Variant NM_000492.4:c.1210-34_1210-6TG[12]T[5]


Variant details:
Name NM_000492.4:c.1210-34_1210-6TG[12]T[5]
#Exon/intron intron 9
Legacy Name TG12T5
Class disease-causing
Subclass CFTR-RD-causing
complex allele in 1.35% of patients associated with
  • c.2930C>T - p.(Ser977Phe) : 100.00%







    • External sources:

    Not found    		 dbSNP
    no rs
    Not found
    Not found







    No patient found in CFTR-NGS catalogue


    446 patients carrying this variant are reported in CFTR-France:

    TOTAL NUMBER OF PATIENTS 446
    Asymptomatic compound heterozygote 17
    CF 19
    CFTR-RD391
    • Aquagenic palmoplantar keratoderma  2
    • Bronchiectasis  32
    • CBAVD  284
    • CRS-NP  4
    • Other  35
    • Pancreatitis  34
    Fetal bowel anomalies 1
    Pending 5
    Pending (NBS) 12
    Pending non-CF 1



    Detailed genotypes:
    Phenotype Patient ID Variant status Additional variants
    Other 27heterozygoteCF-causing - Trans
    Other 4690heterozygoteCF-causing - Trans
    Other 4695heterozygoteCF-causing- Undef
    Other 4711heterozygoteCF-causing- Undef
    Other 4713heterozygoteCF-causing - Trans
    Other 4715heterozygoteCF-causing - Trans
    Other 4731heterozygoteCF-causing- Undef
    Other 4835heterozygoteVUS3 - Trans
    Other 358heterozygoteCF-causing - Trans
    Other 756heterozygoteCF-causing - Trans
    Other 779heterozygoteCF-causing - Trans
    Other 851heterozygoteCF-causing - Trans
    Other 937heterozygoteCF-causing - Trans
    Other 980heterozygotevarying clinical consequence - Cis
    CF-causing - Trans
    Other 4826heterozygoteVUS3 - Trans
    Other 5225heterozygoteVUS3 - Trans
    Other 5523heterozygoteCF-causing- Undef
    Other 5522heterozygoteCF-causing- Undef
    Other 5518heterozygoteCF-causing- Undef
    Other 4774heterozygoteCF-causing - Trans
    Other 1099heterozygoteCF-causing - Trans
    Other 1123heterozygoteCF-causing- Undef
    Other 1136heterozygoteCF-causing - Trans
    Other 5678heterozygotevarying clinical consequence - Trans
    Other 2448heterozygoteCF-causing - Trans
    Other 2474heterozygoteCF-causing- Undef
    Other 2771heterozygoteCF-causing - Trans
    Other 2801heterozygoteCF-causing - Trans
    Other 2952heterozygoteCF-causing - Trans
    Other 5616heterozygoteVUS3 - Trans
    Other 4563heterozygoteCF-causing - Trans
    VUS3- Undef
    Other 4568heterozygoteVUS3- Undef
    Other 4820homozygotec.1210-34_1210-6TG[12]T[5] - Trans
    Other 1277homozygotec.1210-34_1210-6TG[12]T[5] - Trans
    Other 2587homozygotec.1210-34_1210-6TG[12]T[5] - Trans
    CBAVD 2120heterozygoteCF-causing - Trans
    CBAVD 2134heterozygoteCF-causing - Trans
    CBAVD 2138heterozygoteCF-causing- Undef
    CBAVD 2165heterozygoteCF-causing- Undef
    CBAVD 2258heterozygoteCF-causing - Trans
    CBAVD 2292heterozygoteCF-causing - Trans
    CBAVD 5392heterozygoteCFTR-RD-causing- Undef
    CBAVD 5439heterozygoteCF-causing- Undef
    CBAVD 5442heterozygoteCF-causing - Trans
    CBAVD 5872heterozygoteCFTR-RD-causing- Undef
    CFTR-RD-causing- Undef
    CFTR-RD-causing- Undef
    CBAVD 2009heterozygoteCF-causing - Trans
    CBAVD 2336heterozygoteCFTR-RD-causing- Undef
    CBAVD 2337heterozygoteCF-causing - Trans
    CBAVD 2460heterozygotevarying clinical consequence- Undef
    CF-causing- Undef
    CBAVD 2512heterozygoteCF-causing - Trans
    CBAVD 2514heterozygoteCF-causing - Trans
    CBAVD 2347heterozygoteCFTR-RD-causing- Undef
    CFTR-RD-causing- Undef
    CFTR-RD-causing- Undef
    CBAVD 2365heterozygotevarying clinical consequence- Undef
    CBAVD 2398heterozygoteCF-causing - Trans
    CBAVD 5380heterozygoteVUS3- Undef
    CBAVD 1434heterozygoteCF-causing- Undef
    CBAVD 1469heterozygoteCF-causing - Trans
    VUS3 - Trans
    CBAVD 1474heterozygotevarying clinical consequence- Undef
    CBAVD 1477heterozygoteCF-causing - Trans
    CBAVD 1483heterozygoteCF-causing - Trans
    CBAVD 1485heterozygoteCF-causing - Trans
    CBAVD 1486heterozygoteCF-causing- Undef
    CBAVD 1492heterozygoteVUS4- Undef
    CBAVD 1493heterozygoteCF-causing - Trans
    CBAVD 1494heterozygoteCF-causing - Trans
    CBAVD 1498heterozygoteCF-causing - Trans
    CBAVD 1501heterozygoteCFTR-RD-causing- Undef
    CBAVD 1468heterozygoteCF-causing- Undef
    CBAVD 1465heterozygoteVUS2 - Cis
    CF-causing - Trans
    CBAVD 1462heterozygoteCF-causing- Undef
    CBAVD 1438heterozygotevarying clinical consequence- Undef
    CBAVD 1444heterozygoteCF-causing - Trans
    CBAVD 1446heterozygoteCF-causing - Trans
    CBAVD 1448heterozygoteCF-causing - Trans
    CBAVD 1449heterozygoteCF-causing - Trans
    CBAVD 1452heterozygoteCF-causing - Trans
    CBAVD 1454heterozygotevarying clinical consequence- Undef
    CBAVD 1455heterozygoteCF-causing- Undef
    CBAVD 1457heterozygoteCF-causing - Trans
    CBAVD 1458heterozygoteCF-causing - Trans
    CBAVD 1459heterozygoteCF-causing - Trans
    CBAVD 1502heterozygoteCF-causing - Trans
    CBAVD 1503heterozygoteCF-causing - Trans
    CBAVD 4978heterozygoteVUS3- Undef
    CBAVD 4981heterozygoteCF-causing- Undef
    CBAVD 4994heterozygoteCF-causing- Undef
    CBAVD 5035heterozygoteCF-causing- Undef
    CBAVD 5060heterozygoteVUS4- Undef
    CBAVD 5290heterozygoteCF-causing- Undef
    CBAVD 4972heterozygoteCF-causing- Undef
    CBAVD 4969heterozygoteCF-causing- Undef
    CBAVD 1511heterozygoteCF-causing- Undef
    CBAVD 1746heterozygoteCF-causing- Undef
    CBAVD 4874heterozygotevarying clinical consequence- Undef
    CBAVD 3303heterozygoteCF-causing- Undef
    CBAVD 3365heterozygoteCF-causing - Trans
    CBAVD 3367heterozygotevarying clinical consequence - Trans
    CBAVD 3368heterozygoteCF-causing- Undef
    CBAVD 3375heterozygoteCF-causing - Trans
    CBAVD 3394heterozygotevarying clinical consequence - Cis
    CF-causing - Trans
    CBAVD 3401heterozygoteCF-causing - Trans
    CBAVD 5591heterozygotevarying clinical consequence - Trans
    CBAVD 5592heterozygoteCF-causing- Undef
    CBAVD 5593heterozygotevarying clinical consequence- Undef
    CBAVD 3363heterozygoteCF-causing - Trans
    CBAVD 3360heterozygoteCF-causing - Trans
    CBAVD 3353heterozygotevarying clinical consequence- Undef
    CBAVD 3313heterozygoteCF-causing- Undef
    CBAVD 3316heterozygoteCF-causing- Undef
    CBAVD 3317heterozygoteCF-causing - Trans
    CBAVD 3325heterozygoteCF-causing - Trans
    CBAVD 3326heterozygote
    CBAVD 3327heterozygoteCF-causing - Trans
    CBAVD 3329heterozygoteCF-causing - Trans
    CBAVD 3338heterozygoteCF-causing - Trans
    CBAVD 3341heterozygoteCF-causing- Undef
    CBAVD 3352heterozygoteCF-causing - Trans
    CBAVD 5969heterozygoteCF-causing - Trans
    CBAVD 5172heterozygoteCF-causing- Undef
    CBAVD 4577heterozygotevarying clinical consequence- Undef
    CBAVD 4578heterozygoteCF-causing - Trans
    CBAVD 4592heterozygotevarying clinical consequence - Trans
    CBAVD 4595heterozygotevarying clinical consequence- Undef
    CBAVD 4313heterozygoteCF-causing - Trans
    CBAVD 5787heterozygoteVUS4- Undef
    CBAVD 5966heterozygoteCF-causing- Undef
    CBAVD 5565heterozygoteCF-causing - Trans
    varying clinical consequence- Undef
    CBAVD 3301heterozygoteCF-causing - Trans
    CBAVD 4875heterozygoteCF-causing- Undef
    CBAVD 2726heterozygote
    CBAVD 2730heterozygoteCF-causing- Undef
    CBAVD 2751heterozygoteCF-causing- Undef
    CBAVD 2776heterozygoteCF-causing- Undef
    CBAVD 3063heterozygoteCF-causing - Trans
    CBAVD 2780heterozygote
    CBAVD 2784heterozygoteCF-causing - Trans
    CBAVD 2790heterozygoteCF-causing- Undef
    CBAVD 2794heterozygoteCF-causing - Trans
    CBAVD 2800heterozygotevarying clinical consequence - Cis
    varying clinical consequence - Trans
    CBAVD 2720heterozygoteCF-causing- Undef
    CBAVD 2718heterozygoteCF-causing - Trans
    CBAVD 2695heterozygoteCF-causing - Trans
    CBAVD 4896heterozygote
    CBAVD 4911heterozygoteCF-causing- Undef
    CBAVD 4922heterozygoteCF-causing- Undef
    CBAVD 4928heterozygoteCF-causing- Undef
    CBAVD 2886heterozygoteVUS2- Undef
    VUS4- Undef
    VUS4- Undef
    CBAVD 3160heterozygoteCF-causing- Undef
    CBAVD 3201heterozygoteCF-causing - Trans
    CBAVD 3271heterozygotevarying clinical consequence- Undef
    CBAVD 3272heterozygoteCF-causing - Trans
    CBAVD 3274heterozygoteCF-causing- Undef
    CBAVD 3276heterozygoteCF-causing - Trans
    CBAVD 3290heterozygoteCF-causing - Trans
    CBAVD 3295heterozygotevarying clinical consequence - Trans
    CBAVD 4653heterozygotevarying clinical consequence- Undef
    CBAVD 5015heterozygoteCF-causing- Undef
    CBAVD 5022heterozygotevarying clinical consequence - Cis
    VUS3 - Trans
    VUS3- Undef
    CBAVD 2949heterozygoteCF-causing - Trans
    VUS1 - Trans
    CBAVD 489heterozygoteCFTR-RD-causing - Trans
    CBAVD 583heterozygoteVUS4- Undef
    CBAVD 591heterozygoteCF-causing - Trans
    CBAVD 599heterozygoteCF-causing - Trans
    CBAVD 605heterozygoteCF-causing - Trans
    CBAVD 619heterozygoteCF-causing - Trans
    VUS1- Undef
    CBAVD 626heterozygotevarying clinical consequence - Trans
    CBAVD 632heterozygoteCF-causing - Trans
    CBAVD 643heterozygotevarying clinical consequence- Undef
    CBAVD 653heterozygotevarying clinical consequence - Trans
    varying clinical consequence- Undef
    CBAVD 580heterozygoteCF-causing- Undef
    CBAVD 557heterozygoteCF-causing - Trans
    CBAVD 495heterozygoteCF-causing - Trans
    VUS1 - Trans
    CBAVD 499heterozygoteCF-causing - Trans
    VUS1- Undef
    CBAVD 501heterozygoteCF-causing - Trans
    CBAVD 514heterozygoteCF-causing - Trans
    CBAVD 518heterozygoteCF-causing- Undef
    CBAVD 524heterozygote
    CBAVD 528heterozygoteCF-causing - Trans
    CBAVD 531heterozygote
    CBAVD 532heterozygoteCF-causing - Trans
    VUS1- Undef
    CBAVD 538heterozygoteCFTR-RD-causing - Cis
    CFTR-RD-causing - Trans
    CBAVD 665heterozygoteCF-causing - Trans
    CBAVD 674heterozygoteCF-causing - Trans
    CBAVD 819heterozygoteCF-causing - Trans
    CBAVD 825heterozygoteCF-causing - Trans
    CBAVD 841heterozygoteCF-causing- Undef
    CBAVD 852heterozygoteCF-causing- Undef
    CBAVD 856heterozygoteCF-causing - Trans
    CBAVD 861heterozygoteCF-causing - Trans
    CBAVD 873heterozygoteCF-causing - Trans
    CBAVD 887heterozygoteCF-causing- Undef
    CBAVD 890heterozygoteCF-causing - Trans
    CBAVD 792heterozygoteCF-causing - Trans
    CBAVD 689heterozygoteCF-causing - Trans
    CBAVD 698heterozygoteCF-causing - Trans
    CBAVD 722heterozygoteCF-causing - Trans
    CBAVD 735heterozygoteCF-causing - Trans
    CBAVD 743heterozygoteCF-causing - Trans
    CBAVD 746heterozygote
    CBAVD 755heterozygoteCF-causing - Trans
    CBAVD 770heterozygoteCF-causing - Trans
    CBAVD 918heterozygoteCF-causing - Trans
    CBAVD 486heterozygoteCF-causing - Trans
    CBAVD 4727heterozygoteCF-causing - Trans
    CBAVD 413heterozygoteCF-causing - Trans
    CBAVD 4837heterozygotevarying clinical consequence- Undef
    CBAVD 4838heterozygotevarying clinical consequence- Undef
    CBAVD 4717heterozygoteCF-causing - Trans
    CBAVD 57heterozygotevarying clinical consequence - Trans
    CBAVD 68heterozygoteCF-causing - Trans
    CBAVD 4699heterozygoteCF-causing - Trans
    VUS2- Undef
    CBAVD 4703heterozygoteCF-causing - Trans
    CBAVD 4712heterozygoteCF-causing- Undef
    CBAVD 444heterozygoteCF-causing - Trans
    CBAVD 445heterozygoteCF-causing- Undef
    CBAVD 446heterozygoteCF-causing - Trans
    CBAVD 450heterozygoteCF-causing - Trans
    CBAVD 454heterozygoteCF-causing - Trans
    CBAVD 458heterozygoteCF-causing - Trans
    CBAVD 460heterozygoteCF-causing - Trans
    CBAVD 463heterozygoteCF-causing - Trans
    CBAVD 465heterozygoteVUS4 - Cis
    CF-causing - Trans
    CBAVD 473heterozygoteCF-causing - Trans
    CBAVD 439heterozygoteVUS3 - Trans
    CF-causing - Trans
    CBAVD 435heterozygoteCF-causing - Trans
    CBAVD 429heterozygoteCF-causing - Trans
    CBAVD 391heterozygoteCF-causing - Trans
    VUS2 - Trans
    CBAVD 393heterozygoteCF-causing - Trans
    CBAVD 402heterozygoteCF-causing - Trans
    CBAVD 405heterozygote
    CBAVD 408heterozygoteCF-causing - Trans
    CBAVD 410heterozygoteCF-causing - Trans
    CBAVD 414heterozygoteCF-causing - Trans
    CBAVD 418heterozygotevarying clinical consequence- Undef
    CBAVD 421heterozygoteCF-causing - Trans
    CBAVD 476heterozygoteCF-causing - Trans
    CBAVD 1308heterozygoteCF-causing- Undef
    CBAVD 1343heterozygotevarying clinical consequence- Undef
    CBAVD 1344heterozygoteCF-causing- Undef
    CBAVD 1346heterozygoteCF-causing - Trans
    CBAVD 1348heterozygoteCF-causing - Trans
    CBAVD 1349heterozygoteCF-causing - Trans
    CBAVD 1356heterozygoteCF-causing- Undef
    CBAVD 1357heterozygoteCF-causing - Trans
    CBAVD 1359heterozygoteCF-causing - Trans
    CBAVD 1367heterozygoteCF-causing - Trans
    CBAVD 1368heterozygotevarying clinical consequence- Undef
    CBAVD 1370heterozygoteCF-causing- Undef
    CBAVD 1339heterozygoteCF-causing- Undef
    CBAVD 1336heterozygoteCF-causing - Trans
    CBAVD 1334heterozygote
    CBAVD 1316heterozygoteCF-causing - Trans
    CBAVD 4850heterozygoteCFTR-RD-causing - Trans
    CBAVD 1321heterozygoteCF-causing - Trans
    CBAVD 1322heterozygoteCF-causing - Trans
    CBAVD 1324heterozygoteVUS4- Undef
    CBAVD 1326heterozygoteCF-causing - Trans
    CBAVD 1328heterozygoteCF-causing- Undef
    CBAVD 1330heterozygoteCF-causing- Undef
    CBAVD 1331heterozygoteCF-causing- Undef
    CBAVD 1371heterozygoteVUS4- Undef
    CBAVD 1375heterozygoteCF-causing - Trans
    CBAVD 1376heterozygoteCF-causing - Trans
    CBAVD 1411heterozygoteCF-causing - Trans
    CBAVD 1413heterozygotevarying clinical consequence- Undef
    CBAVD 1414heterozygoteCF-causing - Trans
    CBAVD 1415heterozygoteCF-causing - Trans
    CBAVD 1416heterozygoteCF-causing - Trans
    CBAVD 1418heterozygoteCF-causing - Trans
    CBAVD 1419heterozygoteCFTR-RD-causing- Undef
    CBAVD 1420heterozygoteCF-causing - Trans
    CBAVD 1421heterozygoteCF-causing - Trans
    VUS2- Undef
    CBAVD 1422heterozygoteCF-causing- Undef
    CBAVD 1424heterozygoteCF-causing - Trans
    CBAVD 1408heterozygoteCF-causing - Trans
    CBAVD 1407heterozygoteCF-causing - Trans
    CBAVD 1405heterozygoteCF-causing - Trans
    CBAVD 1380heterozygoteCF-causing - Trans
    CBAVD 1383heterozygoteCF-causing - Trans
    CBAVD 1384heterozygotevarying clinical consequence- Undef
    CBAVD 1388heterozygoteCF-causing- Undef
    CBAVD 1391heterozygoteCF-causing - Trans
    CBAVD 1395heterozygoteCF-causing - Trans
    CBAVD 1396heterozygoteCF-causing - Trans
    CBAVD 1398heterozygoteCF-causing - Trans
    CBAVD 1400heterozygoteCF-causing - Trans
    CBAVD 1402heterozygoteCF-causing - Trans
    CBAVD 1403heterozygoteCF-causing - Trans
    CBAVD 1428heterozygoteCF-causing - Trans
    CBAVD 1296heterozygoteCF-causing - Trans
    VUS1- Undef
    CBAVD 961heterozygoteCF-causing - Trans
    CBAVD 5524heterozygoteCF-causing- Undef
    CBAVD 5265heterozygoteCF-causing- Undef
    CBAVD 963heterozygoteCFTR-RD-causing- Undef
    CBAVD 981heterozygoteCFTR-RD-causing- Undef
    CBAVD 986heterozygoteCF-causing- Undef
    CBAVD 988heterozygoteCF-causing - Trans
    CBAVD 4824heterozygoteCF-causing - Trans
    CBAVD 5228heterozygoteVUS3- Undef
    CBAVD 1048heterozygoteCF-causing - Trans
    CBAVD 4794heterozygoteCF-causing- Undef
    CBAVD 1280heterozygoteCF-causing- Undef
    CBAVD 5234heterozygoteCF-causing - Trans
    VUS3- Undef
    CBAVD 1270heterozygoteCF-causing - Trans
    CBAVD 1250heterozygoteCF-causing- Undef
    CBAVD 1287heterozygotevarying clinical consequence- Undef
    CBAVD 5231heterozygoteCF-causing- Undef
    CBAVD 4795heterozygoteCF-causing- Undef
    CBAVD 1055heterozygoteCF-causing - Trans
    CBAVD 1065heterozygoteCF-causing - Trans
    CBAVD 1291heterozygoteCF-causing - Trans
    CBAVD 1288heterozygoteCF-causing - Trans
    CBAVD 1067heterozygoteCF-causing - Trans
    CBAVD 5230heterozygoteCF-causing- Undef
    CBAVD 1252heterozygoteVUS3 - Trans
    CF-causing - Trans
    CBAVD 4902homozygotec.1210-34_1210-6TG[12]T[5] - Trans
    CBAVD 1722homozygotec.1210-34_1210-6TG[12]T[5] - Trans
    c.2619+3A>G - p.(=) - Trans
    CBAVD 5232homozygotec.1210-34_1210-6TG[12]T[5] - Trans
    CBAVD 784homozygotec.1210-34_1210-6TG[12]T[5] - Trans
    Pancreatitis 2110heterozygotevarying clinical consequence - Trans
    Pancreatitis 2198heterozygoteCFTR-RD-causing- Undef
    Pancreatitis 2325heterozygote
    Pancreatitis 2334heterozygoteVUS3- Undef
    Pancreatitis 2073heterozygoteVUS4- Undef
    Pancreatitis 2529heterozygote
    Pancreatitis 2530heterozygote
    Pancreatitis 2435heterozygote
    Pancreatitis 2417heterozygotevarying clinical consequence- Undef
    Pancreatitis 2354heterozygoteVUS2- Undef
    Pancreatitis 2370heterozygote
    Pancreatitis 2372heterozygote
    Pancreatitis 2538heterozygoteCFTR-RD-causing- Undef
    CFTR-RD-causing- Undef
    Pancreatitis 4993heterozygoteCF-causing- Undef
    Pancreatitis 5054heterozygoteVUS3- Undef
    Pancreatitis 1851heterozygoteVUS4 - Trans
    Pancreatitis 1650heterozygoteCFTR-RD-causing- Undef
    Pancreatitis 1716heterozygoteVUS2- Undef
    Pancreatitis 1725heterozygotevarying clinical consequence- Undef
    Pancreatitis 1735heterozygoteCF-causing - Trans
    Pancreatitis 5326heterozygotevarying clinical consequence - Cis
    CF-causing - Trans
    Pancreatitis 5611heterozygoteVUS3- Undef
    Pancreatitis 4891heterozygoteCF-causing- Undef
    Pancreatitis 4898heterozygoteCFTR-RD-causing- Undef
    Pancreatitis 3224heterozygoteVUS3 - Trans
    VUS2- Undef
    VUS3- Undef
    Pancreatitis 2919heterozygoteVUS3 - Trans
    Pancreatitis 2984heterozygoteCFTR-RD-causing- Undef
    CFTR-RD-causing- Undef
    Pancreatitis 3024heterozygoteCF-causing - Trans
    Pancreatitis 3060heterozygoteVUS3- Undef
    Pancreatitis 625heterozygoteVUS3 - Trans
    Pancreatitis 205heterozygoteCF-causing - Trans
    Pancreatitis 80heterozygoteCF-causing - Trans
    Pancreatitis 5070heterozygoteVUS3- Undef
    Pancreatitis 2913homozygotec.1210-34_1210-6TG[12]T[5] - Trans
    Asymptomatic compound heterozygote 4673heterozygoteVUS3 - Trans
    Asymptomatic compound heterozygote 4955heterozygoteCFTR-RD-causing - Trans
    Asymptomatic compound heterozygote 459heterozygoteCF-causing - Trans
    Asymptomatic compound heterozygote 496heterozygoteCF-causing - Trans
    VUS1 - Trans
    Asymptomatic compound heterozygote 575heterozygoteCFTR-RD-causing - Trans
    Asymptomatic compound heterozygote 639heterozygotevarying clinical consequence - Trans
    Asymptomatic compound heterozygote 740heterozygoteCFTR-RD-causing - Cis
    CFTR-RD-causing - Trans
    Asymptomatic compound heterozygote 796heterozygoteCF-causing - Trans
    VUS4 - Trans
    Asymptomatic compound heterozygote 4959heterozygoteCF-causing - Trans
    Asymptomatic compound heterozygote 5139heterozygote
    Asymptomatic compound heterozygote 5535heterozygoteVUS3- Undef
    Asymptomatic compound heterozygote 5527heterozygoteVUS3- Undef
    Asymptomatic compound heterozygote 5233heterozygoteCF-causing - Trans
    Asymptomatic compound heterozygote 3012heterozygotevarying clinical consequence - Cis
    VUS1 - Trans
    Asymptomatic compound heterozygote 3013heterozygoteCF-causing - Trans
    Asymptomatic compound heterozygote 4637heterozygoteVUS3 - Trans
    Asymptomatic compound heterozygote 5595heterozygoteCF-causing- Undef
    Pending non-CF 4704heterozygoteCF-causing - Trans
    Pending (NBS) 5037heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    Pending (NBS) 4745heterozygotevarying clinical consequence- Undef
    CF-causing- Undef
    Pending (NBS) 4320heterozygoteCF-causing - Trans
    Pending (NBS) 5572heterozygoteCF-causing - Trans
    Pending (NBS) 3438heterozygoteCF-causing - Trans
    Pending (NBS) 4606heterozygoteCF-causing - Trans
    Pending (NBS) 4951heterozygoteCF-causing - Trans
    Pending (NBS) 4638heterozygoteCF-causing - Trans
    Pending (NBS) 4621heterozygoteCF-causing - Trans
    Pending (NBS) 769heterozygoteCFTR-RD-causing - Trans
    Pending (NBS) 4720heterozygoteCF-causing - Trans
    Pending (NBS) 1253heterozygoteCF-causing - Trans
    VUS3- Undef
    Bronchiectasis 4833heterozygoteCF-causing- Undef
    Bronchiectasis 4834heterozygoteCF-causing - Trans
    Bronchiectasis 914heterozygote
    Bronchiectasis 4773heterozygoteCF-causing - Trans
    VUS1- Undef
    VUS3- Undef
    Bronchiectasis 4870heterozygoteCFTR-RD-causing- Undef
    VUS3- Undef
    Bronchiectasis 1542heterozygoteCF-causing - Trans
    Bronchiectasis 5382heterozygoteCFTR-RD-causing- Undef
    Bronchiectasis 5464heterozygoteCFTR-RD-causing- Undef
    CFTR-RD-causing- Undef
    Bronchiectasis 1921heterozygote
    Bronchiectasis 5890heterozygoteCF-causing- Undef
    Bronchiectasis 2080heterozygoteVUS3 - Trans
    Bronchiectasis 2086heterozygoteVUS1- Undef
    Bronchiectasis 2108heterozygote
    Bronchiectasis 2315heterozygote
    Bronchiectasis 2340heterozygote
    Bronchiectasis 2342heterozygoteVUS3- Undef
    Bronchiectasis 2368heterozygoteCF-causing - Trans
    Bronchiectasis 2406heterozygoteCFTR-RD-causing- Undef
    Bronchiectasis 2412heterozygote
    Bronchiectasis 2413heterozygote
    Bronchiectasis 2455heterozygoteCFTR-RD-causing- Undef
    Bronchiectasis 2491heterozygote
    Bronchiectasis 2502heterozygoteCFTR-RD-causing- Undef
    VUS3- Undef
    Bronchiectasis 2533heterozygote
    Bronchiectasis 4947heterozygoteCF-causing- Undef
    Bronchiectasis 3084heterozygoteVUS3 - Trans
    Bronchiectasis 5952heterozygoteCF-causing - Trans
    Bronchiectasis 5589heterozygoteVUS3 - Trans
    Bronchiectasis 5564heterozygoteCF-causing - Trans
    VUS4 - Trans
    Bronchiectasis 4602heterozygotevarying clinical consequence- Undef
    Bronchiectasis 5028homozygotec.1210-34_1210-6TG[12]T[5] - Trans
    c.2930C>T - p.(Ser977Phe) - Trans
    Bronchiectasis 4611homozygotec.1210-34_1210-6TG[12]T[5] - Trans
    Aquagenic palmoplantar keratoderma 5304heterozygotevarying clinical consequence- Undef
    Aquagenic palmoplantar keratoderma 4957homozygotec.1210-34_1210-6TG[12]T[5] - Trans
    Pending 312heterozygote
    Pending 5216heterozygoteCF-causing- Undef
    Pending 1181heterozygoteCF-causing - Trans
    Pending 3165heterozygotevarying clinical consequence- Undef
    Pending 4746heterozygotevarying clinical consequence- Undef
    CF-causing- Undef
    CF 1964heterozygoteCF-causing - Trans
    CF 4988heterozygoteCF-causing- Undef
    CF 4968heterozygoteCF-causing - Trans
    CF 1519heterozygotevarying clinical consequence - Cis
    CF-causing - Trans
    CF 1527heterozygoteCF-causing - Trans
    CF 1549heterozygoteCF-causing - Cis
    CF-causing - Trans
    CF 1571heterozygoteCF-causing - Trans
    CF 4418heterozygoteCFTR-RD-causing - Cis
    CF-causing - Trans
    VUS3- Undef
    CF 4236heterozygoteCF-causing - Cis
    CF-causing - Trans
    CF 4893heterozygoteCF-causing- Undef
    VUS1- Undef
    VUS3- Undef
    CF 4903heterozygoteCF-causing- Undef
    VUS1- Undef
    VUS3- Undef
    CF 2672heterozygotevarying clinical consequence - Trans
    CF 3131heterozygoteCF-causing- Undef
    CF-causing- Undef
    CF 374heterozygoteCF-causing - Trans
    CF 4867heterozygoteCF-causing- Undef
    CF 1042heterozygoteCF-causing - Trans
    CF-causing- Undef
    CF 4831heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    CF 2968homozygotec.1210-34_1210-6TG[12]T[5] - Trans
    c.3310G>T - p.(Glu1104*) - Trans
    CF 1537homozygotec.1210-34_1210-6TG[12]T[5] - Trans
    c.2930C>T - p.(Ser977Phe) - Trans
    CRS-NP 5537heterozygotevarying clinical consequence- Undef
    CRS-NP 5531heterozygoteVUS3 - Cis
    CF-causing - Trans
    CRS-NP 3126heterozygoteVUS3 - Trans
    CRS-NP 4319heterozygoteCF-causing - Trans
    Fetal bowel anomalies 4316heterozygoteCF-causing - Trans


    Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing



                CFTR variants are clustered into five groups:
    • CF-causing: when in trans with another CF-causing mutation, will result in CF.
    • CFTR-RD causing: when in trans with a CF-causing mutation, will result in CFTR-related disorders (CFTR-RD) such as chronic pancreatitis, bronchiectasis, CRS-NP (chronic rhinosinusitis with or without nasal polyposis) or CBAVD (congenital absence of vas deferens), according to Bombieri C et al., 2011.
    • Varying clinical consequence: when in trans with another CF-causing mutation, can either result in CF or in a CFTR-RD.
    • Non disease-causing: when in trans with a CF-causing mutation, will not cause CF, nor CFTR-RD.
    • VUS (Variant of unknown clinical significance): unclassified because of insufficient data.



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