CFTR- France & CFTR-NGS catalog have retrieved 217 DELETIONS, which are displayed below:



CFTR-France & CFTR-NGS Variants listing:
#Exon/intron Name (HGVS) Legacy name Class in CFTR-France Report in CFTR-NGS Report in CFTR-France MAF (GnomAD) Splicing prediction (SpliceAI)
UTR 5 c.3468+6401_3468+6404del5 not reported - -
Intron 1 c.54-1412delA not reportedSuspicion of CF:1
- AG: 0.00 (46)
AL: 0.00 (-37)
DG: 0.00 (12)
DL: 0.00 (44)
Intron 1 c.54-3942delA not reported - -
Intron 1 c.54-3948delA not reported - -
Intron 1 c.54-3949delG not reported - -
Intron 1 c.54-9813delC not reportedAsymptomatic:23
CF:17
CFTR-RD:20
Infertility:1
Pending (NBS):17
Suspicion of CF:24
0.563628 AG: 0.00 (-35)
AL: 0.00 (42)
DG: 0.00 (-25)
DL: 0.00 (50)
Intron 1 c.54-6848_54-6841del8 not reportedAsymptomatic:1
- -
Intron 1 c.53+2325_53+2352del28 not reportedAsymptomatic:1
- -
Intron 1 c.53+7122_53+7131del10 not reportedPending (NBS):1
- -
Intron 1 c.53+9519_53+9528del10 not reportedAsymptomatic:1
- -
Intron 1 c.54-3942_54-3941delAG not reportedCFTR-RD:1
- AG: 0.00 (-2)
AL: 0.00 (23)
DG: 0.00 (-2)
DL: 0.00 (23)
Intron 1 c.54-3950_54-3949delTG not reported - -
Intron 1 c.54-7459_54-7449del11 not reportedAsymptomatic:1
- -
Exon 2 c.100_117del 232del18 disease-causing - -
Exon 3 c.168del 300delA disease-causingCF:4
Pending:1
- -
Exon 3 c.233del 360delT disease-causingCF:1
CFTR-RD:1
- -
Exon 3 c.174_177del 306delTAGA disease-causingCF:1
- -
Exon 3 c.262_263del 394delTT disease-causingCF:26
CFTR-RD:7
Fetal bowel anomalies:1
Pending:2
- -
Intron 3 c.273+3513delG not reported - -
Intron 3 c.274-7743delA not reportedCFTR-RD:1
0.020553 AG: 0.00 (-25)
AL: 0.00 (39)
DG: 0.00 (19)
DL: 0.00 (1)
Intron 3 c.274-9503delC not reportedAsymptomatic:1
- AG: 0.00 (0)
AL: 0.00 (-39)
DG: 0.00 (-45)
DL: 0.00 (-13)
Intron 3 c.273+93_273+103del11 not reportedSuspicion of CF:1
- -
Intron 3 c.274-3397_489+710del dele4 disease-causingCF:1
- -
Intron 3 c.273+7616_273+7624del9 not reportedSuspicion of CF:1
- -
Intron 3 c.274-5989_274-5981del9 not reportedPending (NBS):1
- -
Intron 3 c.273+1205_273+1215del11 not reportedCFTR-RD:1
- -
Intron 3 c.273+3513_273+3514delGA not reported - -
Intron 3 c.274-8353_274-8343del11 not reportedAsymptomatic:1
- -
Intron 3 c.273+8918_273+8920delTGT not reportedAsymptomatic:5
CF:3
CFTR-RD:6
Pending (NBS):3
Suspicion of CF:11
0.092059 AG: 0.00 (-14)
AL: 0.00 (-31)
DG: 0.00 (4)
DL: 0.00 (45)
Exon 4 c.308del disease-causingCF:1
- -
Exon 4 c.442del 574delA disease-causingCF:7
Pending:1
- -
Exon 4 c.409_412del 541del4 disease-causingCF:2
- -
Exon 4 c.410_416del disease-causingCF:1
Fetal bowel anomalies:1
- -
Intron 4 c.490-16delT not reportedCFTR-RD:1
- AG: 0.00 (28)
AL: 0.00 (21)
DG: 0.00 (45)
DL: 0.00 (28)
Exon 4 c.469_477del9 not reportedAsymptomatic:1
- -
Intron 4 c.490-23_490-4del VUSCF:1
- -
Intron 4 c.490-287_490-276del12 not reportedCFTR-RD:1
- -
Exon 5 c.543_546del 675del4 disease-causingCF:1
- -
Exon 5 c.519_526del8 not reportedCFTR-RD:1
- -
Exon 6 c.601del 733delG disease-causingFetal bowel anomalies:1
- -
Exon 6 c.671del disease-causingPending:1
- -
Exon 6 c.723_743+1del 852del22 disease-causingCF:1
- -
Intron 6 c.744-10_744-3del 876-10del8 VUSCFTR-RD:1
- -
Intron 6 c.744-14_744-3del 876-14del12 VUSCF:1
- -
Exon 7 c.773del 905delG disease-causingCF:2
- -
Exon 7 c.861_865del 991del5 disease-causingCF:3
- -
Intron 7 c.870-1345delA not reportedAsymptomatic:24
CF:18
CFTR-RD:20
Infertility:1
Pending (NBS):17
Suspicion of CF:34
0.574576 AG: 0.00 (-43)
AL: 0.00 (-49)
DG: 0.00 (-48)
DL: 0.00 (35)
Intron 7 c.869+288_869+322del35 not reportedAsymptomatic:1
- -
Intron 7 c.869+611_869+629del19 not reportedPending (NBS):1
- -
Intron 7 c.870-1113_870-1110del disease-causingCF:22
CFTR-RD:11
Pending:1
- -
Intron 7 c.870-1113_870-1110delGAAT not reportedAsymptomatic:1
CFTR-RD:1
- AG: 0.29 (-48)
AL: 0.00 (26)
DG: 0.00 (47)
DL: 0.00 (-48)
Exon 8 c.948del 1078delT disease-causingCF:34
CFTR-RD:2
Pending:4
- -
Exon 8 c.959del disease-causingCF:1
- -
Exon 8 c.1002del I336delG VUS - -
Exon 8 c.1029del 1161delC disease-causingCF:4
- -
Exon 8 c.1081del 1213delT disease-causingPending:1
- -
Exon 8 c.1083del 1215delG disease-causingCF:2
- -
Exon 8 c.935_937del ΔF311 disease-causingCFTR-RD:2
Pending:1
- -
Exon 8 c.1093_1094del 1221delCT disease-causingCF:4
- -
Intron 8 c.1117-358delT not reportedAsymptomatic:19
CF:8
CFTR-RD:11
Pending (NBS):4
Suspicion of CF:27
7e-06 AG: 0.00 (42)
AL: 0.00 (46)
DG: 0.00 (38)
DL: 0.00 (25)
Exon 9 c.1162_1168del 1294del7 disease-causingCF:1
- -
Intron 9 c.1209+142_1209+148del7 not reportedCF:1
- -
Intron 9 c.1209+153_1209+178del26 not reportedCF:1
- -
Intron 9 c.1210-275_1210-274delAT not reportedSuspicion of CF:1
- -
Intron 9 c.1209+2122_1209+2126del5 not reportedSuspicion of CF:1
0.00143 -
Intron 9 c.1209+1964_1209+1975del12 not reportedCFTR-RD:1
- -
Intron 9 c.1209+2111_1209+2113delGGA not reportedSuspicion of CF:1
0.001431 AG: 0.00 (10)
AL: 0.08 (-25)
DG: 0.00 (-2)
DL: 0.00 (16)
Exon 10 c.1235del 1367delC disease-causingCF:2
- -
Intron 10 c.1392+1del VUSCF:2
- -
Exon 10 c.1330_1331del 1460delAT disease-causingCF:1
- -
Exon 10 c.1360_1368del 1491_1500del VUSCF:1
- -
Intron 10 c.1392+198delT not reportedAsymptomatic:16
CF:10
CFTR-RD:11
Pending (NBS):12
Suspicion of CF:5
0.376539 AG: 0.00 (44)
AL: 0.00 (8)
DG: 0.00 (-6)
DL: 0.00 (-8)
Exon 10 c.1234_1238del5 not reported - -
Intron 10 c.1393-2926delG not reported - -
Intron 10 c.1392+617_1392+624del8 not reportedPending (NBS):1
- -
Intron 10 c.1393-613_1393-604del10 not reportedPending (NBS):1
- -
Intron 10 c.1392+3810_1392+3818del9 not reportedCFTR-RD:1
- -
Intron 10 c.1392+3257_1392+3277del21 not reportedCFTR-RD:1
- -
Intron 10 c.1393-1489_1393-1488delTA not reportedCF:1
CFTR-RD:1
Pending (NBS):1
Suspicion of CF:2
0.001614 AG: 0.00 (31)
AL: 0.00 (-9)
DG: 0.00 (31)
DL: 0.00 (0)
Intron 10 c.1393-1912_1393-1899del14 not reportedAsymptomatic:15
CF:14
CFTR-RD:13
Pending (NBS):15
Suspicion of CF:13
0.236563 -
Intron 10 c.1393-2927_1393-2926delTG not reported - -
Intron 10 c.1393-3544_1393-3535del10 not reportedAsymptomatic:1
- -
Intron 10 c.1393-3575_1393-3559del17 not reportedPending (NBS):1
- -
Intron 10 c.1393-5118_1393-5109del10 not reportedAsymptomatic:1
- -
Exon 11 c.1418del 1548delG disease-causingCF:1
CFTR-RD:1
- -
Exon 11 c.1477_1478del 1609delCA disease-causingCF:4
- -
Exon 11 c.1519_1521del ΔI507 disease-causingAsymptomatic:2
CF:40
CFTR-RD:7
Pending:1
- -
Exon 11 c.1521_1523del ΔF508 disease-causingAsymptomatic:6
CF:11
CFTR-RD:8
Pending (NBS):13
Suspicion of CF:11
Asymptomatic:65
CF:2608
CFTR-RD:842
Fetal bowel anomalies:56
Pending:213
Ultrasound signs of fetal anomalies:1
0.00796 AG: 0.00 (-39)
AL: 0.01 (29)
DG: 0.00 (-39)
DL: 0.00 (-10)
Exon 11 c.1545_1546del 1677delTA disease-causingAsymptomatic:1
CF:8
CFTR-RD:3
- -
Intron 11 c.1585-443delA not reportedInfertility:1
- AG: 0.00 (-2)
AL: 0.00 (14)
DG: 0.00 (29)
DL: 0.01 (-8)
Intron 11 c.1584+3867delA not reportedCFTR-RD:1
0.038238 AG: 0.00 (-6)
AL: 0.00 (-32)
DG: 0.00 (-26)
DL: 0.00 (-32)
Intron 11 c.1585-3307delC not reportedSuspicion of CF:1
0.001082 AG: 0.00 (-8)
AL: 0.00 (12)
DG: 0.00 (48)
DL: 0.00 (-4)
Intron 11 c.1585-4416delC not reportedSuspicion of CF:1
0.0166 AG: 0.00 (-7)
AL: 0.00 (39)
DG: 0.00 (-32)
DL: 0.00 (-30)
Intron 11 c.1584+13048delC not reportedCF:1
Suspicion of CF:1
5.6e-05 AG: 0.00 (-28)
AL: 0.00 (32)
DG: 0.00 (36)
DL: 0.00 (43)
Intron 11 c.1585-10862delC not reportedAsymptomatic:3
CF:2
CFTR-RD:3
Pending (NBS):2
Suspicion of CF:5
0.173777 AG: 0.00 (9)
AL: 0.00 (5)
DG: 0.00 (-36)
DL: 0.00 (-43)
Exon 11 c.1579_1584+11del 1706del17 disease-causingCFTR-RD:1
- -
Intron 11 c.1584+3634_1584+3641del8 not reportedSuspicion of CF:1
- -
Intron 11 c.1584+2686_1584+2687delAT not reportedAsymptomatic:1
- -
Intron 11 c.1585-7695_1585-7670del26 not reportedPending (NBS):1
- -
Intron 11 c.1585-8954_1585-8953delCT not reportedSuspicion of CF:1
5.6e-05 AG: 0.00 (-23)
AL: 0.00 (-28)
DG: 0.00 (-34)
DL: 0.00 (-13)
Intron 11 c.1585-11786_1585-11779del8 not reportedAsymptomatic:1
- -
Intron 11 c.1584+13403_1584+13414del12 not reportedAsymptomatic:10
CF:5
CFTR-RD:10
Infertility:1
Pending (NBS):11
Suspicion of CF:18
0.165173 -
Intron 11 c.1584+13403_1584+13416del14 not reportedAsymptomatic:1
Pending (NBS):1
Suspicion of CF:1
0.000154 -
Intron 11 c.1585-13074_1585-13063del12 not reportedAsymptomatic:1
- -
Exon 12 c.1650del 1782delA disease-causingCF:1
- -
Exon 12 c.1670del 1802delC disease-causingCF:4
- -
Exon 12 c.1674del 1806delA disease-causingCF:1
- -
Exon 12 c.1642_1643del 1774delCT disease-causingCF:1
- -
Exon 13 c.1703del 1833delT disease-causingCF:1
- -
Intron 13 c.1766+492_1766+511del20 not reportedAsymptomatic:1
- -
Exon 14 c.1904del disease-causingCF:1
- -
Exon 14 c.1911del 2043delG disease-causing - -
Exon 14 c.1981del 2113delA disease-causingCF:1
- -
Exon 14 c.2012del 2143delT disease-causingCF:5
- -
Exon 14 c.2045del disease-causingCF:1
- -
Exon 14 c.2052del 2184delA disease-causingCF:9
CFTR-RD:4
Pending:1
- -
Exon 14 c.2215del 2347delG disease-causingCF:7
- -
Exon 14 c.2291del 2423delG disease-causingCF:1
- -
Exon 14 c.2373del disease-causingCFTR-RD:1
- -
Exon 14 c.2443del disease-causingCF:1
- -
Exon 14 c.2450del disease-causingCF:1
- -
Exon 14 c.1792_1798del 1924del7 disease-causingCF:1
- -
Exon 14 c.1820_1903del 1949del84 disease-causingCF:4
CFTR-RD:1
- -
Exon 14 c.1986_1989del 2118del4 ; 2116delCTAA disease-causingCF:5
CFTR-RD:1
- -
Exon 14 c.2051_2052del 2183delAA disease-causingCF:1
- -
Exon 14 c.2241_2248del 2372del8 disease-causingCF:1
- -
Exon 14 c.2249_2256del 2380_2387del disease-causingCF:1
- -
Exon 14 c.2324_2325del 2456delAC disease-causingCF:1
- -
Intron 14 c.2490+1105delA not reportedCFTR-RD:1
0.01591 AG: 0.00 (18)
AL: 0.00 (21)
DG: 0.00 (7)
DL: 0.00 (-22)
Intron 14 c.2490+4_2490+7del VUS - -
Exon 15 c.2502del 2634delT disease-causingCF:1
- -
Exon 15 c.2508del 2640delT disease-causingCF:1
- -
Exon 15 c.2583del 2711delT disease-causingCF:9
Pending:1
- -
Exon 15 c.2589_2599del 2721del11 disease-causingCF:1
- -
Intron 15 c.2619+20_2619+24del IVS14a+17del5 VUSCFTR-RD:1
- -
Intron 15 c.2619+86_2619+87del non disease-causingAsymptomatic:17
CF:17
CFTR-RD:87
Fetal bowel anomalies:1
Pending:17
- -
Intron 15 c.2619+86_2619+87delTA non disease-causingAsymptomatic:13
CF:4
CFTR-RD:12
Infertility:1
Pending (NBS):11
Suspicion of CF:23
0.439136 AG: 0.00 (30)
AL: 0.00 (36)
DG: 0.00 (-46)
DL: 0.00 (8)
Intron 15 c.2619+3549_2619+3556del8 not reportedAsymptomatic:1
- -
Intron 15 c.2619+3757_2619+3765del9 not reportedSuspicion of CF:1
- -
Intron 15 c.2620-851_2620-849delATA not reportedAsymptomatic:11
CF:8
CFTR-RD:9
Infertility:1
Pending (NBS):10
Suspicion of CF:15
0.161761 AG: 0.00 (-9)
AL: 0.00 (46)
DG: 0.00 (-5)
DL: 0.00 (46)
Intron 15 c.2620-3257_2620-3256delTT not reportedSuspicion of CF:1
0.015124 AG: 0.00 (-17)
AL: 0.00 (-32)
DG: 0.00 (26)
DL: 0.00 (-3)
Exon 16 c.2637_2644del disease-causingCF:1
- -
Exon 17 c.2875del 3007delG disease-causingCF:1
CF:14
CFTR-RD:2
- AG: 0.00 (-43)
AL: 0.00 (2)
DG: 0.04 (34)
DL: 0.00 (30)
Intron 17 c.2909-730_2909-720del11 not reportedAsymptomatic:1
- -
Intron 17 c.2908+390_2908+393delCTAT not reportedAsymptomatic:1
Suspicion of CF:1
0.049837 AG: 0.00 (-7)
AL: 0.00 (14)
DG: 0.00 (25)
DL: 0.00 (45)
Exon 18 c.2924_2925del 3056delGA disease-causingCF:1
- -
Intron 18 c.2989-124_2989-120del5 not reportedAsymptomatic:1
0.000106 -
Intron 18 c.2989-1792_2989-1783del10 not reportedAsymptomatic:1
- -
Exon 19 c.3011del disease-causingCF:2
- -
Exon 19 c.3022del 3154delG disease-causingCF:1
- -
Exon 19 c.3138del VUSCF:1
- -
Exon 19 c.2997_3000del 3129del4 ; 3126del4 disease-causingCF:1
Fetal bowel anomalies:1
- -
Exon 19 c.3011_3019del 3143del9 disease-causing - -
Exon 19 c.3064_3117del 3196del54 disease-causingCF:1
- -
Exon 19 c.3067_3072del 3199del6 ; 3195del6 disease-causingAsymptomatic:1
CF:9
CFTR-RD:2
Pending:1
- -
Exon 19 c.3068_3072del 3200_3204delTAGTG disease-causingCF:1
- -
Intron 19 c.3139+121_3139+135del15 not reportedAsymptomatic:1
- -
Exon 20 c.3180del 3312delA VUS - -
Exon 20 c.3264del 3396delC disease-causingCF:1
- -
Exon 20 c.3324del disease-causingCF:1
- -
Exon 20 c.3229_3230del 3359delCT disease-causingCF:2
- -
Intron 20 c.3367+212_3367+259del48 not reportedCFTR-RD:1
- -
Intron 20 c.3367+214_3367+259del46 not reportedAsymptomatic:9
CF:7
CFTR-RD:9
Infertility:1
Pending (NBS):10
Suspicion of CF:5
- -
Intron 20 c.3367+215_3367+216delGT not reportedAsymptomatic:3
CF:2
0 AG: 0.00 (44)
AL: 0.00 (48)
DG: 0.00 (5)
DL: 0.00 (1)
Intron 20 c.3367+215_3367+226del12 not reportedAsymptomatic:1
- -
Intron 20 c.3367+215_3367+258del44 not reportedPending (NBS):1
- -
Intron 20 c.3367+246_3367+255del10 not reportedAsymptomatic:1
0.008076 -
Intron 20 c.3368-589_3368-588delTG not reportedAsymptomatic:1
3.6e-05 AG: 0.00 (8)
AL: 0.00 (-28)
DG: 0.00 (10)
DL: 0.00 (8)
Intron 20 c.3368-1304_3368-1294del11 not reportedSuspicion of CF:1
- -
Exon 21 c.3371_3373del E1123del VUSCFTR-RD:1
Pending:1
- -
Exon 21 c.3419_3421del ΔM1140 disease-causing - -
Exon 21 c.3454_3455del VUSCF:1
- -
Intron 21 c.3468+146_3468+158del13 not reportedSuspicion of CF:1
- -
Intron 21 c.3468+1385_3468+1393del9 not reportedCFTR-RD:1
- -
Intron 21 c.3468+1239_3468+1248del10 not reportedSuspicion of CF:1
- -
Intron 21 c.3468+3108_3468+3119del12 not reportedCFTR-RD:1
- -
Intron 21 c.3468+4571_3468+4586del16 not reportedCFTR-RD:1
- -
Intron 21 c.3469-4936_3469-4926del11 not reportedAsymptomatic:1
- -
Intron 21 c.3468+4747_3468+4750delGTCT not reportedCFTR-RD:1
- -
Exon 22 c.3528del 3659delC disease-causingAsymptomatic:1
CF:24
CFTR-RD:1
Fetal bowel anomalies:1
Pending:2
- -
Exon 22 c.3605del 3737delA disease-causingCF:6
CFTR-RD:3
- -
Exon 22 c.3623del 3755delG disease-causingCF:1
- -
Exon 22 c.3659del 3791delC disease-causingCF:2
- -
Exon 22 c.3691del 3821delT disease-causingCF:1
- -
Intron 22 c.3717+53del VUSCFTR-RD:1
- -
Exon 22 c.3618_3619del 3750delAG disease-causingCF:1
- -
Intron 22 c.3718-1296_3718-1288del9 not reportedCF:1
- -
Intron 22 c.3718-6371_3718-6363del9 not reportedAsymptomatic:1
- -
Intron 22 c.3718-2960_3718-2959delTG not reportedAsymptomatic:2
CFTR-RD:1
0.008149 AG: 0.00 (-16)
AL: 0.00 (-22)
DG: 0.00 (26)
DL: 0.00 (23)
Intron 22 c.3718-3514_3718-3497del18 not reportedAsymptomatic:1
- -
Intron 22 c.3718-6952_3718-6943del10 not reportedAsymptomatic:1
- -
Intron 22 c.3718-5379_3718-5376delTGCC not reported - -
Exon 23 c.3747del 3878delG disease-causing - -
Intron 23 c.3874-352delT not reportedCF:1
Suspicion of CF:1
0.000349 AG: 0.00 (-27)
AL: 0.00 (-43)
DG: 0.00 (-1)
DL: 0.00 (-28)
Intron 23 c.3874-19_3874-17del 4006-19del3 VUSAsymptomatic:1
- -
Intron 23 c.3873+3226_3873+3234del9 not reportedAsymptomatic:1
- -
Intron 23 c.3874-1131_3874-1124del8 not reportedAsymptomatic:1
- -
Intron 23 c.3873+3705_3873+3725del21 not reportedAsymptomatic:1
- -
Intron 23 c.3874-3564_3874-3563delAT not reportedAsymptomatic:3
CF:3
CFTR-RD:1
Suspicion of CF:1
0 AG: 0.00 (-50)
AL: 0.00 (29)
DG: 0.00 (0)
DL: 0.00 (-12)
Exon 24 c.3883del 4015delA disease-causingCF:2
- -
Exon 24 c.3883_3886del 4010del4 disease-causingCF:4
CFTR-RD:1
- -
Intron 24 c.3963+1556delT not reportedCFTR-RD:1
0.020553 AG: 0.00 (-25)
AL: 0.00 (39)
DG: 0.00 (19)
DL: 0.00 (1)
Intron 24 c.3964-2060delA not reportedSuspicion of CF:1
0.026785 AG: 0.00 (-26)
AL: 0.00 (3)
DG: 0.00 (49)
DL: 0.00 (12)
Intron 24 c.3964-4760delC not reportedSuspicion of CF:1
0.0006 AG: 0.00 (20)
AL: 0.00 (-13)
DG: 0.00 (11)
DL: 0.00 (22)
Intron 24 c.3963+2655_3963+2663del9 not reportedAsymptomatic:1
- -
Intron 24 c.3964-1615_3964-1607del9 not reportedAsymptomatic:1
- -
Intron 24 c.3964-3612_3964-3605del8 not reportedAsymptomatic:1
- -
Intron 24 c.3963+2135_3963+2162del28 not reportedAsymptomatic:1
- -
Intron 24 c.3964-2682_3964-2681delAC not reported - -
Intron 24 c.3964-4498_3964-4488del11 not reportedPending (NBS):1
- -
Exon 25 c.4071del disease-causingCF:1
- -
Intron 26 c.4243-7del disease-causingCFTR-RD:2
- -
Intron 26 c.4243-32del VUSCFTR-RD:1
- -
Intron 26 c.4243-33del VUS - -
Exon 26 c.4197_4198del 4326delTC disease-causingCF:1
- -
Exon 26 c.4200_4201del 4332delTG disease-causingCF:1
CFTR-RD:3
- -
Exon 27 c.4251del 4382delA disease-causingCF:6
- -





Go to CFTRare
VLMCHUUM