| RS2059972276 |
TCF4
|
Health Risk |
Pathogenic |
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2059973359 |
TCF4
|
Health Risk |
Pathogenic |
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2059978690 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2059988348 |
LGI1
|
Health Risk |
Pathogenic |
Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features |
| RS2060029845 |
COL13A1
|
Health Risk |
Likely pathogenic |
— |
| RS2060050669 |
GBF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Motor axonal neuropathy, Charcot-Marie-Tooth Disease |
| RS2060052777 |
SH2D1A
|
Health Risk |
Likely pathogenic |
X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS2060059941 |
EML1
|
Health Risk |
Pathogenic |
Band heterotopia of brain, Band heterotopia of brain |
| RS2060062099 |
NFIB
|
Health Risk |
Conflicting classifications of pathogenicity |
Macrocephaly, acquired |
| RS2060064534 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2060074543 |
NFIB
|
Health Risk |
Likely pathogenic |
— |
| RS2060083691 |
COL4A4
|
Health Risk |
Conflicting classifications of pathogenicity |
Hematuria, benign familial |
| RS2060086619 |
COL4A4
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2060106818 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2060108128 |
FRMPD4
|
Health Risk |
Pathogenic |
Thyroid cancer, nonmedullary |
| RS2060118585 |
EML1
|
Health Risk |
Likely pathogenic |
Band heterotopia of brain, Band heterotopia of brain |
| RS2060119917 |
TRIP12
|
Health Risk |
Pathogenic/Likely pathogenic |
Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS2060122241 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2060125843 |
TTN
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2060144762 |
SEC23B
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital dyserythropoietic anemia, type II |
| RS2060160575 |
TCF12
|
Health Risk |
Likely pathogenic |
— |
| RS2060161763 |
GBF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Motor axonal neuropathy, Charcot-Marie-Tooth Disease |
| RS2060169705 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2060173229 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2060187635 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2060222738 |
ABAT
|
Health Risk |
Conflicting classifications of pathogenicity |
Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency |
| RS2060258573 |
TBX2
|
Health Risk |
Likely pathogenic |
Vertebral anomalies and variable endocrine and T-cell dysfunction, Vertebral anomalies and variable endocrine and T-cell dysfunction |
| RS2060282891 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2060303115 |
SEC23B
|
Health Risk |
Pathogenic |
— |
| RS2060303450 |
SEC23B
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital dyserythropoietic anemia, type II |
| RS2060330825 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2060340440 |
COL4A4
|
Health Risk |
Likely pathogenic |
Benign familial hematuria, Autosomal dominant Alport syndrome |
| RS2060355104 |
TBCD
|
Health Risk |
Pathogenic |
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS2060398790 |
CDK10
|
Health Risk |
Pathogenic |
Al Kaissi syndrome, Al Kaissi syndrome |
| RS2060399733 |
CDK10
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2060408042 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2060408311 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2060408539 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2060432508 |
ABAT
|
Health Risk |
Conflicting classifications of pathogenicity |
Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency |
| RS2060458735 |
MYT1L
|
Health Risk |
Pathogenic |
— |
| RS2060462273 |
HESX1
|
Health Risk |
Pathogenic |
Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES |
| RS2060466023 |
HESX1
|
Health Risk |
Pathogenic |
Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES |
| RS2060470205 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2060519888 |
COL4A4
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2060521579 |
COL4A4
|
Health Risk |
Likely pathogenic |
Nephrotic syndrome, Nephrotic syndrome |
| RS2060521689 |
COL4A4
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2060536584 |
CACNA1C
|
Health Risk |
Likely pathogenic |
Intellectual disability, Intellectual disability |
| RS2060537889 |
ATP2B2
|
Health Risk |
Pathogenic |
Hearing loss, autosomal dominant 82 |
| RS2060541274 |
GBF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Motor axonal neuropathy, Charcot-Marie-Tooth Disease |
| RS2060570009 |
ALG12
|
Health Risk |
Conflicting classifications of pathogenicity |
ALG12-congenital disorder of glycosylation, Inborn genetic diseases |
| RS2060611603 |
RFXANK
|
Health Risk |
Pathogenic |
MHC class II deficiency, MHC class II deficiency |
| RS2060617981 |
PMM2
|
Health Risk |
Pathogenic/Likely pathogenic |
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS2060618497 |
PMM2
|
Health Risk |
Conflicting classifications of pathogenicity |
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS2060619071 |
TCF12
|
Health Risk |
Pathogenic |
TCF12-related craniosynostosis, TCF12-related craniosynostosis |
| RS2060619548 |
CYP11A1
|
Health Risk |
Pathogenic |
Congenital adrenal insufficiency with 46, XY sex reversal OR 46 |
| RS2060620860 |
COL4A4
|
Health Risk |
Pathogenic |
Alport syndrome, COL4A4-related disorder |
| RS2060621902 |
COL4A4
|
Health Risk |
Conflicting classifications of pathogenicity |
Glomerulonephritis, Glomerulonephritis |
| RS2060622260 |
CDK10
|
Health Risk |
Pathogenic/Likely pathogenic |
Al Kaissi syndrome, Al Kaissi syndrome |
| RS2060622881 |
COL4A4
|
Health Risk |
Likely pathogenic |
Benign familial hematuria, Autosomal dominant Alport syndrome |
| RS2060625814 |
CYP11A1
|
Health Risk |
Likely pathogenic |
Congenital adrenal insufficiency with 46, XY sex reversal OR 46 |
| RS2060627551 |
CYP11A1
|
Health Risk |
Pathogenic |
— |
| RS2060634316 |
RFXANK
|
Health Risk |
Likely pathogenic |
MHC class II deficiency, MHC class II deficiency |
| RS2060637524 |
TENM1
|
Health Risk |
Likely pathogenic |
Moyamoya angiopathy, Moyamoya angiopathy |
| RS2060637616 |
PMM2
|
Health Risk |
Pathogenic |
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS2060639466 |
CYP11A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital adrenal insufficiency with 46, XY sex reversal OR 46 |
| RS2060639501 |
CYP11A1
|
Health Risk |
Likely pathogenic |
Congenital adrenal insufficiency with 46, XY sex reversal OR 46 |
| RS2060647574 |
PMM2
|
Health Risk |
Likely pathogenic |
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS2060647914 |
PMM2
|
Health Risk |
Likely pathogenic |
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS2060654004 |
TBX4
|
Health Risk |
Likely pathogenic |
Pulmonary hypertension, primary |
| RS2060654742 |
TBX4
|
Health Risk |
Likely pathogenic |
Coxopodopatellar syndrome, Coxopodopatellar syndrome |
| RS2060671183 |
COL4A4
|
Health Risk |
Pathogenic |
— |
| RS2060673883 |
COL4A4
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive Alport syndrome, Hematuria |
| RS2060674137 |
COL4A4
|
Health Risk |
Pathogenic |
Alport syndrome, Alport syndrome |
| RS2060674564 |
PMM2
|
Health Risk |
Conflicting classifications of pathogenicity |
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS2060674596 |
PMM2
|
Health Risk |
Likely pathogenic |
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS2060678732 |
PMM2
|
Health Risk |
Pathogenic/Likely pathogenic |
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS2060686207 |
PMM2
|
Health Risk |
Likely pathogenic |
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS2060686245 |
PMM2
|
Health Risk |
Pathogenic/Likely pathogenic |
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS2060686496 |
PMM2
|
Health Risk |
Pathogenic/Likely pathogenic |
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS2060689253 |
AQP2
|
Health Risk |
Pathogenic |
— |
| RS2060720733 |
RFXANK
|
Health Risk |
Pathogenic/Likely pathogenic |
MHC class II deficiency, MHC class II deficiency |
| RS2060737432 |
ITGB4
|
Health Risk |
Pathogenic |
— |
| RS2060771091 |
ITGB4
|
Health Risk |
Pathogenic |
Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia |
| RS2060850988 |
HUWE1
|
Health Risk |
Conflicting classifications of pathogenicity |
HUWE1-related neurodevelopmental disorder, Inborn genetic diseases |
| RS2060870463 |
ITGB4
|
Health Risk |
Pathogenic |
Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia |
| RS2060937980 |
PMM2
|
Health Risk |
Pathogenic/Likely pathogenic |
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS2060983144 |
CACNA1A
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 42 |
| RS2060993180 |
COL4A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome |
| RS2060993539 |
COL4A4
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2060994526 |
COL4A4
|
Health Risk |
Likely pathogenic |
Benign familial hematuria, Autosomal recessive Alport syndrome |
| RS2060994755 |
COL4A4
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS2061001234 |
ITGB4
|
Health Risk |
Pathogenic |
Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia |
| RS2061011355 |
SCN5A
|
Health Risk |
Conflicting classifications of pathogenicity |
Left ventricular noncompaction 1, 8 conditions |
| RS2061011908 |
COL4A4
|
Health Risk |
Likely pathogenic |
— |
| RS2061020838 |
SCN5A
|
Health Risk |
Pathogenic |
— |
| RS2061022221 |
SCN5A
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiac arrhythmia, 8 conditions |
| RS2061022558 |
SCN5A
|
Health Risk |
Likely pathogenic |
Cardiac arrhythmia, Cardiac arrhythmia |
| RS2061024277 |
SCN5A
|
Health Risk |
Pathogenic |
— |
| RS2061027042 |
SCN5A
|
Health Risk |
Likely pathogenic |
Cardiac arrhythmia, Cardiac arrhythmia |
| RS2061028828 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |