| RS2484973224 |
SGCE
|
Health Risk |
Pathogenic |
Myoclonic dystonia 11, Myoclonic dystonia 11 |
| RS2484973845 |
SGCE
|
Health Risk |
Pathogenic |
Myoclonic dystonia 11, Myoclonic dystonia 11 |
| RS2484973932 |
SGCE
|
Health Risk |
Pathogenic |
Myoclonic dystonia 11, Myoclonic dystonia 11 |
| RS2484974735 |
SGCE
|
Health Risk |
Pathogenic |
Myoclonic dystonia 11, Myoclonic dystonia 11 |
| RS2484975247 |
CFTR
|
Health Risk |
Likely pathogenic |
Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 1 |
| RS2484975271 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2484975593 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2484975614 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2484975661 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2484976439 |
AUTS2
|
Health Risk |
Likely pathogenic |
— |
| RS2484976975 |
AHI1
|
Health Risk |
Likely pathogenic |
Joubert syndrome, Joubert syndrome 3 |
| RS2484977012 |
AHI1
|
Health Risk |
Likely pathogenic |
Joubert syndrome, Joubert syndrome |
| RS2484978444 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2484986541 |
AUTS2
|
Health Risk |
Pathogenic |
— |
| RS2484986777 |
AUTS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Autism spectrum disorder, Autism spectrum disorder |
| RS2484993078 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2484993140 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2484993296 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2484993323 |
ASL
|
Health Risk |
Pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2484993553 |
ASL
|
Health Risk |
Pathogenic/Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2484993575 |
ASL
|
Health Risk |
Pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2484993652 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2484993660 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2484993833 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2484994019 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2484994153 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2484995497 |
ASL
|
Health Risk |
Pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2484995561 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2484995776 |
ASL
|
Health Risk |
Pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2484995844 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2484996309 |
RELN
|
Health Risk |
Pathogenic |
Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 |
| RS2484997333 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2484997376 |
ASL
|
Health Risk |
Conflicting classifications of pathogenicity |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2484997426 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2484998132 |
ASL
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2484998179 |
ASL
|
Health Risk |
Pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2484998272 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2484998286 |
ASL
|
Health Risk |
Pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2485000498 |
EPHB4
|
Health Risk |
Likely pathogenic |
EPHB4-associated vascular malformation spectrum, EPHB4-associated vascular malformation spectrum |
| RS2485000657 |
EPHB4
|
Health Risk |
Pathogenic |
Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2485000821 |
EPHB4
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2485000836 |
EPHB4
|
Health Risk |
Pathogenic |
Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2 |
| RS2485003454 |
EPHB4
|
Health Risk |
Likely pathogenic |
Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2 |
| RS2485005931 |
CUX1
|
Health Risk |
Likely pathogenic |
Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS2485007765 |
ASL
|
Health Risk |
Pathogenic/Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2485007913 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2485008020 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2485008761 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2485008786 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485008844 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485009015 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485009084 |
CFTR
|
Health Risk |
Conflicting classifications of pathogenicity |
Cystic fibrosis, CFTR-related disorder |
| RS2485009200 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485009619 |
CFTR
|
Health Risk |
Conflicting classifications of pathogenicity |
Cystic fibrosis, Cystic fibrosis |
| RS2485009643 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485009798 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485009815 |
CFTR
|
Health Risk |
Likely pathogenic |
Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 1 |
| RS2485011270 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2485011388 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2485011478 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2485013405 |
STAG3
|
Health Risk |
Likely pathogenic |
Premature ovarian failure 8, Premature ovarian failure 8 |
| RS2485013520 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2485013529 |
ASL
|
Health Risk |
Pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2485013582 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2485013627 |
ASL
|
Health Risk |
Pathogenic |
— |
| RS2485013685 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2485013731 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2485013779 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2485014145 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1 |
| RS2485014160 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485014422 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485014481 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485014544 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485014572 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485014993 |
CFTR
|
Health Risk |
Conflicting classifications of pathogenicity |
Cystic fibrosis, Cystic fibrosis |
| RS2485016159 |
EPHB4
|
Health Risk |
Pathogenic |
— |
| RS2485016589 |
EPHB4
|
Health Risk |
Pathogenic |
— |
| RS2485016873 |
CFTR
|
Health Risk |
Likely pathogenic |
Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 1 |
| RS2485017153 |
CFTR
|
Health Risk |
Conflicting classifications of pathogenicity |
Cystic fibrosis, Cystic fibrosis |
| RS2485017251 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2485017389 |
EPHB4
|
Health Risk |
Pathogenic |
— |
| RS2485017452 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2485018766 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2485019127 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome, Joubert syndrome |
| RS2485019558 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2485019671 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome, Joubert syndrome |
| RS2485019700 |
ASL
|
Health Risk |
Pathogenic/Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2485019781 |
EPHB4
|
Health Risk |
Likely pathogenic |
— |
| RS2485019975 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome, Joubert syndrome |
| RS2485019997 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485020029 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485020167 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485020199 |
CFTR
|
Health Risk |
Pathogenic |
CFTR-related disorder, Cystic fibrosis |
| RS2485020207 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485020327 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS2485020586 |
CFTR
|
Health Risk |
Likely pathogenic |
Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 1 |
| RS2485021324 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2485021515 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome, Joubert syndrome |
| RS2485021896 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome, Joubert syndrome |
| RS2485021945 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome, Joubert syndrome |