| RS1574525321 |
SCN2A
|
Health Risk |
Likely pathogenic |
Epileptic encephalopathy, Epileptic encephalopathy |
| RS1574526903 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1574528825 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1574532220 |
SATB2
|
Health Risk |
Pathogenic |
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS1574532452 |
SATB2
|
Health Risk |
Likely pathogenic |
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS1574542732 |
CXCR2
|
Health Risk |
Likely pathogenic |
— |
| RS1574543988 |
CPS1
|
Health Risk |
Likely pathogenic |
Congenital hyperammonemia, type I |
| RS1574548003 |
CPS1
|
Health Risk |
Likely pathogenic |
Congenital hyperammonemia, type I |
| RS1574554519 |
SATB2
|
Health Risk |
Likely pathogenic |
Intellectual disability, Intellectual disability |
| RS1574554892 |
SCN2A
|
Health Risk |
Pathogenic |
Seizures, benign familial infantile |
| RS1574556643 |
SCN2A
|
Health Risk |
Likely pathogenic |
Seizures, benign familial infantile |
| RS1574558558 |
SLC19A3
|
Health Risk |
Pathogenic |
Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease |
| RS1574559518 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1574560025 |
SLC19A3
|
Health Risk |
Conflicting classifications of pathogenicity |
Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease |
| RS1574564600 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1574566578 |
CPS1
|
Health Risk |
Pathogenic |
Congenital hyperammonemia, type I |
| RS1574566640 |
CPS1
|
Health Risk |
Pathogenic |
Congenital hyperammonemia, type I |
| RS1574566768 |
SCN2A
|
Health Risk |
Pathogenic |
Seizures, benign familial infantile |
| RS1574566833 |
SATB2
|
Health Risk |
Pathogenic |
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS1574566973 |
SATB2
|
Health Risk |
Pathogenic |
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS1574567728 |
SCN2A
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS1574567901 |
CPS1
|
Health Risk |
Pathogenic |
Congenital hyperammonemia, type I |
| RS1574570125 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1574571769 |
SCN2A
|
Health Risk |
Likely pathogenic |
Seizures, benign familial infantile |
| RS1574572514 |
SCN2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Seizures, benign familial infantile |
| RS1574574226 |
UNC80
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypotonia, infantile |
| RS1574577755 |
CPS1
|
Health Risk |
Likely pathogenic |
Congenital hyperammonemia, type I |
| RS1574579609 |
UNC80
|
Health Risk |
Pathogenic |
Hypotonia, infantile |
| RS1574582671 |
TMEM237
|
Health Risk |
Pathogenic |
Joubert syndrome 14, Joubert syndrome 14 |
| RS1574584676 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1574586310 |
CPS1
|
Health Risk |
Likely pathogenic |
Congenital hyperammonemia, type I |
| RS1574587553 |
TMEM237
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome, Joubert syndrome 14 |
| RS1574594051 |
DYNC1I2
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with microcephaly and structural brain anomalies, Neurodevelopmental disorder with microcephaly and structural brain anomalies |
| RS1574596084 |
DYNC1I2
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with microcephaly and structural brain anomalies, Neurodevelopmental disorder with microcephaly |
| RS1574600309 |
HADHA
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS1574602991 |
HADHA
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS1574603062 |
HADHA
|
Health Risk |
Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency |
| RS1574611024 |
SCN2A
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS1574623071 |
HADHA
|
Health Risk |
Pathogenic |
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS1574624062 |
HADHA
|
Health Risk |
Likely pathogenic |
Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS1574628422 |
CFAP65
|
Health Risk |
Pathogenic |
Spermatogenic failure 40, Spermatogenic failure 40 |
| RS1574630583 |
CHRND
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1 |
| RS1574630951 |
CHRND
|
Health Risk |
Pathogenic |
Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS1574631977 |
CUL3
|
Health Risk |
Likely pathogenic |
NK-cell enteropathy, NK-cell enteropathy |
| RS1574632659 |
CPS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital hyperammonemia, type I |
| RS1574633904 |
CHRND
|
Health Risk |
Conflicting classifications of pathogenicity |
Slow-Channel Congenital Myasthenia Syndrome, Lethal multiple pterygium syndrome |
| RS1574636674 |
STAT1
|
Health Risk |
Likely pathogenic |
Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases |
| RS1574636716 |
SCN2A
|
Health Risk |
Likely pathogenic |
Seizures, benign familial infantile |
| RS1574636792 |
SCN2A
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS1574640523 |
STAT1
|
Health Risk |
Likely pathogenic |
— |
| RS1574641366 |
SCN2A
|
Health Risk |
Pathogenic |
— |
| RS1574641522 |
SCN2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy, 11 |
| RS1574641605 |
SCN2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Seizures, benign familial infantile |
| RS1574643342 |
CHRNG
|
Health Risk |
Pathogenic |
Autosomal recessive multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome |
| RS1574645121 |
CHRNG
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1 |
| RS1574645299 |
SATB2
|
Health Risk |
Pathogenic |
— |
| RS1574645416 |
SATB2
|
Health Risk |
Pathogenic |
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS1574646079 |
CPS1
|
Health Risk |
Likely pathogenic |
Congenital hyperammonemia, type I |
| RS1574646155 |
PAX3
|
Health Risk |
Pathogenic |
Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS1574648919 |
STAT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome |
| RS1574648928 |
STAT1
|
Health Risk |
Pathogenic |
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome |
| RS1574653439 |
STAT1
|
Health Risk |
Likely pathogenic |
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome |
| RS1574655402 |
ALS2
|
Health Risk |
Likely pathogenic |
6 conditions, 6 conditions |
| RS1574657735 |
STAT1
|
Health Risk |
Likely pathogenic |
Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases |
| RS1574657750 |
STAT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Inherited Immunodeficiency Diseases, Immunodeficiency 31B |
| RS1574657762 |
STAT1
|
Health Risk |
Likely pathogenic |
Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases |
| RS1574658390 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS1574659116 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS1574661904 |
PAX3
|
Health Risk |
Pathogenic |
Ocular albinism with congenital sensorineural hearing loss, Ocular albinism with congenital sensorineural hearing loss |
| RS1574662128 |
PAX3
|
Health Risk |
Pathogenic |
— |
| RS1574662730 |
HADHB
|
Health Risk |
Conflicting classifications of pathogenicity |
Mitochondrial trifunctional protein deficiency 2, Mitochondrial trifunctional protein deficiency 2 |
| RS1574663066 |
FASTKD2
|
Health Risk |
Pathogenic |
Leigh syndrome, Combined oxidative phosphorylation deficiency 44 |
| RS1574663316 |
HADHB
|
Health Risk |
Likely pathogenic |
Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS1574664203 |
SCN2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Seizures, benign familial infantile |
| RS1574665867 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1574672718 |
STAT1
|
Health Risk |
Likely pathogenic |
Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases |
| RS1574674108 |
COL4A3
|
Health Risk |
Likely pathogenic |
Hereditary hearing loss and deafness, Hereditary hearing loss and deafness |
| RS1574674545 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS1574675683 |
FASTKD2
|
Health Risk |
Pathogenic |
Leigh syndrome, Combined oxidative phosphorylation deficiency 44 |
| RS1574675756 |
FASTKD2
|
Health Risk |
Likely pathogenic |
Mitochondrial complex IV deficiency, nuclear type 1 |
| RS1574681401 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS1574691534 |
SCN2A
|
Health Risk |
Likely pathogenic |
Complex neurodevelopmental disorder, Complex neurodevelopmental disorder |
| RS1574697769 |
SCN2A
|
Health Risk |
Likely pathogenic |
Seizures, benign familial infantile |
| RS1574698048 |
ALS2
|
Health Risk |
Pathogenic |
Juvenile primary lateral sclerosis, Juvenile primary lateral sclerosis |
| RS1574698507 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Alport syndrome |
| RS1574699806 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome |
| RS1574701592 |
COL6A3
|
Health Risk |
Likely pathogenic |
Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma |
| RS1574701742 |
BARD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1574701767 |
COL4A3
|
Health Risk |
Pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS1574702099 |
BARD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1574703115 |
BARD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1574703604 |
BARD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1574706516 |
BARD1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1574706907 |
BARD1
|
Health Risk |
Likely pathogenic |
Multiple myeloma, Multiple myeloma |
| RS1574706911 |
SCN9A
|
Health Risk |
Likely pathogenic |
Neuropathy, hereditary sensory and autonomic |
| RS1574709001 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1574716488 |
SCN2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Seizures, benign familial infantile |
| RS1574716524 |
SCN2A
|
Health Risk |
Likely pathogenic |
Seizures, benign familial infantile |
| RS1574719512 |
COL6A3
|
Health Risk |
Pathogenic |
Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS1574724863 |
COL6A3
|
Health Risk |
Pathogenic |
Bethlem myopathy 1A, Bethlem myopathy 1A |