Variant NM_000492.4:c.1210-34_1210-6TG[10]T[9]


Variant details:
Name NM_000492.4:c.1210-34_1210-6TG[10]T[9]
#Exon/intron intron 9
Legacy Name TG10T9
Class non disease-causing

Other databases:

Not found
Not found		dbSNP
no rs








Pathogenicity predictors:

Not found
Not found





No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 759
Asymptomatic compound heterozygote 33
CF 174
CFTR-RD487
  • Aquagenic palmoplantar keratoderma  2
  • Bronchiectasis  32
  • CBAVD  355
  • CRS-NP  7
  • Other  61
  • Pancreatitis  30
Fetal bowel anomalies 2
Pending 6
Pending (NBS) 54
Pending non-CF 3




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 1579heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1558heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1556heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1550heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1549heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CF-causing - Trans
CF 1546heterozygoteCF-causing- Undef
CF 1543heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1559heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CF-causing- Undef
CF 1560heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1562heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CF 1577heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1572heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1571heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CF 1570heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CF 1567heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1541heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1540heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1516heterozygoteCF-causing- Undef
VUS2- Undef
CF 1515heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1518heterozygoteCF-causing - Cis
likely CF - Trans
CF 1519heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
varying clinical consequence - Trans
CF 1520heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1539heterozygoteCF-causing- Undef
CF 1538heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1536heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1528heterozygote
CF 1527heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CF 1526heterozygoteCF-causing - Cis
CF-causing - Trans
CF 2045heterozygoteVUS3 - Trans
CF-causing- Undef
CF 4968heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CF 1684heterozygoteCF-causing - Cis
CF-causing- Undef
CF 1585heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1584heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1964heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CF 1581heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4861heterozygoteCF-causing - Cis
VUS3 - Trans
VUS3 - Trans
CF 4859heterozygoteCF-causing - Cis
CF-causing - Trans
CF 4854heterozygoteCF-causing - Cis
CF-causing - Trans
CF 4855heterozygoteCF-causing - Cis
VUS3- Undef
CF 4864heterozygoteCF-causing - Cis
varying clinical consequence- Undef
CF 4862heterozygoteCF-causing - Cis
varying clinical consequence- Undef
CF 4872heterozygoteCF-causing - Cis
CF-causing- Undef
CF 4871heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CF 1304heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1300heterozygoteCF-causing- Undef
CF 1297heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1285heterozygoteCF-causing - Cis
VUS3 - Trans
CF-causing - Trans
non-CF - Trans
CF 1309heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1310heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1311heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CF 4853heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1320heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1317heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CF 1315heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1440heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 5622heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 5615heterozygoteCF-causing - Cis
CF-causing - Trans
CF 5965heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 5963heterozygoteCF-causing- Undef
CF-causing- Undef
CF 5345heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CF 5174heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 5168heterozygoteCF-causing- Undef
VUS3- Undef
CF-causing- Undef
VUS3- Undef
CF 5971heterozygoteCF-causing- Undef
VUS3- Undef
CF 5335heterozygoteCF-causing - Cis
CF-causing - Trans
CF 4585heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4605heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 4596heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4591heterozygoteCF-causing - Cis
VUS2 - Trans
CF 4560heterozygoteCF-causing- Undef
likely CF- Undef
CF 4236heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CF-causing - Trans
CF 5067heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 2597heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CF-causing- Undef
CF 4893heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
VUS3- Undef
VUS3- Undef
CF 4946heterozygoteCF-causing - Cis
CF-causing - Trans
VUS2- Undef
CF 4903heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
VUS3- Undef
VUS3- Undef
CF 5006heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4764heterozygoteCF-causing - Cis
CF-causing- Undef
CF 4747heterozygoteCF-causing - Cis
CF-causing- Undef
CF 4744heterozygoteCF-causing - Cis
VUS3- Undef
CF 3131heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CF-causing- Undef
CF 3282heterozygoteCF-causing- Undef
CF-causing- Undef
CF 662heterozygoteVUS2- Undef
CF-causing- Undef
varying clinical consequence- Undef
CF 654heterozygoteCF-causing- Undef
CF-causing- Undef
CF 651heterozygoteCF-causing- Undef
CF-causing- Undef
CF 663heterozygoteVUS2- Undef
CF-causing- Undef
varying clinical consequence- Undef
CF 744heterozygoteVUS3- Undef
CF 738heterozygoteCF-causing- Undef
CF-causing- Undef
CF 762heterozygoteCF-causing- Undef
CF-causing- Undef
CF 761heterozygoteCF-causing - Cis
CF-causing - Trans
CF 733heterozygoteCF-causing- Undef
VUS3- Undef
CF 688heterozygoteCF-causing - Cis
CF-causing - Trans
CF 681heterozygoteCF-causing- Undef
CF-causing- Undef
CF 672heterozygoteCF-causing- Undef
CF-causing- Undef
CF 668heterozygoteCF-causing- Undef
CF-causing- Undef
CF 666heterozygoteCF-causing- Undef
CF-causing- Undef
VUS3- Undef
CF 691heterozygoteCF-causing- Undef
CF-causing- Undef
CF 696heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CF-causing- Undef
CF 716heterozygoteCF-causing- Undef
CF-causing- Undef
CF 711heterozygoteCF-causing- Undef
CF-causing- Undef
CF 703heterozygoteCF-causing- Undef
CF-causing- Undef
CF 277heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 4732heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CF 206heterozygoteCF-causing- Undef
CF 152heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4719heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CF 4665heterozygoteVUS3- Undef
CFTR-RD-causing- Undef
CF 4716heterozygoteCF-causing- Undef
CF-causing- Undef
CF 12heterozygoteCF-causing - Cis
CF-causing - Trans
CF 280heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 471heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 466heterozygoteCF-causing- Undef
CF-causing- Undef
VUS3- Undef
CF 384heterozygoteCF-causing- Undef
CF-causing- Undef
CF 374heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CF 360heterozygoteCF-causing - Cis
CF-causing - Trans
CF 357heterozygoteCF-causing - Cis
CF-causing - Trans
CF 787heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1042heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CF-causing- Undef
CF 4785heterozygoteCF-causing - Cis
varying clinical consequence- Undef
CF 4782heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CF 4781heterozygoteCF-causing - Cis
CF-causing - Trans
VUS3- Undef
CF 1027heterozygoteCF-causing- Undef
CF-causing- Undef
CF 5132heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 5135heterozygoteCF-causing- Undef
CF-causing- Undef
CF 5263heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 5256heterozygoteVUS3- Undef
VUS2- Undef
CF-causing- Undef
CF 1279heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1262heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1259heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1258heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1254heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1235heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1278heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1273heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CF 1266heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1232heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1226heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1071heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1101heterozygoteCF-causing - Cis
CF-causing - Trans
VUS3- Undef
CF 1178heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1139heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1137heterozygoteCF-causing - Cis
CF-causing - Trans
CF 889heterozygoteCF-causing - Cis
CF-causing - Trans
CF 884heterozygoteCF-causing- Undef
CF-causing- Undef
CF 882heterozygoteVUS3- Undef
CF-causing- Undef
CF 924heterozygoteCF-causing - Cis
CF-causing - Trans
CF 920heterozygoteVUS2- Undef
CF-causing- Undef
CF-causing- Undef
CF 913heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 909heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 808heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 835heterozygoteCF-causing- Undef
CF-causing- Undef
CF 926heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 943heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CF 945heterozygoteCF-causing- Undef
CF-causing- Undef
CF 947heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 975heterozygoteCF-causing- Undef
VUS3- Undef
CF 4831heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
varying clinical consequence- Undef
CF 5143heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4962heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CF 4603homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 4594homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3080T>C - p.(Ile1027Thr) - Trans
c.3196C>T - p.(Arg1066Cys) - Trans
CF 293homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3067_3072del - p.(Ile1023_Val1024del) - Trans
CF 318homozygotec.1364C>A - p.(Ala455Glu) - Trans
c.1521_1523del - p.(Phe508del) - Trans
CF 333homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3718-2477C>T - p.(=) - Trans
CF 343homozygotec.1585-9412A>G - p.(=) - Trans
c.3909C>G - p.(Asn1303Lys) - Trans
CF 4778homozygotec.1040G>A - p.(Arg347His) - Trans
c.1521_1523del - p.(Phe508del) - Trans
CF 5079homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3611G>A - p.(Trp1204*) - Trans
CF 585homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 5534homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3605del - p.(Asp1202Alafs*9) - Trans
CF 1532homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2012del - p.(Leu671*) - Trans
CF 5355homozygotec.1521_1523del - p.(Phe508del) - Trans
c.53+4A>T - p.(=) - Trans
CF 1140homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3964-78_4242+577del - p.(Gly1323_Val1415del) - Trans
CF 4031homozygotec.1521_1523del - p.(Phe508del) - Trans
CF 930homozygotec.3909C>G - p.(Asn1303Lys) - Trans
CF 1583homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2988+1173_3468+2111del - p.(Leu997_Leu1156del) - Trans
CBAVD 1511heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 1508heterozygoteCF-causing - Cis
VUS3 - Trans
CBAVD 1506heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 1505heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 1503heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1502heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1501heterozygoteCFTR-RD-causing - Trans
CFTR-RD-causing- Undef
CBAVD 1521heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 1498heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 2398heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 2134heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 2120heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 2114heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 2078heterozygoteVUS3 - Trans
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 2060heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 2040heterozygotevarying clinical consequence - Trans
VUS3- Undef
CBAVD 2039heterozygoteVUS3 - Trans
CF-causing- Undef
CBAVD 2165heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 2337heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 2292heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 2258heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 2232heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 2009heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1972heterozygoteCF-causing - Cis
VUS3 - Trans
CBAVD 4969heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 1746heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 1644heterozygoteVUS3 - Trans
VUS2- Undef
CF-causing- Undef
CBAVD 4972heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 4981heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 4982heterozygoteVUS3- Undef
CF-causing- Undef
CBAVD 1962heterozygoteVUS3 - Trans
CF-causing- Undef
CBAVD 1908heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 1891heterozygoteVUS3 - Trans
CF-causing- Undef
CBAVD 5286heterozygoteVUS3 - Trans
VUS3- Undef
CBAVD 1818heterozygoteVUS3 - Trans
CF-causing- Undef
CBAVD 1494heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1367heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1321heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1322heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1359heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1357heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1349heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1348heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1346heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1342heterozygoteVUS3 - Trans
CF-causing- Undef
CBAVD 1336heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1333heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 1326heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1301heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 1291heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1288heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1319heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 1318heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 1316heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1314heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 1284heterozygoteCF-causing- Undef
VUS3- Undef
CBAVD 1375heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1493heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1446heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1444heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1443heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 1441heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 1432heterozygoteVUS3 - Trans
CF-causing- Undef
CBAVD 1431heterozygotevarying clinical consequence - Trans
CF-causing- Undef
CBAVD 1428heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1427heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 1448heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1449heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1450heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 1485heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1483heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1477heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1469heterozygoteCF-causing - Cis
VUS3 - Cis
CFTR-RD-causing - Trans
CBAVD 1465heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
VUS2 - Trans
CBAVD 1459heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1458heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1455heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 1452heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1426heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 1424heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1403heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1402heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1400heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1398heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1396heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1395heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1391heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1383heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1380heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1404heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 1406heterozygoteVUS3 - Trans
CF-causing- Undef
CBAVD 1407heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1421heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
non-CF- Undef
CBAVD 1420heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1418heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1417heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 1416heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1415heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1414heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1411heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1408heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1376heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 5765heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 5600heterozygoteVUS3- Undef
CBAVD 5943heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5946heterozygoteCF-causing- Undef
VUS3- Undef
CBAVD 5947heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5764heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5590heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CFTR-RD-causing - Trans
CBAVD 5346heterozygoteCF-causing - Cis
CFTR-RD-causing- Undef
CBAVD 5173heterozygoteCF-causing- Undef
varying clinical consequence- Undef
VUS3- Undef
CBAVD 5330heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5944heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5969heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 3401heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 4578heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 4575heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4574heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 4571heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4566heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4562heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 4612heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4598heterozygoteCF-causing- Undef
VUS3- Undef
VUS2- Undef
CBAVD 4589heterozygoteCFTR-RD-causing- Undef
CBAVD 4311heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 4814heterozygoteCF-causing- Undef
CBAVD 4313heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 2976heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 2816heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 2794heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 2784heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 3063heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 2751heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 2730heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 4622heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 4650heterozygoteCF-causing - Cis
CFTR-RD-causing- Undef
CBAVD 4651heterozygoteVUS3 - Trans
CF-causing- Undef
VUS1- Undef
CBAVD 2949heterozygoteCF-causing - Cis
VUS3 - Cis
CFTR-RD-causing - Trans
CBAVD 5015heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 4755heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 4754heterozygoteCF-causing - Cis
CFTR-RD-causing- Undef
CBAVD 4753heterozygoteCF-causing - Cis
CFTR-RD-causing- Undef
CBAVD 4752heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4756heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 4663heterozygotevarying clinical consequence - Trans
CF-causing- Undef
CBAVD 2728heterozygoteCF-causing - Cis
VUS3 - Trans
CBAVD 2720heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 2514heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 2512heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 2460heterozygoteCFTR-RD-causing - Trans
varying clinical consequence- Undef
CF-causing- Undef
CBAVD 2695heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 2683heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 4944heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 4922heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 4911heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 2421heterozygoteCF-causing - Cis
CFTR-RD-causing- Undef
CBAVD 3341heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 3338heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 3329heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 3327heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 3325heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 3317heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 3313heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 3352heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 3360heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 3394heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
varying clinical consequence - Trans
CBAVD 3388heterozygoteCF-causing - Cis
VUS3 - Trans
CBAVD 3375heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 3369heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 3365heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 3272heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 3201heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 3064heterozygoteCF-causing - Cis
VUS3 - Trans
CBAVD 3274heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 3276heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 3301heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 3293heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 3288heterozygoteCF-causing - Cis
VUS3 - Trans
CBAVD 3286heterozygoteCF-causing - Cis
VUS3 - Trans
CBAVD 5068heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 572heterozygoteCF-causing- Undef
likely CFTR-RD- Undef
CBAVD 556heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 552heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 549heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 548heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 535heterozygoteCF-causing- Undef
VUS3- Undef
varying clinical consequence- Undef
CBAVD 534heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 591heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 599heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 658heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 632heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 619heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
VUS3- Undef
CBAVD 614heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 605heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 533heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 532heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
VUS3- Undef
CBAVD 528heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 497heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 495heterozygoteCF-causing - Cis
VUS1 - Cis
CFTR-RD-causing - Trans
CBAVD 493heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 491heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 490heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 489heterozygoteCFTR-RD-causing - Cis
CFTR-RD-causing - Trans
CBAVD 486heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 484heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 499heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
VUS3- Undef
CBAVD 500heterozygotenon-CF- Undef
CF-causing- Undef
CBAVD 522heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 520heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 519heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 517heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 514heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 512heterozygoteCFTR-RD-causing - Cis
CFTR-RD-causing - Trans
CBAVD 506heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 505heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 501heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 480heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 786heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 755heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 751heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 743heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 736heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 770heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 765heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 763heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 735heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 689heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 682heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 675heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 674heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 728heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 724heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 721heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 717heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 710heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 698heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 665heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 476heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 4740heterozygoteCF-causing- Undef
VUS1- Undef
CBAVD 413heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 4722heterozygoteCF-causing - Cis
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5072heterozygoteCF-causing- Undef
VUS3- Undef
CBAVD 4837heterozygoteCFTR-RD-causing - Trans
varying clinical consequence- Undef
CBAVD 4717heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 4682heterozygoteCF-causing - Cis
VUS3- Undef
CFTR-RD-causing- Undef
CBAVD 4679heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 81heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 68heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 4706heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4703heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 4699heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
VUS2- Undef
CBAVD 474heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 456heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 454heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 452heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 451heterozygoteCF-causing - Cis
VUS3 - Cis
likely CFTR-RD - Trans
CBAVD 450heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 446heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 444heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 438heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 437heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 458heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 473heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 470heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 467heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 465heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
VUS3 - Trans
CBAVD 463heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 462heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 460heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 436heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 435heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 434heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 397heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 396heterozygote
CBAVD 394heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 393heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 391heterozygoteCF-causing - Cis
non-CF - Cis
CFTR-RD-causing - Trans
CBAVD 398heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 402heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 430heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CFTR-RD-causing - Trans
CBAVD 426heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 421heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 420heterozygoteCF-causing- Undef
non-CF- Undef
CBAVD 414heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 410heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 409heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 408heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 404heterozygotevarying clinical consequence- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5821heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 1056heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 1055heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1048heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 5819heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 5221heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 5229heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5134heterozygoteVUS3- Undef
CF-causing- Undef
CBAVD 5524heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 5265heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 1065heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1244heterozygoteCF-causing- Undef
likely CFTR-RD- Undef
CBAVD 1263heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 1264heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 1274heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 1272heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 1270heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1269heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 1267heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 5234heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
VUS3- Undef
CBAVD 5231heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 5230heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 1163heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 1067heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 893heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 891heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 890heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 876heterozygoteCF-causing- Undef
likely CFTR-RD- Undef
CBAVD 875heterozygoteCF-causing- Undef
likely CFTR-RD- Undef
CBAVD 895heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 900heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 918heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 912heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 873heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 868heterozygoteCF-causing- Undef
likely CFTR-RD- Undef
CBAVD 832heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 825heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 819heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 810heterozygoteVUS2- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 834heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 837heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 861heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 859heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CBAVD 857heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 856heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 852heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 841heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 840heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 792heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 4830heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 949heterozygoteVUS3 - Trans
CF-causing- Undef
CBAVD 961heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 4828heterozygotevarying clinical consequence - Trans
CF-causing- Undef
CBAVD 978heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 981heterozygoteCFTR-RD-causing - Trans
CFTR-RD-causing- Undef
CBAVD 988heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 897heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 927heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 849homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2991G>C - p.(Leu997Phe) - Trans
CBAVD 4586homozygotec.2991G>C - p.(Leu997Phe) - Trans
CBAVD 5235homozygotec.1521_1523del - p.(Phe508del) - Trans
c.377G>A - p.(Gly126Asp) - Trans
CBAVD 838homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3415A>G - p.(Ile1139Val) - Trans
CBAVD 525homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2991G>C - p.(Leu997Phe) - Trans
CBAVD 5344homozygotec.1364C>A - p.(Ala455Glu) - Trans
c.1521_1523del - p.(Phe508del) - Trans
CBAVD 449homozygotec.2939T>A - p.(Ile980Lys) - Trans
c.3605del - p.(Asp1202Alafs*9) - Trans
CBAVD 428homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2991G>C - p.(Leu997Phe) - Trans
CBAVD 647homozygotec.1040G>A - p.(Arg347His) - Trans
c.1521_1523del - p.(Phe508del) - Trans
Other 4671heterozygoteVUS3- Undef
CFTR-RD-causing- Undef
Other 4686heterozygoteCF-causing - Cis
VUS3 - Trans
Other 4690heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Other 4698heterozygoteCF-causing - Cis
varying clinical consequence - Trans
Other 4705heterozygoteCF-causing- Undef
CF-causing- Undef
Other 4713heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Other 4714heterozygoteCF-causing - Cis
Other 4715heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Other 4846heterozygoteCF-causing - Cis
CFTR-RD-causing- Undef
Other 4836heterozygoteCF-causing - Cis
VUS3 - Trans
Other 4844heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Other 87heterozygoteCF-causing - Cis
varying clinical consequence - Trans
Other 5083heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CF-causing- Undef
Other 358heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Other 756heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Other 757heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Other 779heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Other 815heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Other 845heterozygoteCF-causing- Undef
Other 851heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Other 937heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Other 972heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Other 980heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
varying clinical consequence - Trans
Other 5264heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CF-causing- Undef
Other 5743heterozygoteCF-causing- Undef
VUS3- Undef
CFTR-RD-causing- Undef
Other 5136heterozygoteCF-causing- Undef
Other 5224heterozygoteVUS3 - Trans
VUS3- Undef
Other 5523heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
Other 5518heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
Other 5823heterozygoteVUS3- Undef
CF-causing- Undef
non-CF- Undef
VUS3- Undef
Other 5825heterozygoteVUS3- Undef
CF-causing- Undef
Other 5128heterozygoteCF-causing - Cis
varying clinical consequence - Trans
Other 4774heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Other 4777heterozygoteCF-causing - Cis
VUS3 - Trans
Other 1069heterozygoteCF-causing - Cis
likely CFTR-RD - Trans
Other 1099heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Other 1136heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Other 1265heterozygoteCF-causing- Undef
Other 1305heterozygoteCF-causing- Undef
VUS1- Undef
Other 1576heterozygoteCF-causing - Cis
VUS1 - Trans
Other 2448heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Other 2544heterozygoteCF-causing - Cis
varying clinical consequence - Trans
Other 2641heterozygoteVUS3 - Trans
CF-causing- Undef
VUS3- Undef
Other 2771heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Other 2801heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Other 4664heterozygoteCF-causing - Cis
CFTR-RD-causing- Undef
Other 5175heterozygoteCF-causing- Undef
VUS3- Undef
Other 5763heterozygoteVUS3- Undef
CF-causing- Undef
non-CF- Undef
Other 5625heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Other 5163heterozygoteCF-causing- Undef
VUS3- Undef
Other 4312heterozygoteCF-causing- Undef
VUS2- Undef
Other 4801heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Other 4810heterozygoteCF-causing - Cis
CFTR-RD-causing- Undef
Other 4561heterozygoteCF-causing- Undef
non-CF- Undef
Other 4563heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
VUS3- Undef
Other 4567heterozygoteCF-causing- Undef
VUS3- Undef
Other 4570heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CFTR-RD-causing - Trans
Other 4582heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Other 4615heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Other 627homozygotec.1000C>T - p.(Arg334Trp) - Trans
c.695T>A - p.(Val232Asp) - Trans
Other 940homozygotec.1521_1523del - p.(Phe508del) - Trans
Pending (NBS) 4693heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 4694heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pending (NBS) 4720heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pending (NBS) 646heterozygoteCF-causing - Cis
varying clinical consequence - Trans
Pending (NBS) 734heterozygotevarying clinical consequence- Undef
CF-causing- 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) 944heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pending (NBS) 5089heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Pending (NBS) 5244heterozygoteCF-causing- Undef
VUS3- Undef
Pending (NBS) 5247heterozygoteCF-causing - Cis
VUS1 - Cis
VUS3 - Trans
VUS3 - Trans
Pending (NBS) 5820heterozygoteCF-causing- Undef
VUS3- Undef
CFTR-RD-causing- Undef
Pending (NBS) 5816heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 5808heterozygoteCF-causing- Undef
VUS3- Undef
Pending (NBS) 5817heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Pending (NBS) 5803heterozygoteCF-causing - Cis
varying clinical consequence - Trans
VUS3 - Trans
Pending (NBS) 4769heterozygoteCF-causing - Cis
varying clinical consequence- Undef
Pending (NBS) 1070heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Pending (NBS) 1180heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Pending (NBS) 1253heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
VUS3- Undef
Pending (NBS) 1255heterozygoteCF-causing - Cis
varying clinical consequence - Trans
Pending (NBS) 4852heterozygoteCF-causing - Cis
VUS3 - Trans
Pending (NBS) 1522heterozygoteCF-causing - Cis
non-CF - Trans
Pending (NBS) 1530heterozygoteCF-causing - Cis
VUS4 - Trans
Pending (NBS) 1547heterozygoteCF-causing - Cis
varying clinical consequence - Trans
Pending (NBS) 1563heterozygoteCF-causing- Undef
VUS3- Undef
Pending (NBS) 1566heterozygoteCF-causing - Cis
varying clinical consequence - Trans
Pending (NBS) 1580heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Pending (NBS) 4638heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pending (NBS) 4643heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pending (NBS) 4616heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pending (NBS) 4621heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pending (NBS) 4654heterozygoteCF-causing - Cis
varying clinical consequence - Trans
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) 5327heterozygoteCF-causing - Cis
varying clinical consequence - Trans
Pending (NBS) 5342heterozygoteCF-causing - Cis
varying clinical consequence - Trans
Pending (NBS) 5769heterozygoteCF-causing- Undef
varying clinical consequence- Undef
VUS3- Undef
Pending (NBS) 5573heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pending (NBS) 3438heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pending (NBS) 3442heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 3472heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 3512heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 3648heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pending (NBS) 3668heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pending (NBS) 3672heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pending (NBS) 3982heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 4122heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 4320heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pending (NBS) 4593heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 4606heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pending (NBS) 1312homozygotec.1521_1523del - p.(Phe508del) - Trans
c.273+4A>G - p.(=) - Trans
Pending (NBS) 1575homozygotec.1521_1523del - p.(Phe508del) - Trans
c.695T>A - p.(Val232Asp) - Trans
Pending non-CF 4704heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pending non-CF 753heterozygoteCF-causing- Undef
VUS3- Undef
Pending non-CF 5009heterozygoteVUS3- Undef
CF-causing- Undef
Pancreatitis 4721heterozygoteCF-causing - Cis
varying clinical consequence- Undef
Pancreatitis 205heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pancreatitis 5080heterozygoteVUS3- Undef
VUS3- Undef
Pancreatitis 776heterozygoteCF-causing - Cis
varying clinical consequence - Trans
Pancreatitis 5142heterozygoteVUS3 - Trans
CF-causing- Undef
Pancreatitis 1063heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Pancreatitis 1161heterozygoteCF-causing- Undef
VUS3- Undef
Pancreatitis 1225heterozygoteCF-causing - Cis
Pancreatitis 1673heterozygoteVUS3 - Trans
non-CF- Undef
Pancreatitis 1735heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pancreatitis 4993heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Pancreatitis 2073heterozygoteCFTR-RD-causing - Trans
VUS3- Undef
Pancreatitis 2435heterozygoteCFTR-RD-causing - Trans
Pancreatitis 2473heterozygoteVUS3 - Trans
CF-causing- Undef
Pancreatitis 2486heterozygoteVUS3 - Trans
non-CF- Undef
CFTR-RD-causing- Undef
Pancreatitis 4891heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Pancreatitis 4907heterozygoteVUS3- Undef
CF-causing- Undef
Pancreatitis 3024heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pancreatitis 3259heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Pancreatitis 4636heterozygoteCF-causing - Cis
non-CF - Trans
Pancreatitis 4743heterozygoteCF-causing - Cis
CFTR-RD-causing- Undef
Pancreatitis 5007heterozygoteVUS3- Undef
CF-causing- Undef
Pancreatitis 5973heterozygoteVUS3- Undef
VUS3- Undef
Pancreatitis 5974heterozygoteVUS3- Undef
Pancreatitis 5165heterozygoteVUS3- Undef
VUS3- Undef
Pancreatitis 5326heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
varying clinical consequence - Trans
Pancreatitis 5949heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Pancreatitis 4559heterozygoteCF-causing- Undef
VUS3- Undef
Pancreatitis 4581heterozygoteVUS3 - Trans
CF-causing- Undef
Pancreatitis 5145homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2991G>C - p.(Leu997Phe) - Trans
Bronchiectasis 4725heterozygoteCF-causing - Cis
CFTR-RD-causing- Undef
Bronchiectasis 4726heterozygoteCFTR-RD-causing- Undef
varying clinical consequence- Undef
Bronchiectasis 4734heterozygoteCF-causing - Cis
varying clinical consequence- Undef
Bronchiectasis 4833heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
Bronchiectasis 899heterozygoteCF-causing- Undef
Bronchiectasis 921heterozygoteCF-causing - Cis
VUS3 - Trans
Bronchiectasis 950heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Bronchiectasis 5137heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Bronchiectasis 5126heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Bronchiectasis 4773heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
VUS3- Undef
Bronchiectasis 1068heterozygoteCF-causing - Cis
likely CFTR-RD - Trans
Bronchiectasis 1096heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Bronchiectasis 4848heterozygoteCF-causing - Cis
varying clinical consequence - Trans
Bronchiectasis 4863heterozygoteCF-causing - Cis
varying clinical consequence- Undef
Bronchiectasis 4868heterozygotevarying clinical consequence- Undef
CF-causing- Undef
varying clinical consequence- Undef
Bronchiectasis 4866heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Bronchiectasis 1542heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Bronchiectasis 1810heterozygoteVUS3 - Trans
non-CF- Undef
Bronchiectasis 1829heterozygoteVUS3 - Trans
CF-causing- Undef
Bronchiectasis 2139heterozygoteVUS3 - Trans
CF-causing- Undef
Bronchiectasis 2287heterozygoteVUS3 - Trans
CF-causing- Undef
Bronchiectasis 2368heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Bronchiectasis 4947heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Bronchiectasis 4623heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Bronchiectasis 4657heterozygoteCF-causing - Cis
varying clinical consequence- Undef
Bronchiectasis 5005heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Bronchiectasis 5618heterozygoteVUS3- Undef
Bronchiectasis 5950heterozygoteCF-causing- Undef
VUS3- Undef
Bronchiectasis 5952heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Bronchiectasis 5564heterozygoteCF-causing - Cis
non-CF - Cis
CFTR-RD-causing - Trans
Bronchiectasis 4601heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Bronchiectasis 5826homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3718-2477C>T - p.(=) - Trans
Asymptomatic compound heterozygote 459heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Asymptomatic compound heterozygote 496heterozygoteCF-causing - Cis
VUS1 - Cis
CFTR-RD-causing - Trans
Asymptomatic compound heterozygote 558heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Asymptomatic compound heterozygote 575heterozygoteCFTR-RD-causing - Cis
CFTR-RD-causing - Trans
Asymptomatic compound heterozygote 739heterozygoteCFTR-RD-causing - Cis
CFTR-RD-causing - Trans
Asymptomatic compound heterozygote 740heterozygoteCFTR-RD-causing - Cis
CFTR-RD-causing - Trans
CFTR-RD-causing - Trans
Asymptomatic compound heterozygote 778heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Asymptomatic compound heterozygote 796heterozygoteCF-causing - Cis
non-CF - Cis
CFTR-RD-causing - Trans
Asymptomatic compound heterozygote 885heterozygoteCF-causing - Cis
Asymptomatic compound heterozygote 925heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Asymptomatic compound heterozygote 958heterozygoteCF-causing - Cis
VUS3 - Trans
Asymptomatic compound heterozygote 5220heterozygoteVUS3 - Trans
non-CF- Undef
Asymptomatic compound heterozygote 4960heterozygoteCFTR-RD-causing- Undef
Asymptomatic compound heterozygote 4961heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Asymptomatic compound heterozygote 5140heterozygoteVUS3- Undef
CF-causing- Undef
Asymptomatic compound heterozygote 5222heterozygoteVUS3- Undef
CFTR-RD-causing- Undef
Asymptomatic compound heterozygote 5815heterozygoteCFTR-RD-causing- Undef
Asymptomatic compound heterozygote 5851heterozygoteVUS3- Undef
VUS1- Undef
Asymptomatic compound heterozygote 5233heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Asymptomatic compound heterozygote 1290heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Asymptomatic compound heterozygote 1574heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Asymptomatic compound heterozygote 2159heterozygoteVUS3 - Trans
CF-causing- Undef
Asymptomatic compound heterozygote 2225heterozygoteVUS3 - Trans
CF-causing- Undef
Asymptomatic compound heterozygote 3191heterozygoteCF-causing - Cis
VUS3 - Trans
Asymptomatic compound heterozygote 3204heterozygoteCF-causing - Cis
VUS3 - Trans
Asymptomatic compound heterozygote 3235heterozygoteCFTR-RD-causing - Cis
VUS3 - Trans
Asymptomatic compound heterozygote 4641heterozygoteCF-causing - Cis
Asymptomatic compound heterozygote 5598heterozygoteCF-causing - Cis
VUS3 - Trans
Asymptomatic compound heterozygote 5599heterozygoteCF-causing - Cis
Asymptomatic compound heterozygote 5601heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Asymptomatic compound heterozygote 5606heterozygoteCF-causing - Cis
VUS3 - Trans
non-CF - Trans
Asymptomatic compound heterozygote 5964heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CFTR-RD-causing - Trans
Asymptomatic compound heterozygote 5164heterozygoteCF-causing- Undef
Fetal bowel anomalies 607heterozygoteCF-causing - Cis
VUS3 - Trans
CF-causing - Trans
Fetal bowel anomalies 4316heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pending 907heterozygoteCF-causing- Undef
VUS3- Undef
Pending 5216heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Pending 1181heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pending 2273heterozygoteCF-causing - Cis
VUS3 - Trans
Pending 4748homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2991G>C - p.(Leu997Phe) - Trans
Pending 5771homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2988+1173_3468+2111del - p.(Leu997_Leu1156del) - Trans
CRS-NP 910heterozygoteCF-causing- Undef
CRS-NP 5531heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
VUS3 - Trans
CRS-NP 1239heterozygoteCF-causing- Undef
CRS-NP 1554heterozygoteCF-causing- Undef
CRS-NP 2189heterozygoteVUS3 - Trans
CF-causing- Undef
CRS-NP 3284heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CRS-NP 4319heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Aquagenic palmoplantar keratoderma 5149heterozygoteVUS3- Undef
CF-causing- Undef
Aquagenic palmoplantar keratoderma 4827homozygotec.1521_1523del - p.(Phe508del) - Trans
c.2991G>C - p.(Leu997Phe) - 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