Variant NM_000492.4:c.1210-34_1210-6TG[11]T[7]


Variant details:
Name NM_000492.4:c.1210-34_1210-6TG[11]T[7]
#Exon/intron intron 9
Legacy Name TG11T7
Class non disease-causing







External sources:

Not found
Not found		dbSNP
no rs
Not found
Not found







No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 465
Asymptomatic compound heterozygote 30
CF 112
CFTR-RD289
  • Aquagenic palmoplantar keratoderma  4
  • Bronchiectasis  35
  • CBAVD  148
  • CRS-NP  12
  • Other  34
  • Pancreatitis  56
Fetal bowel anomalies 1
Pending 9
Pending (NBS) 23
Pending non-CF 1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 1541heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1585heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1684heterozygoteCF-causing - Trans
CF-causing- Undef
CF 1815heterozygoteCF-causing- Undef
VUS1- Undef
CF 1581heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1577heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1543heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1550heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1551heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1558heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1560heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1561heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1567heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1569heterozygoteVUS2 - Cis
CF 1570heterozygotevarying clinical consequence - Cis
CF-causing - Trans
CF 1540heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1170heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1279heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1297heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1298heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1300heterozygoteCF-causing- Undef
CF 1304heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1309heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1310heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1311heterozygotevarying clinical consequence - Cis
CF-causing - Trans
CF 1273heterozygotevarying clinical consequence - Cis
CF-causing - Trans
CF 1226heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1228heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1235heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1254heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1258heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1259heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1313heterozygoteVUS4- Undef
CF 1315heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1515heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1520heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1526heterozygoteCF-causing - Cis
CF-causing - Trans
CF 4872heterozygoteCF-causing - Trans
CF-causing- Undef
CF 4859heterozygoteCF-causing - Cis
CF-causing - Trans
CF 4853heterozygoteCF-causing - Cis
CF-causing - Trans
CF 4867heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CF 4869heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4862heterozygoteCF-causing - Trans
varying clinical consequence- Undef
CF 4864heterozygoteCF-causing - Trans
varying clinical consequence- Undef
CF 4855heterozygoteCF-causing - Trans
VUS3- Undef
CF 4854heterozygoteCF-causing - Cis
CF-causing - Trans
CF 4418heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CFTR-RD-causing - Trans
VUS3- Undef
CF 4596heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4585heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4580heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4538heterozygoteCF-causing - Cis
VUS3 - Trans
CF-causing - Trans
CF 4557heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4560heterozygoteCF-causing- Undef
VUS4- Undef
CF 4942heterozygoteVUS3 - Trans
VUS1 - Trans
CF 3119heterozygoteCF-causing - Cis
CF-causing - Trans
VUS1 - Trans
CF 4765heterozygoteVUS3- Undef
varying clinical consequence- Undef
CF-causing- Undef
CF 5168heterozygoteCF-causing- Undef
VUS3- Undef
CF-causing- Undef
VUS3- Undef
CF 3282heterozygoteCF-causing- Undef
CF-causing- Undef
CF 651heterozygoteCF-causing- Undef
CF-causing- Undef
CF 652heterozygoteCF-causing- Undef
CF-causing- Undef
CF 666heterozygoteCF-causing- Undef
CF-causing- Undef
VUS3- Undef
CF 668heterozygoteCF-causing- Undef
CF-causing- Undef
CF 672heterozygoteCF-causing- Undef
CF-causing- Undef
CF 738heterozygoteCF-causing- Undef
CF-causing- Undef
CF 744heterozygoteVUS3- Undef
CF 761heterozygoteCF-causing - Cis
CF-causing - Trans
CF 762heterozygoteCF-causing- Undef
CF-causing- Undef
CF 681heterozygoteCF-causing- Undef
CF-causing- Undef
CF 686heterozygoteVUS3 - Trans
CF 688heterozygoteCF-causing - Cis
CF-causing - Trans
CF 696heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CF-causing- Undef
CF 703heterozygoteCF-causing- Undef
CF-causing- Undef
CF 711heterozygoteCF-causing- Undef
CF-causing- Undef
CF 733heterozygoteCF-causing- Undef
VUS3- Undef
CF 466heterozygoteCF-causing- Undef
CF-causing- Undef
VUS1- Undef
CF 12heterozygoteCF-causing - Cis
CF-causing - Trans
CF 152heterozygoteCF-causing- Undef
CF-causing- Undef
CF 206heterozygoteCF-causing- Undef
CF 4697heterozygoteCF-causing- Undef
CF-causing- Undef
CF 294heterozygoteVUS1- Undef
CFTR-RD-causing- Undef
CF 313heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
varying clinical consequence- Undef
CF 357heterozygoteCF-causing - Cis
CF-causing - Trans
CF 360heterozygoteCF-causing - Cis
CF-causing - Trans
CF 5143heterozygoteCF-causing- Undef
CF-causing- Undef
CF 947heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 5256heterozygoteVUS3- Undef
VUS2- Undef
CF-causing- Undef
CF 1556heterozygoteCF-causing - Cis
CF-causing - Trans
CF 4780heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1101heterozygoteCF-causing - Cis
CF-causing - Trans
VUS3- Undef
CF 1138heterozygoteCF-causing- Undef
CF-causing- Undef
CF 889heterozygoteCF-causing - Cis
CF-causing - Trans
CF 884heterozygoteCF-causing- Undef
CF-causing- Undef
CF 816heterozygoteCF-causing- Undef
CF-causing- Undef
CF 829heterozygoteCF-causing- Undef
varying clinical consequence- Undef
VUS3- Undef
CF 926heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 913heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 924heterozygoteCF-causing - Cis
CF-causing - Trans
CF 929heterozygoteCF-causing - Cis
CF-causing - Trans
CF 787heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1174homozygotec.3883del - p.(Ile1295Phefs*33) - Trans
CF 1261homozygotec.3310G>T - p.(Glu1104*) - Trans
CF 1230homozygotec.1000C>T - p.(Arg334Trp) - Trans
CF 1246homozygotec.3310G>T - p.(Glu1104*) - Trans
CF 804homozygotec.1000C>T - p.(Arg334Trp) - Trans
c.1040G>C - p.(Arg347Pro) - Trans
CF 4739homozygotec.3873+1G>A - p.(=) - Trans
c.3889dup - p.(Ser1297Phefs*5) - Trans
CF 1251homozygotec.328G>C - p.(Asp110His) - Trans
c.54-5811_164+2186delins182 - p.? - Trans
CF 976homozygotec.1766+5G>A - p.(=) - Trans
c.579+1G>T - p.(=) - Trans
CF 977homozygotec.680T>G - p.(Leu227Arg) - Trans
CF 330homozygotec.2988+1G>A - p.(=) - Trans
c.454A>G - p.(Met152Val) - Trans
CF 718homozygotec.1673T>C - p.(Leu558Ser) - Trans
c.579+1G>T - p.(=) - Trans
CF 886homozygotec.3310G>T - p.(Glu1104*) - Trans
c.579+1G>T - p.(=) - Trans
CF 692homozygotec.4168C>T - p.(Gln1390*) - Trans
CBAVD 4971heterozygoteCF-causing - Cis
CF-causing - Trans
varying clinical consequence- Undef
CBAVD 4994heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 5035heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 2347heterozygoteCFTR-RD-causing - Trans
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 2365heterozygoteCFTR-RD-causing - Trans
varying clinical consequence- Undef
CBAVD 2404heterozygoteVUS3 - Trans
CBAVD 2138heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 1301heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 1308heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 1272heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 1269heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 1243heterozygoteVUS2- Undef
VUS4- Undef
VUS2- Undef
CBAVD 1244heterozygoteCF-causing- Undef
VUS5- Undef
CBAVD 1256heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
VUS1- Undef
CBAVD 1263heterozygotevarying clinical consequence - Cis
CF-causing - Trans
CBAVD 1314heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 1370heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 1410heterozygotevarying clinical consequence - Trans
CF-causing- Undef
CBAVD 1422heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 1474heterozygoteCFTR-RD-causing - Trans
varying clinical consequence- Undef
CBAVD 1486heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 1521heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 1352heterozygotevarying clinical consequence - Trans
CBAVD 1319heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 5768heterozygoteCF-causing- Undef
VUS3- Undef
CBAVD 4309heterozygoteCF-causing- Undef
VUS4- Undef
CBAVD 4536heterozygoteCF-causing- Undef
CBAVD 4589heterozygoteCFTR-RD-causing- Undef
CBAVD 4595heterozygoteCFTR-RD-causing - Trans
varying clinical consequence- Undef
CBAVD 4598heterozygoteCF-causing- Undef
VUS1- Undef
VUS2- Undef
CBAVD 4599heterozygoteCFTR-RD-causing - Cis
varying clinical consequence - Trans
CFTR-RD-causing - Trans
CBAVD 4562heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 4566heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4932heterozygoteCF-causing - Cis
varying clinical consequence - Trans
VUS1- Undef
CBAVD 2776heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 2790heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 4646heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 4753heterozygoteCF-causing - Trans
CFTR-RD-causing- Undef
CBAVD 4896heterozygoteCFTR-RD-causing- Undef
CBAVD 4875heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 2582heterozygotevarying clinical consequence - Trans
CFTR-RD-causing- Undef
VUS4- Undef
CBAVD 2437heterozygoteVUS3 - Trans
CF-causing- Undef
CBAVD 4750heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5593heterozygoteCFTR-RD-causing - Trans
varying clinical consequence- Undef
CBAVD 3332heterozygotevarying clinical consequence - Cis
varying clinical consequence - Trans
VUS1 - Trans
CBAVD 3303heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 3318heterozygoteCFTR-RD-causing - Cis
VUS3 - Trans
VUS1 - Trans
CBAVD 3326heterozygoteCFTR-RD-causing - Trans
CBAVD 5172heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 478heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 640heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 650heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 656heterozygotevarying clinical consequence - Trans
CF-causing- Undef
CBAVD 659heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
VUS3- Undef
CBAVD 664heterozygote
CBAVD 615heterozygote
CBAVD 580heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 557heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 479heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 503heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 504heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 511heterozygoteVUS4 - Cis
CFTR-RD-causing - Trans
CFTR-RD-causing - Trans
CFTR-RD-causing - Trans
CBAVD 518heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 523heterozygoteVUS4- Undef
varying clinical consequence- Undef
CBAVD 526heterozygoteVUS3- Undef
CBAVD 527heterozygotevarying clinical consequence- Undef
CBAVD 529heterozygoteVUS3 - Trans
CF-causing- Undef
VUS4- Undef
CBAVD 538heterozygoteCFTR-RD-causing - Cis
CFTR-RD-causing - Trans
CFTR-RD-causing - Trans
CBAVD 676heterozygoteVUS3 - Trans
CBAVD 751heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 737heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 736heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 690heterozygote
CBAVD 531heterozygoteCFTR-RD-causing - Trans
CBAVD 722heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 781heterozygoteVUS3 - Trans
CBAVD 4669heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 4956heterozygotevarying clinical consequence - Trans
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5072heterozygoteCF-causing- Undef
VUS3- Undef
CBAVD 4740heterozygoteCF-causing- Undef
VUS1- Undef
CBAVD 4735heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
varying clinical consequence- Undef
CBAVD 4682heterozygoteCF-causing - Trans
VUS1- Undef
CFTR-RD-causing- Undef
CBAVD 4707heterozygotevarying clinical consequence - Trans
CF-causing- Undef
CBAVD 4710heterozygoteCFTR-RD-causing- Undef
VUS3- Undef
CF-causing- Undef
CBAVD 424heterozygoteVUS3 - Trans
CF-causing- Undef
CBAVD 427heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 431heterozygote
CBAVD 437heterozygotevarying clinical consequence - Cis
CF-causing - Trans
CBAVD 439heterozygoteVUS3 - Cis
CF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 445heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 448heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 451heterozygoteVUS5 - Cis
CF-causing - Trans
VUS1 - Trans
CBAVD 453heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 455heterozygoteCFTR-RD-causing- Undef
CBAVD 423heterozygoteVUS3- Undef
CBAVD 419heterozygoteVUS3- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 418heterozygoteCFTR-RD-causing - Trans
varying clinical consequence- Undef
CBAVD 389heterozygoteVUS3 - Trans
VUS1- Undef
CBAVD 401heterozygoteCF-causing- Undef
CBAVD 403heterozygoteVUS1- Undef
CFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 405heterozygoteCFTR-RD-causing - Trans
CBAVD 461heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5134heterozygoteVUS3- Undef
CF-causing- Undef
CBAVD 5127heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 4830heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 938heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 941heterozygoteVUS4- Undef
CF-causing- Undef
CBAVD 5228heterozygoteCFTR-RD-causing - Trans
VUS3- Undef
CBAVD 5521heterozygotevarying clinical consequence - Trans
varying clinical consequence- Undef
CBAVD 818heterozygote
CBAVD 892heterozygoteCFTR-RD-causing- Undef
varying clinical consequence- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 895heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 897heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 868heterozygoteCF-causing- Undef
VUS4- Undef
CBAVD 805heterozygoteVUS1- Undef
CBAVD 876heterozygoteCF-causing- Undef
VUS4- Undef
CBAVD 812heterozygoteVUS5- Undef
CF-causing- Undef
CBAVD 810heterozygoteVUS2- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 858heterozygote
CBAVD 806heterozygoteVUS3 - Trans
CBAVD 875heterozygoteCF-causing- Undef
VUS4- Undef
CBAVD 927heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
VUS4- Undef
CBAVD 931heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 4534homozygotec.1327G>T - p.(Asp443Tyr) - Trans
c.1624G>T - p.(Gly542*) - Trans
c.1727G>C - p.(Gly576Ala) - Trans
c.2002C>T - p.(Arg668Cys) - Trans
CBAVD 4696homozygotec.3454G>C - p.(Asp1152His) - Trans
c.948del - p.(Phe316Leufs*12) - Trans
CBAVD 1025homozygotec.2936A>C - p.(Asp979Ala) - Trans
CBAVD 1242homozygotec.579+3A>G - p.(=) - Trans
CBAVD 791homozygotec.3935A>G - p.(Asp1312Gly) - Trans
CBAVD 4724homozygotec.350G>A - p.(Arg117His) - Trans
c.4200_4201del - p.(Cys1400*) - Trans
CBAVD 5223homozygotec.1521_1523del - p.(Phe508del) - Trans
c.220C>T - p.(Arg74Trp) - Trans
c.3808G>A - p.(Asp1270Asn) - Trans
c.601G>A - p.(Val201Met) - Trans
CBAVD 612homozygotec.3454G>C - p.(Asp1152His) - Trans
c.366T>A - p.(Tyr122*) - Trans
CBAVD 660homozygotec.220C>T - p.(Arg74Trp) - Trans
c.3808G>A - p.(Asp1270Asn) - Trans
c.601G>A - p.(Val201Met) - Trans
CBAVD 507homozygotec.220C>T - p.(Arg74Trp) - Trans
c.3808G>A - p.(Asp1270Asn) - Trans
c.601G>A - p.(Val201Met) - Trans
CBAVD 510homozygotec.2991G>C - p.(Leu997Phe) - Trans
CBAVD 521homozygote
CBAVD 697homozygotec.220C>T - p.(Arg74Trp) - Trans
c.3454G>C - p.(Asp1152His) - Trans
c.3808G>A - p.(Asp1270Asn) - Trans
c.601G>A - p.(Val201Met) - Trans
CBAVD 536homozygote
CBAVD 543homozygotec.220C>T - p.(Arg74Trp) - Trans
c.3196C>T - p.(Arg1066Cys) - Trans
c.3808G>A - p.(Asp1270Asn) - Trans
c.601G>A - p.(Val201Met) - Trans
CBAVD 546homozygotec.1545_1546del - p.(Tyr515*) - Trans
c.349C>T - p.(Arg117Cys) - Trans
CBAVD 5809homozygotec.2758G>A - p.(Val920Met) - Trans
c.870-1101T>C - p.(?) - Trans
CBAVD 441homozygotec.1523T>G - p.(Phe508Cys) - Trans
c.1631G>T - p.(Gly544Val) - Trans
CBAVD 1294homozygotec.220C>T - p.(Arg74Trp) - Trans
c.2991G>C - p.(Leu997Phe) - Trans
c.3808G>A - p.(Asp1270Asn) - Trans
c.601G>A - p.(Val201Met) - Trans
CBAVD 823homozygote
CBAVD 5519homozygotec.1517T>C - p.(Ile506Thr) - Trans
c.220C>T - p.(Arg74Trp) - Trans
c.3808G>A - p.(Asp1270Asn) - Trans
c.601G>A - p.(Val201Met) - Trans
CBAVD 707homozygotec.2991G>C - p.(Leu997Phe) - Trans
CBAVD 406homozygote
CBAVD 417homozygotec.1040G>A - p.(Arg347His) - Trans
c.3276C>A - p.(Tyr1092*) - Trans
CBAVD 550homozygotec.3083T>G - p.(Met1028Arg) - Trans
c.3889dup - p.(Ser1297Phefs*5) - Trans
Pancreatitis 1650heterozygoteCFTR-RD-causing - Trans
CFTR-RD-causing- Undef
Pancreatitis 1716heterozygoteCFTR-RD-causing - Trans
VUS2- Undef
Pancreatitis 1725heterozygoteCFTR-RD-causing - Trans
varying clinical consequence- Undef
Pancreatitis 1920heterozygoteVUS3 - Trans
Pancreatitis 2110heterozygotevarying clinical consequence - Cis
CFTR-RD-causing - Trans
Pancreatitis 2324heterozygoteVUS3 - Trans
Pancreatitis 2326heterozygoteVUS3 - Trans
Pancreatitis 2370heterozygoteCFTR-RD-causing - Trans
Pancreatitis 2372heterozygoteCFTR-RD-causing - Trans
Pancreatitis 2389heterozygoteVUS3 - Trans
Pancreatitis 2312heterozygoteVUS3 - Trans
Pancreatitis 2306heterozygoteVUS3 - Trans
Pancreatitis 2162heterozygoteVUS3 - Trans
VUS1- Undef
Pancreatitis 2198heterozygoteCFTR-RD-causing - Trans
CFTR-RD-causing- Undef
Pancreatitis 1524heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Pancreatitis 5623heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Pancreatitis 4250heterozygoteVUS3 - Trans
Pancreatitis 5621heterozygoteCFTR-RD-causing- Undef
Pancreatitis 5619heterozygoteVUS3- Undef
Pancreatitis 5363heterozygoteCF-causing- Undef
Pancreatitis 5329heterozygoteVUS4- Undef
varying clinical consequence- Undef
Pancreatitis 5340heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
VUS3- Undef
Pancreatitis 5605heterozygoteVUS2- Undef
Pancreatitis 5608heterozygoteVUS3- Undef
Pancreatitis 5614heterozygoteVUS3- Undef
Pancreatitis 4559heterozygoteCF-causing- Undef
VUS3- Undef
Pancreatitis 4614heterozygotevarying clinical consequence- Undef
varying clinical consequence- Undef
Pancreatitis 2432heterozygoteVUS3 - Trans
Pancreatitis 3023heterozygoteVUS3 - Trans
Pancreatitis 3044heterozygoteVUS3 - Trans
Pancreatitis 2488heterozygoteVUS3 - Trans
Pancreatitis 2529heterozygoteCFTR-RD-causing - Trans
Pancreatitis 2530heterozygoteCFTR-RD-causing - Trans
Pancreatitis 2538heterozygoteCFTR-RD-causing - Trans
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Pancreatitis 3060heterozygoteCFTR-RD-causing - Trans
VUS3- Undef
Pancreatitis 3061heterozygoteVUS3 - Trans
Pancreatitis 5007heterozygoteVUS3- Undef
CF-causing- Undef
Pancreatitis 3399heterozygoteVUS1- Undef
Pancreatitis 5010heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Pancreatitis 5974heterozygoteVUS3- Undef
Pancreatitis 4659heterozygoteVUS3- Undef
Pancreatitis 4636heterozygoteVUS3 - Cis
CF-causing - Trans
Pancreatitis 4639heterozygoteVUS3 - Trans
VUS3- Undef
Pancreatitis 4642heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pancreatitis 648heterozygoteVUS5- Undef
CF-causing- Undef
Pancreatitis 5080heterozygoteVUS3- Undef
VUS3- Undef
Pancreatitis 4692heterozygotevarying clinical consequence- Undef
CFTR-RD-causing- Undef
Pancreatitis 4708heterozygoteVUS3- Undef
VUS3- Undef
Pancreatitis 1168heterozygoteVUS4- Undef
Pancreatitis 4565homozygotec.579+1G>T - p.(=) - Trans
Pancreatitis 5003homozygotec.1367T>C - p.(Val456Ala) - Trans
Pancreatitis 4766homozygotec.2695A>G - p.(Arg899Gly) - Trans
Pancreatitis 4618homozygotec.221G>A - p.(Arg74Gln) - Trans
c.890G>A - p.(Arg297Gln) - Trans
Pancreatitis 5620homozygotec.220C>T - p.(Arg74Trp) - Trans
c.3808G>A - p.(Asp1270Asn) - Trans
c.601G>A - p.(Val201Met) - Trans
Pancreatitis 5617homozygotec.1429C>T - p.(Pro477Ser) - Trans
Pancreatitis 964homozygotec.2991G>C - p.(Leu997Phe) - Trans
c.91C>T - p.(Arg31Cys) - Trans
Pending (NBS) 1580heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Pending (NBS) 1566heterozygotevarying clinical consequence - Cis
CF-causing - Trans
Pending (NBS) 1522heterozygoteVUS5 - Cis
CF-causing - Trans
Pending (NBS) 4852heterozygoteVUS3 - Cis
CF-causing - Trans
Pending (NBS) 1530heterozygoteVUS4 - Cis
CF-causing - Trans
Pending (NBS) 5310heterozygoteCF-causing- Undef
VUS4- Undef
VUS3- Undef
Pending (NBS) 5769heterozygoteCF-causing- Undef
varying clinical consequence- Undef
VUS3- Undef
Pending (NBS) 3648heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Pending (NBS) 5615heterozygoteCF-causing - Cis
CF-causing - Trans
Pending (NBS) 4593heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 4555heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 4569heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Pending (NBS) 5313heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 4745heterozygoteCFTR-RD-causing- Undef
varying clinical consequence- Undef
CF-causing- Undef
Pending (NBS) 769heterozygoteCFTR-RD-causing - Cis
CFTR-RD-causing - Trans
Pending (NBS) 775heterozygoteCF-causing- Undef
Pending (NBS) 734heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Pending (NBS) 4693heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 5089heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Pending (NBS) 991heterozygoteCFTR-RD-causing- Undef
varying clinical consequence- Undef
CFTR-RD-causing- Undef
Pending (NBS) 5803heterozygotevarying clinical consequence - Cis
VUS3 - Cis
CF-causing - Trans
Pending (NBS) 803heterozygoteVUS2- Undef
CF-causing- Undef
Pending (NBS) 5071homozygotec.-288G>C - p.(=) - Trans
c.2657+5G>A - p.(=) - Trans
c.3139+89T>C - p.(=) - Trans
Other 4705heterozygoteCF-causing- Undef
CF-causing- Undef
Other 4714heterozygoteCF-causing - Trans
Other 4731heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
Other 4846heterozygoteCF-causing - Trans
CFTR-RD-causing- Undef
Other 4836heterozygoteVUS3 - Cis
CF-causing - Trans
Other 4844heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Other 5082heterozygoteCF-causing - Cis
VUS3 - Trans
Other 757heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Other 789heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Other 845heterozygoteCF-causing- Undef
Other 935heterozygoteCFTR-RD-causing- Undef
Other 5087heterozygoteVUS3 - Trans
VUS3- Undef
Other 5243heterozygoteVUS3- Undef
VUS3- Undef
VUS1- Undef
Other 5225heterozygoteVUS3 - Cis
CFTR-RD-causing - Trans
Other 5813heterozygoteCFTR-RD-causing- Undef
varying clinical consequence- Undef
Other 1305heterozygoteCF-causing- Undef
VUS1- Undef
Other 2474heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
Other 4664heterozygoteCF-causing - Trans
CFTR-RD-causing- Undef
Other 5163heterozygoteCF-causing- Undef
VUS3- Undef
Other 4561heterozygoteCF-causing- Undef
VUS4- Undef
Other 4568heterozygoteCFTR-RD-causing - Trans
VUS3- Undef
Other 4572heterozygoteVUS2- Undef
Other 4582heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Other 4587heterozygoteCFTR-RD-causing- Undef
Other 4600heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Other 4702homozygotec.1521_1523del - p.(Phe508del) - Trans
c.220C>T - p.(Arg74Trp) - Trans
c.3808G>A - p.(Asp1270Asn) - Trans
c.601G>A - p.(Val201Met) - Trans
Other 4842homozygotec.2335C>A - p.(Gln779Lys) - Trans
c.2991G>C - p.(Leu997Phe) - Trans
Other 5075homozygotec.220C>T - p.(Arg74Trp) - Trans
c.3808G>A - p.(Asp1270Asn) - Trans
c.579+1G>T - p.(=) - Trans
c.601G>A - p.(Val201Met) - Trans
Other 5814homozygotec.1327G>T - p.(Asp443Tyr) - Trans
c.1521_1523del - p.(Phe508del) - Trans
c.1727G>C - p.(Gly576Ala) - Trans
c.2002C>T - p.(Arg668Cys) - Trans
Other 1017homozygotec.2834C>T - p.(Ser945Leu) - Trans
c.3874-1G>A - p.(=) - Trans
Other 1158homozygotec.3276C>A - p.(Tyr1092*) - Trans
c.350G>A - p.(Arg117His) - Trans
Other 4530homozygotec.1054C>T - p.(Arg352Trp) - Trans
c.3038C>A - p.(Pro1013His) - Trans
Other 4537homozygotec.580-62T>G - p.(=) - Trans
Other 4542homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3454G>C - p.(Asp1152His) - Trans
CRS-NP 349heterozygoteCF-causing - Cis
VUS1 - Trans
VUS1- Undef
CRS-NP 910heterozygoteCF-causing- Undef
CRS-NP 5138heterozygoteCFTR-RD-causing- Undef
VUS3- Undef
CRS-NP 5537heterozygoteCFTR-RD-causing - Trans
varying clinical consequence- Undef
CRS-NP 1239heterozygoteCF-causing- Undef
CRS-NP 3284heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CRS-NP 5338heterozygoteCFTR-RD-causing- Undef
VUS3- Undef
CRS-NP 4276heterozygoteVUS3 - Trans
CRS-NP 4733homozygotec.1418del - p.(Gly473Glufs*54) - Trans
c.3454G>C - p.(Asp1152His) - Trans
CRS-NP 4841homozygotec.1657C>T - p.(Arg553*) - Trans
c.3140-26A>G - p.(=) - Trans
CRS-NP 5130homozygotec.14C>T - p.(Pro5Leu) - Trans
c.2735C>T - p.(Ser912Leu) - Trans
CRS-NP 4768homozygotec.1040G>C - p.(Arg347Pro) - Trans
c.3276C>A - p.(Tyr1092*) - Trans
Asymptomatic compound heterozygote 5073heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Asymptomatic compound heterozygote 739heterozygoteCFTR-RD-causing - Cis
CFTR-RD-causing - Trans
Asymptomatic compound heterozygote 922heterozygoteVUS4- Undef
Asymptomatic compound heterozygote 4959heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Asymptomatic compound heterozygote 5139heterozygoteCFTR-RD-causing - Trans
Asymptomatic compound heterozygote 5222heterozygoteVUS3- Undef
CFTR-RD-causing- Undef
Asymptomatic compound heterozygote 5255heterozygoteVUS3 - Trans
VUS2- Undef
Asymptomatic compound heterozygote 5535heterozygoteCFTR-RD-causing - Trans
VUS3- Undef
Asymptomatic compound heterozygote 5528heterozygoteVUS3- Undef
VUS1- Undef
Asymptomatic compound heterozygote 5527heterozygoteCFTR-RD-causing - Trans
VUS3- Undef
Asymptomatic compound heterozygote 5815heterozygoteCFTR-RD-causing- Undef
Asymptomatic compound heterozygote 5851heterozygoteVUS3- Undef
VUS1- Undef
Asymptomatic compound heterozygote 1574heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Asymptomatic compound heterozygote 2214heterozygoteVUS3 - Trans
CFTR-RD-causing- Undef
CF-causing- Undef
Asymptomatic compound heterozygote 2279heterozygotevarying clinical consequence - Cis
VUS3 - Trans
Asymptomatic compound heterozygote 3012heterozygoteVUS1 - Cis
CFTR-RD-causing - Trans
varying clinical consequence - Trans
Asymptomatic compound heterozygote 4637heterozygoteVUS3 - Cis
CFTR-RD-causing - Trans
Asymptomatic compound heterozygote 4641heterozygoteCF-causing - Trans
VUS1- Undef
Asymptomatic compound heterozygote 4656heterozygoteVUS3- Undef
VUS2- Undef
VUS3- Undef
VUS3- Undef
Asymptomatic compound heterozygote 3333heterozygotevarying clinical consequence - Cis
varying clinical consequence - Trans
VUS1 - Trans
Asymptomatic compound heterozygote 5599heterozygoteVUS1 - Cis
CF-causing - Trans
Asymptomatic compound heterozygote 5602heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
VUS3- Undef
Asymptomatic compound heterozygote 4259heterozygoteVUS3- Undef
CFTR-RD-causing- Undef
Asymptomatic compound heterozygote 4303heterozygoteVUS2- Undef
CFTR-RD-causing- Undef
Asymptomatic compound heterozygote 4737homozygotec.1767-58G>C - p.(=) - Trans
c.3935A>G - p.(Asp1312Gly) - Trans
c.869+88T>A - p.(=) - Trans
Asymptomatic compound heterozygote 4843homozygotec.2173G>A - p.(Glu725Lys) - Trans
c.2249C>T - p.(Pro750Leu) - Trans
Asymptomatic compound heterozygote 5144homozygotec.1585-9449C>A - p.(=) - Trans
c.3469-1374A>C - p.(=) - Trans
Asymptomatic compound heterozygote 5133homozygotec.2421A>G - p.(Ile807Met) - Trans
c.3285A>T - p.(=) - Trans
Asymptomatic compound heterozygote 5131homozygotec.-330T>G - p.(=) - Trans
c.2909-36T>G - p.(=) - Trans
Asymptomatic compound heterozygote 4579homozygotec.3868C>A - p.(Pro1290Thr) - Trans
c.91C>T - p.(Arg31Cys) - Trans
Pending 243heterozygoteCFTR-RD-causing- Undef
Pending 907heterozygoteCF-causing- Undef
VUS3- Undef
Pending 5804heterozygotevarying clinical consequence - Cis
VUS3 - Cis
VUS3 - Trans
VUS1 - Trans
Pending 1097heterozygoteVUS4 - Cis
varying clinical consequence - Trans
Pending 2228heterozygoteVUS3 - Trans
CF-causing- Undef
Pending 4746heterozygoteCFTR-RD-causing- Undef
varying clinical consequence- Undef
CF-causing- Undef
Pending 5008heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Pending 4819homozygotec.220C>T - p.(Arg74Trp) - Trans
c.3528del - p.(Lys1177Serfs*15) - Trans
c.3808G>A - p.(Asp1270Asn) - Trans
Pending 1240homozygotec.2991G>C - p.(Leu997Phe) - Trans
Bronchiectasis 4834heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Bronchiectasis 5076heterozygoteVUS4- Undef
VUS3- Undef
Bronchiectasis 899heterozygoteCF-causing- Undef
Bronchiectasis 914heterozygoteCFTR-RD-causing - Trans
Bronchiectasis 921heterozygoteVUS3 - Cis
CF-causing - Trans
Bronchiectasis 950heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Bronchiectasis 966heterozygoteVUS4- Undef
VUS4- Undef
Bronchiectasis 5137heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Bronchiectasis 5530heterozygoteVUS3 - Trans
CFTR-RD-causing- Undef
Bronchiectasis 4848heterozygotevarying clinical consequence - Cis
CF-causing - Trans
Bronchiectasis 4863heterozygoteCF-causing - Trans
varying clinical consequence- Undef
Bronchiectasis 5034heterozygoteVUS3- Undef
CF-causing- Undef
Bronchiectasis 1947heterozygoteVUS3 - Trans
VUS3- Undef
Bronchiectasis 2140heterozygoteVUS3 - Trans
Bronchiectasis 2217heterozygoteVUS3 - Trans
VUS1- Undef
Bronchiectasis 2289heterozygoteVUS3 - Trans
Bronchiectasis 2291heterozygoteVUS3 - Trans
Bronchiectasis 2298heterozygoteVUS3 - Trans
Bronchiectasis 2315heterozygoteCFTR-RD-causing - Trans
Bronchiectasis 2330heterozygoteVUS3 - Trans
Bronchiectasis 2412heterozygoteCFTR-RD-causing - Trans
Bronchiectasis 2413heterozygoteCFTR-RD-causing - Trans
Bronchiectasis 2446heterozygoteVUS3 - Trans
CF-causing- Undef
Bronchiectasis 2455heterozygoteCFTR-RD-causing - Trans
CFTR-RD-causing- Undef
Bronchiectasis 2491heterozygoteCFTR-RD-causing - Trans
Bronchiectasis 2533heterozygoteCFTR-RD-causing - Trans
Bronchiectasis 2574heterozygoteVUS3 - Trans
Bronchiectasis 3038heterozygoteVUS3 - Trans
Bronchiectasis 5618heterozygoteVUS3- Undef
Bronchiectasis 4811heterozygoteCF-causing- Undef
Bronchiectasis 4816heterozygoteVUS1- Undef
Bronchiectasis 4607heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Bronchiectasis 4608heterozygoteVUS5- Undef
CF-causing- Undef
Bronchiectasis 4613heterozygoteCFTR-RD-causing- Undef
Bronchiectasis 3261homozygotec.1583A>C - p.(Glu528Ala) - Trans
Pending non-CF 753heterozygoteCF-causing- Undef
VUS3- Undef
Aquagenic palmoplantar keratoderma 5365heterozygoteVUS3- Undef
VUS3- Undef
varying clinical consequence- Undef
Aquagenic palmoplantar keratoderma 5822heterozygoteVUS3- Undef
VUS1- Undef
Aquagenic palmoplantar keratoderma 5302heterozygoteVUS3 - Trans
CFTR-RD-causing- Undef
Aquagenic palmoplantar keratoderma 5613heterozygoteVUS5- Undef
Fetal bowel anomalies 2397heterozygotevarying clinical consequence - Cis
VUS1 - Cis
VUS3 - 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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