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 |