Variant NM_000492.4:c.744-33GATT[7]


Variant details:
Name NM_000492.4:c.744-33GATT[7]
#Exon/intron intron 6
Legacy Name TTGA repeats
Class non disease-causing







External sources:

Not found		dbSNP
no rs
Not found
Not found







No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 519
Asymptomatic compound heterozygote 7
CF 227
CFTR-RD255
  • Aquagenic palmoplantar keratoderma  1
  • Bronchiectasis  21
  • CBAVD  179
  • CRS-NP  5
  • Other  37
  • Pancreatitis  12
Fetal bowel anomalies 1
Pending 2
Pending (NBS) 26
Pending non-CF 1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 909heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 913heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 924heterozygoteCF-causing- Undef
CF-causing- Undef
CF 882heterozygoteVUS4- Undef
CF-causing- Undef
CF 884heterozygoteCF-causing- Undef
CF-causing- Undef
CF 889heterozygoteCF-causing- Undef
CF-causing- Undef
CF 926heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 998heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1004heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1008heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1010heterozygoteCF-causing - Cis
CF-causing - Trans
CF 5256heterozygoteVUS3- Undef
VUS2- Undef
CF-causing- Undef
CF 1228heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1232heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 975heterozygoteCF-causing- Undef
VUS4- Undef
CF 928heterozygoteCF-causing - Cis
CF-causing - Trans
CF 945heterozygoteCF-causing- Undef
CF-causing- Undef
CF 947heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 954heterozygoteCF-causing - Cis
CF-causing - Trans
CF 960heterozygoteCF-causing - Cis
CF-causing - Trans
CF 969heterozygoteCF-causing - Cis
CF-causing - Trans
CF 688heterozygoteCF-causing - Cis
CF-causing - Trans
CF 691heterozygoteCF-causing- Undef
CF-causing- Undef
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 714heterozygoteCF-causing - Cis
CF-causing - Trans
CF 686heterozygoteVUS3- Undef
CF 662heterozygotevarying clinical consequence - Cis
VUS2 - Trans
CF-causing - Trans
CF 663heterozygotevarying clinical consequence - Cis
VUS2 - Trans
CF-causing - Trans
CF 666heterozygoteCF-causing - Cis
VUS3 - Cis
CF-causing - Trans
CF 668heterozygoteCF-causing- Undef
CF-causing- Undef
CF 672heterozygoteCF-causing- Undef
CF-causing- Undef
CF 681heterozygoteCF-causing- Undef
CF-causing- Undef
CF 733heterozygoteCF-causing- Undef
VUS3- Undef
CF 773heterozygoteCF-causing - Cis
CF-causing - Trans
CF 787heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 808heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 829heterozygoteCF-causing- Undef
varying clinical consequence- Undef
VUS3- Undef
CF 762heterozygoteCF-causing- Undef
CF-causing- Undef
CF 761heterozygoteCF-causing- Undef
CF-causing- Undef
CF 738heterozygoteCF-causing- Undef
CF-causing- Undef
CF 744heterozygoteVUS3- Undef
CF 745heterozygoteCF-causing- Undef
CF-causing- Undef
CF 758heterozygoteCF-causing - Cis
CF-causing - Trans
CF 835heterozygoteCF-causing- Undef
CF-causing- Undef
CF 3674heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4439heterozygoteVUS5- Undef
CF-causing- Undef
CF 4629heterozygoteCF-causing- Undef
CF-causing- Undef
VUS1- Undef
CF 3275heterozygoteCF-causing- Undef
CF-causing- Undef
VUS3- Undef
CF 3282heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4553heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4596heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4585heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4560heterozygoteCF-causing- Undef
VUS4- Undef
CF 4580heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1311heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1313heterozygoteVUS4- Undef
CF 1315heterozygoteCF-causing - Cis
CF-causing - Trans
CF 4853heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4867heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CF 4869heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4862heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1310heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1309heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1258heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1266heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1273heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1278heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1297heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1300heterozygoteCF-causing- Undef
CF 4864heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 4858heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1558heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1560heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1562heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CF 1569heterozygoteVUS2- Undef
CF 1571heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CF 1577heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1585heterozygoteCF-causing- Undef
CF-causing- Undef
CF 2893heterozygoteCF-causing- Undef
CF-causing- Undef
VUS1- Undef
CF 1550heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1549heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CF-causing- Undef
CF 4855heterozygoteVUS3- Undef
CF-causing- Undef
CF 4856heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4854heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4859heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1527heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CF 1528heterozygote
CF 1539heterozygoteCF-causing- Undef
CF 1546heterozygoteCF-causing- Undef
CF 215heterozygoteCF-causing- Undef
VUS4- Undef
CF 281heterozygoteCF-causing - Cis
CF-causing - Trans
CF 283heterozygoteCF-causing- Undef
CF-causing- Undef
CF 304heterozygoteCF-causing- Undef
CF-causing- Undef
VUS1- Undef
CF 307heterozygoteCF-causing - Cis
CF-causing - Trans
CF 310heterozygoteCF-causing - Cis
CF-causing - Trans
CF 313heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
varying clinical consequence- Undef
CF 316heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 317heterozygoteCF-causing - Cis
CF-causing - Trans
CF 326heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CF 331heterozygoteCF-causing - Cis
CF-causing - Trans
CF 332heterozygoteCF-causing - Cis
CF-causing - Trans
CF 335heterozygoteCF-causing- Undef
CF-causing- Undef
CF 276heterozygoteCF-causing- Undef
CF-causing- Undef
CF 270heterozygoteCF-causing - Cis
CF-causing - Trans
CF 218heterozygoteCF-causing- Undef
CF-causing- Undef
CF 221heterozygoteCF-causing- Undef
CF-causing- Undef
CF 222heterozygoteCF-causing- Undef
CF-causing- Undef
CF 225heterozygoteCF-causing- Undef
VUS4- Undef
CF 227heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 232heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 234heterozygoteCF-causing- Undef
CF-causing- Undef
CF 236heterozygoteCF-causing- Undef
CF-causing- Undef
CF 237heterozygoteCF-causing - Cis
CF-causing - Trans
CF 249heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 251heterozygoteCF-causing- Undef
CF-causing- Undef
CF 265heterozygoteCF-causing- Undef
CF-causing- Undef
CF 338heterozygoteCF-causing- Undef
VUS5- Undef
CF 340heterozygoteVUS1- Undef
CF-causing- Undef
CF-causing- Undef
CF 341heterozygoteCF-causing- Undef
CF-causing- Undef
CF 380heterozygoteCF-causing- Undef
CF-causing- Undef
CF 381heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CF 382heterozygoteCF-causing- Undef
VUS3- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CF 383heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CF-causing- Undef
CF 384heterozygoteCF-causing- Undef
CF-causing- Undef
CF 386heterozygoteCF-causing - Cis
CF-causing - Trans
CF 392heterozygotevarying clinical consequence - Cis
VUS3 - Trans
CF-causing - Trans
CF 374heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CF 369heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 348heterozygoteCF-causing- Undef
CF-causing- Undef
CF 350heterozygoteCF-causing- Undef
CF-causing- Undef
CF 351heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 353heterozygoteCF-causing - Cis
CF-causing - Trans
CF 355heterozygoteCF-causing - Cis
CF-causing - Trans
CF 359heterozygoteCF-causing- Undef
CF-causing- Undef
VUS1- Undef
CF 361heterozygoteCF-causing- Undef
CF-causing- Undef
CF 363heterozygoteCF-causing- Undef
CF-causing- Undef
CF 212heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4665heterozygoteVUS3- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CF 4732heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CF 105heterozygoteCF-causing - Cis
CF-causing - Trans
CF 128heterozygotevarying clinical consequence - Cis
CF-causing - Trans
CF 137heterozygoteCF-causing - Cis
CF-causing - Trans
CF 139heterozygoteCF-causing- Undef
VUS4- Undef
CF 141heterozygoteCF-causing - Cis
CF-causing - Trans
CF 143heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4719heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 145heterozygoteCF-causing- Undef
CF-causing- Undef
CF 146heterozygoteCF-causing- Undef
CF-causing- Undef
CF 147heterozygoteCF-causing- Undef
CF-causing- Undef
CF 175heterozygoteCF-causing- Undef
CF-causing- Undef
CF 177heterozygoteCF-causing- Undef
CF-causing- Undef
CF 178heterozygoteCF-causing- Undef
CF-causing- Undef
VUS1- Undef
VUS1- Undef
CF 51heterozygoteCF-causing - Cis
CF-causing - Trans
CF 181heterozygoteCF-causing- Undef
CF-causing- Undef
CF 184heterozygoteCF-causing- Undef
CF-causing- Undef
CF 193heterozygoteCF-causing- Undef
CF-causing- Undef
CF 195heterozygoteCF-causing- Undef
VUS1- Undef
CF-causing- Undef
CF 200heterozygoteCF-causing- Undef
CF-causing- Undef
CF 206heterozygoteCF-causing- Undef
CF 173heterozygoteCF-causing- Undef
CF-causing- Undef
CF 169heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 148heterozygoteCF-causing - Cis
CF-causing - Trans
CF 152heterozygoteCF-causing- Undef
CF-causing- Undef
CF 153heterozygoteCF-causing- Undef
CF-causing- Undef
CF 154heterozygoteCF-causing - Cis
CF-causing - Trans
CF 158heterozygoteCF-causing- Undef
CF-causing- Undef
CF 159heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 160heterozygoteCF-causing- Undef
CF-causing- Undef
CF 161heterozygoteCF-causing- Undef
CF-causing- Undef
CF 165heterozygoteCF-causing - Cis
CF-causing - Trans
CF 166heterozygoteCF-causing- Undef
CF-causing- Undef
CF 167heterozygoteCF-causing- Undef
CF-causing- Undef
CF 168heterozygoteCF-causing- Undef
CF 207heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 596heterozygoteCF-causing- Undef
CF-causing- Undef
CF 586heterozygoteCF-causing- Undef
CF-causing- Undef
CF 597heterozygoteCF-causing- Undef
CF-causing- Undef
CF 616heterozygoteCF-causing - Cis
CF-causing - Trans
CF 600heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 559heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 561heterozygoteCF-causing- Undef
CF-causing- Undef
CF 567heterozygoteCF-causing- Undef
CF-causing- Undef
CF 576heterozygoteCF-causing- Undef
CF-causing- Undef
CF 652heterozygoteCF-causing- Undef
CF-causing- Undef
CF 651heterozygoteCF-causing- Undef
CF-causing- Undef
CF 623heterozygotevarying clinical consequence - Cis
CF-causing - Trans
CF 654heterozygoteCF-causing- Undef
CF-causing- Undef
CF 471heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 472heterozygoteCF-causing - Cis
CF-causing - Trans
CF 622heterozygotevarying clinical consequence - Cis
CF-causing - Trans
CF 179homozygotec.2583del - p.(Phe861Leufs*3) - Trans
CF 172homozygotec.254G>A - p.(Gly85Glu) - Trans
CF 730homozygotec.3131A>G - p.(Glu1044Gly) - Trans
CF 718homozygotec.1673T>C - p.(Leu558Ser) - Trans
c.579+1G>T - p.(=) - Trans
CF 142homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 692homozygotec.4168C>T - p.(Gln1390*) - Trans
CF 103homozygotec.2988+1G>A - p.(=) - Trans
c.3064_3117del - p.(Val1022_Gln1039del) - Trans
CF 102homozygotec.2988+1G>A - p.(=) - Trans
c.3746G>A - p.(Gly1249Glu) - Trans
CF 101homozygotec.2988+1G>A - p.(=) - Trans
CF 4541homozygotec.2215del - p.(Val739Tyrfs*16) - Trans
c.3160C>G - p.(His1054Asp) - Trans
CF 156homozygotec.2657+5G>A - p.(=) - Trans
c.2997_3000del - p.(Ile1000*) - Trans
CF 151homozygotec.1083del - p.(Trp361Cysfs*8) - Trans
c.1521_1523del - p.(Phe508del) - Trans
CF 149homozygotec.3964-3C>G - p.(=) - Trans
CF 680homozygotec.2051_2052delinsG - p.(Lys684Serfs*38) - Trans
c.3907A>C - p.(Asn1303His) - Trans
CF 977homozygotec.680T>G - p.(Leu227Arg) - Trans
CF 368homozygotec.1652G>A - p.(Gly551Asp) - Trans
c.3528del - p.(Lys1177Serfs*15) - Trans
CF 365homozygotec.1652G>A - p.(Gly551Asp) - Trans
c.3528del - p.(Lys1177Serfs*15) - Trans
CF 886homozygotec.3310G>T - p.(Glu1104*) - Trans
c.579+1G>T - p.(=) - Trans
CF 1251homozygotec.328G>C - p.(Asp110His) - Trans
c.54-5811_164+2186delins182 - p.? - Trans
CF 1254homozygotec.2051_2052delinsG - p.(Lys684Serfs*38) - Trans
c.755delinsGCTGGGAAGAT - p.(Ala252Glyfs*9) - Trans
CF 976homozygotec.1766+5G>A - p.(=) - Trans
c.579+1G>T - p.(=) - Trans
CF 901homozygotec.2657+5G>A - p.(=) - Trans
CF 247homozygotec.1501A>G - p.(Thr501Ala) - Trans
c.1680-886A>G - p.(=) - Trans
CF 780homozygotec.1210-34_1210-6TG[11]T[5] - Trans
c.1684G>A - p.(Val562Ile) - Trans
c.2215del - p.(Val739Tyrfs*16) - Trans
CF 213homozygotec.2051_2052delinsG - p.(Lys684Serfs*38) - Trans
CF 211homozygotec.3623del - p.(Gly1208Alafs*3) - Trans
CF 210homozygotec.2051_2052delinsG - p.(Lys684Serfs*38) - Trans
c.54-5940_273+10250del - p.(Ser18Argfs*16) - Trans
CF 180homozygotec.3468G>A - p.(=) - Trans
c.579+1G>T - p.(=) - Trans
CF 804homozygotec.1000C>T - p.(Arg334Trp) - Trans
c.1040G>C - p.(Arg347Pro) - Trans
CF 816homozygotec.1519_1521del - p.(Ile507del) - Trans
c.2737_2738insG - p.(Tyr913*) - Trans
CF 298homozygotec.2051_2052delinsG - p.(Lys684Serfs*38) - Trans
c.2128A>T - p.(Lys710*) - Trans
CF 294homozygotec.1766+73T>G - p.(=) - Trans
c.2002C>T - p.(Arg668Cys) - Trans
CF 292homozygotec.1521_1523del - p.(Phe508del) - Trans
c.168del - p.(Glu56Aspfs*35) - Trans
CF 284homozygotec.3140-26A>G - p.(=) - Trans
c.494T>C - p.(Leu165Ser) - Trans
CF 176homozygotec.2051_2052del - p.(Lys684Thrfs*4) - Trans
c.2988+1G>A - p.(=) - Trans
CBAVD 841heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 894heterozygotevarying clinical consequence- Undef
VUS3- Undef
CBAVD 895heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 897heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 900heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 918heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 893heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 891heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 849heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 856heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 859heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 868heterozygoteCF-causing- Undef
VUS4- Undef
CBAVD 873heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 875heterozygoteCF-causing- Undef
VUS4- Undef
CBAVD 876heterozygoteCF-causing- Undef
VUS4- Undef
CBAVD 881heterozygoteVUS3- Undef
varying clinical consequence- Undef
CBAVD 927heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
VUS4- Undef
CBAVD 949heterozygoteVUS3- Undef
CF-causing- Undef
CBAVD 1244heterozygoteCF-causing- Undef
VUS5- Undef
CBAVD 658heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 710heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 712heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 717heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 721heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 724heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 728heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 687heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 665heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 675heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 678heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 679heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 682heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 763heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 774heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 792heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 806heterozygoteVUS3- Undef
CBAVD 810heterozygoteVUS2- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 735heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 736heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 743heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 746heterozygoteCFTR-RD-causing- Undef
CBAVD 751heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4650heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4543heterozygotevarying clinical consequence- Undef
VUS4- Undef
CBAVD 4552heterozygoteCF-causing- Undef
CBAVD 3267heterozygoteVUS3- Undef
CF-causing- Undef
CBAVD 4586heterozygoteCFTR-RD-causing- Undef
CBAVD 4592heterozygoteCFTR-RD-causing - Cis
varying clinical consequence - Trans
CBAVD 4598heterozygoteCF-causing- Undef
VUS1- Undef
VUS2- Undef
CBAVD 4599heterozygoteCFTR-RD-causing - Cis
CFTR-RD-causing - Trans
varying clinical consequence- Undef
CBAVD 4612heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4562heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 4566heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4571heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4574heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 4578heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 1314heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 1256heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
VUS1- Undef
CBAVD 1272heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 1284heterozygoteCF-causing- Undef
VUS3- Undef
CBAVD 1301heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 2421heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4622heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 4624heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 436heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 438heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 444heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 446heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 447heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 413heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 4740heterozygoteCF-causing- Undef
VUS1- Undef
CBAVD 4837heterozygoteCFTR-RD-causing- Undef
varying clinical consequence- Undef
CBAVD 4682heterozygoteCF-causing- Undef
VUS1- Undef
CFTR-RD-causing- Undef
CBAVD 4683heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4699heterozygoteCFTR-RD-causing- Undef
VUS2- Undef
CF-causing- Undef
CBAVD 4706heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4707heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 448heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 619heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
VUS1- Undef
CBAVD 591heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 589heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 499heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
VUS1- Undef
CBAVD 583heterozygoteCFTR-RD-causing- Undef
VUS4- Undef
CBAVD 498heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 500heterozygoteVUS4- Undef
CF-causing- Undef
CBAVD 522heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 497heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 480heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 484heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 492heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 599heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 494heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 495heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
VUS1- Undef
CBAVD 580heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 501heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 544heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 549heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 552heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 556heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 541heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 532heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
VUS1- Undef
CBAVD 530heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 512heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 514heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 520heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 525heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 526heterozygoteVUS3- Undef
CBAVD 572heterozygoteCF-causing- Undef
VUS4- Undef
CBAVD 528heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 565heterozygoteCFTR-RD-causing- Undef
VUS4- Undef
VUS1- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 476heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 458heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 653heterozygoteCFTR-RD-causing- Undef
varying clinical consequence- Undef
varying clinical consequence- Undef
CBAVD 626heterozygoteCFTR-RD-causing- Undef
varying clinical consequence- Undef
CBAVD 463heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 462heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 633heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 451heterozygoteCF-causing- Undef
VUS1- Undef
VUS5- Undef
CBAVD 477heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 452heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 632heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 454heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 643heterozygoteCFTR-RD-causing- Undef
varying clinical consequence- Undef
CBAVD 456heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 467heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 475heterozygoteVUS3- Undef
VUS1- Undef
CF-causing- Undef
CBAVD 450heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 656heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 640homozygotec.2737_2738insG - p.(Tyr913*) - Trans
c.350G>A - p.(Arg117His) - Trans
CBAVD 4589homozygotec.2991G>C - p.(Leu997Phe) - Trans
CBAVD 722homozygotec.1210-34_1210-6TG[12]T[5] - Trans
c.1A>G - p.? - Trans
CBAVD 650homozygotec.1466C>A - p.(Ser489*) - Trans
c.350G>A - p.(Arg117His) - Trans
CBAVD 660homozygotec.220C>T - p.(Arg74Trp) - Trans
c.3808G>A - p.(Asp1270Asn) - Trans
c.601G>A - p.(Val201Met) - Trans
CBAVD 4669homozygotec.1523T>G - p.(Phe508Cys) - Trans
c.2052del - p.(Lys684Asnfs*38) - Trans
CBAVD 4595homozygotec.1210-34_1210-6TG[12]T[5] - Trans
c.3454G>C - p.(Asp1152His) - Trans
CBAVD 664homozygote
CBAVD 659homozygotec.1327G>T - p.(Asp443Tyr) - Trans
c.1727G>C - p.(Gly576Ala) - Trans
c.2002C>T - p.(Arg668Cys) - Trans
c.4242_4242+1delinsTT - p.? - Trans
CBAVD 725homozygotec.1210-34_1210-6TG[11]T[5] - Trans
c.1684G>A - p.(Val562Ile) - Trans
c.3846G>A - p.(Trp1282*) - Trans
CBAVD 4554homozygotec.1516A>C - p.(Ile506Leu) - Trans
CBAVD 690homozygote
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 676homozygotec.1210-34_1210-6TG[11]T[5] - Trans
CBAVD 707homozygotec.2991G>C - p.(Leu997Phe) - Trans
CBAVD 4577homozygotec.1210-34_1210-6TG[12]T[5] - Trans
c.3140-26A>G - p.(=) - Trans
CBAVD 701homozygotec.350G>A - p.(Arg117His) - Trans
CBAVD 461homozygotec.1585-1G>A - p.(=) - Trans
c.2991G>C - p.(Leu997Phe) - Trans
CBAVD 981homozygotec.1210-34_1210-6TG[12]T[5] - Trans
c.2991G>C - p.(Leu997Phe) - Trans
CBAVD 986homozygotec.1210-34_1210-6TG[12]T[5] - Trans
c.1585-1G>A - p.(=) - Trans
CBAVD 990homozygotec.1A>G - p.? - Trans
c.3454G>C - p.(Asp1152His) - Trans
CBAVD 887homozygotec.1210-34_1210-6TG[12]T[5] - Trans
c.1475C>T - p.(Ser492Phe) - Trans
CBAVD 1242homozygotec.579+3A>G - p.(=) - Trans
CBAVD 919homozygotec.1210-34_1210-6TG[11]T[5] - Trans
c.1684G>A - p.(Val562Ile) - Trans
c.3846G>A - p.(Trp1282*) - Trans
CBAVD 478homozygotec.350G>A - p.(Arg117His) - Trans
c.4200_4201del - p.(Cys1400*) - Trans
CBAVD 455homozygotec.2856G>C - p.(Met952Ile) - Trans
CBAVD 449homozygotec.2939T>A - p.(Ile980Lys) - Trans
c.3605del - p.(Asp1202Alafs*9) - Trans
CBAVD 445homozygotec.1210-34_1210-6TG[12]T[5] - Trans
c.579+1G>T - p.(=) - Trans
CBAVD 443homozygote
CBAVD 931homozygotec.2538G>A - p.(Trp846*) - Trans
c.350G>A - p.(Arg117His) - Trans
CBAVD 441homozygotec.1523T>G - p.(Phe508Cys) - Trans
c.1631G>T - p.(Gly544Val) - Trans
CBAVD 938homozygotec.3458T>A - p.(Val1153Glu) - Trans
c.3889dup - p.(Ser1297Phefs*5) - Trans
CBAVD 941homozygotec.1046C>T - p.(Ala349Val) - Trans
c.580-1G>T - p.(=) - Trans
CBAVD 440homozygotec.1210-34_1210-6TG[11]T[5] - Trans
CBAVD 908homozygotec.1210-34_1210-6TG[11]T[5] - Trans
c.1466C>T - p.(Ser489Leu) - Trans
c.1684G>A - p.(Val562Ile) - Trans
CBAVD 423homozygotec.-165G>A - p.(=) - Trans
CBAVD 453homozygotec.1210-34_1210-6TG[12]T[3] - Trans
c.1523T>G - p.(Phe508Cys) - Trans
CBAVD 858homozygote
CBAVD 481homozygotec.1210-12T[5] - Trans
c.1579_1584+11del - p.(Gln525Leufs*37) - Trans
CBAVD 720homozygotec.4097T>C - p.(Ile1366Thr) - Trans
CBAVD 791homozygotec.3935A>G - p.(Asp1312Gly) - Trans
CBAVD 784homozygotec.1210-34_1210-6TG[12]T[5] - Trans
CBAVD 781homozygotec.1210-34_1210-6TG[11]T[5] - Trans
CBAVD 805homozygotec.580-92T>A - p.(=) - Trans
CBAVD 557homozygotec.1210-34_1210-6TG[12]T[5] - Trans
c.3700A>G - p.(Ile1234Val) - Trans
CBAVD 482homozygotec.2991G>C - p.(Leu997Phe) - Trans
CBAVD 489homozygotec.1210-34_1210-6TG[12]T[5] - Trans
c.2991G>C - p.(Leu997Phe) - Trans
CBAVD 823homozygote
CBAVD 818homozygote
CBAVD 1287homozygotec.1210-34_1210-6TG[12]T[5] - Trans
c.870-1113_870-1110del - p.(=) - Trans
CBAVD 812homozygotec.481T>A - p.(Tyr161Asn) - Trans
c.658C>T - p.(Gln220*) - Trans
Other 4671heterozygoteVUS3- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Other 4686heterozygoteVUS3- Undef
CF-causing- Undef
Other 4690heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Other 4695heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Other 4705heterozygoteCF-causing- Undef
CF-causing- Undef
Other 4714heterozygoteCF-causing- Undef
Other 186heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Other 358heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Other 464heterozygoteVUS3- Undef
CF-causing- Undef
Other 756heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Other 757heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Other 779heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Other 845heterozygoteCF-causing- Undef
Other 937heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Other 972heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Other 980heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
varying clinical consequence- Undef
Other 5243heterozygoteVUS3- Undef
VUS3- Undef
VUS1- Undef
Other 5264heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CF-causing- Undef
Other 5518heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Other 1265heterozygoteCF-causing- Undef
Other 4625heterozygoteVUS3- Undef
VUS3- Undef
Other 1576heterozygoteCF-causing- Undef
VUS1- Undef
Other 4547heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Other 4561heterozygoteCF-causing- Undef
VUS4- Undef
Other 4563heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
VUS3- Undef
Other 4567heterozygoteCF-causing- Undef
VUS4- Undef
Other 4570heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Other 4587heterozygoteCFTR-RD-causing- Undef
Other 4615heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Other 789homozygotec.1A>G - p.? - Trans
c.350G>A - p.(Arg117His) - Trans
Other 935homozygotec.349C>G - p.(Arg117Gly) - Trans
Other 1277homozygotec.1210-34_1210-6TG[12]T[5] - Trans
Other 4530homozygotec.1054C>T - p.(Arg352Trp) - Trans
c.3038C>A - p.(Pro1013His) - Trans
Other 4568homozygotec.1210-34_1210-6TG[12]T[5] - Trans
c.2559T>C - p.(=) - Trans
Other 4572homozygotec.1601C>A - p.(Ala534Glu) - Trans
Other 4582homozygotec.2991G>C - p.(Leu997Phe) - Trans
c.366T>A - p.(Tyr122*) - Trans
Other 4583homozygotec.1753G>T - p.(Glu585*) - Trans
c.2657+5G>A - p.(=) - Trans
Pending (NBS) 4694heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 4720heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Pending (NBS) 352heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 387heterozygoteCF-causing- Undef
VUS4- Undef
Pending (NBS) 734heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Pending (NBS) 775heterozygoteCF-causing- Undef
Pending (NBS) 951heterozygoteVUS2- Undef
CF-causing- Undef
VUS4- Undef
Pending (NBS) 1253heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
VUS3- Undef
Pending (NBS) 1255heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Pending (NBS) 4852heterozygoteCF-causing- Undef
VUS3- Undef
Pending (NBS) 1522heterozygoteCF-causing- Undef
VUS5- Undef
Pending (NBS) 1530heterozygoteVUS4- Undef
CF-causing- Undef
Pending (NBS) 4616heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Pending (NBS) 4621heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Pending (NBS) 4654heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Pending (NBS) 4645heterozygoteCF-causing- Undef
VUS3- Undef
VUS3- Undef
Pending (NBS) 3676heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Pending (NBS) 4549heterozygoteCF-causing- Undef
VUS2- Undef
VUS1- Undef
Pending (NBS) 4593heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 4606heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Pending (NBS) 803homozygotec.1069G>A - p.(Ala357Thr) - Trans
c.3731G>A - p.(Gly1244Glu) - Trans
Pending (NBS) 991homozygotec.220C>T - p.(Arg74Trp) - Trans
c.3140-26A>G - p.(=) - Trans
c.3808G>A - p.(Asp1270Asn) - Trans
Pending (NBS) 1295homozygotec.287C>A - p.(Ala96Glu) - Trans
Pending (NBS) 1307homozygotec.1769G>A - p.(Cys590Tyr) - Trans
c.3889dup - p.(Ser1297Phefs*5) - Trans
Pending (NBS) 4555homozygotec.3484C>T - p.(Arg1162*) - Trans
c.350G>A - p.(Arg117His) - Trans
Pending (NBS) 4569homozygotec.1471T>C - p.(Cys491Arg) - Trans
c.1585-1G>A - p.(=) - Trans
Bronchiectasis 4725heterozygoteCF-causing- Undef
VUS5- Undef
Bronchiectasis 4726heterozygoteCFTR-RD-causing- Undef
varying clinical consequence- Undef
Bronchiectasis 560heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Bronchiectasis 899heterozygoteCF-causing- Undef
Bronchiectasis 921heterozygoteCF-causing- Undef
VUS3- Undef
Bronchiectasis 950heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Bronchiectasis 4848heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Bronchiectasis 4863heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Bronchiectasis 4866heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Bronchiectasis 1542heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Bronchiectasis 3269heterozygoteCF-causing- Undef
VUS2- Undef
Bronchiectasis 4623heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Bronchiectasis 4657heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Bronchiectasis 4604heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Bronchiectasis 4607heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Bronchiectasis 4608heterozygoteVUS5- Undef
CF-causing- Undef
Bronchiectasis 693homozygotec.137C>A - p.(Ala46Asp) - Trans
c.350G>A - p.(Arg117His) - Trans
c.580-92T>A - p.(=) - Trans
Bronchiectasis 777homozygotec.1210-34_1210-6TG[11]T[5] - Trans
c.1684G>A - p.(Val562Ile) - Trans
Bronchiectasis 914homozygotec.1210-34_1210-6TG[12]T[5] - Trans
Bronchiectasis 966homozygotec.1585-9418T>C - p.(=) - Trans
c.899C>A - p.(Ala300Asp) - Trans
Bronchiectasis 4613homozygotec.2991G>C - p.(Leu997Phe) - Trans
Pancreatitis 964heterozygoteCFTR-RD-causing- Undef
VUS4- Undef
Pancreatitis 669heterozygoteCF-causing- Undef
Pancreatitis 776heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Pancreatitis 4636heterozygoteCF-causing- Undef
VUS3- Undef
Pancreatitis 3259heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Pancreatitis 4619heterozygoteVUS3- Undef
VUS3- Undef
Pancreatitis 4559heterozygoteCF-causing- Undef
VUS3- Undef
Pancreatitis 4581heterozygoteVUS3- Undef
CF-causing- Undef
Pancreatitis 4849heterozygoteCF-causing - Cis
CF-causing - Trans
Pancreatitis 205heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Pancreatitis 648homozygotec.1704G>T - p.(Leu568Phe) - Trans
c.254G>A - p.(Gly85Glu) - Trans
Pancreatitis 4565homozygotec.579+1G>T - p.(=) - Trans
Pending 907heterozygoteCF-causing- Undef
VUS3- Undef
Pending 243homozygotec.3485G>T - p.(Arg1162Leu) - Trans
Asymptomatic compound heterozygote 1290heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Asymptomatic compound heterozygote 4617heterozygoteVUS3 - Cis
CF-causing - Trans
Asymptomatic compound heterozygote 4641heterozygoteCF-causing- Undef
VUS1- Undef
Asymptomatic compound heterozygote 4656heterozygoteVUS3- Undef
VUS2- Undef
VUS3- Undef
VUS3- Undef
Asymptomatic compound heterozygote 4579heterozygoteVUS1- Undef
VUS4- Undef
Asymptomatic compound heterozygote 314homozygotec.200C>T - p.(Pro67Leu) - Trans
c.220C>T - p.(Arg74Trp) - Trans
c.3808G>A - p.(Asp1270Asn) - Trans
Asymptomatic compound heterozygote 922homozygotec.91C>T - p.(Arg31Cys) - Trans
CRS-NP 349heterozygoteCF-causing- Undef
VUS1- Undef
VUS1- Undef
CRS-NP 910heterozygoteCF-causing- Undef
CRS-NP 1239heterozygoteCF-causing- Undef
CRS-NP 1554heterozygoteCF-causing- Undef
CRS-NP 3284heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Fetal bowel anomalies 366heterozygoteCF-causing - Cis
CF-causing - Trans
Pending non-CF 753heterozygoteCF-causing- Undef
VUS3- Undef
Aquagenic palmoplantar keratoderma 4827heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef


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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