| RS2152524628 |
MEF2C
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with hypotonia, stereotypic hand movements |
| RS2152535126 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2152543224 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2152544961 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2152547868 |
BRCA1
|
Health Risk |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2152554942 |
DST
|
Health Risk |
Pathogenic |
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3 |
| RS2152556195 |
DST
|
Health Risk |
Pathogenic |
Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2152561810 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2152563427 |
NBEA
|
Health Risk |
Likely pathogenic |
NBEA-related complex neurodevelopmental disorder, NBEA-related complex neurodevelopmental disorder |
| RS2152575457 |
BRCA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2152577516 |
DYNC1H1
|
Health Risk |
Pathogenic |
Abnormal cerebral morphology, Abnormal cerebral morphology |
| RS2152579365 |
DYNC1H1
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual disability, autosomal dominant 13 |
| RS2152581547 |
DYNC1H1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 13 |
| RS2152583773 |
DYNC1H1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 13 |
| RS2152584603 |
DYNC1H1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures |
| RS2152589131 |
DYNC1H1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 13 |
| RS2152589500 |
LOX
|
Health Risk |
Conflicting classifications of pathogenicity |
Aortic aneurysm, familial thoracic 10 |
| RS2152590132 |
DYNC1H1
|
Health Risk |
Likely pathogenic |
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures, Intellectual disability |
| RS2152590264 |
DYNC1H1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 13 |
| RS2152591288 |
DYNC1H1
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, autosomal dominant 13 |
| RS2152591662 |
LOX
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2152591749 |
LOX
|
Health Risk |
Pathogenic |
Aortic aneurysm, familial thoracic 10 |
| RS2152592115 |
DYNC1H1
|
Health Risk |
Likely pathogenic |
Abnormality of the nervous system, Abnormality of the nervous system |
| RS2152592151 |
DYNC1H1
|
Health Risk |
Likely pathogenic |
Neurodevelopmental delay, Neurodevelopmental delay |
| RS2152592202 |
DYNC1H1
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O |
| RS2152593686 |
DYNC1H1
|
Health Risk |
Likely pathogenic |
— |
| RS2152594747 |
DYNC1H1
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth disease axonal type 2O, Intellectual disability |
| RS2152594938 |
DYNC1H1
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual disability, autosomal dominant 13 |
| RS2152596521 |
DYNC1H1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 13 |
| RS2152598561 |
BRCA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2152610983 |
DST
|
Health Risk |
Pathogenic |
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3 |
| RS2152620357 |
NEB
|
Health Risk |
Conflicting classifications of pathogenicity |
Nemaline myopathy 2, Arthrogryposis multiplex congenita 6 |
| RS2152626377 |
NRXN1
|
Health Risk |
Pathogenic |
Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2 |
| RS2152627014 |
NRXN1
|
Health Risk |
Likely pathogenic |
Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2 |
| RS2152669802 |
MEF2C
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with hypotonia, stereotypic hand movements |
| RS2152674810 |
MEF2C
|
Health Risk |
Pathogenic |
— |
| RS2152678398 |
TENM3
|
Health Risk |
Pathogenic |
Microphthalmia, isolated |
| RS2152682705 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Abnormality of the musculature |
| RS2152683826 |
PCCA
|
Health Risk |
Pathogenic |
Propionic acidemia, Propionic acidemia |
| RS2152683847 |
UBE3A
|
Health Risk |
Likely pathogenic |
Angelman syndrome, Angelman syndrome |
| RS2152684235 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS2152688478 |
HSPG2
|
Health Risk |
Likely pathogenic |
— |
| RS2152689079 |
PSTPIP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Autoinflammatory syndrome |
| RS2152692650 |
PCCA
|
Health Risk |
Pathogenic |
Propionic acidemia, Propionic acidemia |
| RS2152692989 |
HSPG2
|
Health Risk |
Pathogenic |
— |
| RS2152693602 |
UBE3A
|
Health Risk |
Likely pathogenic |
Angelman syndrome, Angelman syndrome |
| RS2152694181 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS2152697284 |
NRXN1
|
Health Risk |
Likely pathogenic |
Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2 |
| RS2152697481 |
PCCA
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS2152697802 |
DST
|
Health Risk |
Likely pathogenic |
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3 |
| RS2152701181 |
UBE3A
|
Health Risk |
Likely pathogenic |
— |
| RS2152703859 |
HSPG2
|
Health Risk |
Pathogenic |
— |
| RS2152704005 |
HSPG2
|
Health Risk |
Likely pathogenic |
Lethal Kniest-like syndrome, Lethal Kniest-like syndrome |
| RS2152709004 |
NBEA
|
Health Risk |
Pathogenic |
— |
| RS2152715844 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2152715847 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2152720472 |
HSPG2
|
Health Risk |
Likely pathogenic |
— |
| RS2152721133 |
HSPG2
|
Health Risk |
Pathogenic |
Lethal Kniest-like syndrome, Lethal Kniest-like syndrome |
| RS2152728575 |
DYSF
|
Health Risk |
Likely pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Acute myeloid leukemia |
| RS2152728683 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2152728763 |
DYSF
|
Health Risk |
Likely pathogenic |
Abnormality of the musculature, Abnormality of the musculature |
| RS2152728832 |
DST
|
Health Risk |
Pathogenic |
Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2152729916 |
DST
|
Health Risk |
Pathogenic |
Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2152730317 |
HSPG2
|
Health Risk |
Pathogenic |
— |
| RS2152731563 |
DST
|
Health Risk |
Pathogenic |
— |
| RS2152731820 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2152731856 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2152731902 |
DYSF
|
Health Risk |
Pathogenic |
— |
| RS2152731932 |
DYSF
|
Health Risk |
Likely pathogenic |
— |
| RS2152731940 |
HSPG2
|
Health Risk |
Likely pathogenic |
— |
| RS2152733577 |
DST
|
Health Risk |
Pathogenic |
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3 |
| RS2152733805 |
PCCA
|
Health Risk |
Likely pathogenic |
Propionic acidemia, Propionic acidemia |
| RS2152734002 |
PCCA
|
Health Risk |
Likely pathogenic |
Propionic acidemia, Propionic acidemia |
| RS2152735062 |
HSPG2
|
Health Risk |
Pathogenic |
— |
| RS2152739843 |
DST
|
Health Risk |
Pathogenic |
— |
| RS2152742210 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1 |
| RS2152742282 |
DYSF
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2152746765 |
DST
|
Health Risk |
Pathogenic |
Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2152747090 |
HSPG2
|
Health Risk |
Pathogenic |
Lethal Kniest-like syndrome, Lethal Kniest-like syndrome |
| RS2152748581 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2152748641 |
DYSF
|
Health Risk |
Likely pathogenic |
— |
| RS2152748702 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2152748721 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2152749368 |
HSPG2
|
Health Risk |
Likely pathogenic |
— |
| RS2152749480 |
HSPG2
|
Health Risk |
Likely pathogenic |
— |
| RS2152751272 |
HSPG2
|
Health Risk |
Pathogenic |
— |
| RS2152751290 |
DYSF
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B |
| RS2152751353 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2152751675 |
DST
|
Health Risk |
Pathogenic |
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3 |
| RS2152756968 |
ATG7
|
Health Risk |
Pathogenic |
Spinocerebellar ataxia, autosomal recessive 31 |
| RS2152759445 |
DST
|
Health Risk |
Pathogenic |
Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2152759509 |
DST
|
Health Risk |
Pathogenic |
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3 |
| RS2152760370 |
BRCA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2152760967 |
DYSF
|
Health Risk |
Likely pathogenic |
Abnormality of the musculature, Abnormality of the musculature |
| RS2152761337 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2152761340 |
DYSF
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1 |
| RS2152762741 |
BRCA1
|
Health Risk |
Pathogenic |
Malignant tumor of breast, Malignant tumor of breast |
| RS2152763931 |
NEB
|
Health Risk |
Pathogenic/Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy |
| RS2152766936 |
DYSF
|
Health Risk |
Likely pathogenic |
— |
| RS2152767575 |
RYR3
|
Health Risk |
Pathogenic |
Hydrops fetalis, Hydrops fetalis |