Variation |
Location |
Effect |
Review status |
URL |
c.-947g |
promoter; see TF sites |
? |
5'UTR |
CFTR1 |
c.-887C>T |
promoter; see TF sites |
? |
not provided |
ClinVar |
c.-812T>G |
promoter; see TF sites |
? |
not provided |
ClinVar |
c.-495C>T |
promoter; see TF sites |
? |
not provided |
ClinVar |
c.-461A>G |
promoter; see TF sites |
N |
Likely benign |
ClinVar |
c.-9_14del23 |
promoter; see TF sites |
D |
CF-causing |
CFTR2 |
c.-8G>C |
promoter; see TF sites |
N |
Benign |
ClinVar |
c.-4G>C |
promoter; see TF sites |
N |
Likely benign |
ClinVar |
c.(?_1)_(53+1_54-1)del |
promoter; see TF sites |
D |
CF-causing |
CFTR2 |
c.53+1G>T |
intron 1 |
D |
Likely pathogenic |
ClinVar |
c.53+1G>T |
intron 1 |
D |
CF-causing |
CFTR2 |
c.53+4A>T |
intron 1 |
? |
not provided |
ClinVar |
c.54-5940_273+10250del21kb |
intron 1 |
D |
CF-causing |
CFTR2 |
c.54-13C>G |
intron 1 |
? |
not provided |
ClinVar |
c.164+1G>A |
intron 2 |
? |
not provided |
ClinVar |
c.164+1G>A |
intron 2 |
D |
CF-causing |
CFTR2 |
c.164+1G>C |
intron 2 |
? |
not provided |
ClinVar |
c.164+1G>T |
intron 2 |
? |
not provided |
ClinVar |
c.164+1G>T |
intron 2 |
D |
CF-causing |
CFTR2 |
c.164+2T>A |
intron 2 |
? |
not provided |
ClinVar |
c.164+2T>C |
intron 2 |
? |
not provided |
ClinVar |
c.164+2T>G |
intron 2 |
? |
not provided |
ClinVar |
c.164+9A>T |
intron 2 |
? |
not provided |
ClinVar |
c.164+12T>C |
intron 2 |
? |
not provided |
ClinVar |
c.165-50A>G |
intron 2 |
? |
not provided |
ClinVar |
c.165-10T>G |
intron 2 |
? |
not provided |
ClinVar |
c.165-3C>A |
intron 2 |
? |
not provided |
ClinVar |
c.165-3C>T |
intron 2 |
D |
Likely pathogenic |
ClinVar |
c.165-1G>A |
intron 2 |
? |
not provided |
ClinVar |
c.165-1G>A |
intron 2 |
D |
CF-causing |
CFTR2 |
c.273+1G>A |
intron 3 |
D |
Pathogenic |
ClinVar |
c.273+1G>A |
intron 3 |
D |
CF-causing |
CFTR2 |
c.273+3A>C |
intron 3 |
D |
Likely pathogenic |
ClinVar |
c.273+3A>C |
intron 3 |
D |
CF-causing |
CFTR2 |
c.273+4A>G |
intron 3 |
D |
Pathogenic |
ClinVar |
c.274-10C>G |
intron 3 |
? |
not provided |
ClinVar |
c.274-2A>G |
intron 3 |
? |
not provided |
ClinVar |
c.274-1G>A |
intron 3 |
D |
Pathogenic |
ClinVar |
c.274-1G>A |
intron 3 |
D |
CF-causing |
CFTR2 |
c.274-1G>C |
intron 3 |
? |
not provided |
ClinVar |
c.274-1G>T |
intron 3 |
? |
not provided |
ClinVar |
c.489+1G>T |
intron 4 |
D |
Pathogenic |
ClinVar |
c.489+1G>T |
intron 4 |
D |
CF-causing |
CFTR2 |
c.489+2T>C |
intron 4 |
? |
not provided |
ClinVar |
c.489+2T>G |
intron 4 |
? |
not provided |
ClinVar |
c.489+3A>G |
intron 4 |
? |
Varying clinical consequence |
CFTR2 |
c.489+8T>C |
intron 4 |
N |
Likely benign |
ClinVar |
c.490-116A>G |
intron 4 |
? |
not provided |
ClinVar |
c.490-2A>G |
intron 4 |
? |
not provided |
ClinVar |
c.490-1G>A |
intron 4 |
? |
not provided |
ClinVar |
c.579+1G>T |
intron 5 |
D |
Pathogenic |
ClinVar |
c.579+1G>T |
intron 5 |
D |
CF-causing |
CFTR2 |
c.579+3A>C |
intron 5 |
? |
not provided |
ClinVar |
c.579+3A>G |
intron 5 |
D |
Pathogenic |
ClinVar |
c.579+3A>G |
intron 5 |
D |
CF-causing |
CFTR2 |
c.579+3A>T |
intron 5 |
? |
not provided |
ClinVar |
c.579+5G>A |
intron 5 |
D |
Pathogenic |
ClinVar |
c.579+5G>A |
intron 5 |
D |
CF-causing |
CFTR2 |
c.580-92T>A |
intron 5 |
? |
not provided |
ClinVar |
c.580-1G>T |
intron 5 |
D |
Pathogenic |
ClinVar |
c.580-1G>T |
intron 5 |
D |
CF-causing |
CFTR2 |
c.743+1G>A |
intron 6 |
? |
not provided |
ClinVar |
c.743+1G>C |
intron 6 |
D |
Likely pathogenic |
ClinVar |
c.743+4G>T |
intron 6 |
? |
Uncertain significance |
ClinVar |
c.869+11C>T |
intron 7 |
N |
Benign |
ClinVar |
c.870-3T>G |
intron 7 |
? |
not provided |
ClinVar |
c.1116+1G>A |
intron 8 |
D |
Pathogenic |
ClinVar |
c.1116+1G>A |
intron 8 |
D |
CF-causing |
CFTR2 |
c.1116+1G>C |
intron 8 |
? |
not provided |
ClinVar |
c.1116+17C>T |
intron 8 |
? |
not provided |
ClinVar |
c.1117-1G>A |
intron 8 |
D |
CF-causing |
CFTR2 |
c.1209+1G>A |
intron 9 |
D |
Pathogenic |
ClinVar |
c.1209+1G>A |
intron 9 |
D |
CF-causing |
CFTR2 |
c.1209+18A>C |
intron 9 |
? |
Uncertain significance |
ClinVar |
c.1210-13G>T |
intron 9 |
N |
Benign |
ClinVar |
c.1210-11T>G |
intron 9 |
D |
Likely pathogenic |
ClinVar |
c.1210-2A>C |
intron 9 |
? |
not provided |
ClinVar |
c.1210-1G>C |
intron 9 |
? |
not provided |
ClinVar |
c.1392+1G>A |
intron 10 |
? |
not provided |
ClinVar |
c.1393-18G>A |
intron 10 |
? |
not provided |
ClinVar |
c.1393-2A>G |
intron 10 |
? |
not provided |
ClinVar |
c.1393-2A>G |
intron 10 |
D |
CF-causing |
CFTR2 |
c.1393-1G>A |
intron 10 |
D |
Pathogenic |
ClinVar |
c.1393-1G>A |
intron 10 |
D |
CF-causing |
CFTR2 |
c.1584+1G>A |
intron 11 |
? |
not provided |
ClinVar |
c.1584+1G>T |
intron 11 |
? |
not provided |
ClinVar |
c.1584+2T>C |
intron 11 |
? |
not provided |
ClinVar |
c.1584+12T>C |
intron 11 |
? |
Uncertain significance |
ClinVar |
c.1584+18672A>G |
intron 11 |
? |
not provided |
ClinVar |
c.1585-9T>A |
intron 11 |
? |
not provided |
ClinVar |
c.1585-8G>A |
intron 11 |
D |
Pathogenic |
ClinVar |
c.1585-8G>A |
intron 11 |
D |
CF-causing |
CFTR2 |
c.1585-2A>G |
intron 11 |
? |
not provided |
ClinVar |
c.1585-1G>A |
intron 11 |
D |
Pathogenic |
ClinVar |
c.1585-1G>A |
intron 11 |
D |
CF-causing |
CFTR2 |
c.1679+1.6kbA>G |
intron 12 |
D |
CF-causing |
CFTR2 |
c.1679+1G>A |
intron 12 |
D |
CF-causing |
CFTR2 |
c.1679+1G>C |
intron 12 |
? |
not provided |
ClinVar |
c.1679+1G>C |
intron 12 |
D |
CF-causing |
CFTR2 |
c.1679+5A>G |
intron 12 |
? |
not provided |
ClinVar |
c.1679+16T>C |
intron 12 |
? |
not provided |
ClinVar |
c.1679+18G>A |
intron 12 |
? |
not provided |
ClinVar |
c.1680-981T>C |
intron 12 |
? |
not provided |
ClinVar |
c.1680-886A>G |
intron 12 |
? |
not provided |
ClinVar |
c.1679+1643G>T |
intron 12 |
? |
not provided |
ClinVar |
c.1680-870T>A |
intron 12 |
N |
Benign |
ClinVar |
c.1680-26T>C |
intron 12 |
? |
not provided |
ClinVar |
c.1680-1G>A |
intron 12 |
D |
Pathogenic |
ClinVar |
c.1680-1G>A |
intron 12 |
D |
CF-causing |
CFTR2 |
c.1766+1G->C |
intron 13 |
D |
CF-causing |
CFTR2 |
c.1766+1G>A |
intron 13 |
D |
CF-causing |
CFTR2 |
c.1766+1G>C |
intron 13 |
? |
not provided |
ClinVar |
c.1766+1G>T |
intron 13 |
? |
not provided |
ClinVar |
c.1766+3A>C |
intron 13 |
? |
not provided |
ClinVar |
c.1766+3A>G |
intron 13 |
D |
Pathogenic |
ClinVar |
c.1766+3A>G |
intron 13 |
D |
CF-causing |
CFTR2 |
c.1766+5G>A |
intron 13 |
? |
not provided |
ClinVar |
c.1766+5G>T |
intron 13 |
? |
not provided |
ClinVar |
c.1766+73T>G |
intron 13 |
? |
not provided |
ClinVar |
c.2490+1G>A |
intron 14 |
D |
Pathogenic |
ClinVar |
c.2490+1G>A |
intron 14 |
D |
CF-causing |
CFTR2 |
c.2491-23A>G |
intron 14 |
? |
not provided |
ClinVar |
c.2491-11C>T |
intron 14 |
? |
not provided |
ClinVar |
c.2491-2A>G |
intron 14 |
? |
not provided |
ClinVar |
c.2619+2T>A |
intron 15 |
? |
not provided |
ClinVar |
c.2619+3A>G |
intron 15 |
? |
not provided |
ClinVar |
c.2620-26A>G |
intron 15 |
? |
not provided |
ClinVar |
c.2620-26A>G |
intron 15 |
? |
Varying clinical consequence |
CFTR2 |
c.2620-15C>G |
intron 15 |
? |
Uncertain significance |
ClinVar |
c.2620-6T>C |
intron 15 |
? |
not provided |
ClinVar |
c.2620-1G>C |
intron 15 |
? |
not provided |
ClinVar |
c.2620-1G>T |
intron 15 |
? |
not provided |
ClinVar |
c.2657+2_2657+3insA |
intron 16 |
? |
Unknown significance |
CFTR2 |
c.2657+5G>A |
intron 16 |
D |
Pathogenic |
ClinVar |
c.2657+5G>A |
intron 16 |
D |
CF-causing |
CFTR2 |
c.2658-107G>C |
intron 16 |
? |
not provided |
ClinVar |
c.2658-1G>C |
intron 16 |
D |
CF-causing |
CFTR2 |
c.2658-1G>T |
intron 16 |
? |
not provided |
ClinVar |
c.2908+2T>C |
intron 17 |
? |
not provided |
ClinVar |
c.2909-15T>G |
intron 17 |
? |
not provided |
ClinVar |
c.2909-4A>G |
intron 17 |
? |
not provided |
ClinVar |
c.2909-1G>A |
intron 17 |
? |
not provided |
ClinVar |
c.2988+1G>A |
intron 18 |
D |
Pathogenic |
ClinVar |
c.2988+1G>A |
intron 18 |
D |
CF-causing |
CFTR2 |
c.2989-977_3367+248del |
intron 18 |
D |
CF-causing |
CFTR2 |
c.2989-3C>G |
intron 18 |
? |
not provided |
ClinVar |
c.2989-2A>G |
intron 18 |
? |
not provided |
ClinVar |
c.2989-2A>G |
intron 18 |
D |
CF-causing |
CFTR2 |
c.2989-2A>T |
intron 18 |
D |
Likely pathogenic |
ClinVar |
c.2989-1G>A |
intron 18 |
D |
Pathogenic |
ClinVar |
c.2989-1G>A |
intron 18 |
D |
CF-causing |
CFTR2 |
c.3139+1G>A |
intron 19 |
? |
not provided |
ClinVar |
c.3139+1G>T |
intron 19 |
? |
not provided |
ClinVar |
c.3139+8A>G |
intron 19 |
? |
Uncertain significance |
ClinVar |
c.3139+18C>T |
intron 19 |
? |
Uncertain significance |
ClinVar |
c.3139+101C>G |
intron 19 |
? |
not provided |
ClinVar |
c.3140-26A>G |
intron 19 |
D |
Pathogenic |
ClinVar |
c.3140-26A>G |
intron 19 |
D |
CF-causing |
CFTR2 |
c.3140-4A>G |
intron 19 |
? |
not provided |
ClinVar |
c.3140-1G>A |
intron 19 |
? |
not provided |
ClinVar |
c.3367+2T>C |
intron 20 |
? |
not provided |
ClinVar |
c.3367+6A>G |
intron 20 |
? |
not provided |
ClinVar |
c.3368-2A>G |
intron 20 |
D |
Likely pathogenic |
ClinVar |
c.3368-2A>G |
intron 20 |
D |
CF-causing |
CFTR2 |
c.3368-1G>A |
intron 20 |
? |
not provided |
ClinVar |
c.3469-20T>C |
intron 21 |
D |
Pathogenic |
ClinVar |
c.3469-17T>C |
intron 21 |
? |
not provided |
ClinVar |
c.3469-2A>G |
intron 21 |
? |
not provided |
ClinVar |
c.3717+4A>G |
intron 22 |
D |
Pathogenic |
ClinVar |
c.3717+4A>G |
intron 22 |
D |
CF-causing |
CFTR2 |
c.3717+5G>A |
intron 22 |
D |
Likely pathogenic |
ClinVar |
c.3717+40A>G |
intron 22 |
? |
not provided |
ClinVar |
c.3717+45G>A |
intron 22 |
? |
not provided |
ClinVar |
c.3717+12191C>T |
intron 22 |
D |
Pathogenic |
ClinVar |
c.3717+12191C>T |
intron 22 |
D |
CF-causing |
CFTR2 |
c.3718-79T>C |
intron 22 |
? |
not provided |
ClinVar |
c.3718-3T>G |
intron 22 |
? |
not provided |
ClinVar |
c.3718-3T>G |
intron 22 |
D |
CF-causing |
CFTR2 |
c.3718-1G>A |
intron 22 |
D |
Pathogenic |
ClinVar |
c.3718-1G>A |
intron 22 |
D |
CF-causing |
CFTR2 |
c.3873+1G>A |
intron 23 |
D |
Pathogenic |
ClinVar |
c.3873+1G>A |
intron 23 |
D |
CF-causing |
CFTR2 |
c.3873+2T>C |
intron 23 |
? |
not provided |
ClinVar |
c.3873+33A>G |
intron 23 |
? |
not provided |
ClinVar |
c.3874-14C>G |
intron 23 |
? |
not provided |
ClinVar |
c.3874-8T>A |
intron 23 |
? |
not provided |
ClinVar |
c.3874-4A>G |
intron 23 |
? |
not provided |
ClinVar |
c.3874-1G>A |
intron 23 |
? |
not provided |
ClinVar |
c.3963+1G>A |
intron 24 |
D |
Pathogenic |
ClinVar |
c.3963+2T>A |
intron 24 |
? |
not provided |
ClinVar |
c.3964-78_4242+577del |
intron 24 |
D |
CF-causing |
CFTR2 |
c.3964-28G>A |
intron 24 |
? |
not provided |
ClinVar |
c.3964-16T>C |
intron 24 |
? |
Uncertain significance |
ClinVar |
c.3964-3C>G |
intron 24 |
? |
not provided |
ClinVar |
c.4242+1G>A |
intron 26 |
? |
not provided |
ClinVar |
c.4242+1G>A |
intron 26 |
D |
CF-causing |
CFTR2 |
c.4242+1G>T |
intron 26 |
D |
Likely pathogenic |
ClinVar |
c.4242+1G>T |
intron 26 |
D |
CF-causing |
CFTR2 |
c.4242+2T>C |
intron 26 |
D |
Likely pathogenic |
ClinVar |
c.4242+10T>C |
intron 26 |
N |
Benign |
ClinVar |
c.4242+13A>G |
intron 26 |
N |
Benign |
ClinVar |
c.4243-2A>C |
intron 26 |
? |
not provided |
ClinVar |
c.4243-1G>C |
intron 26 |
? |
not provided |
ClinVar |