| RS2485077946 |
BBS12
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS2485077960 |
BBS12
|
Health Risk |
Pathogenic/Likely pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome 12 |
| RS2485078040 |
BBS12
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485078084 |
BBS12
|
Health Risk |
Pathogenic/Likely pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome 12 |
| RS2485078123 |
BBS12
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485078182 |
BBS12
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS2485078325 |
BBS12
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS2485078351 |
BBS12
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS2485078438 |
BBS12
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485078441 |
BBS12
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485078798 |
BBS12
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485078835 |
BBS12
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485078915 |
BBS12
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485078970 |
BBS12
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485079012 |
BBS12
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2485099555 |
RINT1
|
Health Risk |
Pathogenic |
— |
| RS2485104048 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485104125 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485104134 |
CFTR
|
Health Risk |
Likely pathogenic |
Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 1 |
| RS2485104368 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485107275 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485107323 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485107328 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485107405 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485107502 |
SGCE
|
Health Risk |
Likely pathogenic |
Myoclonic dystonia 11, Myoclonic dystonia 11 |
| RS2485107870 |
SGCE
|
Health Risk |
Pathogenic |
Myoclonic dystonia 11, Myoclonic dystonia 11 |
| RS2485108635 |
SGCE
|
Health Risk |
Pathogenic |
Myoclonic dystonia 11, Myoclonic dystonia 11 |
| RS2485109059 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485109080 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485109117 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485109124 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485109141 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485109277 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485109280 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485109325 |
CFTR
|
Health Risk |
Likely pathogenic |
Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 1 |
| RS2485109352 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485109483 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485109512 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485109525 |
CFTR
|
Health Risk |
Pathogenic |
— |
| RS2485109541 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485109599 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1 |
| RS2485109603 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485109639 |
SGCE
|
Health Risk |
Likely pathogenic |
Myoclonic dystonia 11, Myoclonic dystonia 11 |
| RS2485109724 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485109812 |
SGCE
|
Health Risk |
Pathogenic |
Myoclonic dystonia 11, Myoclonic dystonia 11 |
| RS2485109867 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485110074 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485110261 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485110332 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485110441 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485110556 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485110559 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485110638 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485110649 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485110650 |
CFTR
|
Health Risk |
Likely pathogenic |
Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 1 |
| RS2485110841 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485110958 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485110962 |
CFTR
|
Health Risk |
Likely pathogenic |
Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 1 |
| RS2485111204 |
RELN
|
Health Risk |
Pathogenic |
— |
| RS2485113260 |
RINT1
|
Health Risk |
Likely pathogenic |
— |
| RS2485113849 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485114027 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485121072 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485121830 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485121950 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485121970 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Bronchiectasis with or without elevated sweat chloride 1, Cystic fibrosis |
| RS2485122171 |
CFTR
|
Health Risk |
Pathogenic |
Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 1 |
| RS2485122173 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485122177 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485122178 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485122195 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485122205 |
CFTR
|
Health Risk |
Likely pathogenic |
Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 1 |
| RS2485122435 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485122452 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485123020 |
RINT1
|
Health Risk |
Pathogenic |
— |
| RS2485125382 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485125404 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485128924 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485129063 |
CFTR
|
Health Risk |
Likely pathogenic |
Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 1 |
| RS2485129118 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485129172 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485130236 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485130252 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485130293 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485130489 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485130541 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485130569 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485130591 |
CFTR
|
Health Risk |
Likely pathogenic |
Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 1 |
| RS2485130667 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485130688 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485133677 |
RINT1
|
Health Risk |
Pathogenic |
— |
| RS2485133921 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485133928 |
CFTR
|
Health Risk |
Likely pathogenic |
— |
| RS2485133934 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485133957 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485134017 |
CFTR
|
Health Risk |
Likely pathogenic |
Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 1 |
| RS2485134077 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485134154 |
SGCE
|
Health Risk |
Conflicting classifications of pathogenicity |
Myoclonic dystonia 11, Myoclonic dystonia 11 |
| RS2485135007 |
SGCE
|
Health Risk |
Pathogenic |
Myoclonic dystonia 11, Myoclonic dystonia 11 |
| RS2485140568 |
ELN
|
Health Risk |
Pathogenic |
Supravalvar aortic stenosis, Supravalvar aortic stenosis |