Variant NM_000492.4:c.1210-34_1210-6TG[10]T[7]


Variant details:
Name NM_000492.4:c.1210-34_1210-6TG[10]T[7]
#Exon/intron intron 9
Legacy Name TG10T7
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


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

TOTAL NUMBER OF PATIENTS 395
Asymptomatic compound heterozygote 28
CF 79
CFTR-RD255
  • Aquagenic palmoplantar keratoderma  4
  • Bronchiectasis  22
  • CBAVD  159
  • CRS-NP  3
  • Other  29
  • Pancreatitis  38
Pending 3
Pending (NBS) 28
Pending non-CF 2




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 1559heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CF-causing- Undef
CF 1561heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1562heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CF 1579heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1584heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1551heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1139heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1170heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1232heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1262heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1138heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1027heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4780heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4781heterozygoteCF-causing - Cis
CF-causing - Trans
VUS3- Undef
CF 4785heterozygoteCF-causing - Trans
varying clinical consequence- Undef
CF 1071heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1266heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1517heterozygoteVUS3- Undef
CF-causing- Undef
CF-causing- Undef
CF 1528heterozygote
CF 1536heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1538heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1440heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1278heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1293heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CF 1298heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1320heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1539heterozygoteCF-causing- Undef
CF 5777heterozygoteCF-causing - Cis
VUS3 - Trans
VUS3 - Trans
CF 5965heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 4580heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4535heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4553heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4557heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4747heterozygoteCF-causing - Trans
CF-causing- Undef
CF 5006heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4765heterozygoteVUS3- Undef
varying clinical consequence- Undef
CF-causing- Undef
CF 5341heterozygoteVUS3- Undef
CF-causing- Undef
CF 5174heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 5345heterozygotevarying clinical consequence - Cis
CF-causing - Trans
CF 5971heterozygoteCF-causing- Undef
VUS3- Undef
CF 471heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 570heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CF 654heterozygoteCF-causing- Undef
CF-causing- Undef
CF 662heterozygoteVUS2- Undef
CF-causing- Undef
varying clinical consequence- Undef
CF 4665heterozygoteVUS3- Undef
CFTR-RD-causing- Undef
CF 4719heterozygotevarying clinical consequence - Cis
CF-causing - Trans
CF 4697heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4716heterozygoteCF-causing- Undef
CF-causing- Undef
CF 384heterozygoteCF-causing- Undef
CF-causing- Undef
CF 294heterozygoteVUS1- Undef
CFTR-RD-causing- Undef
CF 316heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 945heterozygoteCF-causing- Undef
CF-causing- Undef
CF 975heterozygoteCF-causing- Undef
VUS3- Undef
CF 909heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 920heterozygoteVUS2- Undef
CF-causing- Undef
CF-causing- Undef
CF 5263heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 5215heterozygoteVUS3 - Trans
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CF 4962heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CF 5135heterozygoteCF-causing- Undef
CF-causing- Undef
CF 691heterozygoteCF-causing- Undef
CF-causing- Undef
CF 808heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 863heterozygoteCF-causing- Undef
CF-causing- Undef
CF 663heterozygoteVUS2- Undef
CF-causing- Undef
varying clinical consequence- Undef
CF 835heterozygoteCF-causing- Undef
CF-causing- Undef
CF 882heterozygoteVUS3- Undef
CF-causing- Undef
CF 816heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4723homozygotec.1657C>T - p.(Arg553*) - Trans
c.2052dup - p.(Gln685Thrfs*4) - Trans
CF 5226homozygotec.2215del - p.(Val739Tyrfs*16) - Trans
c.3691del - p.(Ser1231Profs*4) - Trans
CF 4541homozygotec.2215del - p.(Val739Tyrfs*16) - Trans
c.3160C>G - p.(His1054Asp) - Trans
CF 1109homozygotec.3964-3C>G - p.(=) - Trans
CF 4688homozygotec.1519_1521del - p.(Ile507del) - Trans
c.2657+5G>A - p.(=) - Trans
CF 4718homozygotec.2374C>T - p.(Arg792*) - Trans
c.870-1113_870-1110del - p.(=) - Trans
CF 1289homozygotec.3846G>A - p.(Trp1282*) - Trans
c.[165-291_1585-8528delins39;2619+2288_2989-839delins16] - p.? - Trans
CF 1535homozygotec.2051_2052delinsG - p.(Lys684Serfs*38) - Trans
c.4200_4201del - p.(Cys1400*) - Trans
c.489+3A>G - p.(=) - Trans
CF 901homozygotec.2657+5G>A - p.(=) - Trans
CF 3097homozygotec.2051_2052delinsG - p.(Lys684Serfs*38) - Trans
c.2657+5G>A - p.(=) - Trans
CF 5807homozygotec.1475C>T - p.(Ser492Phe) - Trans
c.222_223delinsA - p.(Arg75AspfsTer16) - Trans
CF 730homozygotec.3131A>G - p.(Glu1044Gly) - Trans
CF 1555homozygotec.3745G>A - p.(Gly1249Arg) - Trans
CBAVD 2090heterozygoteVUS3 - Trans
VUS2- Undef
CBAVD 2255heterozygoteVUS3 - Trans
CF-causing- Undef
CBAVD 5290heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 1659heterozygoteVUS3 - Trans
CBAVD 2336heterozygoteCFTR-RD-causing - Trans
CFTR-RD-causing- Undef
CBAVD 4928heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 4931heterozygoteVUS3- Undef
varying clinical consequence- Undef
CBAVD 2718heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 2780heterozygoteCFTR-RD-causing - Trans
CBAVD 2800heterozygotevarying clinical consequence - Cis
CFTR-RD-causing - Trans
varying clinical consequence - Trans
CBAVD 4653heterozygoteCFTR-RD-causing - Trans
varying clinical consequence- Undef
CBAVD 4874heterozygoteCFTR-RD-causing - Trans
varying clinical consequence- Undef
CBAVD 2421heterozygoteCF-causing - Trans
CFTR-RD-causing- Undef
CBAVD 4646heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 5821heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 1243heterozygotelikely CFTR-RD- Undef
VUS3- Undef
VUS2- Undef
CBAVD 1482heterozygotevarying clinical consequence - Trans
CFTR-RD-causing- Undef
CBAVD 1484heterozygoteVUS3 - Trans
CF-causing- Undef
CBAVD 1491heterozygoteCF-causing - Cis
VUS3 - Trans
non-CF - Trans
CBAVD 1492heterozygoteCFTR-RD-causing - Trans
VUS3- Undef
CBAVD 4850heterozygoteCFTR-RD-causing - Cis
CFTR-RD-causing - Trans
CBAVD 1276heterozygoteVUS3 - Trans
CFTR-RD-causing- Undef
CBAVD 1280heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 1284heterozygoteCF-causing- Undef
VUS3- Undef
CBAVD 1287heterozygoteCFTR-RD-causing - Trans
varying clinical consequence- Undef
CBAVD 4756heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 4309heterozygoteCF-causing- Undef
VUS3- Undef
CBAVD 5943heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5945heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5947heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4311heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 4574heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 4575heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4576heterozygoteVUS3 - Trans
CFTR-RD-causing- Undef
CBAVD 4577heterozygoteCFTR-RD-causing - Trans
varying clinical consequence- Undef
CBAVD 4612heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4571heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4536heterozygoteCF-causing- Undef
CBAVD 4752heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3368heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 4750heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3363heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 3271heterozygoteCFTR-RD-causing - Trans
varying clinical consequence- Undef
CBAVD 3334heterozygoteCFTR-RD-causing - Cis
varying clinical consequence - Trans
CBAVD 5330heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5173heterozygoteCF-causing- Undef
varying clinical consequence- Undef
VUS3- Undef
CBAVD 5764heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5600heterozygoteVUS3- Undef
CBAVD 5346heterozygoteCF-causing - Trans
CFTR-RD-causing- Undef
CBAVD 5590heterozygoteCFTR-RD-causing - Cis
CFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 5944heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5314heterozygoteVUS3 - Trans
CF-causing- Undef
CBAVD 438heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 497heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 500heterozygotenon-CF- Undef
CF-causing- Undef
CBAVD 503heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 504heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 505heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 506heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 511heterozygoteCFTR-RD-causing - Cis
CFTR-RD-causing - Cis
VUS3 - Trans
CBAVD 512heterozygoteCFTR-RD-causing - Cis
CFTR-RD-causing - Trans
CBAVD 517heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 484heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 480heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 479heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 452heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 455heterozygoteCFTR-RD-causing- Undef
CBAVD 456heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 461heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 462heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 467heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 478heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 519heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 520heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 572heterozygoteCF-causing- Undef
likely CFTR-RD- Undef
CBAVD 615heterozygote
CBAVD 633heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 640heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 658heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 659heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
VUS3- Undef
CBAVD 556heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 552heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 522heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 523heterozygotelikely CFTR-RD- Undef
varying clinical consequence- Undef
CBAVD 524heterozygoteCFTR-RD-causing - Trans
CBAVD 526heterozygoteVUS3- Undef
CBAVD 527heterozygotevarying clinical consequence- Undef
CBAVD 533heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 534heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 535heterozygoteCF-causing- Undef
VUS3- Undef
varying clinical consequence- Undef
CBAVD 549heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4727heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 4729heterozygoteVUS3- Undef
likely CFTR-RD- Undef
CBAVD 4735heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
varying clinical consequence- Undef
CBAVD 4722heterozygoteCF-causing - Trans
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4669heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 4706heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4710heterozygoteCFTR-RD-causing- Undef
VUS3- Undef
CF-causing- Undef
CBAVD 4838heterozygoteCFTR-RD-causing - Trans
varying clinical consequence- Undef
CBAVD 404heterozygotevarying clinical consequence- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 409heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 420heterozygoteCF-causing- Undef
non-CF- Undef
CBAVD 423heterozygoteVUS3- Undef
CBAVD 427heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 429heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 430heterozygoteCFTR-RD-causing - Cis
CFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 431heterozygote
CBAVD 650heterozygoteCFTR-RD-causing - Cis
CF-causing- Undef
CBAVD 403heterozygoteVUS1- Undef
CFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 396heterozygote
CBAVD 436heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 893heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 963heterozygoteCFTR-RD-causing - Trans
CFTR-RD-causing- Undef
CBAVD 986heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 941heterozygoteVUS4- Undef
CF-causing- Undef
CBAVD 938heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 900heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 919heterozygoteVUS3 - Trans
non-CF- Undef
CF-causing- Undef
CBAVD 931heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 4824heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
CBAVD 5229heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5127heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 5819heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 892heterozygoteCFTR-RD-causing- Undef
varying clinical consequence- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CBAVD 682heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 763heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 737heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 728heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 690heterozygote
CBAVD 717heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 725heterozygoteVUS3 - Trans
non-CF- Undef
CF-causing- Undef
CBAVD 710heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 724heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 721heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 675heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 805heterozygoteVUS1- Undef
CBAVD 664heterozygote
CBAVD 832heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 858heterozygote
CBAVD 818heterozygote
CBAVD 812heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 887heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 1132homozygotec.3208C>T - p.(Arg1070Trp) - Trans
c.509G>A - p.(Arg170His) - Trans
CBAVD 4532homozygotec.2002C>T - p.(Arg668Cys) - Trans
c.2834C>T - p.(Ser945Leu) - Trans
CBAVD 4554homozygotec.1516A>C - p.(Ile506Leu) - Trans
CBAVD 433homozygotec.1327G>T - p.(Asp443Tyr) - Trans
c.2002C>T - p.(Arg668Cys) - Trans
c.2051_2052delinsG - p.(Lys684Serfs*38) - Trans
CBAVD 701homozygotec.350G>A - p.(Arg117His) - Trans
CBAVD 613homozygotec.2657+5G>A - p.(=) - Trans
c.581G>T - p.(Gly194Val) - Trans
CBAVD 5129homozygotec.1519_1521del - p.(Ile507del) - Trans
c.1704G>T - p.(Leu568Phe) - Trans
CBAVD 565homozygotec.220C>T - p.(Arg74Trp) - Trans
c.2596T>C - p.(Cys866Arg) - Trans
c.2620-17G>T - p.(=) - Trans
c.3808G>A - p.(Asp1270Asn) - Trans
c.601G>A - p.(Val201Met) - Trans
CBAVD 395homozygotec.1327G>T - p.(Asp443Tyr) - Trans
c.2002C>T - p.(Arg668Cys) - Trans
c.2051_2052delinsG - p.(Lys684Serfs*38) - Trans
CBAVD 416homozygotec.3454G>C - p.(Asp1152His) - Trans
c.3846G>A - p.(Trp1282*) - Trans
CBAVD 720homozygotec.4097T>C - p.(Ile1366Thr) - Trans
CBAVD 1393homozygotec.2856G>C - p.(Met952Ile) - Trans
c.350G>A - p.(Arg117His) - Trans
CBAVD 508homozygotec.1013C>T - p.(Thr338Ile) - Trans
c.1327G>T - p.(Asp443Tyr) - Trans
c.2002C>T - p.(Arg668Cys) - Trans
CBAVD 443homozygote
CBAVD 990homozygotec.1A>G - p.? - Trans
c.3454G>C - p.(Asp1152His) - Trans
CBAVD 1248homozygotec.1327G>T - p.(Asp443Tyr) - Trans
c.2002C>T - p.(Arg668Cys) - Trans
c.25dup - p.(Ala9Glyfs*36) - Trans
CBAVD 551homozygotec.1585-1G>A - p.(=) - Trans
c.3458T>A - p.(Val1153Glu) - Trans
Other 1576heterozygoteCF-causing- Undef
VUS1- Undef
Other 1089heterozygotevarying clinical consequence - Trans
Other 1069heterozygotelikely CFTR-RD - Cis
CF-causing - Trans
Other 1265heterozygoteCF-causing- Undef
Other 4292heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Other 5616heterozygoteCFTR-RD-causing- Undef
non-CF- Undef
Other 5625heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Other 4312heterozygoteCF-causing- Undef
VUS2- Undef
Other 4572heterozygoteVUS2- Undef
Other 4570heterozygoteCFTR-RD-causing - Cis
CFTR-RD-causing - Cis
CF-causing - Trans
Other 4315heterozygotevarying clinical consequence- Undef
Other 4801heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Other 4810heterozygoteCF-causing - Trans
CFTR-RD-causing- Undef
Other 4615heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Other 5175heterozygoteCF-causing- Undef
VUS3- Undef
Other 464heterozygoteVUS3 - Trans
CF-causing- Undef
Other 4730heterozygoteVUS3- Undef
varying clinical consequence- Undef
Other 4671heterozygoteVUS3- Undef
CFTR-RD-causing- Undef
Other 4711heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
Other 4835heterozygoteVUS3 - Cis
CFTR-RD-causing - Trans
Other 5083heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CF-causing- Undef
Other 972heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Other 935heterozygoteCFTR-RD-causing- Undef
Other 5522heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
Other 5264heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CF-causing- Undef
Other 5743heterozygoteCF-causing- Undef
VUS3- Undef
CFTR-RD-causing- Undef
Other 789heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Other 815heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Other 4583homozygotec.1753G>T - p.(Glu585*) - Trans
c.2657+5G>A - p.(=) - Trans
Pancreatitis 1925heterozygoteVUS3 - Trans
Pancreatitis 2147heterozygoteVUS3 - Trans
varying clinical consequence- Undef
Pancreatitis 2334heterozygoteCFTR-RD-causing - Trans
non-CF- Undef
Pancreatitis 4916heterozygoteVUS3- Undef
VUS3- Undef
Pancreatitis 2871heterozygote
Pancreatitis 4913heterozygoteVUS3- Undef
non-CF- Undef
Pancreatitis 4898heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Pancreatitis 2351heterozygoteVUS3 - Trans
CFTR-RD-causing- Undef
Pancreatitis 2417heterozygoteCFTR-RD-causing - Trans
varying clinical consequence- Undef
Pancreatitis 2451heterozygoteVUS3 - Trans
Pancreatitis 2527heterozygoteVUS3 - Trans
Pancreatitis 2536heterozygoteVUS3 - Trans
VUS3- Undef
Pancreatitis 2591heterozygoteVUS3 - Trans
CFTR-RD-causing- Undef
Pancreatitis 1161heterozygoteCF-causing- Undef
VUS3- Undef
Pancreatitis 1168heterozygoteVUS3- Undef
Pancreatitis 1524heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Pancreatitis 4849heterozygoteCF-causing - Cis
CF-causing - Trans
Pancreatitis 5614heterozygoteVUS3- Undef
Pancreatitis 5619heterozygoteVUS3- Undef
Pancreatitis 5621heterozygoteCFTR-RD-causing- Undef
Pancreatitis 4614heterozygotevarying clinical consequence- Undef
varying clinical consequence- Undef
Pancreatitis 4743heterozygoteCF-causing - Trans
CFTR-RD-causing- Undef
Pancreatitis 5010heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Pancreatitis 2984heterozygoteCFTR-RD-causing - Trans
CFTR-RD-causing- Undef
Pancreatitis 3014heterozygoteVUS3 - Trans
Pancreatitis 4642heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pancreatitis 4659heterozygoteVUS3- Undef
Pancreatitis 5340heterozygoteCFTR-RD-causing- Undef
VUS3- Undef
Pancreatitis 5605heterozygoteVUS2- Undef
Pancreatitis 5336heterozygoteVUS3- Undef
VUS3- Undef
Pancreatitis 5329heterozygotevarying clinical consequence- Undef
Pancreatitis 5165heterozygoteVUS3- Undef
VUS3- Undef
Pancreatitis 5608heterozygoteVUS3- Undef
Pancreatitis 648heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Pancreatitis 4721heterozygoteCF-causing - Trans
varying clinical consequence- Undef
Pancreatitis 4692heterozygotevarying clinical consequence- Undef
CFTR-RD-causing- Undef
Pancreatitis 5070heterozygoteCFTR-RD-causing - Trans
non-CF- Undef
Pancreatitis 1044homozygotec.2657+5G>A - p.(=) - Trans
Pending (NBS) 4951heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Pending (NBS) 5817heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Pending (NBS) 1070heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Pending (NBS) 3512heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 3668heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Pending (NBS) 3672heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Pending (NBS) 3982heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 4122heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 3472heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 3442heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 4569heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Pending (NBS) 4555heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending (NBS) 4645heterozygoteCF-causing- Undef
VUS3- Undef
Pending (NBS) 4643heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Pending (NBS) 4616heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Pending (NBS) 5808heterozygoteCF-causing- Undef
VUS3- Undef
Pending (NBS) 4821heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Pending (NBS) 4694heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Pending (NBS) 951heterozygoteVUS2- Undef
CF-causing- Undef
likely CF- Undef
Pending (NBS) 944heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Pending (NBS) 991heterozygoteCFTR-RD-causing- Undef
varying clinical consequence- Undef
CFTR-RD-causing- Undef
Pending (NBS) 5820heterozygoteCF-causing- Undef
VUS3- Undef
CFTR-RD-causing- Undef
Pending (NBS) 803heterozygoteVUS2- Undef
CF-causing- Undef
Pending (NBS) 3478homozygotec.2657+66C>T - p.(=) - Trans
c.3472C>T - p.(Arg1158*) - Trans
c.350G>A - p.(Arg117His) - Trans
Pending (NBS) 4123homozygotec.350G>A - p.(Arg117His) - Trans
Pending (NBS) 4644homozygotec.1209G>C - p.(Glu403Asp) - Trans
c.2657+5G>A - p.(=) - Trans
Pending (NBS) 3667homozygotec.350G>A - p.(Arg117His) - Trans
Pending (NBS) 3663homozygotec.3472C>T - p.(Arg1158*) - Trans
c.350G>A - p.(Arg117His) - Trans
Bronchiectasis 1921heterozygoteCFTR-RD-causing - Trans
Bronchiectasis 2108heterozygoteCFTR-RD-causing - Trans
Bronchiectasis 2303heterozygoteVUS3 - Trans
Bronchiectasis 2308heterozygoteVUS3 - Trans
Bronchiectasis 1756heterozygoteCF-causing - Cis
Bronchiectasis 1761heterozygoteCF-causing - Cis
Bronchiectasis 2342heterozygoteCFTR-RD-causing - Trans
VUS3- Undef
Bronchiectasis 2406heterozygoteCFTR-RD-causing - Trans
CFTR-RD-causing- Undef
Bronchiectasis 2502heterozygoteCFTR-RD-causing - Trans
CFTR-RD-causing- Undef
VUS3- Undef
Bronchiectasis 1237heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Bronchiectasis 1068heterozygotelikely CFTR-RD - Cis
CF-causing - Trans
Bronchiectasis 4601heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Bronchiectasis 4811heterozygoteCF-causing- Undef
Bronchiectasis 5005heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Bronchiectasis 4657heterozygoteCF-causing - Trans
varying clinical consequence- Undef
Bronchiectasis 4725heterozygoteCF-causing - Trans
CFTR-RD-causing- Undef
Bronchiectasis 4734heterozygoteCF-causing - Trans
varying clinical consequence- Undef
Bronchiectasis 5076heterozygoteVUS3- Undef
Bronchiectasis 966heterozygoteVUS3- Undef
VUS3- Undef
Bronchiectasis 5126heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Bronchiectasis 777heterozygoteVUS3 - Trans
non-CF- Undef
Bronchiectasis 693homozygotec.137C>A - p.(Ala46Asp) - Trans
c.350G>A - p.(Arg117His) - Trans
c.580-92T>A - p.(=) - Trans
Asymptomatic compound heterozygote 4728heterozygoteCF-causing - Cis
VUS3 - Trans
Asymptomatic compound heterozygote 4736heterozygoteCFTR-RD-causing - Cis
VUS3 - Trans
Asymptomatic compound heterozygote 4955heterozygoteCFTR-RD-causing - Cis
CFTR-RD-causing - Trans
Asymptomatic compound heterozygote 5073heterozygoteCFTR-RD-causing- Undef
Asymptomatic compound heterozygote 5081heterozygoteCFTR-RD-causing- Undef
Asymptomatic compound heterozygote 558heterozygoteCF-causing - Cis
CFTR-RD-causing - Trans
Asymptomatic compound heterozygote 778heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Asymptomatic compound heterozygote 922heterozygoteVUS3- Undef
Asymptomatic compound heterozygote 925heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Asymptomatic compound heterozygote 959heterozygoteCFTR-RD-causing - Cis
VUS3 - Trans
Asymptomatic compound heterozygote 4961heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Asymptomatic compound heterozygote 5141heterozygoteCFTR-RD-causing- Undef
VUS3- Undef
Asymptomatic compound heterozygote 5218heterozygoteVUS2 - Cis
VUS3 - Trans
VUS3 - Trans
Asymptomatic compound heterozygote 5528heterozygoteVUS3- Undef
VUS1- Undef
Asymptomatic compound heterozygote 5745heterozygoteVUS3- Undef
VUS3- Undef
Asymptomatic compound heterozygote 5812heterozygoteCF-causing- Undef
Asymptomatic compound heterozygote 1083heterozygoteCF-causing - Cis
Asymptomatic compound heterozygote 1290heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Asymptomatic compound heterozygote 1879heterozygoteVUS3 - Trans
CF-causing- Undef
Asymptomatic compound heterozygote 5333heterozygotenon-CF- Undef
CFTR-RD-causing- Undef
Asymptomatic compound heterozygote 5598heterozygoteVUS3 - Cis
CF-causing - Trans
Asymptomatic compound heterozygote 5601heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
Asymptomatic compound heterozygote 5602heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
VUS3- Undef
Asymptomatic compound heterozygote 5964heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
Asymptomatic compound heterozygote 4259heterozygoteVUS3- Undef
CFTR-RD-causing- Undef
Asymptomatic compound heterozygote 4305heterozygoteCF-causing- Undef
VUS1- Undef
Asymptomatic compound heterozygote 5525homozygotec.4275T>A - p.(Asp1425Glu) - Trans
c.91C>T - p.(Arg31Cys) - Trans
Asymptomatic compound heterozygote 5362homozygotec.1696G>A - p.(Ala566Thr) - Trans
c.2743G>C - p.(Val915Leu) - Trans
Pending 243heterozygoteCFTR-RD-causing- Undef
Pending 1155heterozygoteCF-causing - Cis
VUS3 - Trans
Pending 5008heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Pending non-CF 5009heterozygoteVUS3- Undef
CF-causing- Undef
Pending non-CF 4825homozygotec.1327G>T - p.(Asp443Tyr) - Trans
c.2002C>T - p.(Arg668Cys) - Trans
c.274G>A - p.(Glu92Lys) - Trans
CRS-NP 5138heterozygoteCFTR-RD-causing- Undef
VUS3- Undef
CRS-NP 1554heterozygoteCF-causing- Undef
CRS-NP 5338heterozygoteCFTR-RD-causing- Undef
non-CF- Undef
Aquagenic palmoplantar keratoderma 5365heterozygoteVUS3- Undef
VUS3- Undef
varying clinical consequence- Undef
Aquagenic palmoplantar keratoderma 5304heterozygoteCFTR-RD-causing - Trans
varying clinical consequence- Undef
Aquagenic palmoplantar keratoderma 5613heterozygotenon-CF- Undef
Aquagenic palmoplantar keratoderma 4660homozygotec.2002C>T - p.(Arg668Cys) - Trans
c.2657+5G>A - 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.



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