Variant NM_000492.4:c.1210-12T[9]


Variant details:
Name NM_000492.4:c.1210-12T[9]
#Exon/intron intron 9
Legacy Name poly-T tract variations ; 1342-13G/T
Class non disease-causing

Other databases:
1361
919
 dbSNP
no rs








Pathogenicity predictors:

Not found
Not found





No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 479
Asymptomatic compound heterozygote 8
CF 247
CFTR-RD183
  • Bronchiectasis  14
  • CBAVD  122
  • CRS-NP  2
  • Other  30
  • Pancreatitis  15
Fetal bowel anomalies 8
Pending 5
Pending (NBS) 27
Pending non-CF 1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 2644heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1932heterozygoteCF-causing- Undef
CF-causing- Undef
CF 2182heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CF 2763heterozygoteCF-causing- Undef
CF-causing- Undef
CF 2898heterozygoteCF-causing- Undef
CF-causing- Undef
VUS3- Undef
CF 2962heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 2883heterozygoteCF-causing - Cis
CF-causing - Trans
CF 2880heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CF 2797heterozygoteCF-causing- Undef
CF-causing- Undef
CF 2830heterozygoteCF-causing- Undef
CF-causing- Undef
CF 2879heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 3070heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1152heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1153heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1157heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1166heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1172heterozygoteCF-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 1151heterozygoteCF-causing- Undef
VUS3- Undef
CF 1148heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1085heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1086heterozygoteCF-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 1233heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CF 1241heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1525heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1531heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1533heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1545heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CF 1578heterozygoteCF-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 - Cis
varying clinical consequence- Undef
CF 4860heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 4230heterozygoteCF-causing- Undef
CF-causing- Undef
VUS2- Undef
CF 5571heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CF 3674heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4297heterozygoteCF-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 4494heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4493heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4439heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4480heterozygoteCF-causing- Undef
VUS2- Undef
CF 4483heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 4485heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 3275heterozygoteCF-causing- Undef
CF-causing- Undef
VUS3- Undef
CF 3243heterozygoteCF-causing - Cis
CF-causing - Trans
CF 3116heterozygoteCF-causing- Undef
CF-causing- Undef
CF 3132heterozygoteCF-causing- Undef
CF-causing- Undef
CF 3152heterozygoteCF-causing- Undef
CF-causing- Undef
CF 3154heterozygoteCF-causing- Undef
CF-causing- Undef
CF 3169heterozygoteCF-causing- Undef
CF-causing- Undef
CF 359heterozygoteCF-causing- Undef
CF-causing- Undef
VUS3- Undef
CF 200heterozygoteCF-causing - Cis
CF-causing - Trans
CF 199heterozygoteCF-causing- Undef
CF-causing- Undef
CF 198heterozygoteCF-causing- Undef
CF-causing- Undef
CF 197heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 361heterozygoteCF-causing- Undef
CF-causing- Undef
CF 201heterozygoteCF-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 383heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CF-causing - Trans
CF 559heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 561heterozygoteCF-causing- Undef
CF-causing- Undef
CF 567heterozygoteCF-causing- Undef
CF-causing- Undef
CF 193heterozygoteCF-causing- Undef
CF-causing- Undef
CF 576heterozygoteCF-causing- Undef
CF-causing- Undef
CF 582heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CF 586heterozygoteCF-causing- Undef
CF-causing- Undef
CF 276heterozygoteCF-causing- Undef
CF-causing- Undef
CF 195heterozygoteCF-causing- Undef
VUS3- Undef
CF-causing- Undef
CF 194heterozygoteCF-causing- Undef
CF-causing- Undef
CF 202heterozygoteCF-causing- Undef
VUS3- Undef
CF-causing- Undef
CF 227heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CF 248heterozygoteCF-causing- Undef
CF-causing- Undef
CF 223heterozygoteCF-causing- Undef
CF-causing- Undef
CF 222heterozygoteCF-causing- Undef
CF-causing- Undef
CF 221heterozygoteCF-causing- Undef
CF-causing- Undef
CF 249heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 220heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 251heterozygoteCF-causing- Undef
CF-causing- Undef
CF 218heterozygoteCF-causing- Undef
CF-causing- Undef
CF 257heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CF 259heterozygoteCF-causing- Undef
CF-causing- Undef
CF 245heterozygoteCF-causing- Undef
VUS1- Undef
VUS3- Undef
CF-causing- Undef
CF 244heterozygoteCF-causing- Undef
CF-causing- Undef
CF 228heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CF 229heterozygoteCF-causing- Undef
CF-causing- Undef
CF 232heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 233heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 234heterozygoteCF-causing- Undef
CF-causing- Undef
CF 236heterozygoteCF-causing- Undef
CF-causing- Undef
CF 238heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 225heterozygoteCF-causing- Undef
likely CF- Undef
CF 240heterozygoteCF-causing- Undef
CF-causing- Undef
CF 261heterozygoteCF-causing- Undef
CF-causing- Undef
CF 262heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 208heterozygoteCF-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 207heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 340heterozygoteVUS1- Undef
CF-causing- Undef
CF-causing- Undef
CF 341heterozygoteCF-causing- Undef
CF-causing- Undef
CF 203heterozygoteCF-causing- Undef
CF-causing- Undef
CF 350heterozygoteCF-causing- Undef
CF-causing- Undef
CF 320heterozygoteCF-causing- Undef
CF-causing- Undef
CF 309heterozygoteCF-causing - Cis
CF-causing - Trans
CF 264heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 265heterozygoteCF-causing- Undef
CF-causing- Undef
CF 215heterozygoteCF-causing- Undef
VUS3- Undef
CF 212heterozygoteCF-causing- Undef
CF-causing- Undef
CF 266heterozygoteCF-causing- Undef
CF-causing- Undef
CF 209heterozygoteCF-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 351heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 190heterozygoteCF-causing- Undef
CF-causing- Undef
CF 997heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CF 1026heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4775heterozygoteCF-causing- Undef
CF-causing- Undef
CF 143heterozygoteCF-causing- Undef
CF-causing- Undef
CF 133heterozygoteCF-causing - Cis
CF-causing - Trans
CF 132heterozygoteCF-causing- Undef
VUS3- Undef
CF-causing- Undef
CF 4784heterozygoteCF-causing- Undef
CF-causing- Undef
CF 151heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1022heterozygoteCF-causing - 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 160heterozygoteCF-causing- Undef
CF-causing- Undef
CF 159heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CF 4776heterozygotevarying clinical consequence - Cis
varying clinical consequence - Trans
CF 158heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1018heterozygoteCF-causing- Undef
VUS3- Undef
CF 131heterozygoteVUS3- Undef
CF-causing- Undef
CF-causing- Undef
CF 4788heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CF 47heterozygoteCF-causing- Undef
CF-causing- Undef
VUS3- Undef
CF 5185heterozygoteCF-causing- Undef
CF-causing- Undef
VUS3- Undef
CF 5186heterozygoteCF-causing- Undef
varying clinical consequence- Undef
VUS3- Undef
CF 4797heterozygoteCF-causing - Cis
CF-causing - Trans
CF 92heterozygoteCF-causing - Cis
CF-causing - Trans
CF 4790heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CF 4793heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4796heterozygoteCF-causing - Cis
CF-causing - Trans
VUS3- Undef
VUS3- Undef
varying clinical consequence- Undef
CF 107heterozygoteCF-causing - Cis
CF-causing - Trans
CF 94heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1010heterozygoteCF-causing - Cis
CF-causing - Trans
CF 188heterozygoteCF-causing- Undef
likely CF- Undef
CF 745heterozygoteCF-causing- Undef
CF-causing- Undef
CF 178heterozygoteCF-causing- Undef
CF-causing- Undef
VUS3- Undef
VUS1- Undef
CF 177heterozygoteCF-causing- Undef
CF-causing- Undef
CF 596heterozygoteCF-causing- Undef
CF-causing- Undef
CF 597heterozygoteCF-causing- Undef
CF-causing- Undef
CF 600heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 601heterozygoteCF-causing- Undef
CF-causing- Undef
CF 187heterozygoteCF-causing- Undef
VUS3- Undef
CF-causing- Undef
CF 620heterozygoteCF-causing- Undef
CF-causing- Undef
CF 637heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 174heterozygoteCF-causing- Undef
CF-causing- Undef
CF 846heterozygoteCF-causing - Cis
CF-causing - Trans
CF 936heterozygoteCF-causing - Cis
CF-causing - Trans
CF 955heterozygoteCF-causing - Cis
CF-causing - Trans
CF 788heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 168heterozygoteCF-causing- Undef
CF 848heterozygoteCF-causing - Cis
CF-causing - Trans
CF 985heterozygoteCF-causing - Cis
CF-causing - Trans
CF 994heterozygoteCF-causing - Cis
CF-causing - Trans
CF 161heterozygoteCF-causing- Undef
CF-causing- Undef
CF 169heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 181heterozygoteCF-causing- Undef
CF-causing- Undef
CF 173heterozygoteCF-causing- Undef
CF-causing- Undef
CF 594heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 4417homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3611G>A - p.(Trp1204*) - Trans
CF 4390homozygotec.3909C>G - p.(Asn1303Lys) - Trans
c.617T>G - p.(Leu206Trp) - Trans
CF 34homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 155homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 4481homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2490+1G>A - p.(=) - Trans
CF 226homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 170homozygotec.1521_1523del - p.(Phe508del) - Trans
c.580-1G>T - p.(=) - Trans
CF 127homozygotec.3909C>G - p.(Asn1303Lys) - Trans
CF 144homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 3969homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2988+1173_3468+2111del - p.(Leu997_Leu1156del) - Trans
CF 217homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3400_3401delinsGTA - p.(Thr1134Valfs*22) - Trans
CF 171homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3140-26A>G - p.(=) - Trans
CF 4465homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3067_3072del - p.(Ile1023_Val1024del) - Trans
CF 120homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3909C>G - p.(Asn1303Lys) - Trans
CF 116homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 4512homozygotec.3909C>G - p.(Asn1303Lys) - Trans
CF 49homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 4779homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 1229homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 4772homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 4771homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 1275homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 1282homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 995homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3080T>C - p.(Ile1027Thr) - Trans
CF 1523homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 860homozygotec.1521_1523del - p.(Phe508del) - Trans
c.1624G>T - p.(Gly542*) - Trans
c.3080T>C - p.(Ile1027Thr) - Trans
CF 822homozygotec.1521_1523del - p.(Phe508del) - Trans
c.617T>G - p.(Leu206Trp) - Trans
CF 1179homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 1176homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 1093homozygotec.1364C>A - p.(Ala455Glu) - Trans
c.1521_1523del - p.(Phe508del) - Trans
CF 1100homozygotec.1364C>A - p.(Ala455Glu) - Trans
c.1521_1523del - p.(Phe508del) - Trans
CF 1122homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 1131homozygotec.1624G>T - p.(Gly542*) - Trans
c.3909C>G - p.(Asn1303Lys) - Trans
CF 1135homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 1143homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 1147homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 1162homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 1167homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 1175homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 1548homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 1552homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 1553homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3067_3072del - p.(Ile1023_Val1024del) - Trans
CF 339homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 3287homozygotec.1040G>A - p.(Arg347His) - Trans
c.1521_1523del - p.(Phe508del) - Trans
CF 260homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 256homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 250homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 3345homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 239homozygotec.1521_1523del - p.(Phe508del) - Trans
c.1624G>T - p.(Gly542*) - Trans
CF 3120homozygotec.1652G>A - p.(Gly551Asp) - Trans
c.4426C>T - p.(Gln1476*) - Trans
CF 2996homozygotec.1364C>A - p.(Ala455Glu) - Trans
c.1521_1523del - p.(Phe508del) - Trans
CF 1183homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 1582homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 719homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 638homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 611homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2538G>A - p.(Trp846*) - Trans
CF 595homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 568homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2770G>A - p.(Asp924Asn) - Trans
CF 4homozygotec.1521_1523del - p.(Phe508del) - Trans
Pending (NBS) 3011heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 1514heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pending (NBS) 1513heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pending (NBS) 4019heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 4146heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 4263heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 4010heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 3909heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 3437heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pending (NBS) 3579heterozygoteCF-causing - Trans
CFTR-RD-causing- Undef
Pending (NBS) 3590heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 3773heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 4409heterozygoteCF-causing - Cis
VUS3 - Trans
non-CF - Trans
Pending (NBS) 4549heterozygoteCF-causing- Undef
VUS3- Undef
Pending (NBS) 387heterozygoteCF-causing- Undef
VUS3- Undef
Pending (NBS) 4787heterozygoteCF-causing - Cis
varying clinical consequence - Trans
VUS3- Undef
Pending (NBS) 52heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pending (NBS) 1064heterozygotevarying clinical consequence - Cis
CF-causing - Trans
Pending (NBS) 726heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Pending (NBS) 644heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 785heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pending (NBS) 4407homozygotec.1521_1523del - p.(Phe508del) - Trans
c.617T>G - p.(Leu206Trp) - Trans
Pending (NBS) 1076homozygotec.1521_1523del - p.(Phe508del) - Trans
c.617T>G - p.(Leu206Trp) - Trans
Pending (NBS) 5183homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2991G>C - p.(Leu997Phe) - Trans
c.54-589A>G - p.(=) - Trans
Pending (NBS) 352homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2991G>C - p.(Leu997Phe) - Trans
Pending (NBS) 590homozygotec.1521_1523del - p.(Phe508del) - Trans
c.617T>G - p.(Leu206Trp) - Trans
Pending (NBS) 2895homozygotec.1040G>A - p.(Arg347His) - Trans
c.1521_1523del - p.(Phe508del) - Trans
CBAVD 1893heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 2681heterozygoteCF-causing- Undef
non-CF- Undef
CBAVD 2689heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 2693heterozygoteCF-causing- Undef
VUS3- Undef
CFTR-RD-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 1968heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 2004heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 2014heterozygotevarying clinical consequence - Trans
CF-causing- Undef
CBAVD 2025heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 2032heterozygotevarying clinical consequence - Trans
CF-causing- Undef
CBAVD 2263heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 2759heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 2989heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 2991heterozygoteCF-causing- Undef
CBAVD 2803heterozygoteCF-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 2853heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CFTR-RD-causing - Trans
CBAVD 1864heterozygotevarying clinical consequence - Trans
CF-causing- Undef
CBAVD 1796heterozygotevarying clinical consequence - Trans
CF-causing- Undef
CBAVD 1268heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 1798heterozygotevarying clinical consequence - Trans
CF-causing- Undef
CBAVD 4223heterozygotevarying clinical consequence - Trans
CF-causing- Undef
CBAVD 4238heterozygoteCF-causing- Undef
likely CFTR-RD- Undef
CBAVD 4239heterozygoteCF-causing- Undef
likely CFTR-RD- Undef
CBAVD 4264heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4291heterozygoteVUS3- Undef
CBAVD 3414heterozygotevarying clinical consequence- Undef
varying clinical consequence- Undef
CBAVD 3415heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3416heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 5565heterozygotevarying clinical consequence- Undef
CFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 4310heterozygoteCF-causing- Undef
CBAVD 4503heterozygoteCF-causing- Undef
VUS2- Undef
CBAVD 4524heterozygoteCF-causing- Undef
likely CFTR-RD- Undef
CBAVD 4531heterozygoteCF-causing- Undef
CBAVD 4543heterozygotevarying clinical consequence - Trans
VUS3- Undef
CBAVD 4414heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4419heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 3396heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3265heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3266heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3270heterozygotevarying clinical consequence - Trans
CF-causing- Undef
CBAVD 3273heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3280heterozygotevarying clinical consequence - Trans
CF-causing- Undef
CBAVD 3281heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 3100heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3241heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3314heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3316heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 3322heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 3370heterozygoteCF-causing- Undef
likely CFTR-RD- 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 3364heterozygoteCF-causing- Undef
CBAVD 3362heterozygoteCF-causing- Undef
CFTR-RD-causing- 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 3353heterozygoteCFTR-RD-causing - Trans
varying clinical consequence- 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 3395heterozygoteCF-causing- Undef
non-CF- Undef
CBAVD 412heterozygoteCF-causing - Cis
likely CFTR-RD - Trans
CBAVD 425heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 432heterozygoteCF-causing- Undef
CBAVD 468heterozygoteCF-causing- Undef
CBAVD 469heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 477heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 407heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 400heterozygoteCF-causing - Cis
varying clinical consequence - Trans
non-CF- Undef
CBAVD 482heterozygoteCFTR-RD-causing- Undef
CBAVD 483heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 555heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 553heterozygoteCF-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 515heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 541heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 544heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 589heterozygotevarying clinical consequence - Trans
CF-causing- Undef
CBAVD 447heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 411heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 65heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 1066heterozygotevarying clinical consequence - Trans
CF-causing- Undef
CBAVD 1052heterozygotevarying clinical consequence - Trans
varying clinical consequence- Undef
CBAVD 687heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 712heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 774heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 679heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 678heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 2704homozygotec.1521_1523del - p.(Phe508del) - Trans
CBAVD 3305homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2552G>T - p.(Arg851Leu) - Trans
CBAVD 3346homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2723C>A - p.(Thr908Asn) - Trans
CBAVD 3351homozygotec.1521_1523del - p.(Phe508del) - Trans
c.349C>T - p.(Arg117Cys) - Trans
CBAVD 2817homozygotec.1521_1523del - p.(Phe508del) - Trans
c.617T>G - p.(Leu206Trp) - Trans
CBAVD 4634homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2758G>A - p.(Val920Met) - Trans
CBAVD 422homozygotec.1521_1523del - p.(Phe508del) - Trans
c.617T>G - p.(Leu206Trp) - Trans
CBAVD 3366homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2991G>C - p.(Leu997Phe) - Trans
Other 2952heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Other 2874heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Other 1082heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Other 1185heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Other 1098heterozygoteCF-causing - Cis
varying clinical consequence - Trans
Other 1113heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
VUS1- Undef
Other 1141heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Other 1283heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Other 3397heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Other 4293heterozygote
Other 5567heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Other 4520heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Other 4547heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Other 4812heterozygoteCF-causing- Undef
VUS3- Undef
Other 4813heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Other 3076heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Other 3246heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Other 3247heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Other 547heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Other 4770heterozygoteCF-causing - Cis
VUS1 - Trans
Other 1062heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Other 1061heterozygoteVUS2- Undef
Other 4799heterozygoteCF-causing- Undef
varying clinical consequence- Undef
VUS3- Undef
Other 4792heterozygoteCF-causing - Cis
VUS1 - Trans
Other 752heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Other 186heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Other 983heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Other 4783homozygotec.579+1G>T - p.(=) - Trans
c.617T>G - p.(Leu206Trp) - Trans
Other 5184homozygotec.*1251C>T - p.(=) - Trans
c.1521_1523del - p.(Phe508del) - Trans
c.54-589A>G - p.(=) - Trans
c.617T>G - p.(Leu206Trp) - Trans
Other 4800homozygotec.*1251C>T - p.(=) - Trans
c.1521_1523del - p.(Phe508del) - Trans
c.54-589A>G - p.(=) - Trans
c.617T>G - p.(Leu206Trp) - Trans
Bronchiectasis 560heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Bronchiectasis 1088heterozygoteCF-causing - Cis
varying clinical consequence - Trans
Bronchiectasis 1090heterozygoteCF-causing- Undef
VUS1- Undef
varying clinical consequence- Undef
Bronchiectasis 1117heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Bronchiectasis 1197heterozygoteCF-causing- Undef
Bronchiectasis 4857heterozygoteCF-causing- Undef
CF-causing- Undef
Bronchiectasis 4866heterozygoteCF-causing- Undef
CFTR-RD-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 4474heterozygotevarying clinical consequence - Trans
Bronchiectasis 962homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3322G>C - p.(Val1108Leu) - Trans
c.617T>G - p.(Leu206Trp) - Trans
Bronchiectasis 1078homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3718-2477C>T - p.(=) - Trans
Bronchiectasis 4488homozygotec.617T>G - p.(Leu206Trp) - Trans
Pancreatitis 2748heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Pancreatitis 2000heterozygotevarying clinical consequence - Trans
CF-causing- Undef
Pancreatitis 2785heterozygoteCFTR-RD-causing- Undef
Pancreatitis 2907heterozygoteCFTR-RD-causing- Undef
Pancreatitis 2786heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pancreatitis 1597heterozygotevarying clinical consequence - Trans
CF-causing- Undef
Pancreatitis 3072heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Pancreatitis 4299heterozygotevarying clinical consequence - Trans
CF-causing- Undef
Pancreatitis 4815heterozygoteCF-causing- Undef
CF-causing- Undef
Pancreatitis 3312heterozygoteCFTR-RD-causing- Undef
Pancreatitis 3245heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Pancreatitis 3221heterozygote
Pancreatitis 669heterozygoteCF-causing- Undef
Pancreatitis 4635homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2758G>A - p.(Val920Met) - Trans
Pancreatitis 3253homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3205G>A - p.(Gly1069Arg) - Trans
Asymptomatic compound heterozygote 768heterozygoteCF-causing - Cis
CFTR-RD-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 - Cis
Asymptomatic compound heterozygote 3019heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Asymptomatic compound heterozygote 3032heterozygoteCF-causing - Cis
Asymptomatic compound heterozygote 4235heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Asymptomatic compound heterozygote 4523heterozygotevarying clinical consequence - Cis
CFTR-RD-causing - Trans
CRS-NP 3088heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CRS-NP 1220homozygotec.1364C>A - p.(Ala455Glu) - Trans
c.1521_1523del - p.(Phe508del) - 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 1286homozygotec.1521_1523del - p.(Phe508del) - Trans
c.1624G>T - p.(Gly542*) - Trans
Fetal bowel anomalies 1292homozygotec.1521_1523del - p.(Phe508del) - Trans
Fetal bowel anomalies 1564homozygotec.1521_1523del - p.(Phe508del) - Trans
Pending 1586heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Pending 2174heterozygoteCF-causing - Cis
varying clinical consequence - Trans
Pending 2428heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending 3049heterozygoteCF-causing- Undef
VUS3- Undef
Pending 1786homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3080T>C - p.(Ile1027Thr) - Trans
Pending non-CF 4515heterozygotevarying clinical consequence- Undef
varying clinical consequence- Undef


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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