| RS2485141190 |
SLC26A5
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 61, Autosomal recessive nonsyndromic hearing loss 61 |
| RS2485146017 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485146025 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485146150 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485146192 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485146231 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485146248 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485146298 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485146310 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485146410 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485146476 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1 |
| RS2485146562 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485146583 |
CFTR
|
Health Risk |
Likely pathogenic |
Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 1 |
| RS2485146738 |
CFTR
|
Health Risk |
Conflicting classifications of pathogenicity |
Cystic fibrosis, Cystic fibrosis |
| RS2485149361 |
RINT1
|
Health Risk |
Pathogenic |
— |
| RS2485150163 |
RINT1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2485150298 |
STAG3
|
Health Risk |
Likely pathogenic |
Premature ovarian failure 8, Premature ovarian failure 8 |
| RS2485154768 |
SLC26A5
|
Health Risk |
Likely pathogenic |
— |
| RS2485159817 |
CFTR
|
Health Risk |
Likely pathogenic |
Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 1 |
| RS2485159925 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485159928 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485159948 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485159953 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485159964 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485166999 |
CUX1
|
Health Risk |
Likely pathogenic |
Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS2485167836 |
SGCE
|
Health Risk |
Likely pathogenic |
Myoclonic dystonia 11, Myoclonic dystonia 11 |
| RS2485167934 |
SLC26A5
|
Health Risk |
Likely pathogenic |
— |
| RS2485168334 |
SGCE
|
Health Risk |
Pathogenic |
Myoclonic dystonia 11, Myoclonic dystonia 11 |
| RS2485169498 |
SGCE
|
Health Risk |
Pathogenic |
Myoclonic dystonia 11, Myoclonic dystonia 11 |
| RS2485169694 |
SGCE
|
Health Risk |
Pathogenic |
Myoclonic dystonia 11, Myoclonic dystonia 11 |
| RS2485171110 |
CFTR
|
Health Risk |
Pathogenic |
Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 1 |
| RS2485171208 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1 |
| RS2485171217 |
CFTR
|
Health Risk |
Likely pathogenic |
Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 1 |
| RS2485176623 |
RINT1
|
Health Risk |
Likely pathogenic |
— |
| RS2485181593 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Hereditary pancreatitis |
| RS2485181698 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485181726 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485181747 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485181753 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485181807 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485181856 |
RINT1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2485181943 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485183122 |
SGCE
|
Health Risk |
Likely pathogenic |
Myoclonic dystonia 11, Myoclonic dystonia 11 |
| RS2485184528 |
ELN
|
Health Risk |
Likely pathogenic |
— |
| RS2485185464 |
CFTR
|
Health Risk |
Likely pathogenic |
Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 1 |
| RS2485185627 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485185648 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485185679 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485185751 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485185956 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, Hereditary pancreatitis |
| RS2485192842 |
KCND2
|
Health Risk |
Likely pathogenic |
— |
| RS2485205855 |
RELN
|
Health Risk |
Likely pathogenic |
Familial temporal lobe epilepsy 7, Norman-Roberts syndrome |
| RS2485218609 |
CAV1
|
Health Risk |
Pathogenic |
Congenital generalized lipodystrophy type 3, Congenital generalized lipodystrophy type 3 |
| RS2485219428 |
CAV1
|
Health Risk |
Likely pathogenic |
CAV1-related disorder, CAV1-related disorder |
| RS2485219617 |
CAV1
|
Health Risk |
Likely pathogenic |
Partial lipodystrophy, congenital cataracts |
| RS2485264036 |
GLI3
|
Health Risk |
Pathogenic |
— |
| RS2485268325 |
ATP6V0A4
|
Health Risk |
Pathogenic |
ATP6V0A4-related disorder, ATP6V0A4-related disorder |
| RS2485278976 |
PODXL
|
Health Risk |
Pathogenic |
— |
| RS2485286473 |
ATP6V0A4
|
Health Risk |
Pathogenic |
— |
| RS2485294023 |
SYNE1
|
Health Risk |
Likely pathogenic |
Autosomal recessive ataxia, Beauce type |
| RS2485304481 |
FOXP2
|
Health Risk |
Pathogenic |
— |
| RS2485304607 |
FOXP2
|
Health Risk |
Pathogenic |
— |
| RS2485304675 |
FOXP2
|
Health Risk |
Pathogenic |
— |
| RS2485325706 |
SYNE1
|
Health Risk |
Pathogenic |
Autosomal recessive ataxia, Beauce type |
| RS2485332784 |
POT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome |
| RS2485333536 |
POT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome |
| RS2485334246 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome, Joubert syndrome |
| RS2485334624 |
CUX1
|
Health Risk |
Likely pathogenic |
— |
| RS2485337123 |
AHI1
|
Health Risk |
Likely pathogenic |
Joubert syndrome, Joubert syndrome |
| RS2485339769 |
TSPAN12
|
Health Risk |
Conflicting classifications of pathogenicity |
Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5 |
| RS2485339909 |
TSPAN12
|
Health Risk |
Pathogenic |
— |
| RS2485343245 |
CUX1
|
Health Risk |
Pathogenic |
Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS2485343633 |
ELN
|
Health Risk |
Pathogenic |
Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS2485345197 |
SYNE1
|
Health Risk |
Pathogenic |
Autosomal recessive ataxia, Beauce type |
| RS2485345263 |
POT1
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485345289 |
POT1
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485348829 |
TSPAN12
|
Health Risk |
Pathogenic |
— |
| RS2485348892 |
TSPAN12
|
Health Risk |
Pathogenic |
— |
| RS2485352293 |
POT1
|
Health Risk |
Likely pathogenic |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485352448 |
POT1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2485352489 |
POT1
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485352948 |
POT1
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, Dyskeratosis congenita |
| RS2485356440 |
GLE1
|
Health Risk |
Pathogenic |
— |
| RS2485363065 |
TSPAN12
|
Health Risk |
Pathogenic |
— |
| RS2485374029 |
POT1
|
Health Risk |
Likely pathogenic |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485374234 |
POT1
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485374557 |
POT1
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485379262 |
AGK
|
Health Risk |
Pathogenic |
Cataract 38, Sengers syndrome |
| RS2485379466 |
AGK
|
Health Risk |
Pathogenic |
Sengers syndrome, Cataract 38 |
| RS2485385008 |
ELN
|
Health Risk |
Pathogenic |
Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS2485385183 |
ELN
|
Health Risk |
Pathogenic |
Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS2485386367 |
FOXP2
|
Health Risk |
Likely pathogenic |
FOXP2-related disorder, FOXP2-related disorder |
| RS2485387302 |
AGK
|
Health Risk |
Pathogenic |
Sengers syndrome, Cataract 38 |
| RS2485391716 |
AGK
|
Health Risk |
Pathogenic |
Sengers syndrome, AGK-related disorder |
| RS2485394074 |
POT1
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485394271 |
POT1
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome |
| RS2485394827 |
POT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3 |
| RS2485394964 |
POT1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3 |
| RS2485395228 |
POT1
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485399712 |
SLC26A5
|
Health Risk |
Likely pathogenic |
— |