| RS876657397 |
COL4A3
|
Health Risk |
Pathogenic |
Autosomal recessive Alport syndrome, Alport syndrome |
| RS876657398 |
HMX1
|
Health Risk |
Pathogenic |
Oculoauricular syndrome, Oculoauricular syndrome |
| RS876657399 |
SCN8A
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 13 |
| RS876657400 |
SLC6A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS876657401 |
SLC6A1
|
Health Risk |
Pathogenic |
Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS876657402 |
CLPB
|
Health Risk |
Pathogenic |
3-methylglutaconic aciduria, type VIIB |
| RS876657403 |
PYCR2
|
Health Risk |
Pathogenic |
Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10 |
| RS876657404 |
TBK1
|
Health Risk |
Pathogenic |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
| RS876657405 |
TBK1
|
Health Risk |
Likely pathogenic |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
| RS876657406 |
TBK1
|
Health Risk |
Pathogenic |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
| RS876657407 |
IBA57
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3 |
| RS876657410 |
FBN1
|
Health Risk |
Pathogenic |
Progeroid and marfanoid aspect-lipodystrophy syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome |
| RS876657411 |
NEFH
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth disease axonal type 2CC, Charcot-Marie-Tooth disease axonal type 2CC |
| RS876657412 |
NEFH
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease axonal type 2CC, Charcot-Marie-Tooth disease axonal type 2CC |
| RS876657413 |
ERLIN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 62, Hereditary spastic paraplegia |
| RS876657414 |
VWA3B
|
Health Risk |
Pathogenic |
Spinocerebellar ataxia, autosomal recessive 22 |
| RS876657415 |
MYO7A
|
Health Risk |
Pathogenic |
Usher syndrome type 1, Usher syndrome type 1 |
| RS876657418 |
PCDH15
|
Health Risk |
Likely pathogenic |
Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 23 |
| RS876657427 |
ABCC9
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O |
| RS876657439 |
CDH23
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS876657454 |
DNAH5
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia |
| RS876657463 |
ESRRB
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS876657467 |
GIPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS876657472 |
ADGRV1
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS876657491 |
LMNA
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Charcot-Marie-Tooth disease type 2 |
| RS876657494 |
LOXHD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS876657499 |
LOXHD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS876657502 |
LRTOMT
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS876657520 |
MYH9
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder |
| RS876657540 |
NEB
|
Health Risk |
Conflicting classifications of pathogenicity |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS876657555 |
OTOG
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS876657558 |
OTOG
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS876657563 |
PCDH15
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS876657578 |
RYR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype |
| RS876657615 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Tibial muscular dystrophy, Dilated cardiomyopathy 1G |
| RS876657624 |
USH1C
|
Health Risk |
Pathogenic |
Usher syndrome type 1C, Usher syndrome type 1C |
| RS876657627 |
USH2A
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS876657633 |
ABCA3
|
Health Risk |
Likely pathogenic |
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies, Diffuse interstitial pulmonary fibrosis |
| RS876657634 |
BAG3
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Myofibrillar myopathy 6 |
| RS876657635 |
CASQ2
|
Health Risk |
Likely pathogenic |
Catecholaminergic polymorphic ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS876657636 |
CDH23
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS876657637 |
DNAL1
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 16 |
| RS876657638 |
DSP
|
Health Risk |
Pathogenic/Likely pathogenic |
Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS876657639 |
EDA
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS876657640 |
EDA
|
Health Risk |
Likely pathogenic |
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS876657641 |
EDA
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypodontia, Hypohidrotic X-linked ectodermal dysplasia |
| RS876657642 |
EDA
|
Health Risk |
Likely pathogenic |
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS876657643 |
ESRRB
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS876657644 |
EYA4
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Dilated cardiomyopathy 1J |
| RS876657645 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS876657646 |
FLCN
|
Health Risk |
Conflicting classifications of pathogenicity |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS876657647 |
ADGRV1
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS876657648 |
LAMP2
|
Health Risk |
Likely pathogenic |
Danon disease, Danon disease |
| RS876657649 |
LMNA
|
Health Risk |
Likely pathogenic |
Laminopathy, Laminopathy |
| RS876657650 |
LMNA
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS876657651 |
MAP2K1
|
Health Risk |
Pathogenic |
RASopathy, Cardiofaciocutaneous syndrome 3 |
| RS876657652 |
MYO3A
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS876657653 |
MYO6
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 37 |
| RS876657654 |
MYO7A
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS876657655 |
MYO7A
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 2 |
| RS876657656 |
OTOG
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 18B |
| RS876657657 |
OTOG
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS876657658 |
OTOGL
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 84B |
| RS876657659 |
PKP2
|
Health Risk |
Likely pathogenic |
Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy |
| RS876657660 |
SOX10
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS876657661 |
TECTA
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS876657662 |
TPM1
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS876657663 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS876657664 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS876657665 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS876657666 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS876657667 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS876657668 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS876657669 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS876657670 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Cardiomyopathy |
| RS876657671 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS876657672 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS876657673 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS876657675 |
WFS1
|
Health Risk |
Likely pathogenic |
Wolfram-like syndrome, Rare genetic deafness |
| RS876657678 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS876657679 |
BRME1;CC2D1A
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal recessive 3 |
| RS876657680 |
CDH23
|
Health Risk |
Pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS876657682 |
CDH23
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Pituitary adenoma 5 |
| RS876657683 |
DNAI1
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary ciliary dyskinesia, DNAI1-related disorder |
| RS876657684 |
EDA
|
Health Risk |
Pathogenic |
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS876657685 |
EDA
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypohidrotic X-linked ectodermal dysplasia, EDA-related disorder |
| RS876657686 |
EDA
|
Health Risk |
Pathogenic |
Hypohidrotic X-linked ectodermal dysplasia, Anhidrotic ectodermal dysplasia |
| RS876657687 |
EDA
|
Health Risk |
Pathogenic |
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS876657688 |
EDNRB
|
Health Risk |
Pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS876657689 |
EYA1
|
Health Risk |
Pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS876657690 |
EYA1
|
Health Risk |
Pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS876657691 |
EYA1
|
Health Risk |
Pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS876657692 |
GIPC3
|
Health Risk |
Pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS876657693 |
GJB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS876657694 |
ADGRV1
|
Health Risk |
Pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS876657695 |
ADGRV1
|
Health Risk |
Pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS876657696 |
LAMP2
|
Health Risk |
Pathogenic |
Danon disease, Danon disease |
| RS876657697 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS876657698 |
MITF
|
Health Risk |
Pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS876657699 |
MITF
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Waardenburg syndrome type 2A |