Variant NM_000492.4:c.1210-12T[7]


Variant details:
Name NM_000492.4:c.1210-12T[7]
#Exon/intron intron 9
Legacy Name poly-T tract variations
Class non disease-causing

Other databases:
dbSNP
rs1805177








Pathogenicity predictors:

Not found
Not found





No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 558
Asymptomatic compound heterozygote 17
CF 253
CFTR-RD232
  • Bronchiectasis  15
  • CBAVD  154
  • CRS-NP  5
  • Other  40
  • Pancreatitis  18
Fetal bowel anomalies 7
Pending 6
Pending (NBS) 41
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
CBAVD 1979heterozygotevarying clinical consequence - Trans
CFTR-RD-causing- Undef
CBAVD 2004heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 2025heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 2222heterozygotevarying clinical consequence - Trans
CF-causing- Undef
CBAVD 2263heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 2681heterozygoteCF-causing- Undef
non-CF- Undef
CBAVD 1968heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 1780heterozygotevarying clinical consequence - Trans
CF-causing- Undef
CBAVD 4987heterozygoteVUS3- Undef
CF-causing- Undef
CBAVD 1855heterozygotevarying clinical consequence - Trans
VUS3- Undef
CBAVD 1893heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5665heterozygoteCFTR-RD-causing - Cis
CFTR-RD-causing - Trans
CFTR-RD-causing - Trans
CBAVD 2689heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 2693heterozygoteCF-causing- Undef
VUS3- Undef
CFTR-RD-causing- Undef
CBAVD 2806heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 2820heterozygoteCF-causing- Undef
likely CFTR-RD- Undef
CBAVD 2822heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 2824heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 2853heterozygoteCFTR-RD-causing - Cis
CFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 2803heterozygoteCF-causing- Undef
CBAVD 2700heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 2709heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 2714heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 2734heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 2743heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 2756heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 2757heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 2759heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 1177heterozygotevarying clinical consequence - Trans
CBAVD 1268heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 1429heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 1430heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 1433heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 1435heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 1437heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 1439heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 1467heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 1470heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 1475heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 1480heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 1496heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 1425heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 1397heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 1341heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 1347heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 1361heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 1362heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 1364heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 1372heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 1378heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 3416heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 4238heterozygoteCF-causing- Undef
likely CFTR-RD- Undef
CBAVD 5766heterozygoteCFTR-RD-causing - Cis
varying clinical consequence - Trans
CBAVD 4239heterozygoteCF-causing- Undef
likely CFTR-RD- Undef
CBAVD 4503heterozygoteCF-causing- Undef
VUS2- Undef
CBAVD 4524heterozygoteCF-causing- Undef
likely CFTR-RD- Undef
CBAVD 4531heterozygoteCF-causing- Undef
CBAVD 4540heterozygotevarying clinical consequence - Trans
CF-causing- Undef
CBAVD 4264heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4291heterozygoteVUS3- Undef
CBAVD 4310heterozygoteCF-causing- Undef
CBAVD 4333heterozygotevarying clinical consequence - Trans
non-CF- Undef
CBAVD 4414heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4419heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 3415heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 2989heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3241heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3265heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3266heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3273heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 2991heterozygoteCF-causing- Undef
CBAVD 3100heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3281heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 3372heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3374heterozygoteCFTR-RD-causing- Undef
varying clinical consequence- Undef
CBAVD 3376heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 3377heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3381heterozygoteCFTR-RD-causing- Undef
varying clinical consequence- Undef
CBAVD 3382heterozygoteCF-causing- Undef
non-CF- Undef
CBAVD 3387heterozygoteCF-causing- Undef
non-CF- Undef
CBAVD 3390heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3391heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3392heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3395heterozygoteCF-causing- Undef
non-CF- Undef
CBAVD 3396heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3370heterozygoteCF-causing- Undef
likely CFTR-RD- Undef
CBAVD 3364heterozygoteCF-causing- Undef
CBAVD 3314heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3322heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 3323heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 3324heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3331heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3335heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3339heterozygotelikely CFTR-RD- Undef
CF-causing- Undef
CBAVD 3343heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 3344heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3354heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3355heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3361heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3362heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3414heterozygotevarying clinical consequence- Undef
varying clinical consequence- Undef
CBAVD 432heterozygoteCF-causing- Undef
CBAVD 447heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 469heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 477heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 481heterozygotevarying clinical consequence - Trans
CF-causing- Undef
CBAVD 482heterozygoteCFTR-RD-causing- Undef
CBAVD 483heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 485heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 492heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 494heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 498heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 513heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 425heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 412heterozygotelikely CFTR-RD - Cis
CF-causing - Trans
CBAVD 407heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 411heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 515heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 468heterozygoteCF-causing- Undef
CBAVD 678heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 679heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 687heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 712heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 1030heterozygotevarying clinical consequence - Trans
CFTR-RD-causing- Undef
CBAVD 774heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 544heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 555heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 571heterozygotevarying clinical consequence - Trans
CF-causing- Undef
CBAVD 553heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 541heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 530heterozygotevarying clinical consequence - Trans
CF-causing- Undef
CBAVD 539heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 537heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 4487homozygotec.902A>G - p.(Tyr301Cys) - Trans
CBAVD 4484homozygotec.1721C>A - p.(Pro574His) - Trans
c.2601dup - p.(Val868Serfs*28) - Trans
CBAVD 2690homozygote
CBAVD 2885homozygotec.1013C>T - p.(Thr338Ile) - Trans
c.350G>A - p.(Arg117His) - Trans
CBAVD 4979homozygotec.3304A>T - p.(Arg1102*) - Trans
c.350G>A - p.(Arg117His) - Trans
CBAVD 2713homozygotec.3454G>C - p.(Asp1152His) - Trans
c.3846G>A - p.(Trp1282*) - Trans
CBAVD 2742homozygotec.1657C>T - p.(Arg553*) - Trans
c.350G>A - p.(Arg117His) - Trans
CBAVD 2747homozygotec.274G>A - p.(Glu92Lys) - Trans
c.3454G>C - p.(Asp1152His) - Trans
CBAVD 2749homozygote
CBAVD 2774homozygotec.1405A>G - p.(Met469Val) - Trans
c.166G>A - p.(Glu56Lys) - Trans
CBAVD 8homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3454G>C - p.(Asp1152His) - Trans
CBAVD 2208homozygotec.350G>A - p.(Arg117His) - Trans
c.366T>A - p.(Tyr122*) - Trans
CBAVD 3310homozygotec.1405A>G - p.(Met469Val) - Trans
c.1585-1G>A - p.(=) - Trans
CBAVD 3311homozygotec.2657+5G>A - p.(=) - Trans
c.3454G>C - p.(Asp1152His) - Trans
CBAVD 3321homozygotec.350G>A - p.(Arg117His) - Trans
CBAVD 3349homozygote
CBAVD 3371homozygotec.1373G>T - p.(Gly458Val) - Trans
c.350G>A - p.(Arg117His) - Trans
CBAVD 3373homozygotec.3140-26A>G - p.(=) - Trans
c.4297G>A - p.(Glu1433Lys) - Trans
CBAVD 3405homozygotec.1405A>G - p.(Met469Val) - Trans
c.1585-1G>A - p.(=) - Trans
CBAVD 3411homozygote
CBAVD 3309homozygotec.1646G>A - p.(Ser549Asn) - Trans
c.3454G>C - p.(Asp1152His) - Trans
CF 2182heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CF 2644heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1932heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1531heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1533heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1545heterozygotevarying clinical consequence - Cis
CF-causing - Trans
CF 1578heterozygoteCF-causing - Cis
CF-causing - Trans
CF 4988heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CF 2830heterozygoteCF-causing- Undef
CF-causing- Undef
CF 2879heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 2880heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CF 2883heterozygoteCF-causing - Cis
CF-causing - Trans
CF 2898heterozygoteCF-causing- Undef
CF-causing- Undef
VUS3- Undef
CF 2763heterozygoteCF-causing- Undef
CF-causing- Undef
CF 2797heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1525heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1173heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1186heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1211heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1227heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1233heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CF 1241heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1172heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1166heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1121heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1125heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1144heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1148heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1151heterozygoteCF-causing- Undef
VUS3- Undef
CF 1152heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1153heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1157heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1299heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1303heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1306heterozygoteCF-causing - Cis
CF-causing - Trans
CF 4847heterozygoteCF-causing - Trans
varying clinical consequence- Undef
CF 4860heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 2962heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 4230heterozygoteCF-causing- Undef
CF-causing- Undef
VUS2- Undef
CF 3674heterozygoteCF-causing- Undef
CF-causing- Undef
CF 5571heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CF 5335heterozygoteCF-causing - Cis
CF-causing - Trans
CF 4493heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4494heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4499heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 4507heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4525heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4485heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 4483heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 4297heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4439heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4480heterozygoteCF-causing- Undef
VUS2- Undef
CF 3243heterozygoteCF-causing - Cis
CF-causing - Trans
CF 3275heterozygoteCF-causing- Undef
CF-causing- Undef
VUS3- Undef
CF 3169heterozygoteCF-causing- Undef
CF-causing- Undef
CF 3154heterozygoteCF-causing- Undef
CF-causing- Undef
CF 3070heterozygoteCF-causing- Undef
CF-causing- Undef
CF 3116heterozygoteCF-causing- Undef
CF-causing- Undef
CF 3132heterozygoteCF-causing- Undef
CF-causing- Undef
CF 3152heterozygoteCF-causing- Undef
CF-causing- Undef
CF 234heterozygoteCF-causing- Undef
CF-causing- Undef
CF 276heterozygoteCF-causing- Undef
CF-causing- Undef
CF 283heterozygoteCF-causing- Undef
CF-causing- Undef
CF 297heterozygoteCF-causing- Undef
CF-causing- Undef
VUS3- Undef
CF 304heterozygoteCF-causing- Undef
CF-causing- Undef
VUS3- Undef
CF 308heterozygoteCF-causing- Undef
CF-causing- Undef
CF 309heterozygoteCF-causing - Cis
CF-causing - Trans
CF 320heterozygoteCF-causing- Undef
CF-causing- Undef
CF 321heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 326heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CF 335heterozygoteCF-causing- Undef
CF-causing- Undef
CF 338heterozygoteCF-causing- Undef
likely CF- Undef
CF 340heterozygoteVUS1- Undef
CF-causing- Undef
CF-causing- Undef
CF 266heterozygoteCF-causing- Undef
CF-causing- Undef
CF 265heterozygoteCF-causing- Undef
CF-causing- Undef
CF 236heterozygoteCF-causing- Undef
CF-causing- Undef
CF 238heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 240heterozygoteCF-causing- Undef
CF-causing- Undef
CF 244heterozygoteCF-causing- Undef
CF-causing- Undef
CF 245heterozygoteCF-causing- Undef
VUS1- Undef
VUS3- Undef
CF-causing- Undef
CF 248heterozygoteCF-causing- Undef
CF-causing- Undef
CF 249heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 251heterozygoteCF-causing- Undef
CF-causing- Undef
CF 259heterozygoteCF-causing- Undef
CF-causing- Undef
CF 261heterozygoteCF-causing- Undef
CF-causing- Undef
CF 262heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 264heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 341heterozygoteCF-causing- Undef
CF-causing- Undef
CF 350heterozygoteCF-causing- Undef
CF-causing- Undef
CF 351heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 159heterozygotevarying clinical consequence - 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 373heterozygoteCF-causing- Undef
CF-causing- Undef
CF 380heterozygoteCF-causing- Undef
CF-causing- Undef
CF 381heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 382heterozygoteCF-causing- Undef
VUS3- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CF 29heterozygoteCF-causing - Cis
CF-causing - Trans
CF 151heterozygoteCF-causing- Undef
CF-causing- Undef
CF 158heterozygoteCF-causing- Undef
CF-causing- Undef
CF 160heterozygoteCF-causing- Undef
CF-causing- Undef
CF 161heterozygoteCF-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 174heterozygoteCF-causing- Undef
CF-causing- Undef
CF 177heterozygoteCF-causing- Undef
CF-causing- Undef
CF 178heterozygoteCF-causing- Undef
CF-causing- Undef
VUS3- Undef
VUS1- Undef
CF 181heterozygoteCF-causing- Undef
CF-causing- Undef
CF 145heterozygoteCF-causing- Undef
CF-causing- Undef
CF 143heterozygoteCF-causing- Undef
CF-causing- Undef
CF 47heterozygoteCF-causing- Undef
CF-causing- Undef
VUS3- Undef
CF 92heterozygoteCF-causing - Cis
CF-causing - Trans
CF 94heterozygoteCF-causing- Undef
CF-causing- Undef
CF 107heterozygoteCF-causing - Cis
CF-causing - Trans
CF 114heterozygoteVUS3 - Cis
varying clinical consequence - Trans
CF 121heterozygoteCF-causing- Undef
CF-causing- Undef
CF 131heterozygoteVUS3- Undef
CF-causing- Undef
CF-causing- Undef
CF 132heterozygoteCF-causing- Undef
VUS3- Undef
CF-causing- Undef
CF 133heterozygoteCF-causing - Cis
CF-causing - Trans
CF 138heterozygoteCF-causing- Undef
CF-causing- Undef
CF 142heterozygoteCF-causing - Cis
CF-causing - Trans
CF 187heterozygoteCF-causing- Undef
VUS3- Undef
CF-causing- Undef
CF 188heterozygoteCF-causing- Undef
likely CF- Undef
CF 190heterozygoteCF-causing- Undef
CF-causing- Undef
CF 212heterozygoteCF-causing- Undef
CF-causing- Undef
CF 215heterozygoteCF-causing- Undef
VUS3- Undef
CF 218heterozygoteCF-causing- Undef
CF-causing- Undef
CF 220heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 221heterozygoteCF-causing- Undef
CF-causing- Undef
CF 222heterozygoteCF-causing- Undef
CF-causing- Undef
CF 223heterozygoteCF-causing- Undef
CF-causing- Undef
CF 225heterozygoteCF-causing- Undef
likely CF- Undef
CF 227heterozygotevarying clinical consequence - Cis
CF-causing - Trans
CF 228heterozygotevarying clinical consequence - Cis
CF-causing - Trans
CF 229heterozygoteCF-causing- Undef
CF-causing- Undef
CF 232heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 209heterozygoteCF-causing- Undef
CF-causing- Undef
CF 193heterozygoteCF-causing- Undef
CF-causing- Undef
CF 194heterozygoteCF-causing- Undef
CF-causing- Undef
CF 195heterozygoteCF-causing- Undef
VUS3- Undef
CF-causing- Undef
CF 197heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 198heterozygoteCF-causing- Undef
CF-causing- Undef
CF 199heterozygoteCF-causing- Undef
CF-causing- Undef
CF 200heterozygoteCF-causing - Cis
CF-causing - Trans
CF 201heterozygoteCF-causing- Undef
CF-causing- Undef
CF 202heterozygoteCF-causing- Undef
VUS3- Undef
CF-causing- Undef
CF 203heterozygoteCF-causing- Undef
CF-causing- Undef
CF 207heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 208heterozygoteCF-causing- Undef
CF-causing- Undef
CF 233heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 600heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 4790heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CF 4788heterozygotevarying clinical consequence - Cis
CF-causing - Trans
CF 745heterozygoteCF-causing- Undef
CF-causing- Undef
CF 848heterozygoteCF-causing - Cis
CF-causing - Trans
CF 601heterozygoteCF-causing- Undef
CF-causing- Undef
CF 5185heterozygoteCF-causing- Undef
CF-causing- Undef
VUS3- Undef
CF 4797heterozygoteCF-causing - Cis
CF-causing - Trans
CF 4796heterozygoteCF-causing - Cis
CF-causing - Trans
VUS3- Undef
VUS3- Undef
varying clinical consequence- Undef
CF 4793heterozygoteCF-causing- Undef
CF-causing- Undef
CF 637heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 997heterozygotevarying clinical consequence - Cis
CF-causing - Trans
CF 998heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1005heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1006heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1010heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1018heterozygoteCF-causing- Undef
VUS3- Undef
CF 1022heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1026heterozygoteCF-causing- Undef
CF-causing- Undef
CF 994heterozygoteCF-causing - Cis
CF-causing - Trans
CF 4775heterozygoteCF-causing- Undef
CF-causing- Undef
CF 985heterozygoteCF-causing - Cis
CF-causing - Trans
CF 4784heterozygoteCF-causing- Undef
CF-causing- Undef
CF 788heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 846heterozygoteCF-causing - Cis
CF-causing - Trans
CF 936heterozygoteCF-causing - Cis
CF-causing - Trans
CF 955heterozygoteCF-causing - Cis
CF-causing - Trans
CF 4776heterozygotevarying clinical consequence - Cis
varying clinical consequence - Trans
CF 5186heterozygoteCF-causing- Undef
varying clinical consequence- Undef
VUS3- Undef
CF 559heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 576heterozygoteCF-causing- Undef
CF-causing- Undef
CF 620heterozygoteCF-causing- Undef
CF-causing- Undef
CF 567heterozygoteCF-causing- Undef
CF-causing- Undef
CF 561heterozygoteCF-causing- Undef
CF-causing- Undef
CF 597heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1086heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1085heterozygoteCF-causing- Undef
CF-causing- Undef
CF 596heterozygoteCF-causing- Undef
CF-causing- Undef
CF 594heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 586heterozygoteCF-causing- Undef
CF-causing- Undef
CF 582heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CF 112homozygotec.3883_3886del - p.(Ile1295Phefs*32) - Trans
CF 211homozygotec.3623del - p.(Gly1208Alafs*3) - Trans
CF 1128homozygotec.2002C>T - p.(Arg668Cys) - Trans
c.3140-26A>G - p.(=) - Trans
c.445G>A - p.(Gly149Arg) - Trans
CF 1116homozygotec.1000C>T - p.(Arg334Trp) - Trans
CF 1236homozygotec.1545_1546del - p.(Tyr515*) - Trans
c.2051_2052delinsG - p.(Lys684Serfs*38) - Trans
CF 26homozygotec.3846G>A - p.(Trp1282*) - Trans
CF 204homozygotec.3285A>T - p.(=) - Trans
c.54-5811_164+2186delins182 - p.? - Trans
c.658C>T - p.(Gln220*) - Trans
CF 1036homozygotec.254G>A - p.(Gly85Glu) - Trans
c.489+1G>T - p.(=) - Trans
CF 28homozygotec.3846G>A - p.(Trp1282*) - Trans
CF 1257homozygotec.2T>C - p.? - Trans
CF 1247homozygotec.1517T>C - p.(Ile506Thr) - Trans
CF 126homozygotec.11C>A - p.(Ser4*) - Trans
c.2657+5G>A - p.(=) - Trans
CF 176homozygotec.2051_2052del - p.(Lys684Thrfs*4) - Trans
c.2988+1G>A - p.(=) - Trans
CF 1171homozygotec.2052dup - p.(Gln685Thrfs*4) - Trans
c.2657+5G>A - p.(=) - Trans
CF 1169homozygotec.3718-2477C>T - p.(=) - Trans
CF 156homozygotec.2657+5G>A - p.(=) - Trans
c.2997_3000del - p.(Ile1000*) - Trans
CF 153homozygotec.1519_1521del - p.(Ile507del) - Trans
c.861_865del - p.(Asn287Lysfs*19) - Trans
CF 149homozygotec.3964-3C>G - p.(=) - Trans
CF 147homozygotec.1585-8G>A - p.(=) - Trans
c.3276C>A - p.(Tyr1092*) - Trans
CF 146homozygotec.1585-8G>A - p.(=) - Trans
c.3276C>A - p.(Tyr1092*) - Trans
CF 136homozygotec.3846G>A - p.(Trp1282*) - Trans
CF 196homozygotec.1680-886A>G - p.(=) - Trans
c.2051_2052delinsG - p.(Lys684Serfs*38) - Trans
CF 129homozygotec.3883_3886del - p.(Ile1295Phefs*32) - Trans
CF 1231homozygotec.1585-1G>A - p.(=) - Trans
c.3873+1G>A - p.(=) - Trans
CF 4786homozygotec.1680-886A>G - p.(=) - Trans
c.2051_2052delinsG - p.(Lys684Serfs*38) - Trans
CF 4486homozygotec.1624G>T - p.(Gly542*) - Trans
c.4300_4301dup - p.(Ser1435Glyfs*14) - Trans
CF 1126homozygotec.3189G>A - p.(Trp1063*) - Trans
CF 1164homozygotec.1652G>A - p.(Gly551Asp) - Trans
c.54-5940_273+10250del - p.(Ser18Argfs*16) - Trans
CF 180homozygotec.3468G>A - p.(=) - Trans
c.579+1G>T - p.(=) - Trans
CF 4463homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2657+5G>A - p.(=) - Trans
CF 179homozygotec.2583del - p.(Phe861Leufs*3) - Trans
CF 1072homozygotec.1471T>C - p.(Cys491Arg) - Trans
CF 371homozygotec.2128A>T - p.(Lys710*) - Trans
c.948del - p.(Phe316Leufs*12) - Trans
CF 579homozygotec.3454G>C - p.(Asp1152His) - Trans
c.3846G>A - p.(Trp1282*) - Trans
CF 1919homozygotec.1210-6T>A - p.(=) - Trans
c.2988+1G>A - p.(=) - Trans
c.3196C>T - p.(Arg1066Cys) - Trans
CF 354homozygotec.3310G>T - p.(Glu1104*) - Trans
CF 348homozygotec.1585-1G>A - p.(=) - Trans
c.2583del - p.(Phe861Leufs*3) - Trans
CF 327homozygotec.1585-1G>A - p.(=) - Trans
c.2988+1G>A - p.(=) - Trans
CF 379homozygotec.2051_2052delinsG - p.(Lys684Serfs*38) - Trans
c.658C>T - p.(Gln220*) - Trans
CF 488homozygotec.3196C>T - p.(Arg1066Cys) - Trans
c.3454G>C - p.(Asp1152His) - Trans
CF 2375homozygotec.2989-449_3468+644del - p.(Leu997_Leu1156del) - Trans
CF 324homozygotec.580-1G>T - p.(=) - Trans
CF 322homozygotec.1986_1989del - p.(Thr663Argfs*8) - Trans
c.2706C>G - p.(Ser902Arg) - Trans
CF 617homozygotec.1680-886A>G - p.(=) - Trans
c.2657+5G>A - p.(=) - Trans
CF 247homozygotec.1501A>G - p.(Thr501Ala) - Trans
c.1680-886A>G - p.(=) - Trans
CF 869homozygotec.1680-886A>G - p.(=) - Trans
c.3909C>G - p.(Asn1303Lys) - Trans
CF 896homozygotec.2374C>T - p.(Arg792*) - Trans
c.489+2T>G - p.(=) - Trans
CF 230homozygotec.1657C>T - p.(Arg553*) - Trans
c.2502dup - p.(Asp835*) - Trans
CF 213homozygotec.2051_2052delinsG - p.(Lys684Serfs*38) - Trans
CF 267homozygotec.1657C>T - p.(Arg553*) - Trans
c.254G>A - p.(Gly85Glu) - Trans
CF 3171homozygotec.3472C>T - p.(Arg1158*) - Trans
c.3484C>T - p.(Arg1162*) - Trans
CF 631homozygotec.2502del - p.(Phe834Leufs*10) - Trans
c.3846G>A - p.(Trp1282*) - Trans
CF 305homozygotec.1585-1G>A - p.(=) - Trans
c.772A>G - p.(Arg258Gly) - Trans
CF 3228homozygotec.1657C>T - p.(Arg553*) - Trans
c.3718-2477C>T - p.(=) - Trans
CF 299homozygotec.178G>A - p.(Glu60Lys) - Trans
c.2658-1G>C - p.(=) - Trans
CF 286homozygotec.579+1G>T - p.(=) - Trans
CF 284homozygotec.3140-26A>G - p.(=) - Trans
c.494T>C - p.(Leu165Ser) - Trans
CF 5069homozygotec.1393-1G>A - p.(=) - Trans
c.1680-981T>C - p.(=) - Trans
c.3874-4522A>G - p.(=) - Trans
CF 210homozygotec.2051_2052delinsG - p.(Lys684Serfs*38) - Trans
c.54-5940_273+10250del - p.(Ser18Argfs*16) - Trans
Pending (NBS) 2212heterozygotevarying clinical consequence - Trans
CFTR-RD-causing- Undef
Pending (NBS) 2877heterozygoteCFTR-RD-causing - Cis
Pending (NBS) 1513heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Pending (NBS) 1514heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Pending (NBS) 3775heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Pending (NBS) 3787heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Pending (NBS) 3905heterozygoteCFTR-RD-causing - Cis
CF-causing- Undef
Pending (NBS) 3909heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 4010heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 4019heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 4030heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Pending (NBS) 4119heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Pending (NBS) 4146heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 4159heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Pending (NBS) 4182heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Pending (NBS) 3773heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 5573heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 3437heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Pending (NBS) 3458heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Pending (NBS) 3477heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 3504heterozygoteCFTR-RD-causing - Cis
CF-causing- Undef
Pending (NBS) 3579heterozygoteCF-causing - Cis
CFTR-RD-causing- Undef
Pending (NBS) 3590heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 4263heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 4549heterozygoteCF-causing- Undef
VUS3- Undef
Pending (NBS) 3011heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 387heterozygoteCF-causing- Undef
VUS3- Undef
Pending (NBS) 52heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Pending (NBS) 4787heterozygotevarying clinical consequence - Cis
CF-causing - Trans
VUS3- Undef
Pending (NBS) 726heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Pending (NBS) 644heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 1064heterozygoteCF-causing - Cis
varying clinical consequence - Trans
Pending (NBS) 785heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Pending (NBS) 1295homozygotec.287C>A - p.(Ala96Glu) - Trans
Pending (NBS) 5570homozygotec.1657C>T - p.(Arg553*) - Trans
c.350G>A - p.(Arg117His) - Trans
Pending (NBS) 4113homozygotec.2051_2052delinsG - p.(Lys684Serfs*38) - Trans
c.350G>A - p.(Arg117His) - Trans
Pending (NBS) 4420homozygotec.2002C>T - p.(Arg668Cys) - Trans
c.350G>A - p.(Arg117His) - Trans
Pending (NBS) 566homozygotec.350G>A - p.(Arg117His) - Trans
Pending (NBS) 2183homozygotec.350G>A - p.(Arg117His) - Trans
c.366T>A - p.(Tyr122*) - Trans
Pending (NBS) 1307homozygotec.1769G>A - p.(Cys590Tyr) - Trans
c.3889dup - p.(Ser1297Phefs*5) - Trans
Pending (NBS) 3135homozygotec.1000C>T - p.(Arg334Trp) - Trans
c.350G>A - p.(Arg117His) - Trans
Other 186heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Other 547heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Other 752heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Other 983heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Other 4770heterozygoteVUS1 - Cis
CF-causing - Trans
Other 4783heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Other 4798heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Other 4799heterozygoteCF-causing- Undef
varying clinical consequence- Undef
VUS3- Undef
Other 4792heterozygoteVUS1 - Cis
CF-causing - Trans
Other 1061heterozygoteVUS2- Undef
Other 1062heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Other 1073heterozygotevarying clinical consequence - Trans
CF-causing- Undef
Other 1082heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Other 1098heterozygotevarying clinical consequence - Cis
CF-causing - Trans
Other 1113heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
VUS1- Undef
Other 1124heterozygotevarying clinical consequence- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Other 1134heterozygotevarying clinical consequence - Trans
CF-causing- Undef
Other 1141heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Other 1184heterozygotevarying clinical consequence - Trans
CFTR-RD-causing- Undef
Other 1185heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Other 1283heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Other 2874heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Other 3076heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Other 3246heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Other 3247heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Other 3397heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Other 5567heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Other 4293heterozygote
Other 4812heterozygoteCF-causing- Undef
VUS3- Undef
Other 4813heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Other 4520heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Other 4547heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Other 315homozygotec.3454G>C - p.(Asp1152His) - Trans
c.346G>A - p.(Glu116Lys) - Trans
Other 2829homozygotec.2488A>T - p.(Lys830*) - Trans
c.350G>A - p.(Arg117His) - Trans
Other 2834homozygotec.1657C>T - p.(Arg553*) - Trans
c.350G>A - p.(Arg117His) - Trans
Other 2906homozygotec.3140-26A>G - p.(=) - Trans
c.350G>A - p.(Arg117His) - Trans
Other 3141homozygotec.1657C>T - p.(Arg553*) - Trans
c.350G>A - p.(Arg117His) - Trans
Other 3167homozygotec.2051_2052delinsG - p.(Lys684Serfs*38) - Trans
c.350G>A - p.(Arg117His) - Trans
Other 4262homozygotec.2002C>T - p.(Arg668Cys) - Trans
c.3745G>A - p.(Gly1249Arg) - Trans
Other 4458homozygotec.1652G>A - p.(Gly551Asp) - Trans
c.2002C>T - p.(Arg668Cys) - Trans
CRS-NP 3088heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CRS-NP 295homozygotec.254G>A - p.(Gly85Glu) - Trans
c.481T>A - p.(Tyr161Asn) - Trans
CRS-NP 3098homozygote
CRS-NP 3234homozygote
CRS-NP 3268homozygote
Asymptomatic compound heterozygote 768heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Asymptomatic compound heterozygote 1529heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Asymptomatic compound heterozygote 2383heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Asymptomatic compound heterozygote 2956heterozygoteCF-causing - Trans
Asymptomatic compound heterozygote 3019heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Asymptomatic compound heterozygote 3032heterozygoteCF-causing - Trans
Asymptomatic compound heterozygote 5333heterozygoteCFTR-RD-causing - Cis
non-CF - Trans
Asymptomatic compound heterozygote 4523heterozygoteCFTR-RD-causing - Cis
varying clinical consequence - Trans
Asymptomatic compound heterozygote 540homozygotec.1545_1546del - p.(Tyr515*) - Trans
c.349C>T - p.(Arg117Cys) - Trans
Asymptomatic compound heterozygote 2808homozygotec.2002C>T - p.(Arg668Cys) - Trans
c.3454G>C - p.(Asp1152His) - Trans
Asymptomatic compound heterozygote 2863homozygotec.1585-1G>A - p.(=) - Trans
Asymptomatic compound heterozygote 2928homozygotec.3485G>T - p.(Arg1162Leu) - Trans
Asymptomatic compound heterozygote 5308homozygote
Asymptomatic compound heterozygote 4422homozygotec.1064C>T - p.(Pro355Leu) - Trans
c.1327G>T - p.(Asp443Tyr) - Trans
c.2002C>T - p.(Arg668Cys) - Trans
Asymptomatic compound heterozygote 4517homozygotec.220C>T - p.(Arg74Trp) - Trans
c.3808G>A - p.(Asp1270Asn) - Trans
Asymptomatic compound heterozygote 4522homozygotec.1040G>T - p.(Arg347Leu) - Trans
c.2699A>C - p.(Asn900Thr) - Trans
Asymptomatic compound heterozygote 4526homozygotec.1270G>A - p.(Gly424Ser) - Trans
Fetal bowel anomalies 1234heterozygoteCF-causing - Cis
CF-causing - Trans
Fetal bowel anomalies 1245heterozygoteCF-causing - Cis
CF-causing - Trans
Fetal bowel anomalies 1302heterozygoteCF-causing - Cis
CF-causing - Trans
Fetal bowel anomalies 1436heterozygoteCF-causing - Cis
CF-causing - Trans
Fetal bowel anomalies 1565heterozygoteCF-causing - Cis
CF-causing - Trans
Fetal bowel anomalies 545homozygotec.349C>T - p.(Arg117Cys) - Trans
Fetal bowel anomalies 621homozygotec.350G>A - p.(Arg117His) - Trans
Bronchiectasis 560heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Bronchiectasis 1088heterozygotevarying clinical consequence - Cis
CF-causing - Trans
Bronchiectasis 1090heterozygoteCF-causing- Undef
VUS1- Undef
varying clinical consequence- Undef
Bronchiectasis 1117heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Bronchiectasis 1120heterozygotevarying clinical consequence - Trans
Bronchiectasis 1197heterozygoteCF-causing- Undef
Bronchiectasis 4857heterozygoteCF-causing- Undef
CF-causing- Undef
Bronchiectasis 3213heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
varying clinical consequence- Undef
Bronchiectasis 3240heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Bronchiectasis 3269heterozygoteCF-causing- Undef
Bronchiectasis 1110homozygotec.1495C>T - p.(Pro499Ser) - Trans
Bronchiectasis 1118homozygotec.1585-1G>A - p.(=) - Trans
c.2051_2052delinsG - p.(Lys684Serfs*38) - Trans
Bronchiectasis 2280homozygotec.350G>A - p.(Arg117His) - Trans
c.366T>A - p.(Tyr122*) - Trans
Bronchiectasis 2344homozygotec.350G>A - p.(Arg117His) - Trans
Bronchiectasis 2960homozygotec.350G>A - p.(Arg117His) - Trans
Pancreatitis 2441heterozygotevarying clinical consequence - Trans
CFTR-RD-causing- Undef
Pancreatitis 2652heterozygotevarying clinical consequence - Trans
Pancreatitis 1656heterozygotevarying clinical consequence - Trans
Pancreatitis 2907heterozygoteCFTR-RD-causing- Undef
Pancreatitis 2748heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Pancreatitis 2785heterozygoteCFTR-RD-causing- Undef
Pancreatitis 2786heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pancreatitis 5154heterozygoteCFTR-RD-causing - Cis
CFTR-RD-causing- Undef
Pancreatitis 4815heterozygoteCF-causing- Undef
CF-causing- Undef
Pancreatitis 3221heterozygote
Pancreatitis 3245heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pancreatitis 3072heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Pancreatitis 3312heterozygoteCFTR-RD-causing- Undef
Pancreatitis 669heterozygoteCF-causing- Undef
Pancreatitis 2978homozygotec.2249C>T - p.(Pro750Leu) - Trans
Pancreatitis 1961homozygotec.350G>A - p.(Arg117His) - Trans
Pancreatitis 3315homozygotec.220C>T - p.(Arg74Trp) - Trans
c.3628A>G - p.(Met1210Val) - Trans
c.3808G>A - p.(Asp1270Asn) - Trans
Pancreatitis 3163homozygotec.166G>A - p.(Glu56Lys) - Trans
c.350G>A - p.(Arg117His) - Trans
Pending 1586heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Pending 2428heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending 2805heterozygotevarying clinical consequence - Trans
Pending 3049heterozygoteCF-causing- Undef
VUS3- Undef
Pending 1075homozygotec.489+1G>T - p.(=) - Trans
Pending 3089homozygotec.91C>T - p.(Arg31Cys) - Trans
Pending non-CF 4515heterozygotevarying clinical consequence- Undef
varying clinical consequence- Undef
Pending non-CF 3094homozygotec.350G>A - p.(Arg117His) - Trans
c.3718-2477C>T - p.(=) - 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.



Go to CFTRare