):c.1613_1615del (p.Asn538del) deletion not specified [RCV000507802] Chr7:117587766..117587768 [GRCh38]
Chr7:117227820..117227822 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.14:g.117479930G>A single nucleotide variant CFTR-related disorder [RCV004735581]|Cystic fibrosis [RCV000671099]|not provided [RCV000507860] Chr7:117479930 [GRCh38]
Chr7:117119984 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.3789T>C (p.Thr1263=) single nucleotide variant CFTR-related disorder [RCV001834636]|Cystic fibrosis [RCV000630463]|not specified [RCV000507879] Chr7:117642509 [GRCh38]
Chr7:117282563 [GRCh37]
Chr7:7q31.2
benign|likely benign|uncertain significance
NM_000492.4(CFTR):c.744-34_744-31del deletion CFTR-related disorder [RCV004535637]|not provided [RCV003478082]|not specified [RCV000507936] Chr7:117536513..117536516 [GRCh38]
Chr7:117176567..117176570 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.29G>A (p.Ser10Asn) single nucleotide variant CFTR-related disorder [RCV001158548]|Cystic fibrosis [RCV000696094]|not provided [RCV003114634]|not specified [RCV000507945] Chr7:117480123 [GRCh38]
Chr7:117120177 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.900C>A (p.Ala300=) single nucleotide variant CFTR-related disorder [RCV001829448]|Cystic fibrosis [RCV000875740]|not specified [RCV000507976] Chr7:117540130 [GRCh38]
Chr7:117180184 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2015_2017del (p.Glu672del) deletion Cystic fibrosis [RCV002420276]|not specified [RCV000508007] Chr7:117592180..117592182 [GRCh38]
Chr7:117232234..117232236 [GRCh37]
Chr7:7q31.2
uncertain significance|not provided
NM_000492.4(CFTR):c.1239dup (p.Gln414fs) duplication Hereditary nonpolyposis colon cancer [RCV004541575]|Hereditary pancreatitis [RCV004526692]|not provided [RCV000508067] Chr7:117548666..117548667 [GRCh38]
Chr7:117188720..117188721 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3945A>G (p.Ile1315Met) single nucleotide variant Cystic fibrosis [RCV001785648]|not specified [RCV000508074] Chr7:117652913 [GRCh38]
Chr7:117292967 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1440T>G (p.Gly480=) single nucleotide variant not specified [RCV000508103] Chr7:117559511 [GRCh38]
Chr7:117199565 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1360_1381delinsATAGAAA indel Cystic fibrosis [RCV002284402]|not specified [RCV000508122] Chr7:117548791..117548812 [GRCh38]
Chr7:117188845..117188866 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.14:g.(?_117664660)_(117668151_?)del deletion Cystic fibrosis [RCV000707811] Chr7:117664660..117668151 [GRCh38]
Chr7:117304714..117308205 [GRCh37]
Chr7:7q31.2
pathogenic
NC_000007.14:g.(?_117474181)_(117668151_?)del deletion Cystic fibrosis [RCV000708498] Chr7:117474181..117668151 [GRCh38]
Chr7:117114235..117308205 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3(CFTR):c.1018_1019insTC (p.Phe342Hisfs) insertion Cystic fibrosis [RCV000495983] Chr7:117540248..117540249 [GRCh38]
Chr7:117180302..117180303 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3(CFTR):c.2045_2046insA (p.Gln685Thrfs) insertion Cystic fibrosis [RCV000496037] Chr7:117592212..117592213 [GRCh38]
Chr7:117232266..117232267 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg) single nucleotide variant Cystic fibrosis [RCV000669903] Chr7:117530930 [GRCh38]
Chr7:117170984 [GRCh37]
Chr7:7q31.2
pathogenic|uncertain significance
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter) single nucleotide variant CFTR-related disorder [RCV001830445]|Cystic fibrosis [RCV000670033] Chr7:117548732 [GRCh38]
Chr7:117188786 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.328G>A (p.Asp110Asn) single nucleotide variant Cystic fibrosis [RCV000668886] Chr7:117530953 [GRCh38]
Chr7:117171007 [GRCh37]
Chr7:7q31.2
uncertain significance
GRCh37/hg19 7q31.1-31.31(chr7:113764678-117694762)x3 copy number gain See cases [RCV000511301] Chr7:113764678..117694762 [GRCh37]
Chr7:7q31.1-31.31
uncertain significance
NM_000492.4(CFTR):c.1155_1156dup (p.Asn386fs) microsatellite Bronchiectasis with or without elevated sweat chloride 1 [RCV003471915]|CFTR-related disorder [RCV001829609]|Cystic fibrosis [RCV000046247]|Cystic fibrosis [RCV001004257]|not provided [RCV000985671] Chr7:117542050..117542051 [GRCh38]
Chr7:117182104..117182105 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.4197_4198del (p.Leu1399_Cys1400insTer) microsatellite Bronchiectasis with or without elevated sweat chloride 1 [RCV003471917]|CFTR-related disorder [RCV001834825]|Cystic fibrosis [RCV000047100]|not provided [RCV001507718] Chr7:117665516..117665517 [GRCh38]
Chr7:117305570..117305571 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2241_2248del (p.Ile748fs) deletion CFTR-related disorder [RCV001834823]|Cystic fibrosis [RCV000576375] Chr7:117592406..117592413 [GRCh38]
Chr7:117232460..117232467 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3(CFTR):c.3039dupC (p.Tyr1014Leufs) duplication Cystic fibrosis [RCV000576456] Chr7:117610569 [GRCh38]
Chr7:117250623 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3(CFTR):c.3468+2dup duplication Bronchiectasis with or without elevated sweat chloride 1 [RCV003465284]|Cystic fibrosis [RCV000576486]|not provided [RCV000726994] Chr7:117614714..117614715 [GRCh38]
Chr7:117254768..117254769 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.3(CFTR):c.(3873+1_3874-1)_(3963+1_3964-1)del deletion Cystic fibrosis [RCV000576610]   pathogenic
NM_000492.4(CFTR):c.3217dup (p.Tyr1073fs) duplication Cystic fibrosis [RCV000576856]|not provided [RCV001269844] Chr7:117611656..117611657 [GRCh38]
Chr7:117251710..117251711 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.2450G>T (p.Gly817Val) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002490942]|Cystic fibrosis [RCV000541753]|not provided [RCV003736803]|not specified [RCV000781226] Chr7:117592617 [GRCh38]
Chr7:117232671 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.729G>A (p.Met243Ile) single nucleotide variant Cystic fibrosis [RCV003296504] Chr7:117535397 [GRCh38]
Chr7:117175451 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.310A>G (p.Arg104Gly) single nucleotide variant Cystic fibrosis [RCV003296505] Chr7:117530935 [GRCh38]
Chr7:117170989 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4370A>T (p.Lys1457Met) single nucleotide variant Cystic fibrosis [RCV003296508] Chr7:117667035 [GRCh38]
Chr7:117307089 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1612A>C (p.Asn538His) single nucleotide variant Cystic fibrosis [RCV003296509] Chr7:117587766 [GRCh38]
Chr7:117227820 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1625G>A (p.Gly542Glu) single nucleotide variant Cystic fibrosis [RCV003296511]|not specified [RCV003324095] Chr7:117587779 [GRCh38]
Chr7:117227833 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.743+11A>G single nucleotide variant Cystic fibrosis [RCV003296512] Chr7:117535422 [GRCh38]
Chr7:117175476 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2238G>C (p.Glu746Asp) single nucleotide variant Cystic fibrosis [RCV003296514] Chr7:117592405 [GRCh38]
Chr7:117232459 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1043T>C (p.Met348Thr) single nucleotide variant Cystic fibrosis [RCV003296515]|not specified [RCV004765792] Chr7:117540273 [GRCh38]
Chr7:117180327 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3697_3698del (p.Ser1233fs) microsatellite Cystic fibrosis [RCV003296525] Chr7:117627748..117627749 [GRCh38]
Chr7:117267802..117267803 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1070C>T (p.Ala357Val) single nucleotide variant not provided [RCV003738430]|not specified [RCV003317758] Chr7:117540300 [GRCh38]
Chr7:117180354 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2420T>C (p.Ile807Thr) single nucleotide variant Cystic fibrosis [RCV000538563] Chr7:117592587 [GRCh38]
Chr7:117232641 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.3(CFTR):c.(1392+1_1393-1)_(1584+1_1585-1)del deletion Cystic fibrosis [RCV000623817]   pathogenic
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe) single nucleotide variant CFTR-related disorder [RCV001163786]|Cystic fibrosis [RCV000538933]|not provided [RCV003144315]|not specified [RCV002509422] Chr7:117614713 [GRCh38]
Chr7:117254767 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.2053dup (p.Gln685fs) duplication CFTR-related disorder [RCV001835856]|Cystic fibrosis [RCV000191011] Chr7:117592219..117592220 [GRCh38]
Chr7:117232273..117232274 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3(CFTR):c.(3468+1_3469-1)_(3963+1_3964-1)del deletion Cystic fibrosis [RCV000576410] Chr7:117250573..117254767 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.470_483del (p.Met156_Phe157insTer) deletion Cystic fibrosis [RCV000576514]|not provided [RCV003480703] Chr7:117531094..117531107 [GRCh38]
Chr7:117171148..117171161 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.837A>T (p.Glu279Asp) single nucleotide variant Cystic fibrosis [RCV002438542]|not provided [RCV000595634]|not specified [RCV003403402] Chr7:117536641 [GRCh38]
Chr7:117176695 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3874-4522A>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003471958]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005044889]|CFTR-related disorder [RCV004530697]|Cystic fibrosis [RCV000665784]|Cystic fibrosis [RCV001009398]|not provided [RCV000597152] Chr7:117648320 [GRCh38]
Chr7:117288374 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.3794G>T (p.Gly1265Val) single nucleotide variant Cystic fibrosis [RCV000664824]|not provided [RCV000594452]|not specified [RCV004526715] Chr7:117642514 [GRCh38]
Chr7:117282568 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3718-24G>A single nucleotide variant CFTR-related disorder [RCV004530687]|Cystic fibrosis [RCV001085769]|not provided [RCV000594601] Chr7:117642414 [GRCh38]
Chr7:117282468 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.869+9T>C single nucleotide variant Cystic fibrosis [RCV001490010]|not provided [RCV001284135] Chr7:117536682 [GRCh38]
Chr7:117176736 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.2423A>T (p.Tyr808Phe) single nucleotide variant not provided [RCV001284477] Chr7:117592590 [GRCh38]
Chr7:117232644 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.273G>C (p.Gly91=) single nucleotide variant Cystic fibrosis [RCV000587955] Chr7:117509142 [GRCh38]
Chr7:117149196 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1231A>G (p.Lys411Glu) single nucleotide variant CFTR-related disorder [RCV003493680]|Cystic fibrosis [RCV002368030]|not provided [RCV000596788]|not specified [RCV003317297] Chr7:117548662 [GRCh38]
Chr7:117188716 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3772T>C (p.Leu1258=) single nucleotide variant Cystic fibrosis [RCV002350432]|not provided [RCV000597997] Chr7:117642492 [GRCh38]
Chr7:117282546 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.3333C>T (p.Phe1111=) single nucleotide variant Cystic fibrosis [RCV002325120]|not specified [RCV000586785] Chr7:117611774 [GRCh38]
Chr7:117251828 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.1781T>C (p.Leu594Pro) single nucleotide variant Cystic fibrosis [RCV000536733] Chr7:117591948 [GRCh38]
Chr7:117232002 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.4018G>C (p.Val1340Leu) single nucleotide variant Cystic fibrosis [RCV000533771] Chr7:117664742 [GRCh38]
Chr7:117304796 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3308T>G (p.Ile1103Arg) single nucleotide variant Cystic fibrosis [RCV003283380] Chr7:117611749 [GRCh38]
Chr7:117251803 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.707T>A (p.Phe236Tyr) single nucleotide variant Cystic fibrosis [RCV003283381] Chr7:117535375 [GRCh38]
Chr7:117175429 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2587C>T (p.Leu863=) single nucleotide variant Cystic fibrosis [RCV003283385] Chr7:117595026 [GRCh38]
Chr7:117235080 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.418C>G (p.Pro140Ala) single nucleotide variant Cystic fibrosis [RCV003283386]|not specified [RCV003988104] Chr7:117531043 [GRCh38]
Chr7:117171097 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3842A>C (p.Gln1281Pro) single nucleotide variant Cystic fibrosis [RCV003283388] Chr7:117642562 [GRCh38]
Chr7:117282616 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4384C>T (p.Pro1462Ser) single nucleotide variant Cystic fibrosis [RCV003283389] Chr7:117667049 [GRCh38]
Chr7:117307103 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1371T>C (p.Ala457=) single nucleotide variant Cystic fibrosis [RCV003283396] Chr7:117548802 [GRCh38]
Chr7:117188856 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2812G>C (p.Val938Leu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002481754]|Cystic fibrosis [RCV000544560]|not provided [RCV001284614] Chr7:117603686 [GRCh38]
Chr7:117243740 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.944T>C (p.Phe315Ser) single nucleotide variant CFTR-related disorder [RCV001835839]|Cystic fibrosis [RCV000554519]|not provided [RCV000589384]|not specified [RCV000855642] Chr7:117540174 [GRCh38]
Chr7:117180228 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3933T>G (p.Ser1311Arg) single nucleotide variant Cystic fibrosis [RCV002377227]|not provided [RCV000595732] Chr7:117652901 [GRCh38]
Chr7:117292955 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4436G>A (p.Arg1479Lys) single nucleotide variant CFTR-related disorder [RCV001829683]|Cystic fibrosis [RCV000805213]|not provided [RCV000595527]|not specified [RCV001000853] Chr7:117667101 [GRCh38]
Chr7:117307155 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2161del (p.Gln720_Met721insTer) deletion Cystic fibrosis [RCV003317759] Chr7:117592326 [GRCh38]
Chr7:117232380 [GRCh37]
Chr7:7q31.2
pathogenic
NC_000007.13:g.(117292986_117304741)_(117305619_117306961)del deletion Cystic fibrosis [RCV003317761] Chr7:117304741..117305619 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.531dup (p.Gly178fs) duplication CFTR-related disorder [RCV001829626]|Cystic fibrosis [RCV000589412] Chr7:117534315..117534316 [GRCh38]
Chr7:117174369..117174370 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.488del (p.Lys163fs) deletion Cystic fibrosis [RCV000590773] Chr7:117531112 [GRCh38]
Chr7:117171166 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.4340T>A (p.Val1447Glu) single nucleotide variant CFTR-related disorder [RCV001834717]|Cystic fibrosis [RCV000537941]|not specified [RCV001001127] Chr7:117667005 [GRCh38]
Chr7:117307059 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2658-2A>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004568313]|Cystic fibrosis [RCV000757832]|not provided [RCV000594282] Chr7:117603530 [GRCh38]
Chr7:117243584 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3238A>C (p.Lys1080Gln) single nucleotide variant CFTR-related disorder [RCV004735677]|Cystic fibrosis [RCV000706586]|not provided [RCV001284617]|not specified [RCV000616712] Chr7:117611679 [GRCh38]
Chr7:117251733 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4417G>A (p.Glu1473Lys) single nucleotide variant Cystic fibrosis [RCV002331025]|not provided [RCV000594928] Chr7:117667082 [GRCh38]
Chr7:117307136 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.426T>C (p.Ile142=) single nucleotide variant not specified [RCV000585921] Chr7:117531051 [GRCh38]
Chr7:117171105 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr) single nucleotide variant Cystic fibrosis [RCV000673111]|not provided [RCV000585951] Chr7:117559642 [GRCh38]
Chr7:117199696 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1600G>T (p.Ala534Ser) single nucleotide variant CFTR-related disorder [RCV001834840]|Cystic fibrosis [RCV001860127]|not provided [RCV000586088] Chr7:117587754 [GRCh38]
Chr7:117227808 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.972C>G (p.Pro324=) single nucleotide variant Cystic fibrosis [RCV001867908]|not specified [RCV000586351] Chr7:117540202 [GRCh38]
Chr7:117180256 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1392+19A>G single nucleotide variant Cystic fibrosis [RCV003296506] Chr7:117548842 [GRCh38]
Chr7:117188896 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.682G>A (p.Gly228Ser) single nucleotide variant Cystic fibrosis [RCV003296507] Chr7:117535350 [GRCh38]
Chr7:117175404 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4357C>A (p.Arg1453=) single nucleotide variant Cystic fibrosis [RCV003296520] Chr7:117667022 [GRCh38]
Chr7:117307076 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3706C>G (p.Pro1236Ala) single nucleotide variant Cystic fibrosis [RCV003296523] Chr7:117627759 [GRCh38]
Chr7:117267813 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.359C>T (p.Ala120Val) single nucleotide variant CFTR-related disorder [RCV001834983]|Cystic fibrosis [RCV000630454]|not provided [RCV004773050]|not specified [RCV004702214] Chr7:117530984 [GRCh38]
Chr7:117171038 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2620-2A>G single nucleotide variant CFTR-related disorder [RCV001834985]|Cystic fibrosis [RCV000630456] Chr7:117602824 [GRCh38]
Chr7:117242878 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.3(CFTR):c.2909_2924dupGTGGGATTCTTAATAG duplication Cystic fibrosis [RCV000557902] Chr7:117606669..117606670 [GRCh38]
Chr7:117246723..117246724 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|uncertain significance
NM_000492.4(CFTR):c.3683A>G (p.Glu1228Gly) single nucleotide variant not specified [RCV003317757] Chr7:117627736 [GRCh38]
Chr7:117267790 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1709T>A (p.Leu570Ter) single nucleotide variant Cystic fibrosis [RCV003317762] Chr7:117590382 [GRCh38]
Chr7:117230436 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2373_2377delinsCC (p.Arg792_Lys793delinsGln) indel not specified [RCV003317764] Chr7:117592540..117592544 [GRCh38]
Chr7:117232594..117232598 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4399C>T (p.Leu1467=) single nucleotide variant Cystic fibrosis [RCV003311475] Chr7:117667064 [GRCh38]
Chr7:117307118 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.618G>A (p.Leu206=) single nucleotide variant Cystic fibrosis [RCV003311477] Chr7:117535286 [GRCh38]
Chr7:117175340 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.479T>C (p.Ile160Thr) single nucleotide variant Cystic fibrosis [RCV003311481] Chr7:117531104 [GRCh38]
Chr7:117171158 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.122C>G (p.Pro41Arg) single nucleotide variant Cystic fibrosis [RCV003311482] Chr7:117504321 [GRCh38]
Chr7:117144375 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.683G>A (p.Gly228Asp) single nucleotide variant Cystic fibrosis [RCV003311483] Chr7:117535351 [GRCh38]
Chr7:117175405 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.716G>A (p.Gly239Glu) single nucleotide variant Cystic fibrosis [RCV003311485] Chr7:117535384 [GRCh38]
Chr7:117175438 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3849G>A (p.Arg1283=) single nucleotide variant Cystic fibrosis [RCV003311486] Chr7:117642569 [GRCh38]
Chr7:117282623 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3065T>G (p.Val1022Gly) single nucleotide variant Cystic fibrosis [RCV003311488] Chr7:117610595 [GRCh38]
Chr7:117250649 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1915G>C (p.Asp639His) single nucleotide variant Cystic fibrosis [RCV003311489] Chr7:117592082 [GRCh38]
Chr7:117232136 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.386T>G (p.Leu129Arg) single nucleotide variant Cystic fibrosis [RCV003311491] Chr7:117531011 [GRCh38]
Chr7:117171065 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2454G>A (p.Leu818=) single nucleotide variant Cystic fibrosis [RCV003311493] Chr7:117592621 [GRCh38]
Chr7:117232675 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3595A>C (p.Lys1199Gln) single nucleotide variant Cystic fibrosis [RCV003311494] Chr7:117627648 [GRCh38]
Chr7:117267702 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3388G>A (p.Gly1130Ser) single nucleotide variant Cystic fibrosis [RCV003311496] Chr7:117614633 [GRCh38]
Chr7:117254687 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2094G>A (p.Lys698=) single nucleotide variant Cystic fibrosis [RCV003311497] Chr7:117592261 [GRCh38]
Chr7:117232315 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3367+3A>G single nucleotide variant Cystic fibrosis [RCV000668797] Chr7:117611811 [GRCh38]
Chr7:117251865 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.14:g.117675861C>T single nucleotide variant Cystic fibrosis [RCV000625819] Chr7:117675861 [GRCh38]
Chr7:117315915 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3468+2109T>C single nucleotide variant Cystic fibrosis [RCV001275775]|not provided [RCV000587511] Chr7:117616822 [GRCh38]
Chr7:117256876 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.3100C>T (p.Leu1034Phe) single nucleotide variant Cystic fibrosis [RCV002325130]|not provided [RCV000596563] Chr7:117610630 [GRCh38]
Chr7:117250684 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3908A>C (p.Asn1303Thr) single nucleotide variant Cystic fibrosis [RCV003302902]|not provided [RCV000586199] Chr7:117652876 [GRCh38]
Chr7:117292930 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.3(CFTR):c.-893_-891delTAT deletion Cystic fibrosis [RCV000673456] Chr7:117479200..117479202 [GRCh38]
Chr7:117119254..117119256 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1343T>C (p.Ile448Thr) single nucleotide variant Cystic fibrosis [RCV000630453]|not specified [RCV000781232] Chr7:117548774 [GRCh38]
Chr7:117188828 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3161A>T (p.His1054Leu) single nucleotide variant CFTR-related disorder [RCV001834984]|Cystic fibrosis [RCV000630455]|not specified [RCV003323645] Chr7:117611602 [GRCh38]
Chr7:117251656 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2255T>G (p.Ile752Ser) single nucleotide variant CFTR-related disorder [RCV001834987]|Cystic fibrosis [RCV000630459]|not provided [RCV001311301] Chr7:117592422 [GRCh38]
Chr7:117232476 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.489+10C>G single nucleotide variant CFTR-related disorder [RCV001163276]|Cystic fibrosis [RCV001478093] Chr7:117531124 [GRCh38]
Chr7:117171178 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NC_000007.14:g.(?_117530879)_(117559675_?)del deletion Cystic fibrosis [RCV000630472] Chr7:117530879..117559675 [GRCh38]
Chr7:117170933..117199729 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3717+6029A>G single nucleotide variant Cystic fibrosis [RCV003486381] Chr7:117633799 [GRCh38]
Chr7:117273853 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.53+3348G>A single nucleotide variant Cystic fibrosis [RCV003486382] Chr7:117483495 [GRCh38]
Chr7:117123549 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4186A>C (p.Thr1396Pro) single nucleotide variant CFTR-related disorder [RCV001835927]|Cystic fibrosis [RCV000700671] Chr7:117665508 [GRCh38]
Chr7:117305562 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1697C>A (p.Ala566Asp) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003472145]|Cystic fibrosis [RCV000672145] Chr7:117590370 [GRCh38]
Chr7:117230424 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance
NM_000492.4(CFTR):c.274-3T>C single nucleotide variant Cystic fibrosis [RCV000672160] Chr7:117530896 [GRCh38]
Chr7:117170950 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1912C>T (p.Pro638Ser) single nucleotide variant Cystic fibrosis [RCV000664600]|not provided [RCV003736874]|not specified [RCV005056403] Chr7:117592079 [GRCh38]
Chr7:117232133 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.445G>T (p.Gly149Ter) single nucleotide variant Cystic fibrosis [RCV000670963] Chr7:117531070 [GRCh38]
Chr7:117171124 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1117-31A>G single nucleotide variant CFTR-related disorder [RCV004544931]|Cystic fibrosis [RCV000672480] Chr7:117541985 [GRCh38]
Chr7:117182039 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1133A>G (p.Gln378Arg) single nucleotide variant CFTR-related disorder [RCV004535686]|Cystic fibrosis [RCV000672571]|not specified [RCV003323675] Chr7:117542032 [GRCh38]
Chr7:117182086 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1680-883A>G single nucleotide variant Cystic fibrosis [RCV000672576] Chr7:117589470 [GRCh38]
Chr7:117229524 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002507173]|CFTR-related disorder [RCV004735739]|Cystic fibrosis [RCV000671007]|not provided [RCV000732689]|not specified [RCV002265847] Chr7:117627538 [GRCh38]
Chr7:117267592 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2687C>T (p.Thr896Ile) single nucleotide variant Cystic fibrosis [RCV000671200]|not specified [RCV003403560] Chr7:117603561 [GRCh38]
Chr7:117243615 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly) single nucleotide variant Cystic fibrosis [RCV000671274]|not provided [RCV001509315]|not specified [RCV001002407] Chr7:117535410 [GRCh38]
Chr7:117175464 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.4035_4038dup (p.Ser1347fs) duplication Cystic fibrosis [RCV000664926] Chr7:117664758..117664759 [GRCh38]
Chr7:117304812..117304813 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.610G>A (p.Ala204Thr) single nucleotide variant Cystic fibrosis [RCV000671202]|not specified [RCV003317332] Chr7:117535278 [GRCh38]
Chr7:117175332 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.489+91A>G single nucleotide variant Cystic fibrosis [RCV000671311]|not provided [RCV001577580] Chr7:117531205 [GRCh38]
Chr7:117171259 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1758A>T (p.Ile586=) single nucleotide variant Cystic fibrosis [RCV001405557]|not provided [RCV000659087] Chr7:117590431 [GRCh38]
Chr7:117230485 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4364C>A (p.Ser1455Ter) single nucleotide variant Cystic fibrosis [RCV000671423] Chr7:117667029 [GRCh38]
Chr7:117307083 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.3(CFTR):c.1210-12T[5] deletion Bronchiectasis with or without elevated sweat chloride 1, modifier of [RCV000007610]|Congenital bilateral absence of vas deferens [RCV003483594]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV000007609]|Cystic fibrosis [RCV000173692]|Cystic fibrosis [RCV001009378]|Cystic fibrosis [RCV003330602]|Hereditary pancreatitis [RCV002243923]|Inborn genetic diseases [RCV001010359]|Obstructive azoospermia [RCV001706280]|not provided [RCV000405075]|not specified [RCV000155619] Chr7:117548629..117548630 [GRCh38]
Chr7:117188683 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|risk factor|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records|not provided
NM_000492.4(CFTR):c.4339del (p.Arg1446_Val1447insTer) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003465495]|Cystic fibrosis [RCV000670019] Chr7:117667002 [GRCh38]
Chr7:117307056 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.835G>T (p.Glu279Ter) single nucleotide variant Cystic fibrosis [RCV000670132] Chr7:117536639 [GRCh38]
Chr7:117176693 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3877G>A (p.Val1293Ile) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002477491]|CFTR-related disorder [RCV001835084]|Cystic fibrosis [RCV000667886]|not provided [RCV003478392]|not specified [RCV003403550] Chr7:117652845 [GRCh38]
Chr7:117292899 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1067G>C (p.Trp356Ser) single nucleotide variant Cystic fibrosis [RCV000670402]|not specified [RCV004768536] Chr7:117540297 [GRCh38]
Chr7:117180351 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.290T>C (p.Val97Ala) single nucleotide variant Cystic fibrosis [RCV000670404]|not provided [RCV003736883] Chr7:117530915 [GRCh38]
Chr7:117170969 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.870-1G>C single nucleotide variant Cystic fibrosis [RCV000670583]|Cystic fibrosis [RCV001004241] Chr7:117540099 [GRCh38]
Chr7:117180153 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1472G>T (p.Cys491Phe) single nucleotide variant Cystic fibrosis [RCV000671206]|not provided [RCV002261168]|not specified [RCV001002051] Chr7:117559543 [GRCh38]
Chr7:117199597 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3139+3A>G single nucleotide variant Cystic fibrosis [RCV000665379]|not specified [RCV003387903] Chr7:117610672 [GRCh38]
Chr7:117250726 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4291_4299del (p.Leu1431_Glu1433del) deletion Cystic fibrosis [RCV000674043] Chr7:117666955..117666963 [GRCh38]
Chr7:117307009..117307017 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1680-885T>C single nucleotide variant Cystic fibrosis [RCV000674053] Chr7:117589468 [GRCh38]
Chr7:117229522 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2908+3A>C single nucleotide variant Cystic fibrosis [RCV000668422] Chr7:117603785 [GRCh38]
Chr7:117243839 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2557A>T (p.Ile853Phe) single nucleotide variant CFTR-related disorder [RCV001829874]|Cystic fibrosis [RCV000672052]|Hereditary pancreatitis [RCV002257924]|not specified [RCV001553621] Chr7:117594996 [GRCh38]
Chr7:117235050 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2620-97C>T single nucleotide variant Cystic fibrosis [RCV000665665]|not provided [RCV003736877] Chr7:117602729 [GRCh38]
Chr7:117242783 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1950C>A (p.Phe650Leu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002493084]|CFTR-related disorder [RCV001829832]|Cystic fibrosis [RCV000665693]|not specified [RCV003479191] Chr7:117592117 [GRCh38]
Chr7:117232171 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.926C>T (p.Ala309Val) single nucleotide variant Cystic fibrosis [RCV000674316] Chr7:117540156 [GRCh38]
Chr7:117180210 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3368-19G>A single nucleotide variant Cystic fibrosis [RCV000668526] Chr7:117614594 [GRCh38]
Chr7:117254648 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4199del (p.Cys1400fs) deletion Cystic fibrosis [RCV000666949] Chr7:117665521 [GRCh38]
Chr7:117305575 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn) single nucleotide variant Cystic fibrosis [RCV000666972] Chr7:117664821 [GRCh38]
Chr7:117304875 [GRCh37]
Chr7:7q31.2
pathogenic|uncertain significance
NM_000492.4(CFTR):c.3873+1G>T single nucleotide variant Cystic fibrosis [RCV000667014]|not provided [RCV003480754] Chr7:117642594 [GRCh38]
Chr7:117282648 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1415dup (p.Met472fs) duplication Cystic fibrosis [RCV000672662] Chr7:117559485..117559486 [GRCh38]
Chr7:117199539..117199540 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.2566_2567insTAC (p.Val855_His856insLeu) insertion Cystic fibrosis [RCV000672984] Chr7:117595004..117595005 [GRCh38]
Chr7:117235058..117235059 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.870-5dup duplication Cystic fibrosis [RCV000673004] Chr7:117540089..117540090 [GRCh38]
Chr7:117180143..117180144 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.14:g.117479495dup duplication Cystic fibrosis [RCV000673201] Chr7:117479493..117479494 [GRCh38]
Chr7:117119547..117119548 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4064G>T (p.Cys1355Phe) single nucleotide variant CFTR-related disorder [RCV001830466]|Cystic fibrosis [RCV000674737]|not specified [RCV003479199] Chr7:117664788 [GRCh38]
Chr7:117304842 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.405_406dup (p.Leu136fs) microsatellite Cystic fibrosis [RCV000667127] Chr7:117531027..117531028 [GRCh38]
Chr7:117171081..117171082 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1245_1247del (p.Asn418del) deletion Cystic fibrosis [RCV000667152] Chr7:117548674..117548676 [GRCh38]
Chr7:117188728..117188730 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr) single nucleotide variant CFTR-related disorder [RCV001829842]|Cystic fibrosis [RCV000667171]|not provided [RCV000731055]|not specified [RCV001844212] Chr7:117548762 [GRCh38]
Chr7:117188816 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1584+4A>T single nucleotide variant Cystic fibrosis [RCV000664666] Chr7:117559659 [GRCh38]
Chr7:117199713 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2427AAG[1] (p.Arg811del) microsatellite Cystic fibrosis [RCV000664753] Chr7:117592594..117592596 [GRCh38]
Chr7:117232648..117232650 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro) single nucleotide variant CFTR-related disorder [RCV001835909]|Cystic fibrosis [RCV000669800]|not specified [RCV000780121] Chr7:117548800 [GRCh38]
Chr7:117188854 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1680-2dup duplication Cystic fibrosis [RCV000670098] Chr7:117590350..117590351 [GRCh38]
Chr7:117230404..117230405 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2909-8_2909-7insTAAT insertion Cystic fibrosis [RCV000670538] Chr7:117606664..117606665 [GRCh38]
Chr7:117246718..117246719 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1585G>A (p.Asp529Asn) single nucleotide variant Cystic fibrosis [RCV000667345] Chr7:117587739 [GRCh38]
Chr7:117227793 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3324del (p.Ile1109fs) deletion Cystic fibrosis [RCV000667426] Chr7:117611765 [GRCh38]
Chr7:117251819 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3963+2T>G single nucleotide variant Cystic fibrosis [RCV000670493] Chr7:117652933 [GRCh38]
Chr7:117292987 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3623G>A (p.Gly1208Asp) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005034236]|Cystic fibrosis [RCV000665155]|not provided [RCV002254303]|not specified [RCV004526737] Chr7:117627676 [GRCh38]
Chr7:117267730 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance
NM_000492.4(CFTR):c.4031G>C (p.Cys1344Ser) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002493081]|CFTR-related disorder [RCV001829831]|Cystic fibrosis [RCV000665288]|not specified [RCV000780147] Chr7:117664755 [GRCh38]
Chr7:117304809 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.926C>A (p.Ala309Asp) single nucleotide variant Cystic fibrosis [RCV000670461]|not specified [RCV004526744] Chr7:117540156 [GRCh38]
Chr7:117180210 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3874-26dup duplication Cystic fibrosis [RCV000670530] Chr7:117652813..117652814 [GRCh38]
Chr7:117292867..117292868 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2644_2645dup (p.Trp882fs) microsatellite Cystic fibrosis [RCV000673789]|Cystic fibrosis [RCV001004483] Chr7:117602847..117602848 [GRCh38]
Chr7:117242901..117242902 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3361ACA[1] (p.Thr1122del) microsatellite Cystic fibrosis [RCV000667596] Chr7:117611801..117611803 [GRCh38]
Chr7:117251855..117251857 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2822del (p.Leu941fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV002493108]|CFTR-related disorder [RCV001829871]|Cystic fibrosis [RCV000671794] Chr7:117603696 [GRCh38]
Chr7:117243750 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.819_824del (p.Lys273_Tyr275delinsAsn) deletion Cystic fibrosis [RCV000665553] Chr7:117536622..117536627 [GRCh38]
Chr7:117176676..117176681 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3709G>A (p.Gly1237Ser) single nucleotide variant Cystic fibrosis [RCV000674320] Chr7:117627762 [GRCh38]
Chr7:117267816 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.869+3A>T single nucleotide variant Cystic fibrosis [RCV000665947] Chr7:117536676 [GRCh38]
Chr7:117176730 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.4272C>A (p.Tyr1424Ter) single nucleotide variant Cystic fibrosis [RCV000670985] Chr7:117666937 [GRCh38]
Chr7:117306991 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1630G>A (p.Gly544Ser) single nucleotide variant CFTR-related disorder [RCV001829869]|Cystic fibrosis [RCV000671136]|not specified [RCV000780116] Chr7:117587784 [GRCh38]
Chr7:117227838 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2916_2952del (p.Ile972fs) deletion Cystic fibrosis [RCV000671213] Chr7:117606677..117606713 [GRCh38]
Chr7:117246731..117246767 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala) single nucleotide variant Cystic fibrosis [RCV000671291]|not specified [RCV003323672] Chr7:117592050 [GRCh38]
Chr7:117232104 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1543T>C (p.Tyr515His) single nucleotide variant Cystic fibrosis [RCV000665565]|not specified [RCV004525999] Chr7:117559614 [GRCh38]
Chr7:117199668 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.869+25A>G single nucleotide variant Cystic fibrosis [RCV000665571] Chr7:117536698 [GRCh38]
Chr7:117176752 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1209+80G>A single nucleotide variant Cystic fibrosis [RCV000665651]|Hereditary pancreatitis [RCV002257922] Chr7:117542188 [GRCh38]
Chr7:117182242 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.2908+19G>C single nucleotide variant Cystic fibrosis [RCV000665653]|not specified [RCV002265841] Chr7:117603801 [GRCh38]
Chr7:117243855 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1585-19T>C single nucleotide variant Cystic fibrosis [RCV000667656] Chr7:117587720 [GRCh38]
Chr7:117227774 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.4207A>G (p.Arg1403Gly) single nucleotide variant CFTR-related disorder [RCV001829872]|Cystic fibrosis [RCV000671812]|not specified [RCV003330893] Chr7:117665529 [GRCh38]
Chr7:117305583 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.490-26del deletion Cystic fibrosis [RCV000671856] Chr7:117534249 [GRCh38]
Chr7:117174303 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2620-26_2620-25insG insertion CFTR-related disorder [RCV001830453]|Cystic fibrosis [RCV000671859]|not specified [RCV001192429] Chr7:117602800..117602801 [GRCh38]
Chr7:117242854..117242855 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.3787A>G (p.Thr1263Ala) single nucleotide variant Cystic fibrosis [RCV000674404]|not specified [RCV004782507] Chr7:117642507 [GRCh38]
Chr7:117282561 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.-34C>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004796272]|Cystic fibrosis [RCV000667976]|not specified [RCV002282304] Chr7:117480061 [GRCh38]
Chr7:117120115 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1580A>G (p.Glu527Gly) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003472092]|Cystic fibrosis [RCV000667996]|Cystic fibrosis [RCV001004461]|not specified [RCV003117470] Chr7:117559651 [GRCh38]
Chr7:117199705 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance
NM_000492.4(CFTR):c.1680-1G>C single nucleotide variant Cystic fibrosis [RCV000664670] Chr7:117590352 [GRCh38]
Chr7:117230406 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1585-9T>C single nucleotide variant Cystic fibrosis [RCV000673579]|not specified [RCV004586873] Chr7:117587730 [GRCh38]
Chr7:117227784 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.-8GA[4] microsatellite Cystic fibrosis [RCV000672323] Chr7:117480086..117480087 [GRCh38]
Chr7:117120140..117120141 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.563T>C (p.Leu188Pro) single nucleotide variant Cystic fibrosis [RCV000666068]|not specified [RCV003987653] Chr7:117534349 [GRCh38]
Chr7:117174403 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2986dup (p.Gln996fs) duplication Cystic fibrosis [RCV000666274] Chr7:117606749..117606750 [GRCh38]
Chr7:117246803..117246804 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.869+5G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003472096]|CFTR-related disorder [RCV004535680]|Cystic fibrosis [RCV000668284]|not specified [RCV000781277] Chr7:117536678 [GRCh38]
Chr7:117176732 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.4243-2A>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003472099]|Cystic fibrosis [RCV000668313]|Cystic fibrosis [RCV001004308]|not provided [RCV004721538] Chr7:117666906 [GRCh38]
Chr7:117306960 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000492.4(CFTR):c.2395C>T (p.Gln799Ter) single nucleotide variant Cystic fibrosis [RCV000668339] Chr7:117592562 [GRCh38]
Chr7:117232616 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1584+11_1584+13dup duplication Cystic fibrosis [RCV000668454] Chr7:117559665..117559666 [GRCh38]
Chr7:117199719..117199720 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.489+25A>G single nucleotide variant Cystic fibrosis [RCV000668457] Chr7:117531139 [GRCh38]
Chr7:117171193 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.506dup (p.Ser169fs) duplication Cystic fibrosis [RCV000668461] Chr7:117534291..117534292 [GRCh38]
Chr7:117174345..117174346 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.2490+4_2490+6dup duplication Cystic fibrosis [RCV000665180] Chr7:117592660..117592661 [GRCh38]
Chr7:117232714..117232715 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1792A>G (p.Lys598Glu) single nucleotide variant Cystic fibrosis [RCV000665248] Chr7:117591959 [GRCh38]
Chr7:117232013 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2057C>A (p.Ser686Tyr) single nucleotide variant CFTR-related disorder [RCV001163687]|Cystic fibrosis [RCV000665258]|not provided [RCV003480750]|not specified [RCV000780141] Chr7:117592224 [GRCh38]
Chr7:117232278 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.489+87_489+88dup duplication Cystic fibrosis [RCV000673952] Chr7:117531200..117531201 [GRCh38]
Chr7:117171254..117171255 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4297G>T (p.Glu1433Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003472175]|Cystic fibrosis [RCV000674872]|Cystic fibrosis [RCV001004309] Chr7:117666962 [GRCh38]
Chr7:117307016 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.16C>G (p.Leu6Val) single nucleotide variant Cystic fibrosis [RCV000674389] Chr7:117480110 [GRCh38]
Chr7:117120164 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.657dup (p.Gln220fs) duplication Cystic fibrosis [RCV000674440] Chr7:117535324..117535325 [GRCh38]
Chr7:117175378..117175379 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.4297G>A (p.Glu1433Lys) single nucleotide variant CFTR-related disorder [RCV001830464]|Cystic fibrosis [RCV000674488]|not specified [RCV002282321] Chr7:117666962 [GRCh38]
Chr7:117307016 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1209+6A>G single nucleotide variant CFTR-related disorder [RCV001829878]|Cystic fibrosis [RCV000672482]|not specified [RCV001192459] Chr7:117542114 [GRCh38]
Chr7:117182168 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2988+1G>C single nucleotide variant Cystic fibrosis [RCV000674995] Chr7:117606754 [GRCh38]
Chr7:117246808 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1634G>T (p.Gly545Val) single nucleotide variant Cystic fibrosis [RCV000675025] Chr7:117587788 [GRCh38]
Chr7:117227842 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1352G>T (p.Gly451Val) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005034250]|Cystic fibrosis [RCV000669047]|not provided [RCV004702286]|not specified [RCV004702287] Chr7:117548783 [GRCh38]
Chr7:117188837 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance
NM_000492.4(CFTR):c.1766+2T>C single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004568572]|Cystic fibrosis [RCV000674906] Chr7:117590441 [GRCh38]
Chr7:117230495 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.2657+17C>T single nucleotide variant CFTR-related disorder [RCV004544932]|Cystic fibrosis [RCV000673000]|not provided [RCV000969714] Chr7:117602880 [GRCh38]
Chr7:117242934 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.3468+1G>A single nucleotide variant Cystic fibrosis [RCV000666552] Chr7:117614714 [GRCh38]
Chr7:117254768 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3061C>A (p.Pro1021Thr) single nucleotide variant Cystic fibrosis [RCV000665519]|not specified [RCV004702277] Chr7:117610591 [GRCh38]
Chr7:117250645 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003472180]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005046913]|Cystic fibrosis [RCV000675021]|not specified [RCV001193645] Chr7:117534344 [GRCh38]
Chr7:117174398 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.2907A>C (p.Ala969=) single nucleotide variant CFTR-related disorder [RCV004533460]|Cystic fibrosis [RCV000664492] Chr7:117603781 [GRCh38]
Chr7:117243835 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.167A>G (p.Glu56Gly) single nucleotide variant Cystic fibrosis [RCV000664513] Chr7:117509036 [GRCh38]
Chr7:117149090 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.244A>G (p.Met82Val) single nucleotide variant CFTR-related disorder [RCV001829880]|Cystic fibrosis [RCV000673216]|not specified [RCV004586871] Chr7:117509113 [GRCh38]
Chr7:117149167 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3468+6T>C single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002485518]|CFTR-related disorder [RCV001835066]|Cystic fibrosis [RCV000664596]|not specified [RCV001192463] Chr7:117614719 [GRCh38]
Chr7:117254773 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.14:g.117479421T>C single nucleotide variant Cystic fibrosis [RCV000665789] Chr7:117479421 [GRCh38]
Chr7:117119475 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.895G>A (p.Ala299Thr) single nucleotide variant Cystic fibrosis [RCV000664746] Chr7:117540125 [GRCh38]
Chr7:117180179 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.3(CFTR):c.-837T>C single nucleotide variant Cystic fibrosis [RCV000674802] Chr7:117479258 [GRCh38]
Chr7:117119312 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1907T>C (p.Leu636Pro) single nucleotide variant Cystic fibrosis [RCV000667114]|not specified [RCV004526739] Chr7:117592074 [GRCh38]
Chr7:117232128 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2475_2478dup (p.Glu827fs) duplication Bronchiectasis with or without elevated sweat chloride 1 [RCV003472086]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005046867]|Cystic fibrosis [RCV000667360] Chr7:117592639..117592640 [GRCh38]
Chr7:117232693..117232694 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.2044del (p.Thr682fs) deletion CFTR-related disorder [RCV001829843]|Cystic fibrosis [RCV000667367] Chr7:117592209 [GRCh38]
Chr7:117232263 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1766+2T>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002485561]|Bronchiectasis with or without elevated sweat chloride 1 [RCV004568556]|CFTR-related disorder [RCV001830459]|Cystic fibrosis [RCV000673591]|not provided [RCV000735037] Chr7:117590441 [GRCh38]
Chr7:117230495 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.505A>G (p.Ser169Gly) single nucleotide variant Cystic fibrosis [RCV000673734] Chr7:117534291 [GRCh38]
Chr7:117174345 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4252del (p.Glu1418fs) deletion Cystic fibrosis [RCV000673744] Chr7:117666917 [GRCh38]
Chr7:117306971 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3380G>A (p.Gly1127Glu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002499154]|CFTR-related disorder [RCV001829836]|Cystic fibrosis [RCV000666651]|not provided [RCV003736878]|not specified [RCV003317328] Chr7:117614625 [GRCh38]
Chr7:117254679 [GRCh37]
Chr7:7q31.2
uncertain significance
GRCh37/hg19 7q31.2-31.31(chr7:115520087-118098306)x1 copy number loss not provided [RCV000682899] Chr7:115520087..118098306 [GRCh37]
Chr7:7q31.2-31.31
likely pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
NM_000492.4(CFTR):c.1329_1350del (p.Asp443fs) deletion Cystic fibrosis [RCV000678263] Chr7:117548754..117548775 [GRCh38]
Chr7:117188808..117188829 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.2770G>C (p.Asp924His) single nucleotide variant CFTR-related disorder [RCV001830480]|Cystic fibrosis [RCV000685057]|not provided [RCV000762478] Chr7:117603644 [GRCh38]
Chr7:117243698 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.76A>G (p.Lys26Glu) single nucleotide variant CFTR-related disorder [RCV001830534]|Cystic fibrosis [RCV000698034]|not specified [RCV001527046] Chr7:117504275 [GRCh38]
Chr7:117144329 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3013A>G (p.Ile1005Val) single nucleotide variant Cystic fibrosis [RCV000691872] Chr7:117610543 [GRCh38]
Chr7:117250597 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2545T>A (p.Tyr849Asn) single nucleotide variant Cystic fibrosis [RCV000701445] Chr7:117594984 [GRCh38]
Chr7:117235038 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2974T>C (p.Phe992Leu) single nucleotide variant Cystic fibrosis [RCV000693866] Chr7:117606739 [GRCh38]
Chr7:117246793 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.14:g.(?_117530893)_(117559661_?)del deletion Cystic fibrosis [RCV000707790] Chr7:117530893..117559661 [GRCh38]
Chr7:117170947..117199715 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.256A>G (p.Ile86Val) single nucleotide variant CFTR-related disorder [RCV001830560]|Cystic fibrosis [RCV000705576] Chr7:117509125 [GRCh38]
Chr7:117149179 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4242+6T>C single nucleotide variant CFTR-related disorder [RCV001830562]|Cystic fibrosis [RCV000705792]|not specified [RCV004768594] Chr7:117665570 [GRCh38]
Chr7:117305624 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2627C>T (p.Ala876Val) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002493167]|CFTR-related disorder [RCV001829906]|Cystic fibrosis [RCV000689191]|not specified [RCV002265859] Chr7:117602833 [GRCh38]
Chr7:117242887 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4230C>G (p.Cys1410Trp) single nucleotide variant CFTR-related disorder [RCV001830543]|Cystic fibrosis [RCV000700040] Chr7:117665552 [GRCh38]
Chr7:117305606 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro) single nucleotide variant Cystic fibrosis [RCV000706337]|not specified [RCV003987675] Chr7:117531035 [GRCh38]
Chr7:117171089 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1217G>A (p.Gly406Glu) single nucleotide variant CFTR-related disorder [RCV001830500]|Cystic fibrosis [RCV000689713] Chr7:117548648 [GRCh38]
Chr7:117188702 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.613C>A (p.Pro205Thr) single nucleotide variant Cystic fibrosis [RCV000706499] Chr7:117535281 [GRCh38]
Chr7:117175335 [GRCh37]
Chr7:7q31.2
pathogenic|uncertain significance
NM_000492.4(CFTR):c.766A>G (p.Ser256Gly) single nucleotide variant CFTR-related disorder [RCV001830565]|Cystic fibrosis [RCV000706613] Chr7:117536570 [GRCh38]
Chr7:117176624 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.424A>G (p.Ile142Val) single nucleotide variant CFTR-related disorder [RCV001829909]|Cystic fibrosis [RCV000689946] Chr7:117531049 [GRCh38]
Chr7:117171103 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.925G>A (p.Ala309Thr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002493184]|CFTR-related disorder [RCV001835919]|Cystic fibrosis [RCV000693290]|not provided [RCV000759768]|not specified [RCV003235353] Chr7:117540155 [GRCh38]
Chr7:117180209 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.246G>A (p.Met82Ile) single nucleotide variant Cystic fibrosis [RCV000702476]|not specified [RCV004768591] Chr7:117509115 [GRCh38]
Chr7:117149169 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.634A>G (p.Met212Val) single nucleotide variant Cystic fibrosis [RCV000707376]|not provided [RCV002261197] Chr7:117535302 [GRCh38]
Chr7:117175356 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2354G>A (p.Arg785Gln) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002493202]|CFTR-related disorder [RCV001825362]|Cystic fibrosis [RCV000695653]|not provided [RCV003478423]|not specified [RCV000757080] Chr7:117592521 [GRCh38]
Chr7:117232575 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1691A>G (p.Lys564Arg) single nucleotide variant Cystic fibrosis [RCV000707684]|not provided [RCV001811456]|not specified [RCV001527039] Chr7:117590364 [GRCh38]
Chr7:117230418 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.13:g.(?_116339129)_(117144427_?)dup duplication Papillary renal cell carcinoma type 1 [RCV000707756] Chr7:116699075..117504373 [GRCh38]
Chr7:116339129..117144427 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3289C>T (p.Arg1097Cys) single nucleotide variant CFTR-related disorder [RCV004735752]|Cystic fibrosis [RCV001079628]|not provided [RCV000759038] Chr7:117611730 [GRCh38]
Chr7:117251784 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.3592G>A (p.Val1198Met) single nucleotide variant CFTR-related disorder [RCV001830521]|Cystic fibrosis [RCV000694053]|not provided [RCV001811447] Chr7:117627645 [GRCh38]
Chr7:117267699 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.14:g.(?_117504243)_(117509152_?)del deletion Cystic fibrosis [RCV000708406] Chr7:117504243..117509152 [GRCh38]
Chr7:117144297..117149206 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.4136+2T>G single nucleotide variant Cystic fibrosis [RCV000577694] Chr7:117664862 [GRCh38]
Chr7:117304916 [GRCh37]
Chr7:7q31.2
not provided
NM_000492.4(CFTR):c.179_180del (p.Glu60fs) microsatellite Cystic fibrosis [RCV001004230] Chr7:117509044..117509045 [GRCh38]
Chr7:117149098..117149099 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.253G>T (p.Gly85Ter) single nucleotide variant Cystic fibrosis [RCV001004233]|Cystic fibrosis [RCV002549236] Chr7:117509122 [GRCh38]
Chr7:117149176 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1588A>G (p.Ile530Val) single nucleotide variant Cystic fibrosis [RCV004607536] Chr7:117587742 [GRCh38]
Chr7:117227796 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1547_1548del (p.Arg516fs) deletion Hereditary pancreatitis [RCV002249345] Chr7:117559617..117559618 [GRCh38]
Chr7:117199671..117199672 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.2089del (p.Arg697fs) deletion Cystic fibrosis [RCV000757807] Chr7:117592251 [GRCh38]
Chr7:117232305 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.433del (p.Leu145fs) deletion Cystic fibrosis [RCV000757817] Chr7:117531057 [GRCh38]
Chr7:117171111 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.51del (p.Phe17fs) deletion Cystic fibrosis [RCV000757847]|not provided [RCV000757087] Chr7:117480145 [GRCh38]
Chr7:117120199 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2812dup (p.Val938fs) duplication Cystic fibrosis [RCV000757801] Chr7:117603684..117603685 [GRCh38]
Chr7:117243738..117243739 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3343dup (p.Thr1115fs) duplication Cystic fibrosis [RCV000757838] Chr7:117611783..117611784 [GRCh38]
Chr7:117251837..117251838 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.333G>A (p.Pro111=) single nucleotide variant Cystic fibrosis [RCV002320217]|not specified [RCV001001664] Chr7:117530958 [GRCh38]
Chr7:117171012 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.950T>A (p.Val317Glu) single nucleotide variant Cystic fibrosis [RCV000757786] Chr7:117540180 [GRCh38]
Chr7:117180234 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1505T>G (p.Ile502Ser) single nucleotide variant Cystic fibrosis [RCV000757790] Chr7:117559576 [GRCh38]
Chr7:117199630 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1525G>C (p.Gly509Arg) single nucleotide variant Cystic fibrosis [RCV000757791] Chr7:117559596 [GRCh38]
Chr7:117199650 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1654C>A (p.Gln552Lys) single nucleotide variant Cystic fibrosis [RCV000757794]|not specified [RCV004526767] Chr7:117587808 [GRCh38]
Chr7:117227862 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance
NM_000492.4(CFTR):c.3739G>A (p.Gly1247Arg) single nucleotide variant Cystic fibrosis [RCV000757796] Chr7:117642459 [GRCh38]
Chr7:117282513 [GRCh37]
Chr7:7q31.2
likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000492.4(CFTR):c.1084_1088dup (p.Ser364fs) duplication Cystic fibrosis [RCV000757804] Chr7:117540313..117540314 [GRCh38]
Chr7:117180367..117180368 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.4136+1G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004569422]|Cystic fibrosis [RCV000757809] Chr7:117664861 [GRCh38]
Chr7:117304915 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3110C>A (p.Ser1037Ter) single nucleotide variant Cystic fibrosis [RCV000757835] Chr7:117610640 [GRCh38]
Chr7:117250694 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3188G>A (p.Trp1063Ter) single nucleotide variant Cystic fibrosis [RCV000757836] Chr7:117611629 [GRCh38]
Chr7:117251683 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.869+1G>T single nucleotide variant Cystic fibrosis [RCV000757850] Chr7:117536674 [GRCh38]
Chr7:117176728 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3328TTC[1] (p.Phe1111del) microsatellite Cystic fibrosis [RCV000757855] Chr7:117611767..117611769 [GRCh38]
Chr7:117251821..117251823 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.676G>C (p.Gly226Arg) single nucleotide variant Cystic fibrosis [RCV000757877] Chr7:117535344 [GRCh38]
Chr7:117175398 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003472279]|Cystic fibrosis [RCV000757881]|Cystic fibrosis [RCV001004292] Chr7:117610637 [GRCh38]
Chr7:117250691 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.2335C>T (p.Gln779Ter) single nucleotide variant Cystic fibrosis [RCV001543674] Chr7:117592502 [GRCh38]
Chr7:117232556 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1584+3292A>G single nucleotide variant Cystic fibrosis [RCV001543682] Chr7:117562947 [GRCh38]
Chr7:117203001 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4242+5G>A single nucleotide variant Cystic fibrosis [RCV000757797]|not specified [RCV002282354] Chr7:117665569 [GRCh38]
Chr7:117305623 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance
NM_000492.4(CFTR):c.2051_2052dup (p.Gln685fs) duplication Cystic fibrosis [RCV000757806] Chr7:117592212..117592213 [GRCh38]
Chr7:117232266..117232267 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.274-2A>C single nucleotide variant CFTR-related disorder [RCV001825502]|Cystic fibrosis [RCV000757813] Chr7:117530897 [GRCh38]
Chr7:117170951 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1126C>T (p.Gln376Ter) single nucleotide variant Cystic fibrosis [RCV000757821] Chr7:117542025 [GRCh38]
Chr7:117182079 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3745G>C (p.Gly1249Arg) single nucleotide variant Cystic fibrosis [RCV000757851] Chr7:117642465 [GRCh38]
Chr7:117282519 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2375G>A (p.Arg792Gln) single nucleotide variant CFTR-related disorder [RCV004527773]|Cystic fibrosis [RCV000757862]|not specified [RCV001844234] Chr7:117592542 [GRCh38]
Chr7:117232596 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4061T>G (p.Met1354Arg) single nucleotide variant Cystic fibrosis [RCV000757871] Chr7:117664785 [GRCh38]
Chr7:117304839 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.449T>G (p.Met150Arg) single nucleotide variant Cystic fibrosis [RCV000757873] Chr7:117531074 [GRCh38]
Chr7:117171128 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003472278]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005036084]|CFTR-related disorder [RCV001835951]|Cystic fibrosis [RCV000757874]|Hereditary pancreatitis [RCV004576966]|not specified [RCV000781275] Chr7:117531098 [GRCh38]
Chr7:117171152 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.3011del (p.Ala1004fs) deletion Cystic fibrosis [RCV000757808] Chr7:117610541 [GRCh38]
Chr7:117250595 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3569_3570del (p.Val1190fs) deletion Cystic fibrosis [RCV000757840] Chr7:117627622..117627623 [GRCh38]
Chr7:117267676..117267677 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.560del (p.Asn187fs) deletion Cystic fibrosis [RCV000757848] Chr7:117534345 [GRCh38]
Chr7:117174399 [GRCh37]
Chr7:7q31.2
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000492.4(CFTR):c.1680-229A>C single nucleotide variant not provided [RCV001583007] Chr7:117590124 [GRCh38]
Chr7:117230178 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4136+237C>T single nucleotide variant not provided [RCV001610938] Chr7:117665097 [GRCh38]
Chr7:117305151 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.1767-136T>C single nucleotide variant CFTR-related disorder [RCV001832730]|Cystic fibrosis [RCV001532810]|not provided [RCV001712966]|not specified [RCV003235583] Chr7:117591798 [GRCh38]
Chr7:117231852 [GRCh37]
Chr7:7q31.2
benign|likely benign
NM_000492.4(CFTR):c.1210-13delinsTTT indel none provided [RCV001285583] Chr7:117548628 [GRCh38]
Chr7:117188682 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.2917C>T (p.Leu973Phe) single nucleotide variant Obstructive azoospermia [RCV001648515] Chr7:117606682 [GRCh38]
Chr7:117246736 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3468+33A>G single nucleotide variant not provided [RCV001813087] Chr7:117614746 [GRCh38]
Chr7:117254800 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.554C>A (p.Ser185Tyr) single nucleotide variant CFTR-related disorder [RCV001830085]|Cystic fibrosis [RCV003166618]|not provided [RCV001812505] Chr7:117534340 [GRCh38]
Chr7:117174394 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1983C>G (p.Ile661Met) single nucleotide variant CFTR-related disorder [RCV001835363]|Cystic fibrosis [RCV001871684]|not provided [RCV001812982] Chr7:117592150 [GRCh38]
Chr7:117232204 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.325T>C (p.Tyr109His) single nucleotide variant Cystic fibrosis [RCV000757788] Chr7:117530950 [GRCh38]
Chr7:117171004 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1550A>G (p.Tyr517Cys) single nucleotide variant Cystic fibrosis [RCV000757826] Chr7:117559621 [GRCh38]
Chr7:117199675 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3032T>G (p.Leu1011Ter) single nucleotide variant Cystic fibrosis [RCV000757834] Chr7:117610562 [GRCh38]
Chr7:117250616 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1317T>G (p.Pro439=) single nucleotide variant Cystic fibrosis [RCV000757858] Chr7:117548748 [GRCh38]
Chr7:117188802 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1548A>T (p.Arg516Ser) single nucleotide variant Cystic fibrosis [RCV000757860] Chr7:117559619 [GRCh38]
Chr7:117199673 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3114_3116dup (p.Gln1039dup) duplication Cystic fibrosis [RCV000757865] Chr7:117610641..117610642 [GRCh38]
Chr7:117250695..117250696 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3118C>T (p.Leu1040Phe) single nucleotide variant Cystic fibrosis [RCV000757866]|Hereditary pancreatitis [RCV002290003] Chr7:117610648 [GRCh38]
Chr7:117250702 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4277C>A (p.Ser1426Tyr) single nucleotide variant CFTR-related disorder [RCV001825503]|Cystic fibrosis [RCV000757872]|not provided [RCV001805838]|not specified [RCV001269211] Chr7:117666942 [GRCh38]
Chr7:117306996 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.488A>C (p.Lys163Thr) single nucleotide variant Cystic fibrosis [RCV000757875] Chr7:117531113 [GRCh38]
Chr7:117171167 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2879_2882del (p.Pro960fs) deletion Cystic fibrosis [RCV000757814] Chr7:117603753..117603756 [GRCh38]
Chr7:117243807..117243810 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3231_3232del (p.Phe1078fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003472277]|Cystic fibrosis [RCV000757837] Chr7:117611671..117611672 [GRCh38]
Chr7:117251725..117251726 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.4028del (p.Gly1343fs) deletion Cystic fibrosis [RCV000757845] Chr7:117664748 [GRCh38]
Chr7:117304802 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.866_870del (p.Arg289fs) deletion Cystic fibrosis [RCV000757849] Chr7:117536668..117536672 [GRCh38]
Chr7:117176722..117176726 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.646T>C (p.Trp216Arg) single nucleotide variant Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001580666]|Cystic fibrosis [RCV001580665] Chr7:117535314 [GRCh38]
Chr7:117175368 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.273+86T>G single nucleotide variant not provided [RCV001611924] Chr7:117509228 [GRCh38]
Chr7:117149282 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.930del (p.Phe311fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV005036239]|Cystic fibrosis [RCV000855424] Chr7:117540160 [GRCh38]
Chr7:117180214 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1391A>C (p.Lys464Thr) single nucleotide variant Cystic fibrosis [RCV000855425] Chr7:117548822 [GRCh38]
Chr7:117188876 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3139+199A>T single nucleotide variant not provided [RCV001583872] Chr7:117610868 [GRCh38]
Chr7:117250922 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.870-168A>G single nucleotide variant not provided [RCV001666631] Chr7:117539932 [GRCh38]
Chr7:117179986 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.1733_1734del (p.Leu578fs) deletion Cystic fibrosis [RCV000761422] Chr7:117590406..117590407 [GRCh38]
Chr7:117230460..117230461 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3796G>T (p.Glu1266Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003467573]|Cystic fibrosis [RCV001004508]|Cystic fibrosis [RCV003317413] Chr7:117642516 [GRCh38]
Chr7:117282570 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.2672A>G (p.Asp891Gly) single nucleotide variant CFTR-related disorder [RCV001830662]|Cystic fibrosis [RCV001248141]|Hereditary pancreatitis [RCV000761477]|not specified [RCV002469282] Chr7:117603546 [GRCh38]
Chr7:117243600 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.26C>T (p.Ala9Val) single nucleotide variant CFTR-related disorder [RCV001825489]|Cystic fibrosis [RCV001855866]|not provided [RCV000755917] Chr7:117480120 [GRCh38]
Chr7:117120174 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4182T>C (p.Asp1394=) single nucleotide variant Cystic fibrosis [RCV002067185]|not provided [RCV000755918] Chr7:117665504 [GRCh38]
Chr7:117305558 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1920_1921dup (p.Ser641fs) duplication CFTR-related disorder [RCV001827168]|Cystic fibrosis [RCV001004278]|Cystic fibrosis [RCV001280601] Chr7:117592086..117592087 [GRCh38]
Chr7:117232140..117232141 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.580-2A>C single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003465677]|Cystic fibrosis [RCV000757810] Chr7:117535246 [GRCh38]
Chr7:117175300 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1687T>C (p.Tyr563His) single nucleotide variant Cystic fibrosis [RCV000757828] Chr7:117590360 [GRCh38]
Chr7:117230414 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2476G>T (p.Glu826Ter) single nucleotide variant Cystic fibrosis [RCV000757831] Chr7:117592643 [GRCh38]
Chr7:117232697 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3367+1G>A single nucleotide variant Cystic fibrosis [RCV000757839] Chr7:117611809 [GRCh38]
Chr7:117251863 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1301C>A (p.Ser434Ter) single nucleotide variant Cystic fibrosis [RCV000757852]|Cystic fibrosis [RCV001004259] Chr7:117548732 [GRCh38]
Chr7:117188786 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1197del (p.Phe400fs) deletion Cystic fibrosis [RCV000757822] Chr7:117542095 [GRCh38]
Chr7:117182149 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1347_1350del (p.Arg450fs) deletion Cystic fibrosis [RCV002533831]|not provided [RCV000759750] Chr7:117548775..117548778 [GRCh38]
Chr7:117188829..117188832 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1392+42T>C single nucleotide variant not provided [RCV000759751] Chr7:117548865 [GRCh38]
Chr7:117188919 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1584+36A>G single nucleotide variant not provided [RCV000759755] Chr7:117559691 [GRCh38]
Chr7:117199745 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1585-9395C>G single nucleotide variant CFTR-related disorder [RCV004540084]|not provided [RCV000759757] Chr7:117578344 [GRCh38]
Chr7:117218398 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.2732G>C (p.Ser911Thr) single nucleotide variant not provided [RCV000759759] Chr7:117603606 [GRCh38]
Chr7:117243660 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2988+99T>C single nucleotide variant not provided [RCV000759762] Chr7:117606852 [GRCh38]
Chr7:117246906 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3139+42A>T single nucleotide variant Cystic fibrosis [RCV001009348]|not provided [RCV000759764] Chr7:117610711 [GRCh38]
Chr7:117250765 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.53+45A>G single nucleotide variant not provided [RCV000759765] Chr7:117480192 [GRCh38]
Chr7:117120246 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.744-32A>G single nucleotide variant not provided [RCV000759766] Chr7:117536516 [GRCh38]
Chr7:117176570 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.3(CFTR):c.870_1116del deletion not provided [RCV000759770] Chr7:117540098..117540344 [GRCh38]
Chr7:117180152..117180398 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1760T>C (p.Phe587Ser) single nucleotide variant Cystic fibrosis [RCV000757795] Chr7:117590433 [GRCh38]
Chr7:117230487 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys) single nucleotide variant Cystic fibrosis [RCV000757800]|Cystic fibrosis [RCV001004306] Chr7:117611735 [GRCh38]
Chr7:117251789 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1936G>T (p.Gly646Ter) single nucleotide variant Cystic fibrosis [RCV000757805] Chr7:117592103 [GRCh38]
Chr7:117232157 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2T>G (p.Met1Arg) single nucleotide variant Cystic fibrosis [RCV000757833] Chr7:117480096 [GRCh38]
Chr7:117120150 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2252G>A (p.Arg751His) single nucleotide variant Cystic fibrosis [RCV000757861] Chr7:117592419 [GRCh38]
Chr7:117232473 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3122A>G (p.Lys1041Arg) single nucleotide variant Cystic fibrosis [RCV000757867] Chr7:117610652 [GRCh38]
Chr7:117250706 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.503C>T (p.Ser168Leu) single nucleotide variant Cystic fibrosis [RCV000757876] Chr7:117534289 [GRCh38]
Chr7:117174343 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4400_*34del (p.Leu1467_Ter1481delinsXaa) deletion Cystic fibrosis [RCV000757798] Chr7:117667065..117667142 [GRCh38]
Chr7:117307119..117307196 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.4del (p.Gln2fs) deletion Cystic fibrosis [RCV000757818] Chr7:117480098 [GRCh38]
Chr7:117120152 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1115del (p.Gln372fs) deletion Cystic fibrosis [RCV000757819] Chr7:117540345 [GRCh38]
Chr7:117180399 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1530_1531del (p.Ser511fs) deletion Cystic fibrosis [RCV000757825] Chr7:117559600..117559601 [GRCh38]
Chr7:117199654..117199655 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.243del (p.Phe81fs) deletion Cystic fibrosis [RCV000757830] Chr7:117509110 [GRCh38]
Chr7:117149164 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.743+145G>A single nucleotide variant not provided [RCV001577073] Chr7:117535556 [GRCh38]
Chr7:117175610 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2068A>G (p.Thr690Ala) single nucleotide variant Cystic fibrosis [RCV001862687]|not provided [RCV001091000] Chr7:117592235 [GRCh38]
Chr7:117232289 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.682G>T (p.Gly228Cys) single nucleotide variant Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001580662]|Cystic fibrosis [RCV001580661] Chr7:117535350 [GRCh38]
Chr7:117175404 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.580-1G>C single nucleotide variant Cystic fibrosis [RCV004813426] Chr7:117535247 [GRCh38]
Chr7:117175301 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.869+88T>A single nucleotide variant not provided [RCV001547704] Chr7:117536761 [GRCh38]
Chr7:117176815 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.456G>A (p.Met152Ile) single nucleotide variant Cystic fibrosis [RCV000790436]|not specified [RCV004702419] Chr7:117531081 [GRCh38]
Chr7:117171135 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1409T>A (p.Val470Glu) single nucleotide variant Cystic fibrosis [RCV001647279] Chr7:117559480 [GRCh38]
Chr7:117199534 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.*692T>A single nucleotide variant CFTR-related disorder [RCV001163905] Chr7:117667800 [GRCh38]
Chr7:117307854 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.147A>G (p.Leu49=) single nucleotide variant CFTR-related disorder [RCV001027901]|Cystic fibrosis [RCV000952252] Chr7:117504346 [GRCh38]
Chr7:117144400 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.1287C>T (p.Phe429=) single nucleotide variant Cystic fibrosis [RCV001480460]|not specified [RCV003489981] Chr7:117548718 [GRCh38]
Chr7:117188772 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2001C>T (p.His667=) single nucleotide variant Cystic fibrosis [RCV000953954] Chr7:117592168 [GRCh38]
Chr7:117232222 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.15T>C (p.Pro5=) single nucleotide variant Cystic fibrosis [RCV000972026] Chr7:117480109 [GRCh38]
Chr7:117120163 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3330C>T (p.Phe1110=) single nucleotide variant Cystic fibrosis [RCV001406065] Chr7:117611771 [GRCh38]
Chr7:117251825 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.475T>C (p.Leu159=) single nucleotide variant Cystic fibrosis [RCV000916335] Chr7:117531100 [GRCh38]
Chr7:117171154 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.510T>A (p.Arg170=) single nucleotide variant Cystic fibrosis [RCV001442047]|not specified [RCV002222641] Chr7:117534296 [GRCh38]
Chr7:117174350 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2253C>T (p.Arg751=) single nucleotide variant Cystic fibrosis [RCV001432859] Chr7:117592420 [GRCh38]
Chr7:117232474 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1707T>C (p.Tyr569=) single nucleotide variant CFTR-related disorder [RCV001827090]|Cystic fibrosis [RCV001410038] Chr7:117590380 [GRCh38]
Chr7:117230434 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2109T>C (p.Asn703=) single nucleotide variant Cystic fibrosis [RCV001496771] Chr7:117592276 [GRCh38]
Chr7:117232330 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2505T>C (p.Asp835=) single nucleotide variant CFTR-related disorder [RCV004735833]|Cystic fibrosis [RCV000863736]|not specified [RCV004586964] Chr7:117594944 [GRCh38]
Chr7:117234998 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3306A>G (p.Arg1102=) single nucleotide variant CFTR-related disorder [RCV004538211]|Cystic fibrosis [RCV000863933]|not provided [RCV001811516]|not specified [RCV003987726] Chr7:117611747 [GRCh38]
Chr7:117251801 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3591C>T (p.His1197=) single nucleotide variant Cystic fibrosis [RCV000866012]|not provided [RCV003478533] Chr7:117627644 [GRCh38]
Chr7:117267698 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.285A>G (p.Lys95=) single nucleotide variant Cystic fibrosis [RCV000981575] Chr7:117530910 [GRCh38]
Chr7:117170964 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1830A>T (p.Leu610Phe) single nucleotide variant Cystic fibrosis [RCV000866930] Chr7:117591997 [GRCh38]
Chr7:117232051 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity
NM_000492.4(CFTR):c.3918C>G (p.Pro1306=) single nucleotide variant CFTR-related disorder [RCV004538264]|Cystic fibrosis [RCV000868050] Chr7:117652886 [GRCh38]
Chr7:117292940 [GRCh37]
Chr7:7q31.2
benign|likely benign
NM_000492.4(CFTR):c.1746A>C (p.Thr582=) single nucleotide variant CFTR-related disorder [RCV001830901]|Cystic fibrosis [RCV001408141] Chr7:117590419 [GRCh38]
Chr7:117230473 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2139T>C (p.Ile713=) single nucleotide variant Cystic fibrosis [RCV001479125] Chr7:117592306 [GRCh38]
Chr7:117232360 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1047G>T (p.Ala349=) single nucleotide variant CFTR-related disorder [RCV001826945]|Cystic fibrosis [RCV001423887] Chr7:117540277 [GRCh38]
Chr7:117180331 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1209+7A>T single nucleotide variant Cystic fibrosis [RCV001272207]|not provided [RCV000869991]|not specified [RCV003230601] Chr7:117542115 [GRCh38]
Chr7:117182169 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1176A>G (p.Val392=) single nucleotide variant CFTR-related disorder [RCV001835994]|Cystic fibrosis [RCV001440296]|not specified [RCV001420938] Chr7:117542075 [GRCh38]
Chr7:117182129 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1560C>T (p.Val520=) single nucleotide variant Cystic fibrosis [RCV001451961] Chr7:117559631 [GRCh38]
Chr7:117199685 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3718-2476G>A single nucleotide variant Cystic fibrosis [RCV000870174] Chr7:117639962 [GRCh38]
Chr7:117280016 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1932C>G (p.Leu644=) single nucleotide variant Cystic fibrosis [RCV000870235] Chr7:117592099 [GRCh38]
Chr7:117232153 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.594A>C (p.Ala198=) single nucleotide variant Cystic fibrosis [RCV001477235] Chr7:117535262 [GRCh38]
Chr7:117175316 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3783G>T (p.Leu1261=) single nucleotide variant Cystic fibrosis [RCV000871290]|not specified [RCV002271593] Chr7:117642503 [GRCh38]
Chr7:117282557 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.274-8T>C single nucleotide variant Cystic fibrosis [RCV000871761]|not provided [RCV003424411] Chr7:117530891 [GRCh38]
Chr7:117170945 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1766+8C>G single nucleotide variant Cystic fibrosis [RCV001456796] Chr7:117590447 [GRCh38]
Chr7:117230501 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.423C>T (p.Ala141=) single nucleotide variant Cystic fibrosis [RCV001460013] Chr7:117531048 [GRCh38]
Chr7:117171102 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4236A>G (p.Gln1412=) single nucleotide variant CFTR-related disorder [RCV004735849]|Cystic fibrosis [RCV000874036]|not provided [RCV004707449]|not specified [RCV001420783] Chr7:117665558 [GRCh38]
Chr7:117305612 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1092T>A (p.Ser364=) single nucleotide variant Cystic fibrosis [RCV001397912] Chr7:117540322 [GRCh38]
Chr7:117180376 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2373A>G (p.Thr791=) single nucleotide variant CFTR-related disorder [RCV001825765]|Cystic fibrosis [RCV000874207] Chr7:117592540 [GRCh38]
Chr7:117232594 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2909-6T>C single nucleotide variant Cystic fibrosis [RCV000874461]|not specified [RCV003987732] Chr7:117606668 [GRCh38]
Chr7:117246722 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.417C>T (p.His139=) single nucleotide variant CFTR-related disorder [RCV001163273]|Cystic fibrosis [RCV000874811] Chr7:117531042 [GRCh38]
Chr7:117171096 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.580-9A>G single nucleotide variant Cystic fibrosis [RCV000875874] Chr7:117535239 [GRCh38]
Chr7:117175293 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1587C>T (p.Asp529=) single nucleotide variant Cystic fibrosis [RCV001273209] Chr7:117587741 [GRCh38]
Chr7:117227795 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.2460A>T (p.Ile820=) single nucleotide variant CFTR-related disorder [RCV004530874]|Cystic fibrosis [RCV000877674] Chr7:117592627 [GRCh38]
Chr7:117232681 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3160C>T (p.His1054Tyr) single nucleotide variant Cystic fibrosis [RCV001056407] Chr7:117611601 [GRCh38]
Chr7:117251655 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3449G>C (p.Ser1150Thr) single nucleotide variant Cystic fibrosis [RCV001058294] Chr7:117614694 [GRCh38]
Chr7:117254748 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4237T>C (p.Phe1413Leu) single nucleotide variant CFTR-related disorder [RCV001827365]|Cystic fibrosis [RCV001058351]|not specified [RCV001201223] Chr7:117665559 [GRCh38]
Chr7:117305613 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3404T>A (p.Leu1135Ter) single nucleotide variant Cystic fibrosis [RCV001058685] Chr7:117614649 [GRCh38]
Chr7:117254703 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3991T>A (p.Phe1331Ile) single nucleotide variant Cystic fibrosis [RCV001036913] Chr7:117664715 [GRCh38]
Chr7:117304769 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.977C>T (p.Ala326Val) single nucleotide variant CFTR-related disorder [RCV001827199]|Cystic fibrosis [RCV002434400] Chr7:117540207 [GRCh38]
Chr7:117180261 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4312del (p.Arg1438fs) deletion Cystic fibrosis [RCV003239286] Chr7:117666976 [GRCh38]
Chr7:117307030 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3315G>T (p.Met1105Ile) single nucleotide variant CFTR-related disorder [RCV001827229]|Cystic fibrosis [RCV001038825] Chr7:117611756 [GRCh38]
Chr7:117251810 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003472280]|CFTR-related disorder [RCV002233757]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001592944]|Cystic fibrosis [RCV000803536]|not provided [RCV000759033] Chr7:117590397 [GRCh38]
Chr7:117230451 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.3934G>T (p.Asp1312Tyr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002481894]|Cystic fibrosis [RCV001042257] Chr7:117652902 [GRCh38]
Chr7:117292956 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.875A>G (p.Glu292Gly) single nucleotide variant Cystic fibrosis [RCV001061294] Chr7:117540105 [GRCh38]
Chr7:117180159 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4368C>G (p.Ser1456Arg) single nucleotide variant Cystic fibrosis [RCV001064207]|not specified [RCV004782635] Chr7:117667033 [GRCh38]
Chr7:117307087 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3468+1G>T single nucleotide variant Cystic fibrosis [RCV001069654] Chr7:117614714 [GRCh38]
Chr7:117254768 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.407T>C (p.Leu136Pro) single nucleotide variant Cystic fibrosis [RCV001047415] Chr7:117531032 [GRCh38]
Chr7:117171086 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.165-2del deletion Cystic fibrosis [RCV001048093] Chr7:117509032 [GRCh38]
Chr7:117149086 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2052A>T (p.Lys684Asn) single nucleotide variant Cystic fibrosis [RCV001070987] Chr7:117592219 [GRCh38]
Chr7:117232273 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1153T>C (p.Tyr385His) single nucleotide variant Cystic fibrosis [RCV001071895] Chr7:117542052 [GRCh38]
Chr7:117182106 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1116+31A>G single nucleotide variant not provided [RCV000985670] Chr7:117540377 [GRCh38]
Chr7:117180431 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1209+28C>T single nucleotide variant CFTR-related disorder [RCV004544986]|not provided [RCV000985672] Chr7:117542136 [GRCh38]
Chr7:117182190 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.1275T>C (p.Asp425=) single nucleotide variant Cystic fibrosis [RCV002067569]|not provided [RCV000985674] Chr7:117548706 [GRCh38]
Chr7:117188760 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.2683A>G (p.Ser895Gly) single nucleotide variant Cystic fibrosis [RCV001066117] Chr7:117603557 [GRCh38]
Chr7:117243611 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.117A>C (p.Gln39His) single nucleotide variant CFTR-related disorder [RCV001827430]|Cystic fibrosis [RCV001066717] Chr7:117504316 [GRCh38]
Chr7:117144370 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.14:g.(?_117606659)_(117606786_?)del deletion Cystic fibrosis [RCV001031792] Chr7:117246713..117246840 [GRCh37]
Chr7:7q31.2
pathogenic
NC_000007.14:g.(?_117478787)_(117480271_?)del deletion Cystic fibrosis [RCV001032284] Chr7:117118841..117120325 [GRCh37]
Chr7:7q31.2
pathogenic
NC_000007.14:g.(?_117602729)_(117611828_?)del deletion Cystic fibrosis [RCV001032636] Chr7:117242783..117251882 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1981A>G (p.Ile661Val) single nucleotide variant CFTR-related disorder [RCV001832473]|Cystic fibrosis [RCV001051676] Chr7:117592148 [GRCh38]
Chr7:117232202 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.413T>C (p.Leu138Pro) single nucleotide variant CFTR-related disorder [RCV001832481]|Cystic fibrosis [RCV001052278]|not provided [RCV003478678] Chr7:117531038 [GRCh38]
Chr7:117171092 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1377C>T (p.Ser459=) single nucleotide variant Cystic fibrosis [RCV004030101]|not provided [RCV000985675] Chr7:117548808 [GRCh38]
Chr7:117188862 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.1585-9449C>A single nucleotide variant not provided [RCV000985677] Chr7:117578290 [GRCh38]
Chr7:117218344 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.1618G>A (p.Val540Ile) single nucleotide variant Cystic fibrosis [RCV002400159]|not provided [RCV000985678] Chr7:117587772 [GRCh38]
Chr7:117227826 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2305G>A (p.Val769Ile) single nucleotide variant Cystic fibrosis [RCV001858626]|not provided [RCV000985683]|not specified [RCV004800650] Chr7:117592472 [GRCh38]
Chr7:117232526 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.14:g.117479839G>A single nucleotide variant CFTR-related disorder [RCV004544987]|not provided [RCV000985684] Chr7:117479839 [GRCh38]
Chr7:117119893 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.3040_3042del (p.Tyr1014del) deletion not provided [RCV000985687] Chr7:117610569..117610571 [GRCh38]
Chr7:117250623..117250625 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3319T>C (p.Phe1107Leu) single nucleotide variant CFTR-related disorder [RCV001832299]|Cystic fibrosis [RCV001004495]|Cystic fibrosis [RCV001048194]|not provided [RCV000985689]|not specified [RCV004689941] Chr7:117611760 [GRCh38]
Chr7:117251814 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance
NM_000492.4(CFTR):c.3367+45T>C single nucleotide variant not provided [RCV000985690] Chr7:117611853 [GRCh38]
Chr7:117251907 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.449T>A (p.Met150Lys) single nucleotide variant Cystic fibrosis [RCV002284450]|not provided [RCV000985695] Chr7:117531074 [GRCh38]
Chr7:117171128 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.579+1G>A single nucleotide variant Cystic fibrosis [RCV003989613]|not provided [RCV000985696] Chr7:117534366 [GRCh38]
Chr7:117174420 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.674G>A (p.Cys225Tyr) single nucleotide variant Cystic fibrosis [RCV002372706]|not provided [RCV000985697]|not specified [RCV003323774] Chr7:117535342 [GRCh38]
Chr7:117175396 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.892A>T (p.Lys298Ter) single nucleotide variant Cystic fibrosis [RCV001062588]|not provided [RCV000985698] Chr7:117540122 [GRCh38]
Chr7:117180176 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3494A>C (p.Lys1165Thr) single nucleotide variant Cystic fibrosis [RCV001067922] Chr7:117627547 [GRCh38]
Chr7:117267601 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.14:g.(?_117602793)_(117611818_?)del deletion Cystic fibrosis [RCV001033444] Chr7:117242847..117251872 [GRCh37]
Chr7:7q31.2
pathogenic
NC_000007.14:g.(?_117610499)_(117611828_?)del deletion Cystic fibrosis [RCV004583438] Chr7:117250553..117251882 [GRCh37]
Chr7:7q31.2
pathogenic
NC_000007.14:g.(?_117614593)_(117614733_?)del deletion Cystic fibrosis [RCV001033730] Chr7:117254647..117254787 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.863T>G (p.Leu288Ter) single nucleotide variant Cystic fibrosis [RCV000987958] Chr7:117536667 [GRCh38]
Chr7:117176721 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1210-11_1210-10insG insertion Bronchiectasis with or without elevated sweat chloride 1 [RCV004796337]|Cystic fibrosis [RCV000987960] Chr7:117548630..117548631 [GRCh38]
Chr7:117188684..117188685 [GRCh37]
Chr7:7q31.2
pathogenic|conflicting interpretations of pathogenicity
NM_000492.4(CFTR):c.1279A>C (p.Ser427Arg) single nucleotide variant Cystic fibrosis [RCV000987961] Chr7:117548710 [GRCh38]
Chr7:117188764 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1486del (p.Trp496fs) deletion Cystic fibrosis [RCV000987962] Chr7:117559557 [GRCh38]
Chr7:117199611 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3134C>T (p.Ser1045Phe) single nucleotide variant Cystic fibrosis [RCV000987965] Chr7:117610664 [GRCh38]
Chr7:117250718 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4225G>T (p.Glu1409Ter) single nucleotide variant Cystic fibrosis [RCV000987966] Chr7:117665547 [GRCh38]
Chr7:117305601 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.4389del (p.Ile1464fs) deletion Cystic fibrosis [RCV000987968] Chr7:117667054 [GRCh38]
Chr7:117307108 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3452T>A (p.Ile1151Lys) single nucleotide variant Cystic fibrosis [RCV000810218] Chr7:117614697 [GRCh38]
Chr7:117254751 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4243-16A>G single nucleotide variant CFTR-related disorder [RCV004540097]|Cystic fibrosis [RCV002536862]|not provided [RCV003736905]|not specified [RCV000780110] Chr7:117666892 [GRCh38]
Chr7:117306946 [GRCh37]
Chr7:7q31.2
benign|likely benign|uncertain significance
NM_000492.4(CFTR):c.1492A>G (p.Met498Val) single nucleotide variant CFTR-related disorder [RCV001825521]|Cystic fibrosis [RCV001785723]|not provided [RCV001283966]|not specified [RCV000780114] Chr7:117559563 [GRCh38]
Chr7:117199617 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4137-9C>T single nucleotide variant not specified [RCV000780117] Chr7:117665450 [GRCh38]
Chr7:117305504 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1979C>G (p.Ser660Ter) single nucleotide variant Cystic fibrosis [RCV000780129] Chr7:117592146 [GRCh38]
Chr7:117232200 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.869+8G>T single nucleotide variant Cystic fibrosis [RCV001272233]|not specified [RCV000780131] Chr7:117536681 [GRCh38]
Chr7:117176735 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.4096A>T (p.Ile1366Phe) single nucleotide variant CFTR-related disorder [RCV001825522]|Cystic fibrosis [RCV002325481]|not specified [RCV000780133] Chr7:117664820 [GRCh38]
Chr7:117304874 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4307_4320del (p.Leu1436fs) deletion not specified [RCV000780136] Chr7:117666968..117666981 [GRCh38]
Chr7:117307022..117307035 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.490A>G (p.Thr164Ala) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002477783]|CFTR-related disorder [RCV001163277]|Cystic fibrosis [RCV000802964]|not provided [RCV001509312]|not specified [RCV000780137] Chr7:117534276 [GRCh38]
Chr7:117174330 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3367+214_3367+259del deletion not specified [RCV000780142] Chr7:117612009..117612054 [GRCh38]
Chr7:117252063..117252108 [GRCh37]
Chr7:7q31.2
benign|uncertain significance
NM_000492.4(CFTR):c.1177G>C (p.Val393Leu) single nucleotide variant CFTR-related disorder [RCV001825524]|Cystic fibrosis [RCV003166069]|not specified [RCV000780145] Chr7:117542076 [GRCh38]
Chr7:117182130 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3356T>C (p.Ile1119Thr) single nucleotide variant CFTR-related disorder [RCV001830670]|not specified [RCV000780146] Chr7:117611797 [GRCh38]
Chr7:117251851 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3577A>G (p.Ile1193Val) single nucleotide variant not specified [RCV000780161] Chr7:117627630 [GRCh38]
Chr7:117267684 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2402A>G (p.Asn801Ser) single nucleotide variant Cystic fibrosis [RCV004609520]|not specified [RCV000780163] Chr7:117592569 [GRCh38]
Chr7:117232623 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.947T>A (p.Phe316Tyr) single nucleotide variant not specified [RCV000780168] Chr7:117540177 [GRCh38]
Chr7:117180231 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2988+1G>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005036112]|Cystic fibrosis [RCV002535668]|not specified [RCV000780170] Chr7:117606754 [GRCh38]
Chr7:117246808 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3325A>G (p.Ile1109Val) single nucleotide variant CFTR-related disorder [RCV001825525]|Cystic fibrosis [RCV002536863]|not specified [RCV000780172] Chr7:117611766 [GRCh38]
Chr7:117251820 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1311T>C (p.Gly437=) single nucleotide variant Cystic fibrosis [RCV001272209]|not specified [RCV000780174] Chr7:117548742 [GRCh38]
Chr7:117188796 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.1116G>T (p.Gln372His) single nucleotide variant Cystic fibrosis [RCV000790623] Chr7:117540346 [GRCh38]
Chr7:117180400 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.3(CFTR):c.(1341+1_1342-1)_(1716+1_1717-1)del deletion Cystic fibrosis [RCV000785758] Chr7:117548642..117559656 [GRCh38]
Chr7:117188695..117199709 [GRCh37]
Chr7:7q31.2
likely pathogenic
NC_000007.14:g.117664688_117667108del deletion Cystic fibrosis [RCV000785767] Chr7:117664686..117667106 [GRCh38]
Chr7:117304742..117307162 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1943del (p.Asp648fs) deletion Cystic fibrosis [RCV000785629] Chr7:117592110 [GRCh38]
Chr7:117232164 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.165-67A>C single nucleotide variant not provided [RCV000759028] Chr7:117508967 [GRCh38]
Chr7:117149021 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2380G>A (p.Val794Met) single nucleotide variant CFTR-related disorder [RCV004527774]|not provided [RCV000759036] Chr7:117592547 [GRCh38]
Chr7:117232601 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.914T>G (p.Phe305Cys) single nucleotide variant Cystic fibrosis [RCV001273245]|not specified [RCV000781230] Chr7:117540144 [GRCh38]
Chr7:117180198 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3367+246C>T single nucleotide variant not provided [RCV004707410]|not specified [RCV000781231] Chr7:117612054 [GRCh38]
Chr7:117252108 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2988+47dup duplication not specified [RCV000781244] Chr7:117606793..117606794 [GRCh38]
Chr7:117246847..117246848 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1679+18G>T single nucleotide variant Cystic fibrosis [RCV002535691]|not specified [RCV000781250] Chr7:117587851 [GRCh38]
Chr7:117227905 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.2733T>G (p.Ser911Arg) single nucleotide variant not specified [RCV000781253] Chr7:117603607 [GRCh38]
Chr7:117243661 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4293G>A (p.Leu1431=) single nucleotide variant not specified [RCV000781261] Chr7:117666958 [GRCh38]
Chr7:117307012 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.274-13T>C single nucleotide variant Cystic fibrosis [RCV002440618]|not specified [RCV000781264] Chr7:117530886 [GRCh38]
Chr7:117170940 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.773G>T (p.Arg258Ile) single nucleotide variant Cystic fibrosis [RCV001272232]|not specified [RCV000781274] Chr7:117536577 [GRCh38]
Chr7:117176631 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2280G>A (p.Thr760=) single nucleotide variant Cystic fibrosis [RCV001411256]|not specified [RCV000781288] Chr7:117592447 [GRCh38]
Chr7:117232501 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.2766A>G (p.Val922=) single nucleotide variant Cystic fibrosis [RCV000871045]|not provided [RCV003117572]|not specified [RCV000781292] Chr7:117603640 [GRCh38]
Chr7:117243694 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.575A>T (p.Asp192Val) single nucleotide variant Cystic fibrosis [RCV001257125]|not specified [RCV000781293] Chr7:117534361 [GRCh38]
Chr7:117174415 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2291G>A (p.Arg764Gln) single nucleotide variant CFTR-related disorder [RCV001835955]|Cystic fibrosis [RCV002442601]|not specified [RCV000780135] Chr7:117592458 [GRCh38]
Chr7:117232512 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.53+34_53+35del microsatellite not specified [RCV000781225] Chr7:117480179..117480180 [GRCh38]
Chr7:117120233..117120234 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3682G>A (p.Glu1228Lys) single nucleotide variant CFTR-related disorder [RCV001825530]|not specified [RCV000781284] Chr7:117627735 [GRCh38]
Chr7:117267789 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2908+1085_3367+260del deletion Cystic fibrosis [RCV000851288] Chr7:117604867..117612068 [GRCh38]
Chr7:117244921..117252122 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2573del (p.Ser858fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003472317]|CFTR-related disorder [RCV001825531]|Cystic fibrosis [RCV003323722] Chr7:117595012 [GRCh38]
Chr7:117235066 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.2028T>C (p.Pro676=) single nucleotide variant Cystic fibrosis [RCV001501460] Chr7:117592195 [GRCh38]
Chr7:117232249 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2301G>A (p.Gln767=) single nucleotide variant Cystic fibrosis [RCV001395817] Chr7:117592468 [GRCh38]
Chr7:117232522 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3874-7G>A single nucleotide variant Cystic fibrosis [RCV000951883] Chr7:117652835 [GRCh38]
Chr7:117292889 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.120C>T (p.Ile40=) single nucleotide variant CFTR-related disorder [RCV004543627]|Cystic fibrosis [RCV000969713]|not provided [RCV002479131] Chr7:117504319 [GRCh38]
Chr7:117144373 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2313C>T (p.Asn771=) single nucleotide variant CFTR-related disorder [RCV001830921]|Cystic fibrosis [RCV000874894] Chr7:117592480 [GRCh38]
Chr7:117232534 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.192G>A (p.Lys64=) single nucleotide variant Cystic fibrosis [RCV001470599] Chr7:117509061 [GRCh38]
Chr7:117149115 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3873+10A>G single nucleotide variant Cystic fibrosis [RCV001472903] Chr7:117642603 [GRCh38]
Chr7:117282657 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4026G>C (p.Gly1342=) single nucleotide variant Cystic fibrosis [RCV001455613] Chr7:117664750 [GRCh38]
Chr7:117304804 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2082G>A (p.Gly694=) single nucleotide variant Cystic fibrosis [RCV001498486] Chr7:117592249 [GRCh38]
Chr7:117232303 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.917A>G (p.Asn306Ser) single nucleotide variant CFTR-related disorder [RCV001827196]|Cystic fibrosis [RCV002400181] Chr7:117540147 [GRCh38]
Chr7:117180201 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1517T>A (p.Ile506Asn) single nucleotide variant Cystic fibrosis [RCV002284519] Chr7:117559588 [GRCh38]
Chr7:117199642 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1949del (p.Phe650fs) deletion Cystic fibrosis [RCV002284532] Chr7:117592114 [GRCh38]
Chr7:117232168 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3180del (p.Gly1061fs) deletion Cystic fibrosis [RCV002284540] Chr7:117611618 [GRCh38]
Chr7:117251672 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3322_3323del (p.Val1108fs) deletion Cystic fibrosis [RCV002284541] Chr7:117611762..117611763 [GRCh38]
Chr7:117251816..117251817 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4:c.(?_-1)_(*1_?)del deletion Cystic fibrosis [RCV002284563]   pathogenic
NM_000492.4(CFTR):c.3793G>A (p.Gly1265Arg) single nucleotide variant Cystic fibrosis [RCV002284582] Chr7:117642513 [GRCh38]
Chr7:117282567 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1080del (p.Trp361fs) deletion Cystic fibrosis [RCV002284603] Chr7:117540310 [GRCh38]
Chr7:117180364 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG indel Cystic fibrosis [RCV002284241] Chr7:117606038..117613002 [GRCh38]
Chr7:117246092..117253056 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2988+1616_3367+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC indel Cystic fibrosis [RCV002284252] Chr7:117608369..117612164 [GRCh38]
Chr7:117248423..117252218 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3717+1G>A single nucleotide variant CFTR-related disorder [RCV001830671]|Cystic fibrosis [RCV001009420]|not specified [RCV000780151] Chr7:117627771 [GRCh38]
Chr7:117267825 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3590A>T (p.His1197Leu) single nucleotide variant Cystic fibrosis [RCV001007582]|not specified [RCV000780157] Chr7:117627643 [GRCh38]
Chr7:117267697 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3039C>G (p.Pro1013=) single nucleotide variant Cystic fibrosis [RCV004822193]|not specified [RCV000780164] Chr7:117610569 [GRCh38]
Chr7:117250623 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.4313G>A (p.Arg1438Gln) single nucleotide variant CFTR-related disorder [RCV001825526]|Cystic fibrosis [RCV001785724]|not specified [RCV000780176] Chr7:117666978 [GRCh38]
Chr7:117307032 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3868C>A (p.Pro1290Thr) single nucleotide variant Cystic fibrosis [RCV002360901]|not specified [RCV000781241] Chr7:117642588 [GRCh38]
Chr7:117282642 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4137-7T>C single nucleotide variant Cystic fibrosis [RCV001499632]|not specified [RCV000781259] Chr7:117665452 [GRCh38]
Chr7:117305506 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.1210-2_1210-1del deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV005047044]|Cystic fibrosis [RCV001273247]|not specified [RCV000781285] Chr7:117548639..117548640 [GRCh38]
Chr7:117188693..117188694 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1583A>G (p.Glu528Gly) single nucleotide variant not specified [RCV000781286] Chr7:117559654 [GRCh38]
Chr7:117199708 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.626C>T (p.Ala209Val) single nucleotide variant Cystic fibrosis [RCV003311474] Chr7:117535294 [GRCh38]
Chr7:117175348 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1332T>C (p.Ile444=) single nucleotide variant Cystic fibrosis [RCV003311478] Chr7:117548763 [GRCh38]
Chr7:117188817 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2549T>G (p.Leu850Arg) single nucleotide variant Cystic fibrosis [RCV003311479] Chr7:117594988 [GRCh38]
Chr7:117235042 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2589A>G (p.Leu863=) single nucleotide variant Cystic fibrosis [RCV003311490] Chr7:117595028 [GRCh38]
Chr7:117235082 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.521A>G (p.Lys174Arg) single nucleotide variant Cystic fibrosis [RCV003311492] Chr7:117534307 [GRCh38]
Chr7:117174361 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2532T>G (p.Thr844=) single nucleotide variant Cystic fibrosis [RCV003311476] Chr7:117594971 [GRCh38]
Chr7:117235025 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3601G>T (p.Asp1201Tyr) single nucleotide variant CFTR-related disorder [RCV001825523]|not specified [RCV000780143] Chr7:117627654 [GRCh38]
Chr7:117267708 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3803A>G (p.Gln1268Arg) single nucleotide variant Cystic fibrosis [RCV002535667]|not specified [RCV000780166] Chr7:117642523 [GRCh38]
Chr7:117282577 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2469A>T (p.Glu823Asp) single nucleotide variant CFTR-related disorder [RCV001835348]|not specified [RCV001251351] Chr7:117592636 [GRCh38]
Chr7:117232690 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3282A>G (p.Ser1094=) single nucleotide variant Cystic fibrosis [RCV002068979] Chr7:117611723 [GRCh38]
Chr7:117251777 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3292T>G (p.Trp1098Gly) single nucleotide variant CFTR-related disorder [RCV001832347]|Cystic fibrosis [RCV002434398] Chr7:117611733 [GRCh38]
Chr7:117251787 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1116+31A>C single nucleotide variant not provided [RCV000759027] Chr7:117540377 [GRCh38]
Chr7:117180431 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3642T>A (p.Asp1214Glu) single nucleotide variant Cystic fibrosis [RCV000813576] Chr7:117627695 [GRCh38]
Chr7:117267749 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.932T>G (p.Phe311Cys) single nucleotide variant CFTR-related disorder [RCV001825644]|Cystic fibrosis [RCV000817425] Chr7:117540162 [GRCh38]
Chr7:117180216 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.401G>A (p.Arg134Lys) single nucleotide variant Cystic fibrosis [RCV000802899] Chr7:117531026 [GRCh38]
Chr7:117171080 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2757C>G (p.Tyr919Ter) single nucleotide variant Cystic fibrosis [RCV000821361] Chr7:117603631 [GRCh38]
Chr7:117243685 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NC_000007.14:g.(?_117610509)_(117614723_?)del deletion Cystic fibrosis [RCV000815918] Chr7:117610509..117614723 [GRCh38]
Chr7:117250563..117254777 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.4266G>T (p.Arg1422=) single nucleotide variant Cystic fibrosis [RCV000816303] Chr7:117666931 [GRCh38]
Chr7:117306985 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg) single nucleotide variant Cystic fibrosis [RCV000816454]|not specified [RCV001293621] Chr7:117559641 [GRCh38]
Chr7:117199695 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.3214C>T (p.Pro1072Ser) single nucleotide variant CFTR-related disorder [RCV001832345]|Cystic fibrosis [RCV002409340] Chr7:117611655 [GRCh38]
Chr7:117251709 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1634G>A (p.Gly545Glu) single nucleotide variant not provided [RCV000998900] Chr7:117587788 [GRCh38]
Chr7:117227842 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1358T>C (p.Leu453Ser) single nucleotide variant Cystic fibrosis [RCV000785638] Chr7:117548789 [GRCh38]
Chr7:117188843 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.275_489+1del deletion Cystic fibrosis [RCV000785764] Chr7:117530897..117531112 [GRCh38]
Chr7:117170951..117171166 [GRCh37]
Chr7:7q31.2
pathogenic
NC_000007.13:g.(?_117267556)_(117267869_?)dup duplication Cystic fibrosis [RCV000806567] Chr7:117627502..117627815 [GRCh38]
Chr7:117267556..117267869 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3141_3468+1del deletion Cystic fibrosis [RCV000785771] Chr7:117611580..117614712 [GRCh38]
Chr7:117251634..117254766 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.275_579+1del deletion Cystic fibrosis [RCV000785775] Chr7:117530899..117534365 [GRCh38]
Chr7:117170953..117174419 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3(CFTR):c.(3367+1_3368-1)_(3468+1_3469-1)del deletion Cystic fibrosis [RCV000785633]   pathogenic
NM_000492.4(CFTR):c.3473G>A (p.Arg1158Gln) single nucleotide variant Cystic fibrosis [RCV000818635]|not specified [RCV003235410] Chr7:117627526 [GRCh38]
Chr7:117267580 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2946T>G (p.Ile982Met) single nucleotide variant CFTR-related disorder [RCV001160123]|Cystic fibrosis [RCV000792563]|not specified [RCV002307615] Chr7:117606711 [GRCh38]
Chr7:117246765 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4261G>T (p.Val1421Leu) single nucleotide variant CFTR-related disorder [RCV001830795]|Cystic fibrosis [RCV000818798]|not provided [RCV004792529]|not specified [RCV001193129] Chr7:117666926 [GRCh38]
Chr7:117306980 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1324A>T (p.Lys442Ter) single nucleotide variant Cystic fibrosis [RCV000820702] Chr7:117548755 [GRCh38]
Chr7:117188809 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2836A>G (p.Lys946Glu) single nucleotide variant CFTR-related disorder [RCV001825625]|Cystic fibrosis [RCV000812152]|not specified [RCV001194340] Chr7:117603710 [GRCh38]
Chr7:117243764 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.14:g.(?_117504240)_(117504391_?)del deletion Cystic fibrosis [RCV000817271] Chr7:117504240..117504391 [GRCh38]
Chr7:117144294..117144445 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.483_484insCC (p.Lys162fs) insertion Bronchiectasis with or without elevated sweat chloride 1 [RCV003473519]|Cystic fibrosis [RCV000822777] Chr7:117531108..117531109 [GRCh38]
Chr7:117171162..117171163 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.4363T>G (p.Ser1455Ala) single nucleotide variant CFTR-related disorder [RCV001830712]|Cystic fibrosis [RCV000796592]|not provided [RCV004792480] Chr7:117667028 [GRCh38]
Chr7:117307082 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.743+2T>C single nucleotide variant Cystic fibrosis [RCV000799947] Chr7:117535413 [GRCh38]
Chr7:117175467 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3807C>G (p.Ile1269Met) single nucleotide variant CFTR-related disorder [RCV001830801]|Cystic fibrosis [RCV000820340] Chr7:117642527 [GRCh38]
Chr7:117282581 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.44T>C (p.Leu15Pro) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003472322]|Cystic fibrosis [RCV000785636]|not provided [RCV004792461]|not specified [RCV001000710] Chr7:117480138 [GRCh38]
Chr7:117120192 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1420G>A (p.Glu474Lys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005036116]|Cystic fibrosis [RCV000785640] Chr7:117559491 [GRCh38]
Chr7:117199545 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1211_1392+1del deletion Cystic fibrosis [RCV000785762] Chr7:117548639..117548821 [GRCh38]
Chr7:117188693..117188875 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2492_2619+1del deletion Cystic fibrosis [RCV000785763] Chr7:117594928..117595056 [GRCh38]
Chr7:117234982..117235110 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1586_1679+1del deletion Cystic fibrosis [RCV000785770] Chr7:117587737..117587831 [GRCh38]
Chr7:117227791..117227885 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3(CFTR):c.(405+1_406-1)_(6132)del deletion Cystic fibrosis [RCV000785774] Chr7:117170953..117307162 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2562_2563delinsGA (p.Val855Ile) indel Bronchiectasis with or without elevated sweat chloride 1 [RCV002477833]|Cystic fibrosis [RCV000801560]|not provided [RCV002261211] Chr7:117595001..117595002 [GRCh38]
Chr7:117235055..117235056 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.598T>G (p.Phe200Val) single nucleotide variant Cystic fibrosis [RCV000850153] Chr7:117535266 [GRCh38]
Chr7:117175320 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2540A>G (p.Asn847Ser) single nucleotide variant CFTR-related disorder [RCV001830774]|Cystic fibrosis [RCV000811624]|not specified [RCV002222639] Chr7:117594979 [GRCh38]
Chr7:117235033 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3249T>A (p.Asn1083Lys) single nucleotide variant Cystic fibrosis [RCV001007617] Chr7:117611690 [GRCh38]
Chr7:117251744 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1210-15del deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV002505542]|CFTR-related disorder [RCV004536048]|Cystic fibrosis [RCV002318925] Chr7:117548626 [GRCh38]
Chr7:117188680 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3011_3019del (p.Ala1004_Ala1006del) deletion Cystic fibrosis [RCV000785631] Chr7:117610539..117610547 [GRCh38]
Chr7:117250593..117250601 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2743G>C (p.Val915Leu) single nucleotide variant CFTR-related disorder [RCV004735813]|Cystic fibrosis [RCV000808032] Chr7:117603617 [GRCh38]
Chr7:117243671 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.*1012A>G single nucleotide variant CFTR-related disorder [RCV001163909] Chr7:117668120 [GRCh38]
Chr7:117308174 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.3(CFTR):c.(1)_(4374+1_4375-1)del deletion Cystic fibrosis [RCV000785768] Chr7:117120149..117305618 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3(CFTR):c.(3499+1_3500-1)_(6132)del deletion Cystic fibrosis [RCV000785772] Chr7:117614613..117667108 [GRCh38]
Chr7:117254667..117307162 [GRCh37]
Chr7:7q31.2
pathogenic
NC_000007.13:g.117250573_117254767del deletion Cystic fibrosis [RCV000785761] Chr7:117610519..117614713 [GRCh38]
Chr7:117250573..117254767 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2911_3367+2del deletion Cystic fibrosis [RCV000785765] Chr7:117606672..117611806 [GRCh38]
Chr7:117246726..117251860 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3687C>T (p.Asn1229=) single nucleotide variant CFTR-related disorder [RCV001163788]|Cystic fibrosis [RCV003284008] Chr7:117627740 [GRCh38]
Chr7:117267794 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.1199T>C (p.Phe400Ser) single nucleotide variant CFTR-related disorder [RCV001830756]|Cystic fibrosis [RCV000806606] Chr7:117542098 [GRCh38]
Chr7:117182152 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3364A>G (p.Thr1122Ala) single nucleotide variant CFTR-related disorder [RCV001835970]|Cystic fibrosis [RCV000806943] Chr7:117611805 [GRCh38]
Chr7:117251859 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1496C>T (p.Pro499Leu) single nucleotide variant Cystic fibrosis [RCV000801933] Chr7:117559567 [GRCh38]
Chr7:117199621 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.3:c.1210-33_1210-32insTG insertion not provided [RCV000837302]   benign
NM_000492.4(CFTR):c.1543_1555del (p.Tyr515fs) deletion Cystic fibrosis [RCV000791632]|not provided [RCV001507711] Chr7:117559611..117559623 [GRCh38]
Chr7:117199665..117199677 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.2570A>G (p.Lys857Arg) single nucleotide variant Cystic fibrosis [RCV000791900] Chr7:117595009 [GRCh38]
Chr7:117235063 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1269T>A (p.Asn423Lys) single nucleotide variant Cystic fibrosis [RCV000811254]|not provided [RCV002478881] Chr7:117548700 [GRCh38]
Chr7:117188754 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3628A>C (p.Met1210Leu) single nucleotide variant Cystic fibrosis [RCV000800129] Chr7:117627681 [GRCh38]
Chr7:117267735 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3806T>A (p.Ile1269Asn) single nucleotide variant Cystic fibrosis [RCV000785635] Chr7:117642526 [GRCh38]
Chr7:117282580 [GRCh37]
Chr7:7q31.2
pathogenic
NC_000007.14:g.(?_117664678)_(117665574_?)del deletion Cystic fibrosis [RCV000801356] Chr7:117664678..117665574 [GRCh38]
Chr7:117304732..117305628 [GRCh37]
Chr7:7q31.2
pathogenic
NC_000007.14:g.117610519_117611808del deletion Cystic fibrosis [RCV000785766] Chr7:117610515..117611804 [GRCh38]
Chr7:117250569..117251858 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3(CFTR):c.(1341+1_1342-1)_(4095+1_4096-1)dup duplication Cystic fibrosis [RCV000785769] Chr7:117188695..117292985 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3966_4242+2del deletion Cystic fibrosis [RCV000785773] Chr7:117664687..117665563 [GRCh38]
Chr7:117304741..117305617 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1342A>G (p.Ile448Val) single nucleotide variant Cystic fibrosis [RCV000814060] Chr7:117548773 [GRCh38]
Chr7:117188827 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3457G>A (p.Val1153Met) single nucleotide variant CFTR-related disorder [RCV001830823]|Cystic fibrosis [RCV000823843]|not specified [RCV001000983] Chr7:117614702 [GRCh38]
Chr7:117254756 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3749_3751dup (p.Lys1250dup) duplication Cystic fibrosis [RCV000793319] Chr7:117642466..117642467 [GRCh38]
Chr7:117282520..117282521 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2052A>C (p.Lys684Asn) single nucleotide variant not specified [RCV001194339] Chr7:117592219 [GRCh38]
Chr7:117232273 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2909-92G>A single nucleotide variant CFTR-related disorder [RCV001827175]|Cystic fibrosis [RCV001009333]|not provided [RCV001655666] Chr7:117606582 [GRCh38]
Chr7:117246636 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.1393-61A>G single nucleotide variant Cystic fibrosis [RCV001009356]|not provided [RCV001644895] Chr7:117559403 [GRCh38]
Chr7:117199457 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.3191_3192insTTTTAAGCTTAAAAGG (p.Leu1065fs) insertion Cystic fibrosis [RCV001009405] Chr7:117611632..117611633 [GRCh38]
Chr7:117251686..117251687 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3:c.1585-?_1766+?del deletion Cystic fibrosis [RCV001009441]   pathogenic
NM_000492.4(CFTR):c.25dup (p.Ala9fs) duplication Bronchiectasis with or without elevated sweat chloride 1 [RCV003473559]|Cystic fibrosis [RCV001009447] Chr7:117480117..117480118 [GRCh38]
Chr7:117120171..117120172 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.2639_2640dup (p.Leu881fs) microsatellite Cystic fibrosis [RCV001009449] Chr7:117602842..117602843 [GRCh38]
Chr7:117242896..117242897 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.671del (p.Phe224fs) deletion Cystic fibrosis [RCV001009507] Chr7:117535338 [GRCh38]
Chr7:117175392 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3:c.(?_-1)_(*1_?)del deletion Cystic fibrosis [RCV001009615] Chr7:7q31.2 pathogenic
NM_000492.4(CFTR):c.2299C>T (p.Gln767Ter) single nucleotide variant Cystic fibrosis [RCV001009457] Chr7:117592466 [GRCh38]
Chr7:117232520 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1385C>G (p.Ala462Gly) single nucleotide variant not specified [RCV001194370] Chr7:117548816 [GRCh38]
Chr7:117188870 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4367G>A (p.Ser1456Asn) single nucleotide variant Cystic fibrosis [RCV001273348] Chr7:117667032 [GRCh38]
Chr7:117307086 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 7q31.1-31.31(chr7:107410314-117825549)x1 copy number loss not provided [RCV000846765] Chr7:107410314..117825549 [GRCh37]
Chr7:7q31.1-31.31
pathogenic
GRCh37/hg19 7q31.2(chr7:117141921-117159386)x1 copy number loss not provided [RCV000847547] Chr7:117141921..117159386 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.4296C>G (p.Asn1432Lys) single nucleotide variant CFTR-related disorder [RCV001827204]|Cystic fibrosis [RCV001247338]|not provided [RCV002261252] Chr7:117666961 [GRCh38]
Chr7:117307015 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3350T>C (p.Ile1117Thr) single nucleotide variant Cystic fibrosis [RCV001275774] Chr7:117611791 [GRCh38]
Chr7:117251845 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4433C>G (p.Thr1478Arg) single nucleotide variant CFTR-related disorder [RCV001827205]|Cystic fibrosis [RCV001862220]|not specified [RCV003331023] Chr7:117667098 [GRCh38]
Chr7:117307152 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.273+46T>G single nucleotide variant Cystic fibrosis [RCV001009341] Chr7:117509188 [GRCh38]
Chr7:117149242 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.1210-34= microsatellite Cystic fibrosis [RCV001009359] Chr7:117548607..117548628 [GRCh38]
Chr7:117188661..117188682 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.1210-34TG[13] microsatellite CFTR-related disorder [RCV004530648]|Cystic fibrosis [RCV001009361] Chr7:117548606..117548607 [GRCh38]
Chr7:117188660..117188661 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.959del (p.Leu320fs) deletion Cystic fibrosis [RCV001009413] Chr7:117540185 [GRCh38]
Chr7:117180239 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2989-908_3085delinsGACAG indel Cystic fibrosis [RCV001009456] Chr7:117609611..117610615 [GRCh38]
Chr7:117249665..117250669 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2556T>G (p.Tyr852Ter) single nucleotide variant Cystic fibrosis [RCV001009529] Chr7:117594995 [GRCh38]
Chr7:117235049 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1392+395G>A single nucleotide variant CFTR-related disorder [RCV001027914] Chr7:117549218 [GRCh38]
Chr7:117189272 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.1737T>C (p.Asp579=) single nucleotide variant CFTR-related disorder [RCV001163685]|Cystic fibrosis [RCV004822316] Chr7:117590410 [GRCh38]
Chr7:117230464 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.3546del (p.Pro1181_Tyr1182insTer) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003473765]|Cystic fibrosis [RCV001215372] Chr7:117627599 [GRCh38]
Chr7:117267653 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.2410G>A (p.Glu804Lys) single nucleotide variant CFTR-related disorder [RCV001833752]|Cystic fibrosis [RCV002447039]|not specified [RCV001194372] Chr7:117592577 [GRCh38]
Chr7:117232631 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1766+152T>A single nucleotide variant Cystic fibrosis [RCV001009340]|not provided [RCV001713063] Chr7:117590591 [GRCh38]
Chr7:117230645 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.1210-12= microsatellite Cystic fibrosis [RCV001009345] Chr7:117548629..117548635 [GRCh38]
Chr7:117188683..117188689 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.410_416del (p.Leu137fs) deletion Cystic fibrosis [RCV001009424] Chr7:117531035..117531041 [GRCh38]
Chr7:117171089..117171095 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.165-2A>C single nucleotide variant Cystic fibrosis [RCV001009431] Chr7:117509032 [GRCh38]
Chr7:117149086 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3:c.2989-?_3367+?del deletion Cystic fibrosis [RCV001009454]   pathogenic
NM_000492.4(CFTR):c.1732C>G (p.Leu578Val) single nucleotide variant CFTR-related disorder [RCV001835248]|Cystic fibrosis [RCV001245809]|not provided [RCV004793356] Chr7:117590405 [GRCh38]
Chr7:117230459 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3598_3599delinsG (p.Lys1200fs) indel Cystic fibrosis [RCV001009401] Chr7:117627651..117627652 [GRCh38]
Chr7:117267705..117267706 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.874G>T (p.Glu292Ter) single nucleotide variant Cystic fibrosis [RCV001009411] Chr7:117540104 [GRCh38]
Chr7:117180158 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3:c.870-?_1584+?del deletion Cystic fibrosis [RCV001009410]   pathogenic
NM_000492.4(CFTR):c.808C>T (p.Gln270Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005036276]|Cystic fibrosis [RCV001009418] Chr7:117536612 [GRCh38]
Chr7:117176666 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3:c.2989-?_3468+?del deletion Cystic fibrosis [RCV001009463]   pathogenic
NM_000492.4(CFTR):c.4303dup (p.Ser1435fs) duplication CFTR-related disorder [RCV001009480] Chr7:117666967..117666968 [GRCh38]
Chr7:117307021..117307022 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3:c.54-?_164+?del deletion Cystic fibrosis [RCV001009518]   pathogenic
NG_016465.4:g.144084_151285del deletion Cystic fibrosis [RCV000851288] Chr7:7q31.2 pathogenic
NM_000492.4(CFTR):c.3857T>G (p.Phe1286Cys) single nucleotide variant Cystic fibrosis [RCV002355138]|not specified [RCV001175408] Chr7:117642577 [GRCh38]
Chr7:117282631 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1210-6T>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004796341]|CFTR-related disorder [RCV004545005]|Cystic fibrosis [RCV002354915]|not specified [RCV001000391] Chr7:117548635 [GRCh38]
Chr7:117188689 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.2428A>T (p.Arg810Ter) single nucleotide variant Cystic fibrosis [RCV001056339]|not specified [RCV001001123] Chr7:117592595 [GRCh38]
Chr7:117232649 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2936A>G (p.Asp979Gly) single nucleotide variant CFTR-related disorder [RCV001833736]|not specified [RCV001175582] Chr7:117606701 [GRCh38]
Chr7:117246755 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.514C>A (p.Leu172Ile) single nucleotide variant Cystic fibrosis [RCV001272228]|not specified [RCV001002026] Chr7:117534300 [GRCh38]
Chr7:117174354 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1210-13_1210-12insGT insertion not specified [RCV001002178] Chr7:117548628..117548629 [GRCh38]
Chr7:117188682..117188683 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.538C>G (p.Leu180Val) single nucleotide variant CFTR-related disorder [RCV001828585]|Cystic fibrosis [RCV001239913]|not specified [RCV001174716] Chr7:117534324 [GRCh38]
Chr7:117174378 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1769G>A (p.Cys590Tyr) single nucleotide variant CFTR-related disorder [RCV001833926]|Cystic fibrosis [RCV001222253] Chr7:117591936 [GRCh38]
Chr7:117231990 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.146T>C (p.Leu49Pro) single nucleotide variant not provided [RCV004812732] Chr7:117504345 [GRCh38]
Chr7:117144399 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2565C>T (p.Val855=) single nucleotide variant Cystic fibrosis [RCV004607532] Chr7:117595004 [GRCh38]
Chr7:117235058 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.99A>G (p.Glu33=) single nucleotide variant Cystic fibrosis [RCV004607529] Chr7:117504298 [GRCh38]
Chr7:117144352 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2657+12A>G single nucleotide variant Cystic fibrosis [RCV002560154]|not specified [RCV001192464] Chr7:117602875 [GRCh38]
Chr7:117242929 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.3367+238_3367+259del deletion not specified [RCV001193050] Chr7:117612033..117612054 [GRCh38]
Chr7:117252087..117252108 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2703C>T (p.Asn901=) single nucleotide variant CFTR-related disorder [RCV001828596]|Cystic fibrosis [RCV001447821]|not specified [RCV001193106] Chr7:117603577 [GRCh38]
Chr7:117243631 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4336A>G (p.Arg1446Gly) single nucleotide variant CFTR-related disorder [RCV001836199]|Cystic fibrosis [RCV001239114] Chr7:117667001 [GRCh38]
Chr7:117307055 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.874_875del (p.Glu292fs) deletion Cystic fibrosis [RCV001215678] Chr7:117540103..117540104 [GRCh38]
Chr7:117180157..117180158 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3674C>T (p.Ala1225Val) single nucleotide variant CFTR-related disorder [RCV001833861]|Cystic fibrosis [RCV001212579]|not specified [RCV003235499] Chr7:117627727 [GRCh38]
Chr7:117267781 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2906C>T (p.Ala969Val) single nucleotide variant Cystic fibrosis [RCV001250518] Chr7:117603780 [GRCh38]
Chr7:117243834 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1762G>A (p.Glu588Lys) single nucleotide variant CFTR-related disorder [RCV001828615]|Cystic fibrosis [RCV001296330]|not specified [RCV001201269] Chr7:117590435 [GRCh38]
Chr7:117230489 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1417G>A (p.Gly473Arg) single nucleotide variant CFTR-related disorder [RCV001828792]|Cystic fibrosis [RCV001224828] Chr7:117559488 [GRCh38]
Chr7:117199542 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.205C>A (p.Leu69Ile) single nucleotide variant Cystic fibrosis [RCV001250527] Chr7:117509074 [GRCh38]
Chr7:117149128 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.511G>A (p.Val171Ile) single nucleotide variant CFTR-related disorder [RCV001836229]|Cystic fibrosis [RCV001244366] Chr7:117534297 [GRCh38]
Chr7:117174351 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3101T>G (p.Leu1034Arg) single nucleotide variant CFTR-related disorder [RCV001829945]|Cystic fibrosis [RCV001245035] Chr7:117610631 [GRCh38]
Chr7:117250685 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1675G>T (p.Ala559Ser) single nucleotide variant Cystic fibrosis [RCV001228121] Chr7:117587829 [GRCh38]
Chr7:117227883 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.53+3G>C single nucleotide variant CFTR-related disorder [RCV001828682]|Cystic fibrosis [RCV001210058] Chr7:117480150 [GRCh38]
Chr7:117120204 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.274-5_274-2del deletion Cystic fibrosis [RCV000855422] Chr7:117530894..117530897 [GRCh38]
Chr7:117170948..117170951 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3391A>G (p.Ile1131Val) single nucleotide variant CFTR-related disorder [RCV001832348]|Cystic fibrosis [RCV001785767]|not specified [RCV001527043] Chr7:117614636 [GRCh38]
Chr7:117254690 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2619+86_2619+87del deletion Cystic fibrosis [RCV001009332]|not provided [RCV001683723] Chr7:117595143..117595144 [GRCh38]
Chr7:117235197..117235198 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.4137-139G>A single nucleotide variant Cystic fibrosis [RCV001009339]|not provided [RCV001619880] Chr7:117665320 [GRCh38]
Chr7:117305374 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.3874-200G>A single nucleotide variant Cystic fibrosis [RCV001009343]|not provided [RCV001673005] Chr7:117652642 [GRCh38]
Chr7:117292696 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.755delinsGCTGGGAAGAT (p.Ala252fs) indel Cystic fibrosis [RCV001009417] Chr7:117536559 [GRCh38]
Chr7:117176613 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3838C>T (p.Gln1280Ter) single nucleotide variant Cystic fibrosis [RCV001009419] Chr7:117642558 [GRCh38]
Chr7:117282612 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.4071del (p.Arg1358fs) deletion Cystic fibrosis [RCV001009428] Chr7:117664795 [GRCh38]
Chr7:117304849 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1209+2T>G single nucleotide variant Cystic fibrosis [RCV001009435] Chr7:117542110 [GRCh38]
Chr7:117182164 [GRCh37]
Chr7:7q31.2
pathogenic
NG_016465.4:g.13126_48866dup duplication Cystic fibrosis [RCV001009437]   pathogenic
NM_000492.4(CFTR):c.2924_2925del (p.Arg975fs) deletion Cystic fibrosis [RCV001009445] Chr7:117606688..117606689 [GRCh38]
Chr7:117246742..117246743 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3:c.274-?_1584+?dup duplication Cystic fibrosis [RCV001009451]   pathogenic
NM_000492.4(CFTR):c.1210-9_1210-6del deletion Cystic fibrosis [RCV001009524] Chr7:117548629..117548632 [GRCh38]
Chr7:117188683..117188686 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3388G>C (p.Gly1130Arg) single nucleotide variant CFTR-related disorder [RCV001250131] Chr7:117614633 [GRCh38]
Chr7:117254687 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.14:g.117664689_117664693dup duplication Cystic fibrosis [RCV001238236] Chr7:117664686..117664687 [GRCh38]
Chr7:117304740..117304741 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3469-2880_3717+2150del deletion Cystic fibrosis [RCV001009525] Chr7:117624638..117629916 [GRCh38]
Chr7:117264692..117269970 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2450del (p.Gly817fs) deletion Cystic fibrosis [RCV001009527] Chr7:117592616 [GRCh38]
Chr7:117232670 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2044dup (p.Thr682fs) duplication Cystic fibrosis [RCV001009530] Chr7:117592208..117592209 [GRCh38]
Chr7:117232262..117232263 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.54-4235_164+377dup duplication Cystic fibrosis [RCV001009544] Chr7:117500017..117500018 [GRCh38]
Chr7:117140071..117140072 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2812G>T (p.Val938Leu) single nucleotide variant CFTR-related disorder [RCV001828592]|Cystic fibrosis [RCV001205295]|not specified [RCV001192434] Chr7:117603686 [GRCh38]
Chr7:117243740 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1680-992dup duplication not specified [RCV001192462] Chr7:117589356..117589357 [GRCh38]
Chr7:117229410..117229411 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2482G>A (p.Asp828Asn) single nucleotide variant CFTR-related disorder [RCV001834105]|Cystic fibrosis [RCV001239879] Chr7:117592649 [GRCh38]
Chr7:117232703 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2490+1G>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004570640]|CFTR-related disorder [RCV004538530]|Cystic fibrosis [RCV001250517] Chr7:117592658 [GRCh38]
Chr7:117232712 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1390A>G (p.Lys464Glu) single nucleotide variant Cystic fibrosis [RCV001250572] Chr7:117548821 [GRCh38]
Chr7:117188875 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3460G>A (p.Asp1154Asn) single nucleotide variant Cystic fibrosis [RCV001200893] Chr7:117614705 [GRCh38]
Chr7:117254759 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.8G>T (p.Arg3Met) single nucleotide variant CFTR-related disorder [RCV001158546]|Cystic fibrosis [RCV002375044] Chr7:117480102 [GRCh38]
Chr7:117120156 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2708A>G (p.Tyr903Cys) single nucleotide variant CFTR-related disorder [RCV001158767]|Cystic fibrosis [RCV002436725] Chr7:117603582 [GRCh38]
Chr7:117243636 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.260T>C (p.Phe87Ser) single nucleotide variant CFTR-related disorder [RCV001833884]|Cystic fibrosis [RCV001216825]|not provided [RCV001812256]|not specified [RCV003331082] Chr7:117509129 [GRCh38]
Chr7:117149183 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1743A>T (p.Leu581Phe) single nucleotide variant Cystic fibrosis [RCV003104949] Chr7:117590416 [GRCh38]
Chr7:117230470 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.490A>C (p.Thr164Pro) single nucleotide variant not specified [RCV003230918] Chr7:117534276 [GRCh38]
Chr7:117174330 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1472G>C (p.Cys491Ser) single nucleotide variant not provided [RCV003477069]|not specified [RCV003230919] Chr7:117559543 [GRCh38]
Chr7:117199597 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.400A>G (p.Arg134Gly) single nucleotide variant not specified [RCV004699732] Chr7:117531025 [GRCh38]
Chr7:117171079 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4103T>C (p.Leu1368Pro) single nucleotide variant Cystic fibrosis [RCV003229790] Chr7:117664827 [GRCh38]
Chr7:117304881 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2908+107C>A single nucleotide variant not provided [RCV001576490] Chr7:117603889 [GRCh38]
Chr7:117243943 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1585-152G>T single nucleotide variant not provided [RCV001567280] Chr7:117587587 [GRCh38]
Chr7:117227641 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1584+675A>G single nucleotide variant Cystic fibrosis [RCV004805151] Chr7:117560330 [GRCh38]
Chr7:117200384 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3163C>T (p.Leu1055Phe) single nucleotide variant Cystic fibrosis [RCV004607537] Chr7:117611604 [GRCh38]
Chr7:117251658 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2680A>T (p.Asn894Tyr) single nucleotide variant Cystic fibrosis [RCV004607534] Chr7:117603554 [GRCh38]
Chr7:117243608 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3368-78dup duplication not specified [RCV003317756] Chr7:117614534..117614535 [GRCh38]
Chr7:117254588..117254589 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2818dup (p.Thr940fs) duplication Cystic fibrosis [RCV003317760] Chr7:117603691..117603692 [GRCh38]
Chr7:117243745..117243746 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.744-9_744-2delinsTACG indel Cystic fibrosis [RCV003317763] Chr7:117536539..117536546 [GRCh38]
Chr7:117176593..117176600 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1675G>C (p.Ala559Pro) single nucleotide variant Cystic fibrosis [RCV003507500]|not provided [RCV003481487]|not specified [RCV003317765] Chr7:117587829 [GRCh38]
Chr7:117227883 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance
NM_000492.4(CFTR):c.52A>G (p.Ser18Gly) single nucleotide variant Cystic fibrosis [RCV003618068]|not specified [RCV003317766] Chr7:117480146 [GRCh38]
Chr7:117120200 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4:c.(53+1_54-1)_(164+1_165-1)del deletion Cystic fibrosis [RCV002284514]   pathogenic
NM_000492.4(CFTR):c.2490+827_2620-3551del deletion Cystic fibrosis [RCV002284526] Chr7:117593480..117599271 [GRCh38]
Chr7:117233534..117239325 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4:c.(273+1_274-1)_(1392+1_1393-1)dup duplication Cystic fibrosis [RCV002284527]   uncertain significance
NM_000492.4(CFTR):c.3602del (p.Asp1201fs) deletion Cystic fibrosis [RCV002284548] Chr7:117627655 [GRCh38]
Chr7:117267709 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3889del (p.Ser1297fs) deletion Cystic fibrosis [RCV002284551] Chr7:117652852 [GRCh38]
Chr7:117292906 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4:c.(1209+1_1210-1)_(1392+1_1393-1)del deletion Cystic fibrosis [RCV002284557]   likely pathogenic
NM_000492.4:c.(3963+1_3964-1)_(*1_?)del deletion Cystic fibrosis [RCV002284559]   pathogenic
NM_000492.4:c.(3468+1_3469-1)_(3873+1_3874-1)del deletion Cystic fibrosis [RCV002284560]   likely pathogenic
NM_000492.4:c.(4136+1_4137-1)_(4242+1_4243-1)del deletion Cystic fibrosis [RCV002284564]   pathogenic
NM_000492.4:c.(273+1_274-1)_(1209+1_1210-1)del deletion Cystic fibrosis [RCV002284567]   likely pathogenic
NM_000492.4:c.(3428+1_3469-1)_(3717+1_3718-1)dup duplication Cystic fibrosis [RCV002284573]   likely pathogenic
NM_000492.4(CFTR):c.2991_2993del microsatellite Cystic fibrosis [RCV002284577] Chr7:117610518..117610520 [GRCh38]
Chr7:117250572..117250574 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4220T>C (p.Met1407Thr) single nucleotide variant Cystic fibrosis [RCV002284580]|not provided [RCV003478958]|not specified [RCV004526923] Chr7:117665542 [GRCh38]
Chr7:117305596 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1478A>T (p.Gln493Leu) single nucleotide variant Cystic fibrosis [RCV002284588] Chr7:117559549 [GRCh38]
Chr7:117199603 [GRCh37]
Chr7:7q31.2
likely pathogenic|conflicting interpretations of pathogenicity
NM_000492.4(CFTR):c.3000_3014del (p.Val1001_Ile1005del) deletion Cystic fibrosis [RCV002284598] Chr7:117610528..117610542 [GRCh38]
Chr7:117250582..117250596 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.2705del (p.Ser902fs) deletion Cystic fibrosis [RCV002284601] Chr7:117603579 [GRCh38]
Chr7:117243633 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.320C>G (p.Ala107Gly) single nucleotide variant Cystic fibrosis [RCV002284604] Chr7:117530945 [GRCh38]
Chr7:117170999 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4:c.(273+1_274-1)_(1679+1_1680-1)del deletion Cystic fibrosis [RCV002284606]   pathogenic
NM_000492.4(CFTR):c.1159_1160del (p.Leu387fs) deletion Cystic fibrosis [RCV002284607] Chr7:117542058..117542059 [GRCh38]
Chr7:117182112..117182113 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4:c.(2619+1_2620-1)_(3367+1_3368-1)del deletion Cystic fibrosis [RCV002284610]   pathogenic
NM_000492.4:c.(2988+1_2989-1)_(3367+1_3368-1)del deletion Cystic fibrosis [RCV002284611]   pathogenic
NM_000492.4(CFTR):c.1579_1584+11del deletion Cystic fibrosis [RCV002284242] Chr7:117559645..117559661 [GRCh38]
Chr7:117199699..117199715 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4:c.53+9713_1392+2669del deletion Cystic fibrosis [RCV002284515]   pathogenic
NM_000492.4(CFTR):c.1394C>T (p.Thr465Ile) single nucleotide variant Cystic fibrosis [RCV002284518] Chr7:117559465 [GRCh38]
Chr7:117199519 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1592_1593delinsG (p.Ile530_Ser531insTer) indel Cystic fibrosis [RCV002284522] Chr7:117587746..117587747 [GRCh38]
Chr7:117227800..117227801 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3085T>A (p.Leu1029Met) single nucleotide variant Cystic fibrosis [RCV002284529] Chr7:117610615 [GRCh38]
Chr7:117250669 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1849_1851del (p.Leu617del) deletion Cystic fibrosis [RCV002284530] Chr7:117592014..117592016 [GRCh38]
Chr7:117232068..117232070 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.241T>C (p.Phe81Leu) single nucleotide variant Cystic fibrosis [RCV002284535] Chr7:117509110 [GRCh38]
Chr7:117149164 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3101T>C (p.Leu1034Pro) single nucleotide variant Cystic fibrosis [RCV002284538] Chr7:117610631 [GRCh38]
Chr7:117250685 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.274-6586A>G single nucleotide variant Cystic fibrosis [RCV001682622] Chr7:117524313 [GRCh38]
Chr7:117164367 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.53+8298C>G single nucleotide variant Cystic fibrosis [RCV001682630] Chr7:117488445 [GRCh38]
Chr7:117128499 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.7A>C (p.Arg3=) single nucleotide variant Cystic fibrosis [RCV004607530] Chr7:117480101 [GRCh38]
Chr7:117120155 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3635T>C (p.Val1212Ala) single nucleotide variant Cystic fibrosis [RCV004607572] Chr7:117627688 [GRCh38]
Chr7:117267742 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.54-5811_164+2186delinsGGGAATTCATTCTTGATTTGCCTCTCTGCTGCCTGTTGTTGGTGTAAACAAAATTCATTTCTTGTTCTTATTTGTGAAATTTTGGAACCAAATCTATTTTCAAATTAGAAATTGCTTGTGATAATGGTTTTGCAACTTAGACTGGATATGAGACGATGAGATATTAGTTCTTTCATTCCTTT indel Cystic fibrosis [RCV002284247] Chr7:117498442..117506549 [GRCh38]
Chr7:117138496..117146603 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.744-34A>T single nucleotide variant not specified [RCV001553622] Chr7:117536514 [GRCh38]
Chr7:117176568 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2988+238G>C single nucleotide variant not provided [RCV001546413] Chr7:117606991 [GRCh38]
Chr7:117247045 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3972del (p.Arg1325fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV005047128]|Cystic fibrosis [RCV000855426] Chr7:117664696 [GRCh38]
Chr7:117304750 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.2322A>T (p.Thr774=) single nucleotide variant Cystic fibrosis [RCV000873070] Chr7:117592489 [GRCh38]
Chr7:117232543 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3964-6C>T single nucleotide variant Cystic fibrosis [RCV000873125] Chr7:117664682 [GRCh38]
Chr7:117304736 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.930C>T (p.Phe310=) single nucleotide variant Cystic fibrosis [RCV000873422] Chr7:117540160 [GRCh38]
Chr7:117180214 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.390C>G (p.Leu130=) single nucleotide variant CFTR-related disorder [RCV001825795]|Cystic fibrosis [RCV001472809] Chr7:117531015 [GRCh38]
Chr7:117171069 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.544dup (p.Ser182fs) duplication Bronchiectasis with or without elevated sweat chloride 1 [RCV004569799]|Cystic fibrosis [RCV000855423] Chr7:117534329..117534330 [GRCh38]
Chr7:117174383..117174384 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.2600T>G (p.Leu867Ter) single nucleotide variant Cystic fibrosis [RCV000855427] Chr7:117595039 [GRCh38]
Chr7:117235093 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.678A>T (p.Gly226=) single nucleotide variant Cystic fibrosis [RCV001480564] Chr7:117535346 [GRCh38]
Chr7:117175400 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3140-92T>C single nucleotide variant Cystic fibrosis [RCV001009350]|not provided [RCV001706711] Chr7:117611489 [GRCh38]
Chr7:117251543 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.1518C>A (p.Ile506=) single nucleotide variant Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001593079]|Cystic fibrosis [RCV001405872]|not provided [RCV000865586] Chr7:117559589 [GRCh38]
Chr7:117199643 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.640C>T (p.Leu214=) single nucleotide variant Cystic fibrosis [RCV000867036] Chr7:117535308 [GRCh38]
Chr7:117175362 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2052A>G (p.Lys684=) single nucleotide variant CFTR-related disorder [RCV004538282]|Cystic fibrosis [RCV000869396]|not provided [RCV001284134] Chr7:117592219 [GRCh38]
Chr7:117232273 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4048C>T (p.His1350Tyr) single nucleotide variant CFTR-related disorder [RCV001828599]|Cystic fibrosis [RCV002320424]|not specified [RCV001193646] Chr7:117664772 [GRCh38]
Chr7:117304826 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3574A>T (p.Ile1192Phe) single nucleotide variant CFTR-related disorder [RCV001828715]|Cystic fibrosis [RCV001215270] Chr7:117627627 [GRCh38]
Chr7:117267681 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1384G>T (p.Ala462Ser) single nucleotide variant CFTR-related disorder [RCV001161867] Chr7:117548815 [GRCh38]
Chr7:117188869 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.*839A>T single nucleotide variant CFTR-related disorder [RCV001163906] Chr7:117667947 [GRCh38]
Chr7:117308001 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3975A>T (p.Arg1325Ser) single nucleotide variant Cystic fibrosis [RCV001051933] Chr7:117664699 [GRCh38]
Chr7:117304753 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1936G>A (p.Gly646Arg) single nucleotide variant Cystic fibrosis [RCV001207944] Chr7:117592103 [GRCh38]
Chr7:117232157 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4116C>T (p.Pro1372=) single nucleotide variant Cystic fibrosis [RCV001425284]|not specified [RCV001193107] Chr7:117664840 [GRCh38]
Chr7:117304894 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4222C>T (p.Leu1408=) single nucleotide variant Cystic fibrosis [RCV002327459]|not specified [RCV001193710] Chr7:117665544 [GRCh38]
Chr7:117305598 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.487A>G (p.Lys163Glu) single nucleotide variant Cystic fibrosis [RCV001064386] Chr7:117531112 [GRCh38]
Chr7:117171166 [GRCh37]
Chr7:7q31.2
pathogenic|uncertain significance
NM_000492.4(CFTR):c.3256A>G (p.Thr1086Ala) single nucleotide variant CFTR-related disorder [RCV001828546]|Cystic fibrosis [RCV001247914]|not provided [RCV001091001]|not specified [RCV003235467] Chr7:117611697 [GRCh38]
Chr7:117251751 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3480G>A (p.Val1160=) single nucleotide variant Cystic fibrosis [RCV001396669]|not specified [RCV001192465] Chr7:117627533 [GRCh38]
Chr7:117267587 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2752A>G (p.Ile918Val) single nucleotide variant not specified [RCV001193073] Chr7:117603626 [GRCh38]
Chr7:117243680 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.14:g.(?_117530889)_(117559666_?)del deletion Cystic fibrosis [RCV001031324] Chr7:117170943..117199720 [GRCh37]
Chr7:7q31.2
pathogenic
NC_000007.14:g.(?_117530879)_(117535431_?)del deletion Cystic fibrosis [RCV001032133] Chr7:117170933..117175485 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3:c.54-5842_489+401del deletion Cystic fibrosis [RCV001731138]   pathogenic
NM_000492.3:c.(273+1_274-1)_(1584+1_1585-1)del deletion Cystic fibrosis [RCV001731139]   pathogenic
NM_000492.4(CFTR):c.4242+198T>C single nucleotide variant not provided [RCV001649417] Chr7:117665762 [GRCh38]
Chr7:117305816 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.1767-154A>G single nucleotide variant not provided [RCV001558602] Chr7:117591780 [GRCh38]
Chr7:117231834 [GRCh37]
Chr7:7q31.2
likely benign
NC_000007.13:g.(117180401_117182069)_(117182163_117188694)del deletion Cystic fibrosis [RCV003230917] Chr7:117182069..117182163 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1825C>T (p.His609Tyr) single nucleotide variant Cystic fibrosis [RCV002254396]|not specified [RCV004587335] Chr7:117591992 [GRCh38]
Chr7:117232046 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance
NM_000492.4(CFTR):c.796A>G (p.Ile266Val) single nucleotide variant Cystic fibrosis [RCV003164735]|not specified [RCV002469982] Chr7:117536600 [GRCh38]
Chr7:117176654 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2620-180G>A single nucleotide variant not provided [RCV001565972] Chr7:117602646 [GRCh38]
Chr7:117242700 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1137A>C (p.Glu379Asp) single nucleotide variant Cystic fibrosis [RCV001263474]|not provided [RCV001283962] Chr7:117542036 [GRCh38]
Chr7:117182090 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3563C>T (p.Ser1188Leu) single nucleotide variant CFTR-related disorder [RCV001027916]|Cystic fibrosis [RCV001224092] Chr7:117627616 [GRCh38]
Chr7:117267670 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3963+69A>G single nucleotide variant Cystic fibrosis [RCV001009336] Chr7:117653000 [GRCh38]
Chr7:117293054 [GRCh37]
Chr7:7q31.2
benign|conflicting interpretations of pathogenicity
NM_000492.4(CFTR):c.3368-140A>C single nucleotide variant Cystic fibrosis [RCV001009337]|not provided [RCV001712848] Chr7:117614473 [GRCh38]
Chr7:117254527 [GRCh37]
Chr7:7q31.2
benign
NM_000492.3(CFTR):c.-85C>G single nucleotide variant Cystic fibrosis [RCV001009347] Chr7:117480010 [GRCh38]
Chr7:117120064 [GRCh37]
Chr7:7q31.2
benign
NG_016465.4:g.18346T>G single nucleotide variant Cystic fibrosis [RCV001009349] Chr7:117479129 [GRCh38]
Chr7:117119183 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.744-33= variation Cystic fibrosis [RCV001009351] Chr7:117536515..117536542 [GRCh38]
Chr7:117176569..117176596 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.1392+60dup duplication Cystic fibrosis [RCV001009357] Chr7:117548874..117548875 [GRCh38]
Chr7:117188928..117188929 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.2989-313A>T single nucleotide variant Cystic fibrosis [RCV001009397]|Cystic fibrosis [RCV001860603] Chr7:117610206 [GRCh38]
Chr7:117250260 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3599_3600delinsG (p.Lys1200fs) indel Cystic fibrosis [RCV001009402] Chr7:117627652..117627653 [GRCh38]
Chr7:117267706..117267707 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3468+2T>C single nucleotide variant Cystic fibrosis [RCV001009403] Chr7:117614715 [GRCh38]
Chr7:117254769 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.4051A>T (p.Lys1351Ter) single nucleotide variant Cystic fibrosis [RCV001009427] Chr7:117664775 [GRCh38]
Chr7:117304829 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2045del (p.Thr682fs) deletion Cystic fibrosis [RCV001009432] Chr7:117592212 [GRCh38]
Chr7:117232266 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1248dup (p.Asn417Ter) duplication Cystic fibrosis [RCV001009442] Chr7:117548678..117548679 [GRCh38]
Chr7:117188732..117188733 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1616_1617dup (p.Val540Ter) microsatellite Cystic fibrosis [RCV001009444] Chr7:117587766..117587767 [GRCh38]
Chr7:117227820..117227821 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2065C>T (p.Gln689Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004569855]|Cystic fibrosis [RCV001009460] Chr7:117592232 [GRCh38]
Chr7:117232286 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.490-3T>G single nucleotide variant CFTR-related disorder [RCV001009492] Chr7:117534273 [GRCh38]
Chr7:117174327 [GRCh37]
Chr7:7q31.2
pathogenic
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3
pathogenic
NM_000492.4(CFTR):c.273+86T>C single nucleotide variant not provided [RCV001677823] Chr7:117509228 [GRCh38]
Chr7:117149282 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.579+113C>T single nucleotide variant not provided [RCV001716647] Chr7:117534478 [GRCh38]
Chr7:117174532 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.2909-71G>C single nucleotide variant Cystic fibrosis [RCV001009335]|not provided [RCV001683724] Chr7:117606603 [GRCh38]
Chr7:117246657 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.3469-65C>A single nucleotide variant Cystic fibrosis [RCV001009342]|not provided [RCV001619881] Chr7:117627457 [GRCh38]
Chr7:117267511 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.2373del (p.Arg792fs) deletion Cystic fibrosis [RCV001009467] Chr7:117592540 [GRCh38]
Chr7:117232594 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.586dup (p.Ala196fs) duplication Cystic fibrosis [RCV001009510]|Cystic fibrosis [RCV001250523] Chr7:117535253..117535254 [GRCh38]
Chr7:117175307..117175308 [GRCh37]
Chr7:7q31.2
pathogenic
GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1 copy number loss not provided [RCV001005991] Chr7:106617406..123217914 [GRCh37]
Chr7:7q22.3-31.32
pathogenic
NM_000492.4(CFTR):c.2490+197A>T single nucleotide variant not provided [RCV001590738] Chr7:117592854 [GRCh38]
Chr7:117232908 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3873+117T>G single nucleotide variant not provided [RCV001677957] Chr7:117642710 [GRCh38]
Chr7:117282764 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.725G>A (p.Arg242Lys) single nucleotide variant Cystic fibrosis [RCV001213817] Chr7:117535393 [GRCh38]
Chr7:117175447 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000007.14:g.(?_117504233)_(117504391_?)del deletion Cystic fibrosis [RCV001031094] Chr7:117144287..117144445 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1804T>C (p.Leu602=) single nucleotide variant Cystic fibrosis [RCV001417436] Chr7:117591971 [GRCh38]
Chr7:117232025 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2937T>C (p.Asp979=) single nucleotide variant CFTR-related disorder [RCV001160122]|Cystic fibrosis [RCV002070978] Chr7:117606702 [GRCh38]
Chr7:117246756 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.*81C>T single nucleotide variant CFTR-related disorder [RCV001160220]|not provided [RCV004695025] Chr7:117667189 [GRCh38]
Chr7:117307243 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.14:g.(?_117606659)_(117614723_?)dup duplication Cystic fibrosis [RCV001032068] Chr7:117246713..117254777 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1300T>C (p.Ser434Pro) single nucleotide variant not specified [RCV001192430] Chr7:117548731 [GRCh38]
Chr7:117188785 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1951G>A (p.Asp651Asn) single nucleotide variant CFTR-related disorder [RCV001827184]|Cystic fibrosis [RCV001785765]|not specified [RCV001192401] Chr7:117592118 [GRCh38]
Chr7:117232172 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1960A>T (p.Ser654Cys) single nucleotide variant Cystic fibrosis [RCV001347157] Chr7:117592127 [GRCh38]
Chr7:117232181 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2026C>G (p.Pro676Ala) single nucleotide variant CFTR-related disorder [RCV004528337]|Cystic fibrosis [RCV001242641] Chr7:117592193 [GRCh38]
Chr7:117232247 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1801del (p.Ile601fs) deletion CFTR-related disorder [RCV001828595]|Cystic fibrosis [RCV001193104] Chr7:117591968 [GRCh38]
Chr7:117232022 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1765A>C (p.Ser589Arg) single nucleotide variant CFTR-related disorder [RCV001828736]|Cystic fibrosis [RCV001218510] Chr7:117590438 [GRCh38]
Chr7:117230492 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1315C>G (p.Pro439Ala) single nucleotide variant CFTR-related disorder [RCV001161864] Chr7:117548746 [GRCh38]
Chr7:117188800 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1210-15_1210-14insGTGT insertion not specified [RCV001000931] Chr7:117548626..117548627 [GRCh38]
Chr7:117188680..117188681 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.3741_3742insATCAG (p.Ser1248fs) insertion not specified [RCV001001346] Chr7:117642461..117642462 [GRCh38]
Chr7:117282515..117282516 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3128T>A (p.Leu1043Gln) single nucleotide variant CFTR-related disorder [RCV001828600]|not specified [RCV001193704] Chr7:117610658 [GRCh38]
Chr7:117250712 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2407A>T (p.Thr803Ser) single nucleotide variant CFTR-related disorder [RCV001836129]|Cystic fibrosis [RCV004822319]|not specified [RCV001193709] Chr7:117592574 [GRCh38]
Chr7:117232628 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1715A>G (p.Asp572Gly) single nucleotide variant CFTR-related disorder [RCV001830089]|Cystic fibrosis [RCV002542983]|not provided [RCV001813110]|not specified [RCV004770000] Chr7:117590388 [GRCh38]
Chr7:117230442 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.3(CFTR):c.-139T>G single nucleotide variant CFTR-related disorder [RCV001158545] Chr7:117479956 [GRCh38]
Chr7:117120010 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.23A>G (p.Lys8Arg) single nucleotide variant CFTR-related disorder [RCV001158547] Chr7:117480117 [GRCh38]
Chr7:117120171 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1602A>G (p.Ala534=) single nucleotide variant CFTR-related disorder [RCV001163394]|Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001593302]|Cystic fibrosis [RCV001399216] Chr7:117587756 [GRCh38]
Chr7:117227810 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.*482C>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002480571]|CFTR-related disorder [RCV001163593] Chr7:117667590 [GRCh38]
Chr7:117307644 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.234dup (p.Trp79fs) duplication Bronchiectasis with or without elevated sweat chloride 1 [RCV004570403]|CFTR-related disorder [RCV001833737]|Cystic fibrosis [RCV001192431] Chr7:117509102..117509103 [GRCh38]
Chr7:117149156..117149157 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3335T>G (p.Ile1112Ser) single nucleotide variant Cystic fibrosis [RCV002560153]|not specified [RCV001192460] Chr7:117611776 [GRCh38]
Chr7:117251830 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.712G>C (p.Ala238Pro) single nucleotide variant CFTR-related disorder [RCV001828593]|not specified [RCV001192461] Chr7:117535380 [GRCh38]
Chr7:117175434 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.228T>G (p.Cys76Trp) single nucleotide variant CFTR-related disorder [RCV001827189]|Cystic fibrosis [RCV001050257]|not specified [RCV003331022] Chr7:117509097 [GRCh38]
Chr7:117149151 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3873+12G>C single nucleotide variant CFTR-related disorder [RCV001158874] Chr7:117642605 [GRCh38]
Chr7:117282659 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.*1492A>G single nucleotide variant CFTR-related disorder [RCV001158972] Chr7:117668600 [GRCh38]
Chr7:117308654 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2863T>G (p.Ser955Ala) single nucleotide variant Cystic fibrosis [RCV002319622] Chr7:117603737 [GRCh38]
Chr7:117243791 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.551T>G (p.Leu184Arg) single nucleotide variant Cystic fibrosis [RCV001175244] Chr7:117534337 [GRCh38]
Chr7:117174391 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2982C>A (p.Phe994Leu) single nucleotide variant CFTR-related disorder [RCV001827193]|Cystic fibrosis [RCV001048747]|not specified [RCV001824914] Chr7:117606747 [GRCh38]
Chr7:117246801 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.212A>G (p.Asn71Ser) single nucleotide variant CFTR-related disorder [RCV001833924]|Cystic fibrosis [RCV001222064]|not specified [RCV001824938] Chr7:117509081 [GRCh38]
Chr7:117149135 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4439T>C (p.Leu1480Pro) single nucleotide variant CFTR-related disorder [RCV001160219]|Cystic fibrosis [RCV001242808]|not provided [RCV003148938]|not specified [RCV003994223] Chr7:117667104 [GRCh38]
Chr7:117307158 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.980T>G (p.Leu327Arg) single nucleotide variant CFTR-related disorder [RCV001828586]|Cystic fibrosis [RCV001241079]|not specified [RCV001174738] Chr7:117540210 [GRCh38]
Chr7:117180264 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.307G>A (p.Gly103Arg) single nucleotide variant Cystic fibrosis [RCV002372735] Chr7:117530932 [GRCh38]
Chr7:117170986 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.184G>A (p.Ala62Thr) single nucleotide variant Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001580664]|Cystic fibrosis [RCV001580663] Chr7:117509053 [GRCh38]
Chr7:117149107 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2620-674_3367+232del deletion Cystic fibrosis [RCV001682618] Chr7:117602152..117612040 [GRCh38]
Chr7:117242206..117252094 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3873+2194A>G single nucleotide variant Cystic fibrosis [RCV001682629] Chr7:117644787 [GRCh38]
Chr7:117284841 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.335A>G (p.Asp112Gly) single nucleotide variant CFTR-related disorder [RCV001827151]|Cystic fibrosis [RCV001246603]|not provided [RCV001811583] Chr7:117530960 [GRCh38]
Chr7:117171014 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1546_1548delinsT (p.Arg516fs) indel Cystic fibrosis [RCV001172495] Chr7:117559617..117559619 [GRCh38]
Chr7:117199671..117199673 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.2908+138C>T single nucleotide variant not provided [RCV001590496] Chr7:117603920 [GRCh38]
Chr7:117243974 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.580-2A>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004570114]|Cystic fibrosis [RCV001038806] Chr7:117535246 [GRCh38]
Chr7:117175300 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3134C>A (p.Ser1045Tyr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473719]|Cystic fibrosis [RCV001174678] Chr7:117610664 [GRCh38]
Chr7:117250718 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3064G>C (p.Val1022Leu) single nucleotide variant CFTR-related disorder [RCV001828587]|Cystic fibrosis [RCV001873653]|not specified [RCV001174828] Chr7:117610594 [GRCh38]
Chr7:117250648 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.62G>T (p.Arg21Ile) single nucleotide variant Cystic fibrosis [RCV001044682] Chr7:117504261 [GRCh38]
Chr7:117144315 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.580-159G>A single nucleotide variant not provided [RCV001640881] Chr7:117535089 [GRCh38]
Chr7:117175143 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.869+233C>A single nucleotide variant not provided [RCV001612212] Chr7:117536906 [GRCh38]
Chr7:117176960 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.54-177T>A single nucleotide variant not provided [RCV001589889] Chr7:117504076 [GRCh38]
Chr7:117144130 [GRCh37]
Chr7:7q31.2
likely benign
Single allele insertion Cystic fibrosis [RCV001089832] Chr7:7q31.2 pathogenic
NM_000492.4(CFTR):c.1315C>A (p.Pro439Thr) single nucleotide variant Cystic fibrosis [RCV002318939] Chr7:117548746 [GRCh38]
Chr7:117188800 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.14:g.(?_117614603)_(117614764_?)del deletion Cystic fibrosis [RCV001031057] Chr7:117254657..117254818 [GRCh37]
Chr7:7q31.2
pathogenic
NC_000007.14:g.(?_117602729)_(117627815_?)dup duplication Cystic fibrosis [RCV001031472] Chr7:117242783..117267869 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.14:g.(?_117664660)_(117665584_?)del deletion Cystic fibrosis [RCV001032535] Chr7:117304714..117305638 [GRCh37]
Chr7:7q31.2
pathogenic
NC_000007.14:g.(?_116699075)_(117667118_?)del deletion Papillary renal cell carcinoma type 1 [RCV001032957] Chr7:116339129..117307172 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.14:g.(?_117504240)_(117509152_?)del deletion Cystic fibrosis [RCV001033032] Chr7:117144294..117149206 [GRCh37]
Chr7:7q31.2
pathogenic
NC_000007.14:g.(?_117587720)_(117614723_?)del deletion Cystic fibrosis [RCV001033454] Chr7:117227774..117254777 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.*328A>G single nucleotide variant CFTR-related disorder [RCV001163592] Chr7:117667436 [GRCh38]
Chr7:117307490 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1840G>A (p.Asp614Asn) single nucleotide variant CFTR-related disorder [RCV001163686]|Cystic fibrosis [RCV003507355] Chr7:117592007 [GRCh38]
Chr7:117232061 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3037C>T (p.Pro1013Ser) single nucleotide variant CFTR-related disorder [RCV001828605]|Cystic fibrosis [RCV002436767]|not specified [RCV001194368] Chr7:117610567 [GRCh38]
Chr7:117250621 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.134C>G (p.Ser45Cys) single nucleotide variant CFTR-related disorder [RCV001828606]|not specified [RCV001194369] Chr7:117504333 [GRCh38]
Chr7:117144387 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1420G>T (p.Glu474Ter) single nucleotide variant Cystic fibrosis [RCV001236737]|not provided [RCV001269768] Chr7:117559491 [GRCh38]
Chr7:117199545 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.117A>T (p.Gln39His) single nucleotide variant Cystic fibrosis [RCV001040237]|not specified [RCV001732021] Chr7:117504316 [GRCh38]
Chr7:117144370 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3794G>A (p.Gly1265Glu) single nucleotide variant Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV004803397]|Cystic fibrosis [RCV001042888] Chr7:117642514 [GRCh38]
Chr7:117282568 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance
NM_000492.4(CFTR):c.3441A>G (p.Val1147=) single nucleotide variant Cystic fibrosis [RCV001429741]|not specified [RCV001002658] Chr7:117614686 [GRCh38]
Chr7:117254740 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.264A>C (p.Leu88Phe) single nucleotide variant CFTR-related disorder [RCV001834032]|Cystic fibrosis [RCV001234763]|not provided [RCV001530071] Chr7:117509133 [GRCh38]
Chr7:117149187 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1009T>C (p.Phe337Leu) single nucleotide variant CFTR-related disorder [RCV001828921]|Cystic fibrosis [RCV001239483] Chr7:117540239 [GRCh38]
Chr7:117180293 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4037T>A (p.Leu1346Gln) single nucleotide variant Cystic fibrosis [RCV001200887] Chr7:117664761 [GRCh38]
Chr7:117304815 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2183C>T (p.Ser728Phe) single nucleotide variant CFTR-related disorder [RCV001827187]|Cystic fibrosis [RCV002319210] Chr7:117592350 [GRCh38]
Chr7:117232404 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2219C>T (p.Pro740Leu) single nucleotide variant CFTR-related disorder [RCV001827188]|Cystic fibrosis [RCV002319212] Chr7:117592386 [GRCh38]
Chr7:117232440 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.441C>G (p.His147Gln) single nucleotide variant CFTR-related disorder [RCV001828969]|Cystic fibrosis [RCV001241142]|not provided [RCV001310595] Chr7:117531066 [GRCh38]
Chr7:117171120 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4081C>G (p.Leu1361Val) single nucleotide variant CFTR-related disorder [RCV001827336]|Cystic fibrosis [RCV001053209] Chr7:117664805 [GRCh38]
Chr7:117304859 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1210-11_1210-10insGT insertion Cystic fibrosis [RCV002318924] Chr7:117548629..117548630 [GRCh38]
Chr7:117188683..117188684 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1258A>G (p.Lys420Glu) single nucleotide variant CFTR-related disorder [RCV001836064]|Cystic fibrosis [RCV002318931] Chr7:117548689 [GRCh38]
Chr7:117188743 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1150G>T (p.Glu384Ter) single nucleotide variant Cystic fibrosis [RCV001250526] Chr7:117542049 [GRCh38]
Chr7:117182103 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.744-9_744-8insGATT insertion not specified [RCV001000867] Chr7:117536539..117536540 [GRCh38]
Chr7:117176593..117176594 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.3368-30G>C single nucleotide variant not specified [RCV001001663] Chr7:117614583 [GRCh38]
Chr7:117254637 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4396G>T (p.Ala1466Ser) single nucleotide variant CFTR-related disorder [RCV001832500]|Cystic fibrosis [RCV001055108]|not provided [RCV003478681] Chr7:117667061 [GRCh38]
Chr7:117307115 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.*233C>T single nucleotide variant CFTR-related disorder [RCV001163591] Chr7:117667341 [GRCh38]
Chr7:117307395 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2565C>G (p.Val855=) single nucleotide variant Cystic fibrosis [RCV002071854]|not specified [RCV001199888] Chr7:117595004 [GRCh38]
Chr7:117235058 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1287C>A (p.Phe429Leu) single nucleotide variant CFTR-related disorder [RCV001835103]|Cystic fibrosis [RCV001241432] Chr7:117548718 [GRCh38]
Chr7:117188772 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3303G>A (p.Met1101Ile) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002479350]|Cystic fibrosis [RCV001057363] Chr7:117611744 [GRCh38]
Chr7:117251798 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.*682A>G single nucleotide variant CFTR-related disorder [RCV001163904] Chr7:117667790 [GRCh38]
Chr7:117307844 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.*926G>A single nucleotide variant CFTR-related disorder [RCV001163907] Chr7:117668034 [GRCh38]
Chr7:117308088 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.*954A>C single nucleotide variant CFTR-related disorder [RCV001163908] Chr7:117668062 [GRCh38]
Chr7:117308116 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2120C>G (p.Ser707Cys) single nucleotide variant CFTR-related disorder [RCV001835130]|Cystic fibrosis [RCV001242511] Chr7:117592287 [GRCh38]
Chr7:117232341 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3859G>T (p.Gly1287Ter) single nucleotide variant Cystic fibrosis [RCV001213927] Chr7:117642579 [GRCh38]
Chr7:117282633 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3762A>T (p.Leu1254Phe) single nucleotide variant CFTR-related disorder [RCV001836235]|Cystic fibrosis [RCV001245313]|not provided [RCV001283968] Chr7:117642482 [GRCh38]
Chr7:117282536 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2989-664C>G single nucleotide variant not provided [RCV001171869] Chr7:117609855 [GRCh38]
Chr7:117249909 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2989-422G>T single nucleotide variant not provided [RCV001171870] Chr7:117610097 [GRCh38]
Chr7:117250151 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.630C>T (p.Leu210=) single nucleotide variant Cystic fibrosis [RCV002354938] Chr7:117535298 [GRCh38]
Chr7:117175352 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2963C>T (p.Pro988Leu) single nucleotide variant CFTR-related disorder [RCV001835271]|Cystic fibrosis [RCV001246537] Chr7:117606728 [GRCh38]
Chr7:117246782 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3849G>C (p.Arg1283Ser) single nucleotide variant CFTR-related disorder [RCV001830007]|Cystic fibrosis [RCV001247277]|not specified [RCV003331090] Chr7:117642569 [GRCh38]
Chr7:117282623 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance
NM_000492.4(CFTR):c.2387T>C (p.Leu796Pro) single nucleotide variant Cystic fibrosis [RCV001066354] Chr7:117592554 [GRCh38]
Chr7:117232608 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.775C>T (p.Leu259Phe) single nucleotide variant CFTR-related disorder [RCV001835224]|Cystic fibrosis [RCV001245100] Chr7:117536579 [GRCh38]
Chr7:117176633 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1332T>G (p.Ile444Met) single nucleotide variant Cystic fibrosis [RCV001203316] Chr7:117548763 [GRCh38]
Chr7:117188817 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1681G>A (p.Ala561Thr) single nucleotide variant CFTR-related disorder [RCV001827180]|Cystic fibrosis [RCV001785764]|not specified [RCV001192433] Chr7:117590354 [GRCh38]
Chr7:117230408 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.14:g.(?_117548631)_(117548835_?)del deletion Cystic fibrosis [RCV001032333] Chr7:117188685..117188889 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1766+3A>T single nucleotide variant Cystic fibrosis [RCV001275236] Chr7:117590442 [GRCh38]
Chr7:117230496 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.178G>C (p.Glu60Gln) single nucleotide variant Cystic fibrosis [RCV002319174] Chr7:117509047 [GRCh38]
Chr7:117149101 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.184G>C (p.Ala62Pro) single nucleotide variant CFTR-related disorder [RCV001832336]|Cystic fibrosis [RCV001305664]|not specified [RCV002509590] Chr7:117509053 [GRCh38]
Chr7:117149107 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3014dup (p.Ala1006fs) duplication Cystic fibrosis [RCV001039049] Chr7:117610543..117610544 [GRCh38]
Chr7:117250597..117250598 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.*133T>A single nucleotide variant CFTR-related disorder [RCV001163590] Chr7:117667241 [GRCh38]
Chr7:117307295 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1154A>G (p.Tyr385Cys) single nucleotide variant Cystic fibrosis [RCV001043484] Chr7:117542053 [GRCh38]
Chr7:117182107 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3406G>A (p.Ala1136Thr) single nucleotide variant CFTR-related disorder [RCV001828777]|Cystic fibrosis [RCV001223100]|not provided [RCV004768935]|not specified [RCV003235503] Chr7:117614651 [GRCh38]
Chr7:117254705 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance
NM_000492.4(CFTR):c.2490+12T>A single nucleotide variant CFTR-related disorder [RCV001158763]|Cystic fibrosis [RCV002070959] Chr7:117592669 [GRCh38]
Chr7:117232723 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.1528G>T (p.Val510Phe) single nucleotide variant Cystic fibrosis [RCV001048996] Chr7:117559599 [GRCh38]
Chr7:117199653 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.870-4A>G single nucleotide variant Cystic fibrosis [RCV001410315]|not specified [RCV001175409] Chr7:117540096 [GRCh38]
Chr7:117180150 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.4136+3G>A single nucleotide variant Cystic fibrosis [RCV001272367] Chr7:117664863 [GRCh38]
Chr7:117304917 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4151T>C (p.Ile1384Thr) single nucleotide variant Cystic fibrosis [RCV002319325] Chr7:117665473 [GRCh38]
Chr7:117305527 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2153C>G (p.Pro718Arg) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002497338]|CFTR-related disorder [RCV001832337]|Cystic fibrosis [RCV001785766]|not provided [RCV003478621]|not specified [RCV001193706] Chr7:117592320 [GRCh38]
Chr7:117232374 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1210-11delinsGTG indel Cystic fibrosis [RCV001380567]|Cystic fibrosis [RCV004796349]|not provided [RCV001546245] Chr7:117548630 [GRCh38]
Chr7:117188684 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2988+2T>C single nucleotide variant Cystic fibrosis [RCV001250570] Chr7:117606755 [GRCh38]
Chr7:117246809 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.70T>G (p.Leu24Val) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002480798]|CFTR-related disorder [RCV001828955]|Cystic fibrosis [RCV001240548]|not provided [RCV002480799] Chr7:117504269 [GRCh38]
Chr7:117144323 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2474A>G (p.Asn825Ser) single nucleotide variant Cystic fibrosis [RCV001275771] Chr7:117592641 [GRCh38]
Chr7:117232695 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2955C>A (p.Asp985Glu) single nucleotide variant CFTR-related disorder [RCV001160124] Chr7:117606720 [GRCh38]
Chr7:117246774 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2626G>A (p.Ala876Thr) single nucleotide variant CFTR-related disorder [RCV001834132]|Cystic fibrosis [RCV001240834] Chr7:117602832 [GRCh38]
Chr7:117242886 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3667G>A (p.Gly1223Arg) single nucleotide variant CFTR-related disorder [RCV001827368]|Cystic fibrosis [RCV001058456]|not provided [RCV002479355] Chr7:117627720 [GRCh38]
Chr7:117267774 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.*115A>T single nucleotide variant CFTR-related disorder [RCV001160221] Chr7:117667223 [GRCh38]
Chr7:117307277 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3874-105T>G single nucleotide variant Cystic fibrosis [RCV001009334] Chr7:117652737 [GRCh38]
Chr7:117292791 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.3964-283T>C single nucleotide variant Cystic fibrosis [RCV001009344] Chr7:117664405 [GRCh38]
Chr7:117304459 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.2752A>T (p.Ile918Phe) single nucleotide variant Cystic fibrosis [RCV001061525]|not provided [RCV003480941] Chr7:117603626 [GRCh38]
Chr7:117243680 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2777T>C (p.Leu926Ser) single nucleotide variant CFTR-related disorder [RCV001836147]|Cystic fibrosis [RCV001209202]|not provided [RCV001812252]|not specified [RCV003317450] Chr7:117603651 [GRCh38]
Chr7:117243705 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1219G>A (p.Glu407Lys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002491589]|CFTR-related disorder [RCV001833747]|Cystic fibrosis [RCV001243035]|not specified [RCV001193708] Chr7:117548650 [GRCh38]
Chr7:117188704 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.*133dup duplication Cystic fibrosis [RCV001009353] Chr7:117667232..117667233 [GRCh38]
Chr7:117307286..117307287 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.2989-81del deletion Cystic fibrosis [RCV001009354] Chr7:117610426 [GRCh38]
Chr7:117250480 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.53+3158A>G single nucleotide variant Cystic fibrosis [RCV001009363] Chr7:117483305 [GRCh38]
Chr7:117123359 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.4136+5G>A single nucleotide variant CFTR-related disorder [RCV001832329]|Cystic fibrosis [RCV001009421] Chr7:117664865 [GRCh38]
Chr7:117304919 [GRCh37]
Chr7:7q31.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.1904del (p.Asn635fs) deletion Cystic fibrosis [RCV001009433] Chr7:117592068 [GRCh38]
Chr7:117232122 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2443del (p.Glu815fs) deletion Cystic fibrosis [RCV001009464] Chr7:117592610 [GRCh38]
Chr7:117232664 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2684G>C (p.Ser895Thr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002505528]|CFTR-related disorder [RCV001158766]|Cystic fibrosis [RCV001055324]|not provided [RCV002479190]|not specified [RCV001000698] Chr7:117603558 [GRCh38]
Chr7:117243612 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1407G>A (p.Met469Ile) single nucleotide variant CFTR-related disorder [RCV001827153]|not specified [RCV001001192] Chr7:117559478 [GRCh38]
Chr7:117199532 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3521A>C (p.Lys1174Thr) single nucleotide variant CFTR-related disorder [RCV001833635]|Cystic fibrosis [RCV001065261]|not specified [RCV004702623] Chr7:117627574 [GRCh38]
Chr7:117267628 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.127G>A (p.Val43Ile) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002497321]|CFTR-related disorder [RCV001161751]|Cystic fibrosis [RCV001246599]|not provided [RCV003478604]|not specified [RCV001002488] Chr7:117504326 [GRCh38]
Chr7:117144380 [GRCh37]
Chr7:7q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000492.4(CFTR):c.3723C>A (p.Gly1241=) single nucleotide variant Cystic fibrosis [RCV001482730]|not provided [RCV003886466] Chr7:117642443 [GRCh38]
Chr7:117282497 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.136G>A (p.Ala46Thr) single nucleotide variant Cystic fibrosis [RCV002319140] Chr7:117504335 [GRCh38]
Chr7:117144389 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.587C>T (p.Ala196Val) single nucleotide variant Cystic fibrosis [RCV001068175] Chr7:117535255 [GRCh38]
Chr7:117175309 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3859G>A (p.Gly1287Arg) single nucleotide variant Cystic fibrosis [RCV001068414]|not specified [RCV003230633] Chr7:117642579 [GRCh38]
Chr7:117282633 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.232T>C (p.Phe78Leu) single nucleotide variant CFTR-related disorder [RCV001161753]|Cystic fibrosis [RCV002445403] Chr7:117509101 [GRCh38]
Chr7:117149155 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1310G>A (p.Gly437Asp) single nucleotide variant Cystic fibrosis [RCV001070714]|not provided [RCV001283963] Chr7:117548741 [GRCh38]
Chr7:117188795 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.14:g.(?_117610509)_(117611818_?)del deletion Cystic fibrosis [RCV001031751] Chr7:117250563..117251872 [GRCh37]
Chr7:7q31.2
pathogenic
NC_000007.14:g.(?_117509024)_(117509152_?)dup duplication Cystic fibrosis [RCV001032390] Chr7:117149078..117149206 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.4251A>C (p.Glu1417Asp) single nucleotide variant CFTR-related disorder [RCV001833975]|Cystic fibrosis [RCV001228597] Chr7:117666916 [GRCh38]
Chr7:117306970 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3139G>A (p.Gly1047Ser) single nucleotide variant CFTR-related disorder [RCV001828768]|Cystic fibrosis [RCV001221733] Chr7:117610669 [GRCh38]
Chr7:117250723 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.14:g.(?_117530889)_(117540356_?)del deletion Cystic fibrosis [RCV001033455] Chr7:117170943..117180410 [GRCh37]
Chr7:7q31.2
likely pathogenic
NC_000007.14:g.(?_117504240)_(117531201_?)del deletion Cystic fibrosis [RCV001033548] Chr7:117144294..117171255 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3174C>T (p.Ser1058=) single nucleotide variant Cystic fibrosis [RCV001254610] Chr7:117611615 [GRCh38]
Chr7:117251669 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1490T>G (p.Ile497Ser) single nucleotide variant Cystic fibrosis [RCV001254613] Chr7:117559561 [GRCh38]
Chr7:117199615 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.609C>T (p.Ile203=) single nucleotide variant Cystic fibrosis [RCV001254621] Chr7:117535277 [GRCh38]
Chr7:117175331 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.978A>G (p.Ala326=) single nucleotide variant CFTR-related disorder [RCV001835349]|Cystic fibrosis [RCV001463476] Chr7:117540208 [GRCh38]
Chr7:117180262 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3465C>G (p.Ser1155Arg) single nucleotide variant Cystic fibrosis [RCV004607542] Chr7:117614710 [GRCh38]
Chr7:117254764 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4249G>C (p.Glu1417Gln) single nucleotide variant Cystic fibrosis [RCV004607541] Chr7:117666914 [GRCh38]
Chr7:117306968 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.245T>C (p.Met82Thr) single nucleotide variant Cystic fibrosis [RCV004607540] Chr7:117509114 [GRCh38]
Chr7:117149168 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3456T>C (p.Asp1152=) single nucleotide variant Cystic fibrosis [RCV004607570] Chr7:117614701 [GRCh38]
Chr7:117254755 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2637_2644del (p.Val880fs) deletion Cystic fibrosis [RCV002284240] Chr7:117602841..117602848 [GRCh38]
Chr7:117242895..117242902 [GRCh37]
Chr7:7q31.2
pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000492.4:c.(2988+1_2989-1)_(3468+1_3469-1)del deletion Cystic fibrosis [RCV002284513]   pathogenic
NM_000492.4(CFTR):c.1589T>A (p.Ile530Asn) single nucleotide variant Cystic fibrosis [RCV002284521]|not specified [RCV003324014] Chr7:117587743 [GRCh38]
Chr7:117227797 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance
NM_000492.4(CFTR):c.1709T>C (p.Leu570Ser) single nucleotide variant Cystic fibrosis [RCV002284523] Chr7:117590382 [GRCh38]
Chr7:117230436 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.288_296del (p.Val97_Pro99del) deletion Cystic fibrosis [RCV002284528] Chr7:117530912..117530920 [GRCh38]
Chr7:117170966..117170974 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.221G>C (p.Arg74Pro) single nucleotide variant Cystic fibrosis [RCV002284534] Chr7:117509090 [GRCh38]
Chr7:117149144 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.2739T>G (p.Tyr913Ter) single nucleotide variant Cystic fibrosis [RCV002284537] Chr7:117603613 [GRCh38]
Chr7:117243667 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3525_3537del (p.Thr1176fs) deletion Cystic fibrosis [RCV002284539] Chr7:117627574..117627586 [GRCh38]
Chr7:117267628..117267640 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3469-1G>C single nucleotide variant Cystic fibrosis [RCV002284544] Chr7:117627521 [GRCh38]
Chr7:117267575 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3725T>A (p.Leu1242His) single nucleotide variant Cystic fibrosis [RCV002284549] Chr7:117642445 [GRCh38]
Chr7:117282499 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4:c.(3468+1_3469-1)_(3717+1_3718-1)del deletion Cystic fibrosis [RCV002284555]   pathogenic
NM_000492.4(CFTR):c.71T>A (p.Leu24Ter) single nucleotide variant Cystic fibrosis [RCV002284583] Chr7:117504270 [GRCh38]
Chr7:117144324 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.748C>T (p.Gln250Ter) single nucleotide variant Cystic fibrosis [RCV002284584] Chr7:117536552 [GRCh38]
Chr7:117176606 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1116+2T>A single nucleotide variant Cystic fibrosis [RCV002284599] Chr7:117540348 [GRCh38]
Chr7:117180402 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4:c.(273+1_274-1)_(1209+1_1210-1)dup duplication Cystic fibrosis [RCV002284608]   uncertain significance
NM_000492.4:c.(273+1_274-1)_(1584+1_1585-1)del deletion Cystic fibrosis [RCV002284609]   pathogenic
NM_000492.4(CFTR):c.1766+33C>T single nucleotide variant not provided [RCV001284131] Chr7:117590472 [GRCh38]
Chr7:117230526 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1079C>A (p.Thr360Lys) single nucleotide variant Cystic fibrosis [RCV002420286]|not specified [RCV001293472] Chr7:117540309 [GRCh38]
Chr7:117180363 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance
NM_000492.4(CFTR):c.2131T>C (p.Phe711Leu) single nucleotide variant Cystic fibrosis [RCV001304358] Chr7:117592298 [GRCh38]
Chr7:117232352 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.490-25A>G single nucleotide variant Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001331278] Chr7:117534251 [GRCh38]
Chr7:117174305 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.14:g.(117246808_117250572)_(117254768_117267575)del deletion Cystic fibrosis [RCV001255497] Chr7:117250572..117254768 [GRCh38]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3555C>G (p.Gly1185=) single nucleotide variant Cystic fibrosis [RCV004607569] Chr7:117627608 [GRCh38]
Chr7:117267662 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1584+1179A>G single nucleotide variant Cystic fibrosis [RCV001804218] Chr7:117560834 [GRCh38]
Chr7:117200888 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3883_3884insG (p.Ile1295fs) insertion CFTR-related disorder [RCV001836252]|Cystic fibrosis [RCV001260428] Chr7:117652851..117652852 [GRCh38]
Chr7:117292905..117292906 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3641A>T (p.Asp1214Val) single nucleotide variant Cystic fibrosis [RCV001278583] Chr7:117627694 [GRCh38]
Chr7:117267748 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4030T>G (p.Cys1344Gly) single nucleotide variant Cystic fibrosis [RCV001278585] Chr7:117664754 [GRCh38]
Chr7:117304808 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1731C>A (p.Tyr577Ter) single nucleotide variant Cystic fibrosis [RCV001263575] Chr7:117590404 [GRCh38]
Chr7:117230458 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1861G>T (p.Glu621Ter) single nucleotide variant Cystic fibrosis [RCV001263576] Chr7:117592028 [GRCh38]
Chr7:117232082 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1969A>T (p.Arg657Ter) single nucleotide variant Cystic fibrosis [RCV001263577] Chr7:117592136 [GRCh38]
Chr7:117232190 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.1997T>A (p.Leu666Ter) single nucleotide variant Cystic fibrosis [RCV001263578] Chr7:117592164 [GRCh38]
Chr7:117232218 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.2410G>T (p.Glu804Ter) single nucleotide variant Cystic fibrosis [RCV001263579] Chr7:117592577 [GRCh38]
Chr7:117232631 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.2426C>A (p.Ser809Ter) single nucleotide variant Cystic fibrosis [RCV001263580] Chr7:117592593 [GRCh38]
Chr7:117232647 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.2617G>T (p.Glu873Ter) single nucleotide variant Cystic fibrosis [RCV001263581] Chr7:117595056 [GRCh38]
Chr7:117235110 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.2646G>A (p.Trp882Ter) single nucleotide variant Cystic fibrosis [RCV001263582] Chr7:117602852 [GRCh38]
Chr7:117242906 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3682G>T (p.Glu1228Ter) single nucleotide variant Cystic fibrosis [RCV001263869] Chr7:117627735 [GRCh38]
Chr7:117267789 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3845G>A (p.Trp1282Ter) single nucleotide variant Cystic fibrosis [RCV001263870] Chr7:117642565 [GRCh38]
Chr7:117282619 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3949A>T (p.Lys1317Ter) single nucleotide variant Cystic fibrosis [RCV001263871] Chr7:117652917 [GRCh38]
Chr7:117292971 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.4054C>T (p.Gln1352Ter) single nucleotide variant Cystic fibrosis [RCV001263872] Chr7:117664778 [GRCh38]
Chr7:117304832 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3267G>A (p.Trp1089Ter) single nucleotide variant Cystic fibrosis [RCV001263867] Chr7:117611708 [GRCh38]
Chr7:117251762 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3587C>A (p.Ser1196Ter) single nucleotide variant Cystic fibrosis [RCV001263868] Chr7:117627640 [GRCh38]
Chr7:117267694 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.817A>T (p.Lys273Ter) single nucleotide variant Cystic fibrosis [RCV001264354] Chr7:117536621 [GRCh38]
Chr7:117176675 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.553dup (p.Ser185fs) duplication Cystic fibrosis [RCV004783284] Chr7:117534336..117534337 [GRCh38]
Chr7:117174390..117174391 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2081G>A (p.Gly694Glu) single nucleotide variant not specified [RCV004782158] Chr7:117592248 [GRCh38]
Chr7:117232302 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2909-1G>C single nucleotide variant Cystic fibrosis [RCV001261552] Chr7:117606673 [GRCh38]
Chr7:117246727 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.269T>A (p.Leu90Ter) single nucleotide variant Cystic fibrosis [RCV001264350] Chr7:117509138 [GRCh38]
Chr7:117149192 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.741C>A (p.Tyr247Ter) single nucleotide variant Cystic fibrosis [RCV001264351] Chr7:117535409 [GRCh38]
Chr7:117175463 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.742A>T (p.Arg248Ter) single nucleotide variant Cystic fibrosis [RCV001264352] Chr7:117535410 [GRCh38]
Chr7:117175464 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.751A>T (p.Arg251Ter) single nucleotide variant Cystic fibrosis [RCV001264353] Chr7:117536555 [GRCh38]
Chr7:117176609 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1447A>T (p.Lys483Ter) single nucleotide variant Cystic fibrosis [RCV001264355] Chr7:117559518 [GRCh38]
Chr7:117199572 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1488G>A (p.Trp496Ter) single nucleotide variant Cystic fibrosis [RCV001264356] Chr7:117559559 [GRCh38]
Chr7:117199613 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1540G>T (p.Glu514Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005040108]|Cystic fibrosis [RCV001264357] Chr7:117559611 [GRCh38]
Chr7:117199665 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.54-5939G>T single nucleotide variant not specified [RCV001264515] Chr7:117498314 [GRCh38]
Chr7:117138368 [GRCh37]
Chr7:7q31.2
likely benign
NC_000007.14:g.(117606754_117610518)_(117614714_117627521)del deletion Cystic fibrosis [RCV001261505] Chr7:117250572..117254768 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.394_398del (p.Ile132fs) deletion not provided [RCV001812959] Chr7:117531018..117531022 [GRCh38]
Chr7:117171072..117171076 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1116+32T>C single nucleotide variant not provided [RCV001813080] Chr7:117540378 [GRCh38]
Chr7:117180432 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3963+15T>C single nucleotide variant Cystic fibrosis [RCV002069494]|not specified [RCV001280602] Chr7:117652946 [GRCh38]
Chr7:117293000 [GRCh37]
Chr7:7q31.2
pathogenic|likely benign|uncertain significance
NM_000492.4(CFTR):c.870-12T>A single nucleotide variant Cystic fibrosis [RCV002284239] Chr7:117540088 [GRCh38]
Chr7:117180142 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.613_870-1547del deletion Cystic fibrosis [RCV002284245] Chr7:117535279..117538551 [GRCh38]
Chr7:117175333..117178605 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2743_2745delinsA (p.Val915fs) indel Cystic fibrosis [RCV002284249] Chr7:117603617..117603619 [GRCh38]
Chr7:117243671..117243673 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1244del (p.Asn415fs) deletion Cystic fibrosis [RCV002284516] Chr7:117548672 [GRCh38]
Chr7:117188726 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance
NM_000492.4(CFTR):c.253_255del (p.Gly85del) deletion Cystic fibrosis [RCV002284536] Chr7:117509122..117509124 [GRCh38]
Chr7:117149176..117149178 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3389_3402del (p.Gly1130fs) deletion Cystic fibrosis [RCV002284542] Chr7:117614634..117614647 [GRCh38]
Chr7:117254688..117254701 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3469-2A>C single nucleotide variant Cystic fibrosis [RCV002284547] Chr7:117627520 [GRCh38]
Chr7:117267574 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.4007_4010del (p.Asp1336fs) deletion Cystic fibrosis [RCV002284558] Chr7:117664731..117664734 [GRCh38]
Chr7:117304785..117304788 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4:c.(53+1_54-1)_(1209+1_1210+1)del deletion Cystic fibrosis [RCV002284561]   pathogenic
NM_000492.4(CFTR):c.1209G>T (p.Glu403Asp) single nucleotide variant Cystic fibrosis [RCV002284570] Chr7:117542108 [GRCh38]
Chr7:117182162 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1756A>G (p.Ile586Val) single nucleotide variant Cystic fibrosis [RCV002284575]|not specified [RCV003317587] Chr7:117590429 [GRCh38]
Chr7:117230483 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3930G>A (p.Trp1310Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005032221]|Cystic fibrosis [RCV002284591] Chr7:117652898 [GRCh38]
Chr7:117292952 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.206T>G (p.Leu69Arg) single nucleotide variant Cystic fibrosis [RCV002284597] Chr7:117509075 [GRCh38]
Chr7:117149129 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3874-5122_3963+733del deletion Megacolon [RCV001290058] Chr7:117647720..117653664 [GRCh38]
Chr7:117287774..117293718 [GRCh37]
Chr7:7q31.2
uncertain significance
GRCh37/hg19 7q31.2(chr7:117164812-117265440)x1 copy number loss not provided [RCV001258968] Chr7:117164812..117265440 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1652G>T (p.Gly551Val) single nucleotide variant Cystic fibrosis [RCV001807991] Chr7:117587806 [GRCh38]
Chr7:117227860 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3874-2A>C single nucleotide variant Cystic fibrosis [RCV001260358] Chr7:117652840 [GRCh38]
Chr7:117292894 [GRCh37]
Chr7:7q31.2
likely pathogenic
NC_000007.13:g.(117230494_117231987)_(117243837_117246727)dup duplication Cystic fibrosis [RCV004783459] Chr7:117231987..117243837 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1934T>C (p.Met645Thr) single nucleotide variant CFTR-related disorder [RCV001836253]|Cystic fibrosis [RCV002411929]|Hereditary pancreatitis [RCV002290681]|not provided [RCV001812331] Chr7:117592101 [GRCh38]
Chr7:117232155 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3157A>T (p.Thr1053Ser) single nucleotide variant CFTR-related disorder [RCV001831073]|Cystic fibrosis [RCV001341600] Chr7:117611598 [GRCh38]
Chr7:117251652 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2929T>G (p.Ser977Ala) single nucleotide variant CFTR-related disorder [RCV001830158]|Cystic fibrosis [RCV001299231] Chr7:117606694 [GRCh38]
Chr7:117246748 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1993A>T (p.Thr665Ser) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005040129]|Cystic fibrosis [RCV001283850]|not provided [RCV003481052]|not specified [RCV004800960] Chr7:117592160 [GRCh38]
Chr7:117232214 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance
NM_000492.4(CFTR):c.1392+12G>T single nucleotide variant Cystic fibrosis [RCV002393685]|not provided [RCV001283964] Chr7:117548835 [GRCh38]
Chr7:117188889 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.4105C>G (p.Leu1369Val) single nucleotide variant not provided [RCV001283969] Chr7:117664829 [GRCh38]
Chr7:117304883 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.53+160_53+161del deletion not provided [RCV001283973] Chr7:117480306..117480307 [GRCh38]
Chr7:117120360..117120361 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1444A>G (p.Ile482Val) single nucleotide variant CFTR-related disorder [RCV001831079]|Cystic fibrosis [RCV001342083] Chr7:117559515 [GRCh38]
Chr7:117199569 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2764G>A (p.Val922Ile) single nucleotide variant Cystic fibrosis [RCV001348749] Chr7:117603638 [GRCh38]
Chr7:117243692 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.389T>C (p.Leu130Pro) single nucleotide variant Congenital bilateral aplasia of vas deferens from CFTR mutation [RCV001331275]|Cystic fibrosis [RCV001800983]|not provided [RCV002261343] Chr7:117531014 [GRCh38]
Chr7:117171068 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.364T>A (p.Tyr122Asn) single nucleotide variant CFTR-related disorder [RCV001835583]|Cystic fibrosis [RCV001317984] Chr7:117530989 [GRCh38]
Chr7:117171043 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1075C>A (p.Gln359Lys) single nucleotide variant Cystic fibrosis [RCV002415404]|Hereditary pancreatitis [RCV002247262]|not specified [RCV001293471] Chr7:117540305 [GRCh38]
Chr7:117180359 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic|uncertain significance
NM_000492.4(CFTR):c.2546A>G (p.Tyr849Cys) single nucleotide variant CFTR-related disorder [RCV001830235]|Cystic fibrosis [RCV001306954] Chr7:117594985 [GRCh38]
Chr7:117235039 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.13:g.(?_117242783)_(117267869_?)dup duplication Cystic fibrosis [RCV001299583] Chr7:117242783..117267869 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2755T>A (p.Tyr919Asn) single nucleotide variant CFTR-related disorder [RCV001830421]|Cystic fibrosis [RCV001340326] Chr7:117603629 [GRCh38]
Chr7:117243683 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2800G>A (p.Gly934Ser) single nucleotide variant CFTR-related disorder [RCV001831090]|Cystic fibrosis [RCV001342757] Chr7:117603674 [GRCh38]
Chr7:117243728 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.744-9G>T single nucleotide variant not provided [RCV001310596] Chr7:117536539 [GRCh38]
Chr7:117176593 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.822A>G (p.Ala274=) single nucleotide variant Cystic fibrosis [RCV001433812] Chr7:117536626 [GRCh38]
Chr7:117176680 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4244T>G (p.Val1415Gly) single nucleotide variant CFTR-related disorder [RCV001830995]|Cystic fibrosis [RCV001324856] Chr7:117666909 [GRCh38]
Chr7:117306963 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.878T>C (p.Leu293Pro) single nucleotide variant CFTR-related disorder [RCV001374638] Chr7:117540108 [GRCh38]
Chr7:117180162 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1115A>G (p.Gln372Arg) single nucleotide variant CFTR-related disorder [RCV001835366]|Cystic fibrosis [RCV003507371]|not provided [RCV001810568]|not specified [RCV004770001] Chr7:117540345 [GRCh38]
Chr7:117180399 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.242T>A (p.Phe81Tyr) single nucleotide variant CFTR-related disorder [RCV001830401]|Cystic fibrosis [RCV001338348] Chr7:117509111 [GRCh38]
Chr7:117149165 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1041C>G (p.Arg347=) single nucleotide variant Cystic fibrosis [RCV001396951] Chr7:117540271 [GRCh38]
Chr7:117180325 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1767-9A>G single nucleotide variant Cystic fibrosis [RCV001446976]|not provided [RCV001810682] Chr7:117591925 [GRCh38]
Chr7:117231979 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2455G>T (p.Glu819Ter) single nucleotide variant CFTR-related disorder [RCV001830072]|Cystic fibrosis [RCV001269212] Chr7:117592622 [GRCh38]
Chr7:117232676 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.2611dup (p.Leu871fs) duplication not provided [RCV001269810] Chr7:117595049..117595050 [GRCh38]
Chr7:117235103..117235104 [GRCh37]
Chr7:7q31.2
pathogenic
NC_000007.13:g.(?_117304664)_(117306195_?)del deletion Cystic fibrosis [RCV001382495] Chr7:117304664..117306195 [GRCh37]
Chr7:7q31.2
pathogenic
NC_000007.13:g.(?_117174320)_(117176752_?)del deletion Cystic fibrosis [RCV001382496] Chr7:117174320..117176752 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.3:c.2909_2924dupGTGGGATTCTTAATAG duplication Cystic fibrosis [RCV001275772]   likely pathogenic
NM_000492.4(CFTR):c.2757C>T (p.Tyr919=) single nucleotide variant Cystic fibrosis [RCV001414759] Chr7:117603631 [GRCh38]
Chr7:117243685 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4136+6T>G single nucleotide variant not provided [RCV001283971] Chr7:117664866 [GRCh38]
Chr7:117304920 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2194T>G (p.Leu732Val) single nucleotide variant not specified [RCV001420873] Chr7:117592361 [GRCh38]
Chr7:117232415 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2323C>T (p.His775Tyr) single nucleotide variant Cystic fibrosis [RCV001278581]|not specified [RCV004699260] Chr7:117592490 [GRCh38]
Chr7:117232544 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3711C>A (p.Gly1237=) single nucleotide variant Cystic fibrosis [RCV001278584] Chr7:117627764 [GRCh38]
Chr7:117267818 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.45T>G (p.Leu15=) single nucleotide variant Cystic fibrosis [RCV001392353] Chr7:117480139 [GRCh38]
Chr7:117120193 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3033A>G (p.Leu1011=) single nucleotide variant Cystic fibrosis [RCV001413451]|Hereditary pancreatitis [RCV002256766] Chr7:117610563 [GRCh38]
Chr7:117250617 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4340del (p.Val1447fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV003469682]|Cystic fibrosis [RCV001382735] Chr7:117667005 [GRCh38]
Chr7:117307059 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.3288G>A (p.Leu1096=) single nucleotide variant Cystic fibrosis [RCV001433123] Chr7:117611729 [GRCh38]
Chr7:117251783 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1685T>C (p.Val562Ala) single nucleotide variant CFTR-related disorder [RCV001836372]|Cystic fibrosis [RCV001369430] Chr7:117590358 [GRCh38]
Chr7:117230412 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.801A>G (p.Glu267=) single nucleotide variant Cystic fibrosis [RCV001433272] Chr7:117536605 [GRCh38]
Chr7:117176659 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2007C>T (p.Phe669=) single nucleotide variant Cystic fibrosis [RCV001397454] Chr7:117592174 [GRCh38]
Chr7:117232228 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4357C>G (p.Arg1453Gly) single nucleotide variant CFTR-related disorder [RCV001836345]|Cystic fibrosis [RCV001348321] Chr7:117667022 [GRCh38]
Chr7:117307076 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1502C>T (p.Thr501Ile) single nucleotide variant CFTR-related disorder [RCV001831198]|Cystic fibrosis [RCV001360246] Chr7:117559573 [GRCh38]
Chr7:117199627 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance
NM_000492.4(CFTR):c.851T>C (p.Met284Thr) single nucleotide variant Cystic fibrosis [RCV001360294] Chr7:117536655 [GRCh38]
Chr7:117176709 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.27C>T (p.Ala9=) single nucleotide variant Cystic fibrosis [RCV001392419] Chr7:117480121 [GRCh38]
Chr7:117120175 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1766+11del deletion Cystic fibrosis [RCV001392734] Chr7:117590448 [GRCh38]
Chr7:117230502 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.744-7_744-4del deletion not provided [RCV001310597] Chr7:117536540..117536543 [GRCh38]
Chr7:117176594..117176597 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.508C>A (p.Arg170Ser) single nucleotide variant CFTR-related disorder [RCV001826016]|Cystic fibrosis [RCV001362100]|not specified [RCV004690096] Chr7:117534294 [GRCh38]
Chr7:117174348 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1909C>A (p.Gln637Lys) single nucleotide variant Cystic fibrosis [RCV001362131] Chr7:117592076 [GRCh38]
Chr7:117232130 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3555C>T (p.Gly1185=) single nucleotide variant Cystic fibrosis [RCV001396901] Chr7:117627608 [GRCh38]
Chr7:117267662 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.941G>C (p.Gly314Ala) single nucleotide variant CFTR-related disorder [RCV001831246]|Cystic fibrosis [RCV001364013] Chr7:117540171 [GRCh38]
Chr7:117180225 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.489+5T>C single nucleotide variant CFTR-related disorder [RCV001825969]|Cystic fibrosis [RCV001350838] Chr7:117531119 [GRCh38]
Chr7:117171173 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1077A>G (p.Gln359=) single nucleotide variant Cystic fibrosis [RCV001344737] Chr7:117540307 [GRCh38]
Chr7:117180361 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000007.13:g.(?_116339139)_(117307162_?)del deletion Renal cell carcinoma [RCV001343585] Chr7:116339139..117307162 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1766+33C>A single nucleotide variant not provided [RCV001813064] Chr7:117590472 [GRCh38]
Chr7:117230526 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4188A>G (p.Thr1396=) single nucleotide variant CFTR-related disorder [RCV001830090]|Cystic fibrosis [RCV002327619]|not provided [RCV001813169] Chr7:117665510 [GRCh38]
Chr7:117305564 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.3508C>T (p.Pro1170Ser) single nucleotide variant CFTR-related disorder [RCV001830170]|Cystic fibrosis [RCV001300237]|not provided [RCV005225362] Chr7:117627561 [GRCh38]
Chr7:117267615 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2491-1136_2619+2230del deletion Megacolon [RCV001290057] Chr7:117593794..117597288 [GRCh38]
Chr7:117233848..117237342 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.13:g.(?_117118376)_(117307162_?)dup duplication Cystic fibrosis [RCV001370434] Chr7:117118376..117307162 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2950G>A (p.Asp984Asn) single nucleotide variant CFTR-related disorder [RCV001835495]|Cystic fibrosis [RCV001306874]|not specified [RCV004690070] Chr7:117606715 [GRCh38]
Chr7:117246769 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1210-12_1210-11insGTG insertion CFTR-related disorder [RCV004545209]|Cystic fibrosis [RCV001347071]|not provided [RCV003478793] Chr7:117548629..117548630 [GRCh38]
Chr7:117188683..117188684 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.2490+7A>G single nucleotide variant Cystic fibrosis [RCV001278582] Chr7:117592664 [GRCh38]
Chr7:117232718 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.89dup (p.Arg31fs) duplication Cystic fibrosis [RCV001353372] Chr7:117504287..117504288 [GRCh38]
Chr7:117144341..117144342 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3767C>G (p.Ala1256Gly) single nucleotide variant Cystic fibrosis [RCV001347155] Chr7:117642487 [GRCh38]
Chr7:117282541 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1282C>G (p.Leu428Val) single nucleotide variant Cystic fibrosis [RCV002284517] Chr7:117548713 [GRCh38]
Chr7:117188767 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1550A>C (p.Tyr517Ser) single nucleotide variant Cystic fibrosis [RCV002284520] Chr7:117559621 [GRCh38]
Chr7:117199675 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1735G>C (p.Asp579His) single nucleotide variant Cystic fibrosis [RCV002284524] Chr7:117590408 [GRCh38]
Chr7:117230462 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3140-16T>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV004572120]|Cystic fibrosis [RCV002284531] Chr7:117611565 [GRCh38]
Chr7:117251619 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3293G>T (p.Trp1098Leu) single nucleotide variant Cystic fibrosis [RCV002284533] Chr7:117611734 [GRCh38]
Chr7:117251788 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.3411_3414del (p.Met1137fs) deletion Cystic fibrosis [RCV002284543] Chr7:117614654..117614657 [GRCh38]
Chr7:117254708..117254711 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3469-1G>T single nucleotide variant Cystic fibrosis [RCV002284545] Chr7:117627521 [GRCh38]
Chr7:117267575 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.4111_4113dup (p.Glu1371_Pro1372insGlu) duplication Cystic fibrosis [RCV002284546] Chr7:117664834..117664835 [GRCh38]
Chr7:117304888..117304889 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3809A>T (p.Asp1270Val) single nucleotide variant Cystic fibrosis [RCV002284550] Chr7:117642529 [GRCh38]
Chr7:117282583 [GRCh37]
Chr7:7q31.2
likely pathogenic|uncertain significance
NM_000492.4(CFTR):c.3964-7A>G single nucleotide variant Cystic fibrosis [RCV002284552] Chr7:117664681 [GRCh38]
Chr7:117304735 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.97G>T (p.Glu33Ter) single nucleotide variant Cystic fibrosis [RCV002284553] Chr7:117504296 [GRCh38]
Chr7:117144350 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4:c.(2908+1_2909-1)_(4242+1_4243-1)del deletion Cystic fibrosis [RCV002284554]   pathogenic
NM_000492.4:c.(53+1_54-1)_(164+1_165-1)delins186 indel Cystic fibrosis [RCV002284556]   likely pathogenic
NM_000492.4:c.(3468+1_3469-1)_(3963+1_3964-1)del deletion Cystic fibrosis [RCV002284562]   pathogenic
NM_000492.4:c.(3139+1_3140-1)_(3367+1_3368-1)del deletion Cystic fibrosis [RCV002284565]   pathogenic
NM_000492.4:c.(3873+1_3874-1)_(3963+1_3964-1)del deletion Cystic fibrosis [RCV002284566]   pathogenic
NM_000492.4(CFTR):c.4137-23G>A single nucleotide variant Cystic fibrosis [RCV002284568] Chr7:117665436 [GRCh38]
Chr7:117305490 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4:c.(743+1_744-1)_(1584+1_1585-1)dup duplication Cystic fibrosis [RCV002284569]   pathogenic
NM_000492.4(CFTR):c.440A>C (p.His147Pro) single nucleotide variant Cystic fibrosis [RCV002284572] Chr7:117531065 [GRCh38]
Chr7:117171119 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4:c.(1766+1_1767-1)_(2619+1_2620-1)del deletion Cystic fibrosis [RCV002284574]   pathogenic
NM_000492.4(CFTR):c.498del (p.Lys166fs) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV004572121]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005032219]|Cystic fibrosis [RCV002284579] Chr7:117534284 [GRCh38]
Chr7:117174338 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.535C>T (p.Gln179Ter) single nucleotide variant Cystic fibrosis [RCV002284581] Chr7:117534321 [GRCh38]
Chr7:117174375 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.777del (p.Leu259_Val260insTer) deletion Bronchiectasis with or without elevated sweat chloride 1 [RCV004572122]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005032220]|Cystic fibrosis [RCV002284585] Chr7:117536580 [GRCh38]
Chr7:117176634 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.4443G>C (p.Ter1481Tyr) single nucleotide variant Cystic fibrosis [RCV002284586] Chr7:117667108 [GRCh38]
Chr7:117307162 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.972del (p.Tyr325fs) deletion Cystic fibrosis [RCV002284589] Chr7:117540200 [GRCh38]
Chr7:117180254 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4:c.(2908+1_2909-1)_(3139+1_3140-1)dup duplication Cystic fibrosis [RCV002284590]   uncertain significance
NM_000492.4(CFTR):c.1688A>G (p.Tyr563Cys) single nucleotide variant Cystic fibrosis [RCV002284593] Chr7:117590361 [GRCh38]
Chr7:117230415 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.1762G>T (p.Glu588Ter) single nucleotide variant Cystic fibrosis [RCV002284594] Chr7:117590435 [GRCh38]
Chr7:117230489 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2335del (p.Gln779fs) deletion Cystic fibrosis [RCV002284595] Chr7:117592501 [GRCh38]
Chr7:117232555 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4:c.(1392+1_1393-1)_(1584+1_1585-1)del deletion Cystic fibrosis [RCV002284596]   likely pathogenic
NM_000492.4(CFTR):c.1221del (p.Glu407fs) deletion Cystic fibrosis [RCV002284602] Chr7:117548651 [GRCh38]
Chr7:117188705 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3691T>C (p.Ser1231Pro) single nucleotide variant Cystic fibrosis [RCV001307789] Chr7:117627744 [GRCh38]
Chr7:117267798 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.-439G>A single nucleotide variant Cystic fibrosis [RCV001278575] Chr7:117479656 [GRCh38]
Chr7:117119710 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1796C>G (p.Thr599Ser) single nucleotide variant CFTR-related disorder [RCV001825926]|Cystic fibrosis [RCV001346243] Chr7:117591963 [GRCh38]
Chr7:117232017 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1178T>G (p.Val393Gly) single nucleotide variant Cystic fibrosis [RCV001347502] Chr7:117542077 [GRCh38]
Chr7:117182131 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.14:g.117660798_117670251delinsTAACT indel Cystic fibrosis [RCV002284244] Chr7:117660798..117670251 [GRCh38]
Chr7:117300852..117310305 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3498C>G (p.Phe1166Leu) single nucleotide variant Cystic fibrosis [RCV001339075] Chr7:117627551 [GRCh38]
Chr7:117267605 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.13:g.(?_117306111)_117307116del deletion Cystic fibrosis [RCV001313390]   uncertain significance
NM_000492.4(CFTR):c.274-3397_489+710del deletion Cystic fibrosis [RCV002284251] Chr7:117527497..117531819 [GRCh38]
Chr7:117167551..117171873 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3500T>A (p.Ile1167Asn) single nucleotide variant CFTR-related disorder [RCV001831242]|Cystic fibrosis [RCV001363547] Chr7:117627553 [GRCh38]
Chr7:117267607 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1585-2A>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003473863]|CFTR-related disorder [RCV001831037]|Cystic fibrosis [RCV001328347] Chr7:117587737 [GRCh38]
Chr7:117227791 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
GRCh37/hg19 7q31.2-31.33(chr7:116297277-126370694) copy number loss Global developmental delay [RCV001352642] Chr7:116297277..126370694 [GRCh37]
Chr7:7q31.2-31.33
pathogenic
NM_000492.4(CFTR):c.4028G>A (p.Gly1343Asp) single nucleotide variant CFTR-related disorder [RCV001830312]|Cystic fibrosis [RCV001318253] Chr7:117664752 [GRCh38]
Chr7:117304806 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3590A>G (p.His1197Arg) single nucleotide variant CFTR-related disorder [RCV001830422]|Cystic fibrosis [RCV001340329] Chr7:117627643 [GRCh38]
Chr7:117267697 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3064G>A (p.Val1022Met) single nucleotide variant CFTR-related disorder [RCV001835519]|Cystic fibrosis [RCV001309350] Chr7:117610594 [GRCh38]
Chr7:117250648 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.327T>G (p.Tyr109Ter) single nucleotide variant Cystic fibrosis [RCV001376130] Chr7:117530952 [GRCh38]
Chr7:117171006 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.54-6168A>G single nucleotide variant Cystic fibrosis [RCV001376134] Chr7:117498085 [GRCh38]
Chr7:117138139 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.3:c.1210-12T[(5_9)] microsatellite Cystic fibrosis [RCV001420507]   not provided
NM_000492.4(CFTR):c.357C>T (p.Ile119=) single nucleotide variant CFTR-related disorder [RCV004531057]|Cystic fibrosis [RCV001449156]|not provided [RCV001813096]|not specified [RCV003155387] Chr7:117530982 [GRCh38]
Chr7:117171036 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.495A>C (p.Leu165Phe) single nucleotide variant not specified [RCV001420891] Chr7:117534281 [GRCh38]
Chr7:117174335 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3139+19G>A single nucleotide variant Cystic fibrosis [RCV003771341]|not specified [RCV001420915] Chr7:117610688 [GRCh38]
Chr7:117250742 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.1384G>A (p.Ala462Thr) single nucleotide variant CFTR-related disorder [RCV001830142]|Cystic fibrosis [RCV001297012] Chr7:117548815 [GRCh38]
Chr7:117188869 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1051A>G (p.Thr351Ala) single nucleotide variant CFTR-related disorder [RCV001830230]|Cystic fibrosis [RCV001306621] Chr7:117540281 [GRCh38]
Chr7:117180335 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3681A>G (p.Leu1227=) single nucleotide variant CFTR-related disorder [RCV001826189]|Cystic fibrosis [RCV001394866] Chr7:117627734 [GRCh38]
Chr7:117267788 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.3:c.1211delG deletion Cystic fibrosis [RCV001273248]   pathogenic
NM_000492.4(CFTR):c.1318G>C (p.Val440Leu) single nucleotide variant Cystic fibrosis [RCV001278579] Chr7:117548749 [GRCh38]
Chr7:117188803 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.67A>G (p.Ile23Val) single nucleotide variant Cystic fibrosis [RCV001278576] Chr7:117504266 [GRCh38]
Chr7:117144320 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1117-4A>G single nucleotide variant Cystic fibrosis [RCV001278577] Chr7:117542012 [GRCh38]
Chr7:117182066 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1393-10T>C single nucleotide variant Cystic fibrosis [RCV001278580] Chr7:117559454 [GRCh38]
Chr7:117199508 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2713G>C (p.Val905Leu) single nucleotide variant CFTR-related disorder [RCV001830112]|Cystic fibrosis [RCV003166628]|not provided [RCV003481054]|not specified [RCV001290578] Chr7:117603587 [GRCh38]
Chr7:117243641 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3718-2476G>T single nucleotide variant Cystic fibrosis [RCV001394959] Chr7:117639962 [GRCh38]
Chr7:117280016 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3239A>G (p.Lys1080Arg) single nucleotide variant CFTR-related disorder [RCV001825990]|Cystic fibrosis [RCV001359100] Chr7:117611680 [GRCh38]
Chr7:117251734 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.274-8558G>A single nucleotide variant Cystic fibrosis [RCV001376133] Chr7:117522341 [GRCh38]
Chr7:117162395 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1680-893T>C single nucleotide variant not specified [RCV001328358] Chr7:117589460 [GRCh38]
Chr7:117229514 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1668T>C (p.Ile556=) single nucleotide variant Cystic fibrosis [RCV001494760] Chr7:117587822 [GRCh38]
Chr7:117227876 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3988C>G (p.Gln1330Glu) single nucleotide variant Cystic fibrosis [RCV002377885]|not provided [RCV001507717] Chr7:117664712 [GRCh38]
Chr7:117304766 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1711T>C (p.Leu571=) single nucleotide variant Cystic fibrosis [RCV001395900] Chr7:117590384 [GRCh38]
Chr7:117230438 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.164+10T>C single nucleotide variant Cystic fibrosis [RCV001421747] Chr7:117504373 [GRCh38]
Chr7:117144427 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.651G>A (p.Glu217=) single nucleotide variant Cystic fibrosis [RCV001467927] Chr7:117535319 [GRCh38]
Chr7:117175373 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1845A>G (p.Lys615=) single nucleotide variant CFTR-related disorder [RCV002449329]|Cystic fibrosis [RCV001501561] Chr7:117592012 [GRCh38]
Chr7:117232066 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4336A>C (p.Arg1446=) single nucleotide variant Cystic fibrosis [RCV001492244] Chr7:117667001 [GRCh38]
Chr7:117307055 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4431T>C (p.Asp1477=) single nucleotide variant Cystic fibrosis [RCV001479178] Chr7:117667096 [GRCh38]
Chr7:117307150 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3741A>T (p.Gly1247=) single nucleotide variant Cystic fibrosis [RCV001441055] Chr7:117642461 [GRCh38]
Chr7:117282515 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1732C>T (p.Leu578=) single nucleotide variant Cystic fibrosis [RCV001484069] Chr7:117590405 [GRCh38]
Chr7:117230459 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3367+10A>T single nucleotide variant Cystic fibrosis [RCV001495815] Chr7:117611818 [GRCh38]
Chr7:117251872 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.321T>A (p.Ala107=) single nucleotide variant Cystic fibrosis [RCV001450630] Chr7:117530946 [GRCh38]
Chr7:117171000 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.765C>T (p.Ile255=) single nucleotide variant Cystic fibrosis [RCV001427964] Chr7:117536569 [GRCh38]
Chr7:117176623 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3468+51C>A single nucleotide variant Cystic fibrosis [RCV001478506] Chr7:117614764 [GRCh38]
Chr7:117254818 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1393-4C>A single nucleotide variant Cystic fibrosis [RCV001424807] Chr7:117559460 [GRCh38]
Chr7:117199514 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.54-4T>G single nucleotide variant Cystic fibrosis [RCV001462185] Chr7:117504249 [GRCh38]
Chr7:117144303 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.600C>T (p.Phe200=) single nucleotide variant CFTR-related disorder [RCV004533910]|Cystic fibrosis [RCV001504566] Chr7:117535268 [GRCh38]
Chr7:117175322 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1161A>G (p.Leu387=) single nucleotide variant Cystic fibrosis [RCV001487778] Chr7:117542060 [GRCh38]
Chr7:117182114 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2658-6T>C single nucleotide variant Cystic fibrosis [RCV001473542] Chr7:117603526 [GRCh38]
Chr7:117243580 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1017C>T (p.Thr339=) single nucleotide variant Cystic fibrosis [RCV001473574] Chr7:117540247 [GRCh38]
Chr7:117180301 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2909-7A>T single nucleotide variant Cystic fibrosis [RCV001482979] Chr7:117606667 [GRCh38]
Chr7:117246721 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2127A>G (p.Arg709=) single nucleotide variant Cystic fibrosis [RCV001417432] Chr7:117592294 [GRCh38]
Chr7:117232348 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1679+34G>T single nucleotide variant Cystic fibrosis [RCV001465719] Chr7:117587867 [GRCh38]
Chr7:117227921 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4136+52del deletion not specified [RCV001526918] Chr7:117664912 [GRCh38]
Chr7:117304966 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1269T>C (p.Asn423=) single nucleotide variant Cystic fibrosis [RCV001488345] Chr7:117548700 [GRCh38]
Chr7:117188754 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4077T>C (p.Ser1359=) single nucleotide variant Cystic fibrosis [RCV001492615] Chr7:117664801 [GRCh38]
Chr7:117304855 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2632T>C (p.Leu878=) single nucleotide variant Cystic fibrosis [RCV001480154] Chr7:117602838 [GRCh38]
Chr7:117242892 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3726C>G (p.Leu1242=) single nucleotide variant Cystic fibrosis [RCV001496721] Chr7:117642446 [GRCh38]
Chr7:117282500 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1767-7C>T single nucleotide variant Cystic fibrosis [RCV001402999] Chr7:117591927 [GRCh38]
Chr7:117231981 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.537A>G (p.Gln179=) single nucleotide variant CFTR-related disorder [RCV004533849]|Cystic fibrosis [RCV001482716] Chr7:117534323 [GRCh38]
Chr7:117174377 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1536T>C (p.Tyr512=) single nucleotide variant Cystic fibrosis [RCV001486651] Chr7:117559607 [GRCh38]
Chr7:117199661 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2560dup (p.Thr854fs) duplication Cystic fibrosis [RCV001381092] Chr7:117594998..117594999 [GRCh38]
Chr7:117235052..117235053 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.2994A>G (p.Leu998=) single nucleotide variant Cystic fibrosis [RCV001442275] Chr7:117610524 [GRCh38]
Chr7:117250578 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.789A>T (p.Ser263=) single nucleotide variant Cystic fibrosis [RCV001482941] Chr7:117536593 [GRCh38]
Chr7:117176647 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2106C>T (p.Leu702=) single nucleotide variant Cystic fibrosis [RCV001471763] Chr7:117592273 [GRCh38]
Chr7:117232327 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.-234T>A single nucleotide variant CFTR-related disorder [RCV004533806]|Cystic fibrosis [RCV001466617]|not specified [RCV004587163] Chr7:117479861 [GRCh38]
Chr7:117119915 [GRCh37]
Chr7:7q31.2
likely benign|uncertain significance
NM_000492.4(CFTR):c.1210-307GT[14] microsatellite Cystic fibrosis [RCV001507022] Chr7:117548334..117548337 [GRCh38]
Chr7:117188388..117188391 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2491-8T>C single nucleotide variant Cystic fibrosis [RCV001442388] Chr7:117594922 [GRCh38]
Chr7:117234976 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.384C>T (p.Cys128=) single nucleotide variant Cystic fibrosis [RCV001504278] Chr7:117531009 [GRCh38]
Chr7:117171063 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1923_1930del (p.Ser642fs) deletion Cystic fibrosis [RCV001381362] Chr7:117592090..117592097 [GRCh38]
Chr7:117232144..117232151 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.300_301del (p.Leu101fs) microsatellite Cystic fibrosis [RCV001381447] Chr7:117530921..117530922 [GRCh38]
Chr7:117170975..117170976 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.54-11_54-8del deletion Cystic fibrosis [RCV001406096] Chr7:117504241..117504244 [GRCh38]
Chr7:117144295..117144298 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4269G>A (p.Gln1423=) single nucleotide variant Cystic fibrosis [RCV001489369] Chr7:117666934 [GRCh38]
Chr7:117306988 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3210G>A (p.Arg1070=) single nucleotide variant Cystic fibrosis [RCV001466920] Chr7:117611651 [GRCh38]
Chr7:117251705 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4206C>T (p.His1402=) single nucleotide variant Cystic fibrosis [RCV001467070] Chr7:117665528 [GRCh38]
Chr7:117305582 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3874-4A>C single nucleotide variant Cystic fibrosis [RCV001434603] Chr7:117652838 [GRCh38]
Chr7:117292892 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.432C>T (p.Gly144=) single nucleotide variant Cystic fibrosis [RCV001474676] Chr7:117531057 [GRCh38]
Chr7:117171111 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.869+7T>C single nucleotide variant Cystic fibrosis [RCV001401213] Chr7:117536680 [GRCh38]
Chr7:117176734 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.16C>T (p.Leu6=) single nucleotide variant Cystic fibrosis [RCV001491971] Chr7:117480110 [GRCh38]
Chr7:117120164 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.258C>A (p.Ile86=) single nucleotide variant Cystic fibrosis [RCV001484638] Chr7:117509127 [GRCh38]
Chr7:117149181 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.53+9G>T single nucleotide variant Cystic fibrosis [RCV001434935] Chr7:117480156 [GRCh38]
Chr7:117120210 [GRCh37]
Chr7:7q31.2
likely benign|conflicting interpretations of pathogenicity
NM_000492.4(CFTR):c.657A>G (p.Leu219=) single nucleotide variant Cystic fibrosis [RCV001501259] Chr7:117535325 [GRCh38]
Chr7:117175379 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4353C>T (p.Pro1451=) single nucleotide variant Cystic fibrosis [RCV001471132] Chr7:117667018 [GRCh38]
Chr7:117307072 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2181T>C (p.Asp727=) single nucleotide variant Cystic fibrosis [RCV001398614] Chr7:117592348 [GRCh38]
Chr7:117232402 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1117-8A>G single nucleotide variant Cystic fibrosis [RCV001419404] Chr7:117542008 [GRCh38]
Chr7:117182062 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.633C>T (p.Leu211=) single nucleotide variant Cystic fibrosis [RCV001490065] Chr7:117535301 [GRCh38]
Chr7:117175355 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1170A>C (p.Thr390=) single nucleotide variant Cystic fibrosis [RCV001393878] Chr7:117542069 [GRCh38]
Chr7:117182123 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3960T>C (p.Asp1320=) single nucleotide variant CFTR-related disorder [RCV004533745]|Cystic fibrosis [RCV001443252] Chr7:117652928 [GRCh38]
Chr7:117292982 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.744-15T>C single nucleotide variant Cystic fibrosis [RCV001448675] Chr7:117536533 [GRCh38]
Chr7:117176587 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1674A>G (p.Leu558=) single nucleotide variant CFTR-related disorder [RCV001832558]|Cystic fibrosis [RCV001437155] Chr7:117587828 [GRCh38]
Chr7:117227882 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3183A>G (p.Gly1061=) single nucleotide variant Cystic fibrosis [RCV001448720] Chr7:117611624 [GRCh38]
Chr7:117251678 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2979C>T (p.Asp993=) single nucleotide variant Cystic fibrosis [RCV001424736] Chr7:117606744 [GRCh38]
Chr7:117246798 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2565C>A (p.Val855=) single nucleotide variant Cystic fibrosis [RCV001437314] Chr7:117595004 [GRCh38]
Chr7:117235058 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2016A>G (p.Glu672=) single nucleotide variant Cystic fibrosis [RCV001438559] Chr7:117592183 [GRCh38]
Chr7:117232237 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2739T>C (p.Tyr913=) single nucleotide variant Cystic fibrosis [RCV001446305] Chr7:117603613 [GRCh38]
Chr7:117243667 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.63A>G (p.Arg21=) single nucleotide variant Cystic fibrosis [RCV001409651] Chr7:117504262 [GRCh38]
Chr7:117144316 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4140A>T (p.Thr1380=) single nucleotide variant Cystic fibrosis [RCV001430507] Chr7:117665462 [GRCh38]
Chr7:117305516 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2496C>T (p.Cys832=) single nucleotide variant Cystic fibrosis [RCV001446572] Chr7:117594935 [GRCh38]
Chr7:117234989 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4035C>A (p.Val1345=) single nucleotide variant Cystic fibrosis [RCV001439683] Chr7:117664759 [GRCh38]
Chr7:117304813 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.567C>T (p.Asn189=) single nucleotide variant Cystic fibrosis [RCV001432718] Chr7:117534353 [GRCh38]
Chr7:117174407 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1290C>T (p.Phe430=) single nucleotide variant Cystic fibrosis [RCV001398088] Chr7:117548721 [GRCh38]
Chr7:117188775 [GRCh37]
Chr7:7q31.2
likely benign
NC_000007.13:g.(?_117246713)_(117251872_?)del deletion Cystic fibrosis [RCV001387476] Chr7:117246713..117251872 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.1036C>T (p.Leu346=) single nucleotide variant CFTR-related disorder [RCV004531272]|Cystic fibrosis [RCV001417841] Chr7:117540266 [GRCh38]
Chr7:117180320 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2620-15C>T single nucleotide variant Cystic fibrosis [RCV001400295] Chr7:117602811 [GRCh38]
Chr7:117242865 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.588A>G (p.Ala196=) single nucleotide variant CFTR-related disorder [RCV004540327]|Cystic fibrosis [RCV001436761] Chr7:117535256 [GRCh38]
Chr7:117175310 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.979C>T (p.Leu327=) single nucleotide variant Cystic fibrosis [RCV001407738] Chr7:117540209 [GRCh38]
Chr7:117180263 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.274-179G>A single nucleotide variant Cystic fibrosis [RCV001532761]|not provided [RCV001655813] Chr7:117530720 [GRCh38]
Chr7:117170774 [GRCh37]
Chr7:7q31.2
benign|likely benign
NM_000492.4(CFTR):c.798T>A (p.Ile266=) single nucleotide variant Cystic fibrosis [RCV001441539] Chr7:117536602 [GRCh38]
Chr7:117176656 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1026C>T (p.Phe342=) single nucleotide variant Cystic fibrosis [RCV001405442] Chr7:117540256 [GRCh38]
Chr7:117180310 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3318T>A (p.Ile1106=) single nucleotide variant Cystic fibrosis [RCV001410452] Chr7:117611759 [GRCh38]
Chr7:117251813 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1132C>T (p.Gln378Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV005038252]|Cystic fibrosis [RCV001532983]|not provided [RCV002254355] Chr7:117542031 [GRCh38]
Chr7:117182085 [GRCh37]
Chr7:7q31.2
pathogenic|likely pathogenic
NM_000492.4(CFTR):c.336T>C (p.Asp112=) single nucleotide variant Cystic fibrosis [RCV001407752]|not specified [RCV003479326] Chr7:117530961 [GRCh38]
Chr7:117171015 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.705T>G (p.Leu235=) single nucleotide variant Cystic fibrosis [RCV001407835] Chr7:117535373 [GRCh38]
Chr7:117175427 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3726C>T (p.Leu1242=) single nucleotide variant Cystic fibrosis [RCV001444876] Chr7:117642446 [GRCh38]
Chr7:117282500 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3964-7A>T single nucleotide variant Cystic fibrosis [RCV001410699] Chr7:117664681 [GRCh38]
Chr7:117304735 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1573del (p.Gln525fs) deletion Cystic fibrosis [RCV001386721] Chr7:117559643 [GRCh38]
Chr7:117199697 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.3718-5_3725del deletion Cystic fibrosis [RCV001376841] Chr7:117642430..117642442 [GRCh38]
Chr7:117282484..117282496 [GRCh37]
Chr7:7q31.2
likely pathogenic
NM_000492.4(CFTR):c.2620-9C>G single nucleotide variant Cystic fibrosis [RCV001447721] Chr7:117602817 [GRCh38]
Chr7:117242871 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3964-9T>A single nucleotide variant Cystic fibrosis [RCV001411106] Chr7:117664679 [GRCh38]
Chr7:117304733 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4326C>T (p.Ser1442=) single nucleotide variant Cystic fibrosis [RCV001402588] Chr7:117666991 [GRCh38]
Chr7:117307045 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2241G>A (p.Ala747=) single nucleotide variant CFTR-related disorder [RCV001826240]|Cystic fibrosis [RCV001428258] Chr7:117592408 [GRCh38]
Chr7:117232462 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3237C>T (p.His1079=) single nucleotide variant Cystic fibrosis [RCV001442370] Chr7:117611678 [GRCh38]
Chr7:117251732 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1437G>A (p.Glu479=) single nucleotide variant Cystic fibrosis [RCV001425689]|not specified [RCV002282545] Chr7:117559508 [GRCh38]
Chr7:117199562 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1464T>C (p.Ile488=) single nucleotide variant Cystic fibrosis [RCV001417969] Chr7:117559535 [GRCh38]
Chr7:117199589 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3375A>G (p.Gly1125=) single nucleotide variant CFTR-related disorder [RCV004540339]|Cystic fibrosis [RCV001442594] Chr7:117614620 [GRCh38]
Chr7:117254674 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.489+7C>T single nucleotide variant CFTR-related disorder [RCV004533744]|Cystic fibrosis [RCV001442602] Chr7:117531121 [GRCh38]
Chr7:117171175 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2697A>G (p.Arg899=) single nucleotide variant Cystic fibrosis [RCV001393742] Chr7:117603571 [GRCh38]
Chr7:117243625 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.696C>A (p.Val232=) single nucleotide variant Cystic fibrosis [RCV001427406] Chr7:117535364 [GRCh38]
Chr7:117175418 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3324C>A (p.Val1108=) single nucleotide variant Cystic fibrosis [RCV001400439] Chr7:117611765 [GRCh38]
Chr7:117251819 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.357C>A (p.Ile119=) single nucleotide variant Cystic fibrosis [RCV001419633] Chr7:117530982 [GRCh38]
Chr7:117171036 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4242+8T>C single nucleotide variant Cystic fibrosis [RCV001432246] Chr7:117665572 [GRCh38]
Chr7:117305626 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.870-9T>C single nucleotide variant Cystic fibrosis [RCV001427516] Chr7:117540091 [GRCh38]
Chr7:117180145 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4078_4079del (p.Val1360fs) deletion Cystic fibrosis [RCV004526380] Chr7:117664801..117664802 [GRCh38]
Chr7:117304855..117304856 [GRCh37]
Chr7:7q31.2
pathogenic
NM_000492.4(CFTR):c.906G>C (p.Val302=) single nucleotide variant Cystic fibrosis [RCV001404420] Chr7:117540136 [GRCh38]
Chr7:117180190 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.927C>A (p.Ala309=) single nucleotide variant Cystic fibrosis [RCV001485619] Chr7:117540157 [GRCh38]
Chr7:117180211 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2619+106T>A single nucleotide variant not provided [RCV001717116] Chr7:117595164 [GRCh38]
Chr7:117235218 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.3711C>T (p.Gly1237=) single nucleotide variant not provided [RCV001507713] Chr7:117627764 [GRCh38]
Chr7:117267818 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3874-540A>G single nucleotide variant Cystic fibrosis [RCV001543684] Chr7:117652302 [GRCh38]
Chr7:117292356 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.876A>G (p.Glu292=) single nucleotide variant Cystic fibrosis [RCV001494310] Chr7:117540106 [GRCh38]
Chr7:117180160 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1929A>G (p.Lys643=) single nucleotide variant Cystic fibrosis [RCV001495446] Chr7:117592096 [GRCh38]
Chr7:117232150 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.54-5870G>A single nucleotide variant not provided [RCV001508583] Chr7:117498383 [GRCh38]
Chr7:117138437 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.164+5G>C single nucleotide variant Cystic fibrosis [RCV002405208]|not provided [RCV001508584] Chr7:117504368 [GRCh38]
Chr7:117144422 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1210-6dup duplication CFTR-related disorder [RCV004533932]|Cystic fibrosis [RCV001514893] Chr7:117548628..117548629 [GRCh38]
Chr7:117188682..117188683 [GRCh37]
Chr7:7q31.2
benign|likely benign
NM_000492.4(CFTR):c.1210-12_1210-11insGTGTT microsatellite Cystic fibrosis [RCV001514894] Chr7:117548628..117548629 [GRCh38]
Chr7:117188682..117188683 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.2573G>A (p.Ser858Asn) single nucleotide variant Cystic fibrosis [RCV002568008]|not provided [RCV001509319] Chr7:117595012 [GRCh38]
Chr7:117235066 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.1767-4A>G single nucleotide variant Cystic fibrosis [RCV001465118] Chr7:117591930 [GRCh38]
Chr7:117231984 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2391C>T (p.Ala797=) single nucleotide variant Cystic fibrosis [RCV001465276] Chr7:117592558 [GRCh38]
Chr7:117232612 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2773A>G (p.Thr925Ala) single nucleotide variant Cystic fibrosis [RCV002439208]|not provided [RCV001509324] Chr7:117603647 [GRCh38]
Chr7:117243701 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.165-7T>G single nucleotide variant Cystic fibrosis [RCV001490713] Chr7:117509027 [GRCh38]
Chr7:117149081 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2838A>G (p.Lys946=) single nucleotide variant Cystic fibrosis [RCV001495589] Chr7:117603712 [GRCh38]
Chr7:117243766 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.2614G>A (p.Ala872Thr) single nucleotide variant Cystic fibrosis [RCV003365422]|not provided [RCV001509320] Chr7:117595053 [GRCh38]
Chr7:117235107 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3606C>T (p.Asp1202=) single nucleotide variant Cystic fibrosis [RCV001451112] Chr7:117627659 [GRCh38]
Chr7:117267713 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3375A>C (p.Gly1125=) single nucleotide variant Cystic fibrosis [RCV001465140] Chr7:117614620 [GRCh38]
Chr7:117254674 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.4107T>C (p.Leu1369=) single nucleotide variant Cystic fibrosis [RCV001451607] Chr7:117664831 [GRCh38]
Chr7:117304885 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.867A>G (p.Arg289=) single nucleotide variant Cystic fibrosis [RCV001499657] Chr7:117536671 [GRCh38]
Chr7:117176725 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.1470C>T (p.Phe490=) single nucleotide variant Cystic fibrosis [RCV001506748] Chr7:117559541 [GRCh38]
Chr7:117199595 [GRCh37]
Chr7:7q31.2
likely benign
NM_000492.4(CFTR):c.3718-3598C>T single nucleotide variant Cystic fibrosis [RCV001507011] Chr7:117638840 [GRCh38]
Chr7:117278894 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.2620-583C>T single nucleotide variant Cystic fibrosis [RCV001507012] Chr7:117602243 [GRCh38]
Chr7:117242297 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.3718-3630G>T single nucleotide variant Cystic fibrosis [RCV001507013] Chr7:117638808 [GRCh38]
Chr7:117278862 [GRCh37]
Chr7:7q31.2
uncertain significance
NM_000492.4(CFTR):c.53+324A>G single nucleotide variant Cystic fibrosis [RCV001507018] Chr7:117480471 [GRCh38]
Chr7:117120525 [GRCh37]
Chr7:7q31.2
uncertain significance
NC_000007.14:g.117479234del deletion Cystic fibrosis [RCV001510586] Chr7:117479226 [GRCh38]
Chr7:117119280 [GRCh37]
Chr7:7q31.2
benign
NM_000492.4(CFTR):c.1210-13_1210-11del deletion CFTR-related disorder [RCV004540495]|Cystic fibrosis [RCV001516150] Chr7:117548627..117548629 [GRCh38]
Chr7:117188681..117188683 [GRCh37]
Chr7:7q31.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000492.4(CFTR):c.1210-15_1210-10del deletion Cystic fibrosis [RCV001516151] Chr7:117548625..117548630 [GRCh38]
Chr7:117188679..117188684 [GRCh37]
Chr7:7q31.2
benign|conflicting interpret