Variant NM_000492.4:c.744-33GATT[6]


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

Other databases:

Not found		dbSNP
no rs








Pathogenicity predictors:

Not found
Not found





No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 599
Asymptomatic compound heterozygote 12
CF 283
CFTR-RD262
  • Aquagenic palmoplantar keratoderma  2
  • Bronchiectasis  21
  • CBAVD  174
  • CRS-NP  5
  • Other  38
  • Pancreatitis  22
Fetal bowel anomalies 2
Pending 3
Pending (NBS) 35
Pending non-CF 2




Color code:   non disease-causing <   likely benign <   VUS <   likely pathogenic <   disease-causing

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 1228heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1232heterozygoteCF-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 5256heterozygoteVUS3- Undef
VUS2- Undef
CF-causing- Undef
CF 954heterozygoteCF-causing - Cis
CF-causing - Trans
CF 960heterozygoteCF-causing - Cis
CF-causing - Trans
CF 969heterozygoteCF-causing - Cis
CF-causing - Trans
CF 975heterozygoteCF-causing- Undef
VUS3- 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 1297heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1300heterozygoteCF-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 1549heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CF-causing- Undef
CF 1550heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1558heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1560heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4854heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4856heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1309heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1310heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1311heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1313heterozygotelikely CF- Undef
CF 1315heterozygoteCF-causing - Cis
CF-causing - Trans
CF 4853heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4862heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 4864heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 4858heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 4855heterozygoteVUS3- Undef
CF-causing- Undef
CF 1562heterozygoteCF-causing- Undef
CFTR-RD-causing- 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 733heterozygoteCF-causing- Undef
VUS3- 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 761heterozygoteCF-causing- Undef
CF-causing- Undef
CF 835heterozygoteCF-causing- Undef
CF-causing- Undef
CF 909heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 913heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 924heterozygoteCF-causing- Undef
CF-causing- Undef
CF 926heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 928heterozygoteCF-causing - Cis
CF-causing - Trans
CF 945heterozygoteCF-causing- Undef
CF-causing- Undef
CF 882heterozygoteVUS3- Undef
CF-causing- Undef
CF 884heterozygoteCF-causing- Undef
CF-causing- Undef
CF 889heterozygoteCF-causing- Undef
CF-causing- Undef
CF 947heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 5767heterozygoteCF-causing- Undef
CF-causing- Undef
CF 5948heterozygoteCF-causing- Undef
CF-causing- Undef
CF 5963heterozygoteCF-causing- Undef
CF-causing- Undef
CF 5965heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 5335heterozygoteCF-causing- Undef
CF-causing- Undef
CF 5341heterozygoteVUS3- Undef
CF-causing- Undef
CF 5615heterozygoteCF-causing- Undef
CF-causing- Undef
CF 3674heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4390heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CF 4580heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4585heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4596heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4439heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4553heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4560heterozygoteCF-causing- Undef
likely CF- Undef
CF 1569heterozygote
CF 5016heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 3275heterozygoteCF-causing- Undef
CF-causing- Undef
VUS3- Undef
CF 3282heterozygoteCF-causing- Undef
CF-causing- 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
VUS3- Undef
CF 4629heterozygoteCF-causing- Undef
CF-causing- Undef
VUS1- Undef
CF 5971heterozygoteCF-causing- Undef
VUS3- Undef
CF 5168heterozygoteCF-causing- Undef
VUS3- Undef
CF-causing- Undef
VUS3- Undef
CF 4747heterozygoteCF-causing- Undef
CF-causing- Undef
CF 5174heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 5345heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 234heterozygoteCF-causing- Undef
CF-causing- 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 338heterozygoteCF-causing- Undef
likely CF- Undef
CF 340heterozygoteVUS1- Undef
CF-causing- Undef
CF-causing- Undef
CF 341heterozygoteCF-causing- Undef
CF-causing- 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 316heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 310heterozygoteCF-causing - Cis
CF-causing - Trans
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 263heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CF 265heterozygoteCF-causing- Undef
CF-causing- Undef
CF 270heterozygoteCF-causing - Cis
CF-causing - Trans
CF 276heterozygoteCF-causing- Undef
CF-causing- Undef
CF 277heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 280heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 281heterozygoteCF-causing - Cis
CF-causing - Trans
CF 283heterozygoteCF-causing- Undef
CF-causing- Undef
CF 304heterozygoteCF-causing- Undef
CF-causing- Undef
VUS3- Undef
CF 307heterozygoteCF-causing - Cis
CF-causing - Trans
CF 355heterozygoteCF-causing - Cis
CF-causing - Trans
CF 359heterozygoteCF-causing- Undef
CF-causing- Undef
VUS3- Undef
CF 361heterozygoteCF-causing- Undef
CF-causing- Undef
CF 363heterozygoteCF-causing- Undef
CF-causing- Undef
CF 369heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 374heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CF 313heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
varying clinical consequence- Undef
CF 380heterozygoteCF-causing- Undef
CF-causing- Undef
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 392heterozygoteVUS3 - Cis
CF-causing - Cis
varying clinical consequence - Trans
CF 471heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 232heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 4732heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CF 105heterozygoteCF-causing - Cis
CF-causing - Trans
CF 128heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CF 137heterozygoteCF-causing - Cis
CF-causing - Trans
CF 139heterozygoteCF-causing- Undef
likely CF- Undef
CF 141heterozygoteCF-causing - Cis
CF-causing - Trans
CF 143heterozygoteCF-causing- Undef
CF-causing- Undef
CF 145heterozygoteCF-causing- Undef
CF-causing- Undef
CF 146heterozygoteCF-causing- Undef
CF-causing- Undef
CF 147heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4719heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 51heterozygoteCF-causing - Cis
CF-causing - Trans
CF 4665heterozygoteVUS3- Undef
CFTR-RD-causing- Undef
CF 148heterozygoteCF-causing - Cis
CF-causing - Trans
CF 152heterozygoteCF-causing- Undef
CF-causing- Undef
CF 184heterozygoteCF-causing- Undef
CF-causing- Undef
CF 193heterozygoteCF-causing- Undef
CF-causing- Undef
CF 195heterozygoteCF-causing- Undef
VUS3- Undef
CF-causing- Undef
CF 200heterozygoteCF-causing- Undef
CF-causing- Undef
CF 206heterozygoteCF-causing- Undef
CF 207heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 212heterozygoteCF-causing- Undef
CF-causing- Undef
CF 215heterozygoteCF-causing- Undef
VUS3- Undef
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
likely CF- Undef
CF 181heterozygoteCF-causing- Undef
CF-causing- Undef
CF 178heterozygoteCF-causing- Undef
CF-causing- Undef
VUS3- Undef
VUS1- 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 169heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 173heterozygoteCF-causing- Undef
CF-causing- Undef
CF 175heterozygoteCF-causing- Undef
CF-causing- Undef
CF 177heterozygoteCF-causing- Undef
CF-causing- Undef
CF 227heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 703heterozygoteCF-causing- Undef
CF-causing- Undef
CF 651heterozygoteCF-causing- Undef
CF-causing- Undef
CF 576heterozygoteCF-causing- Undef
CF-causing- Undef
CF 586heterozygoteCF-causing- Undef
CF-causing- Undef
CF 672heterozygoteCF-causing- Undef
CF-causing- Undef
CF 561heterozygoteCF-causing- Undef
CF-causing- Undef
CF 696heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CF-causing- Undef
CF 691heterozygoteCF-causing- Undef
CF-causing- Undef
CF 688heterozygoteCF-causing - Cis
CF-causing - Trans
CF 686heterozygoteVUS3- Undef
CF 681heterozygoteCF-causing- Undef
CF-causing- Undef
CF 559heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 666heterozygoteCF-causing - Cis
CF-causing - Trans
VUS3 - Trans
CF 663heterozygoteVUS2 - Cis
CF-causing - Cis
varying clinical consequence - Trans
CF 662heterozygoteVUS2 - Cis
CF-causing - Cis
varying clinical consequence - Trans
CF 654heterozygoteCF-causing- Undef
CF-causing- Undef
CF 668heterozygoteCF-causing- Undef
CF-causing- Undef
CF 623heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CF 596heterozygoteCF-causing- Undef
CF-causing- Undef
CF 597heterozygoteCF-causing- Undef
CF-causing- Undef
CF 600heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 616heterozygoteCF-causing - Cis
CF-causing - Trans
CF 622heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CF 652heterozygoteCF-causing- Undef
CF-causing- Undef
CF 567heterozygoteCF-causing- Undef
CF-causing- Undef
CF 472heterozygoteCF-causing - Cis
CF-causing - Trans
CF 714heterozygoteCF-causing - Cis
CF-causing - Trans
CF 711heterozygoteCF-causing- Undef
CF-causing- Undef
CF 750homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 764homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 55homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 702homozygotec.1521_1523del - p.(Phe508del) - Trans
c.1624G>T - p.(Gly542*) - Trans
CF 705homozygotec.1624G>T - p.(Gly542*) - Trans
CF 667homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 4605homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3454G>C - p.(Asp1152His) - Trans
CF 115homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 719homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 135homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 118homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 93homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 108homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 4603homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 715homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3909C>G - p.(Asn1303Lys) - Trans
CF 99homozygotec.1521_1523del - p.(Phe508del) - Trans
c.1624G>T - p.(Gly542*) - Trans
CF 3969homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2988+1173_3468+2111del - p.(Leu997_Leu1156del) - Trans
CF 4594homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3080T>C - p.(Ile1027Thr) - Trans
c.3196C>T - p.(Arg1066Cys) - Trans
CF 797homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 104homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 670homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 716homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3822G>A - p.(Trp1274*) - Trans
CF 125homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 170homozygotec.1521_1523del - p.(Phe508del) - Trans
c.580-1G>T - p.(=) - Trans
CF 466homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2502dup - p.(Asp835*) - Trans
c.3080T>C - p.(Ile1027Thr) - Trans
CF 1001homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 1000homozygotec.1521_1523del - p.(Phe508del) - Trans
c.1624G>T - p.(Gly542*) - Trans
CF 996homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 346homozygotec.1521_1523del - p.(Phe508del) - Trans
c.1624G>T - p.(Gly542*) - Trans
CF 3080homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 345homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 343homozygotec.1585-9412A>G - p.(=) - Trans
c.3909C>G - p.(Asn1303Lys) - Trans
CF 342homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 554homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 337homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 333homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3718-2477C>T - p.(=) - Trans
CF 356homozygotec.1521_1523del - p.(Phe508del) - Trans
c.1624G>T - p.(Gly542*) - Trans
CF 1009homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 1317homozygotec.1210-34_1210-6TG[13]T[5] - Trans
c.1624G>T - p.(Gly542*) - Trans
CF 457homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 487homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 1271homozygotec.1397C>G - p.(Ser466*) - Trans
c.3209G>A - p.(Arg1070Gln) - Trans
CF 50homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 390homozygotec.1521_1523del - p.(Phe508del) - Trans
c.1624G>T - p.(Gly542*) - Trans
CF 509homozygotec.1521_1523del - p.(Phe508del) - Trans
c.489+1G>T - p.(=) - Trans
CF 378homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 373homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2875del - p.(Ala959Hisfs*9) - Trans
CF 5067homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3874-4522A>G - p.(=) - Trans
CF 1012homozygotec.1521_1523del - p.(Phe508del) - Trans
c.1624G>T - p.(Gly542*) - Trans
CF 329homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 318homozygotec.1364C>A - p.(Ala455Glu) - Trans
c.1521_1523del - p.(Phe508del) - Trans
CF 629homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 630homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 190homozygotec.1521_1523del - p.(Phe508del) - Trans
c.1A>G - p.? - Trans
CF 189homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 637homozygotec.3484C>T - p.(Arg1162*) - Trans
c.695T>A - p.(Val232Asp) - Trans
CF 182homozygotec.1521_1523del - p.(Phe508del) - Trans
c.1624G>T - p.(Gly542*) - Trans
CF 863homozygotec.1521_1523del - p.(Phe508del) - Trans
c.1705T>G - p.(Tyr569Asp) - Trans
CF 860homozygotec.1521_1523del - p.(Phe508del) - Trans
c.1624G>T - p.(Gly542*) - Trans
c.3080T>C - p.(Ile1027Thr) - Trans
CF 727homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 174homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2875del - p.(Ala959Hisfs*9) - Trans
CF 231homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3605del - p.(Asp1202Alafs*9) - Trans
CF 592homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 241homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 563homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 376homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 568homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2770G>A - p.(Asp924Asn) - Trans
CF 306homozygotec.1521_1523del - p.(Phe508del) - Trans
c.1624G>T - p.(Gly542*) - Trans
CF 4764homozygotec.1521_1523del - p.(Phe508del) - Trans
c.1670del - p.(Ser557Phefs*2) - Trans
CF 4744homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2816A>G - p.(His939Arg) - Trans
CF 301homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 943homozygotec.1040G>A - p.(Arg347His) - Trans
c.1521_1523del - p.(Phe508del) - Trans
CF 930homozygotec.3909C>G - p.(Asn1303Lys) - Trans
CF 274homozygotec.1521_1523del - p.(Phe508del) - Trans
c.1624G>T - p.(Gly542*) - Trans
CF 585homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 587homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 171homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3140-26A>G - p.(=) - Trans
CBAVD 1244heterozygoteCF-causing- Undef
likely CFTR-RD- Undef
CBAVD 1256heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 1272heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 1284heterozygoteCF-causing- Undef
VUS3- Undef
CBAVD 978heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 1301heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 1314heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 949heterozygoteVUS3- Undef
CF-causing- Undef
CBAVD 728heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 765heterozygoteCF-causing- Undef
varying clinical consequence- 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 834heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 763heterozygoteCFTR-RD-causing- 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 840heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 841heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 900heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 912heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 918heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 927heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 897heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 895heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 849heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 856heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 857heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 859heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 868heterozygoteCF-causing- Undef
likely CFTR-RD- Undef
CBAVD 873heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 875heterozygoteCF-causing- Undef
likely CFTR-RD- Undef
CBAVD 876heterozygoteCF-causing- Undef
likely CFTR-RD- Undef
CBAVD 891heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 893heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 894heterozygotevarying clinical consequence- Undef
VUS3- Undef
CBAVD 5943heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5945heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5947heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5766heterozygotevarying clinical consequence- Undef
CFTR-RD-causing- Undef
CBAVD 5764heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5600heterozygoteVUS3- Undef
CBAVD 5603heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5610heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4586heterozygoteCFTR-RD-causing- Undef
CBAVD 4598heterozygoteCF-causing- Undef
VUS3- 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
CBAVD 4578heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 4574heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 4543heterozygotevarying clinical consequence- Undef
VUS3- Undef
CBAVD 4552heterozygoteCF-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
CBAVD 5015heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 3267heterozygoteVUS3- Undef
CF-causing- Undef
CBAVD 4755heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 4754heterozygoteCF-causing- Undef
CFTR-RD-causing- 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 4650heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4756heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4761heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 4752heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4753heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5590heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5591heterozygoteCFTR-RD-causing- Undef
varying clinical consequence- Undef
CBAVD 5944heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5968heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5969heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 5346heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5330heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5173heterozygoteCF-causing- Undef
varying clinical consequence- Undef
VUS3- Undef
CBAVD 5343heterozygoteVUS3- Undef
VUS3- 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 448heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 450heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 451heterozygoteCF-causing- Undef
VUS3- Undef
likely CFTR-RD- Undef
CBAVD 452heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 454heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 456heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 458heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 462heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 463heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 467heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 438heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 434heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 436heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 413heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 4740heterozygoteCF-causing- Undef
VUS1- Undef
CBAVD 4679heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 4682heterozygoteCF-causing- Undef
VUS3- Undef
CFTR-RD-causing- Undef
CBAVD 4683heterozygoteCFTR-RD-causing- Undef
CF-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 572heterozygoteCF-causing- Undef
likely CFTR-RD- Undef
CBAVD 679heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 580heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 678heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 583heterozygoteCFTR-RD-causing- Undef
VUS3- Undef
CBAVD 675heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 565heterozygoteCFTR-RD-causing- Undef
VUS3- Undef
VUS1- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 682heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 552heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 687heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 556heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 589heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 653heterozygoteCFTR-RD-causing- Undef
varying clinical consequence- Undef
varying clinical consequence- Undef
CBAVD 632heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 633heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 665heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 658heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 656heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 626heterozygoteCFTR-RD-causing- Undef
varying clinical consequence- Undef
CBAVD 591heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 599heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 614heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 619heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
VUS3- Undef
CBAVD 710heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 500heterozygotenon-CF- Undef
CF-causing- Undef
CBAVD 721heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 499heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
VUS3- Undef
CBAVD 501heterozygoteCFTR-RD-causing- 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 522heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 525heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 498heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 497heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 495heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
VUS1- Undef
CBAVD 476heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 477heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 480heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 484heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 490heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 724heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 491heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 492heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 494heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 528heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 712heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 475heterozygoteVUS3- Undef
non-CF- Undef
CF-causing- Undef
CBAVD 544heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 548heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 717heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 532heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
VUS3- Undef
CBAVD 530heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 541heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 549heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 837homozygotec.1210-34_1210-6TG[13]T[5] - Trans
c.1521_1523del - p.(Phe508del) - Trans
CBAVD 65homozygotec.1210-12T[5] - Trans
c.1521_1523del - p.(Phe508del) - Trans
CBAVD 5765homozygotec.1210-34_1210-6TG[13]T[5] - Trans
c.1624G>T - p.(Gly542*) - Trans
CBAVD 838homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3415A>G - p.(Ile1139Val) - Trans
CBAVD 786homozygotec.1210-34_1210-6TG[13]T[5] - Trans
c.1521_1523del - p.(Phe508del) - Trans
CBAVD 4531homozygotec.1521_1523del - p.(Phe508del) - Trans
CBAVD 5068homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3874-4522A>G - p.(=) - Trans
CBAVD 553homozygotec.1624G>T - p.(Gly542*) - Trans
c.509G>A - p.(Arg170His) - Trans
CBAVD 4663homozygotec.1210-34_1210-6TG[13]T[5] - Trans
c.262_263del - p.(Leu88Ilefs*22) - Trans
CBAVD 465homozygotec.1210-34_1210-6TG[12]T[5] - Trans
c.1521_1523del - p.(Phe508del) - Trans
c.2981T>G - p.(Phe994Cys) - Trans
CBAVD 1281homozygotec.1210-34_1210-6TG[13]T[5] - Trans
CBAVD 536homozygote
CBAVD 5325homozygotec.1210-34_1210-6TG[13]T[5] - Trans
c.769G>T - p.(Glu257*) - Trans
CBAVD 647homozygotec.1040G>A - p.(Arg347His) - Trans
c.1521_1523del - p.(Phe508del) - Trans
CBAVD 5344homozygotec.1364C>A - p.(Ala455Glu) - Trans
c.1521_1523del - p.(Phe508del) - Trans
Other 4671heterozygoteVUS3- 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
Other 980heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
varying clinical consequence- Undef
Other 5243heterozygoteVUS3- Undef
Other 5264heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CF-causing- Undef
Other 5518heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Other 1265heterozygoteCF-causing- Undef
Other 5575heterozygoteVUS3- Undef
CF-causing- Undef
Other 4762heterozygoteVUS3- Undef
CF-causing- Undef
Other 1576heterozygoteCF-causing- Undef
VUS1- Undef
Other 4625heterozygoteVUS3- Undef
Other 5175heterozygoteCF-causing- Undef
VUS3- Undef
Other 5763heterozygoteVUS3- Undef
CF-causing- Undef
non-CF- Undef
Other 5775heterozygoteCF-causing- Undef
VUS3- Undef
VUS3- Undef
Other 5163heterozygoteCF-causing- Undef
VUS3- Undef
Other 4547heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Other 4561heterozygoteCF-causing- Undef
non-CF- Undef
Other 4563heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
VUS3- Undef
Other 4567heterozygoteCF-causing- Undef
VUS3- Undef
Other 4570heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
Other 4587heterozygoteCFTR-RD-causing- Undef
Other 4615heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Other 4698homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2909-15T>G - p.(=) - Trans
Other 940homozygotec.1521_1523del - p.(Phe508del) - Trans
Other 4600homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3454G>C - p.(Asp1152His) - Trans
Pending (NBS) 1253heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
VUS3- Undef
Pending (NBS) 1255heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Pending (NBS) 951heterozygoteVUS2- Undef
CF-causing- Undef
likely CF- Undef
Pending (NBS) 1522heterozygoteCF-causing- Undef
non-CF- Undef
Pending (NBS) 1530heterozygoteVUS4- Undef
CF-causing- Undef
Pending (NBS) 1547heterozygoteCF-causing - Cis
varying clinical consequence - Trans
Pending (NBS) 4852heterozygoteCF-causing- Undef
VUS3- Undef
Pending (NBS) 775heterozygoteCF-causing- Undef
Pending (NBS) 794heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Pending (NBS) 799heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Pending (NBS) 734heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Pending (NBS) 5769heterozygoteCF-causing- Undef
varying clinical consequence- Undef
VUS3- Undef
Pending (NBS) 5773heterozygoteCF-causing- Undef
VUS3- Undef
VUS3- Undef
Pending (NBS) 5951heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Pending (NBS) 5342heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Pending (NBS) 5609heterozygoteVUS3- Undef
CF-causing- 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) 4549heterozygoteCF-causing- Undef
VUS3- Undef
Pending (NBS) 5017heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 4616heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pending (NBS) 4621heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Pending (NBS) 5313heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 5310heterozygoteCF-causing- Undef
CF-causing- Undef
VUS3- Undef
Pending (NBS) 4645heterozygoteCF-causing- Undef
VUS3- Undef
Pending (NBS) 5327heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Pending (NBS) 352heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 387heterozygoteCF-causing- Undef
VUS3- Undef
Pending (NBS) 4720heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Pending (NBS) 4694heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 590heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Pending (NBS) 1312homozygotec.1521_1523del - p.(Phe508del) - Trans
c.273+4A>G - p.(=) - Trans
Pending (NBS) 726homozygotec.1521_1523del - p.(Phe508del) - Trans
c.1801A>T - p.(Ile601Phe) - Trans
Pending (NBS) 4620homozygotec.1040G>A - p.(Arg347His) - Trans
c.1521_1523del - p.(Phe508del) - Trans
Pending (NBS) 646homozygotec.1210-34_1210-6TG[13]T[5] - Trans
c.1521_1523del - p.(Phe508del) - Trans
Bronchiectasis 4725heterozygoteCF-causing- Undef
CFTR-RD-causing- 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
Bronchiectasis 4623heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Bronchiectasis 4657heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Bronchiectasis 5005heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Bronchiectasis 5618heterozygoteVUS3- Undef
Bronchiectasis 5950heterozygoteCF-causing- Undef
VUS3- Undef
Bronchiectasis 5952heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Bronchiectasis 4604heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Bronchiectasis 4607heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Bronchiectasis 4608heterozygotelikely CFTR-RD- Undef
CF-causing- Undef
Bronchiectasis 5151homozygotec.3415A>G - p.(Ile1139Val) - Trans
c.3824A>T - p.(Asp1275Val) - Trans
Bronchiectasis 4601homozygotec.1624G>T - p.(Gly542*) - Trans
c.490-3T>G - p.(=) - Trans
Pancreatitis 964heterozygoteCFTR-RD-causing- Undef
VUS3- Undef
Pancreatitis 776heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Pancreatitis 5339heterozygotevarying clinical consequence- Undef
CFTR-RD-causing- Undef
Pancreatitis 5364heterozygoteVUS3- Undef
Pancreatitis 5611heterozygoteCFTR-RD-causing- Undef
VUS3- Undef
Pancreatitis 4581heterozygoteVUS3- Undef
CF-causing- Undef
Pancreatitis 4559heterozygoteCF-causing- Undef
VUS3- Undef
Pancreatitis 5332heterozygote
Pancreatitis 4619heterozygoteVUS3- Undef
VUS3- Undef
Pancreatitis 4636heterozygoteCF-causing- Undef
non-CF- Undef
Pancreatitis 5973heterozygoteVUS3- Undef
VUS3- Undef
Pancreatitis 5974heterozygoteVUS3- Undef
Pancreatitis 5165heterozygoteVUS3- Undef
VUS3- Undef
Pancreatitis 5154heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Pancreatitis 5326heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
varying clinical consequence- Undef
Pancreatitis 4743heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pancreatitis 5007heterozygoteVUS3- Undef
CF-causing- Undef
Pancreatitis 205heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Pancreatitis 669heterozygoteCF-causing- Undef
Pancreatitis 5949homozygotec.1210-34_1210-6TG[13]T[5] - Trans
c.1521_1523del - p.(Phe508del) - Trans
Pancreatitis 4614homozygotec.1841A>G - p.(Asp614Gly) - Trans
c.2657+5G>A - p.(=) - Trans
Pancreatitis 3253homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3205G>A - p.(Gly1069Arg) - Trans
CRS-NP 349heterozygoteCF-causing- 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
Fetal bowel anomalies 5604heterozygoteVUS3- Undef
Pending non-CF 753heterozygoteCF-causing- Undef
VUS3- Undef
Pending non-CF 5009heterozygoteVUS3- Undef
CF-causing- Undef
Pending 907heterozygoteCF-causing- Undef
VUS3- Undef
Pending 4748heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending 5771homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2988+1173_3468+2111del - p.(Leu997_Leu1156del) - Trans
Aquagenic palmoplantar keratoderma 4827heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Aquagenic palmoplantar keratoderma 5149heterozygoteVUS3- Undef
CF-causing- Undef
Asymptomatic compound heterozygote 1290heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Asymptomatic compound heterozygote 4617heterozygoteCF-causing - Cis
VUS3 - Trans
Asymptomatic compound heterozygote 4641heterozygoteCF-causing- Undef
Asymptomatic compound heterozygote 4656heterozygoteVUS3- Undef
VUS3- Undef
Asymptomatic compound heterozygote 4763heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Asymptomatic compound heterozygote 5598heterozygoteCF-causing- Undef
VUS3- Undef
Asymptomatic compound heterozygote 5599heterozygoteCF-causing- Undef
Asymptomatic compound heterozygote 5601heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Asymptomatic compound heterozygote 5606heterozygoteVUS3- Undef
non-CF- Undef
CF-causing- Undef
Asymptomatic compound heterozygote 5964heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
Asymptomatic compound heterozygote 4579heterozygoteVUS1- Undef
VUS3- Undef
Asymptomatic compound heterozygote 5164homozygotec.1521_1523del - p.(Phe508del) - Trans


Color code:   non disease-causing <   likely benign <   VUS <   likely pathogenic <   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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