| RS397515541 |
DNAH5
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia |
| RS397515542 |
GATM
|
Health Risk |
Pathogenic |
Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |
| RS397515543 |
CPT1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS397515545 |
DCN
|
Health Risk |
Pathogenic |
Congenital stromal corneal dystrophy, Congenital stromal corneal dystrophy |
| RS397515546 |
MATN3
|
Health Risk |
Pathogenic/Likely pathogenic |
Multiple epiphyseal dysplasia type 5, Spondyloepimetaphyseal dysplasia |
| RS397515548 |
EZH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Weaver syndrome, EZH2-related disorder |
| RS397515550 |
SMS
|
Health Risk |
Likely pathogenic |
Syndromic X-linked intellectual disability Snyder type, SMS-related disorder |
| RS397515551 |
SMS
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type |
| RS397515553 |
SMS
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type |
| RS397515556 |
CSF1R
|
Health Risk |
Pathogenic |
Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids |
| RS397515557 |
CSF1R
|
Health Risk |
Pathogenic |
Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids |
| RS397515558 |
SLC6A8
|
Health Risk |
Likely pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS397515559 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS397515563 |
DNAI1
|
Health Risk |
Pathogenic |
Kartagener syndrome, Primary ciliary dyskinesia |
| RS397515564 |
WASHC5
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 8, Hereditary spastic paraplegia 8 |
| RS397515565 |
DNAI2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia 9, Primary ciliary dyskinesia |
| RS397515567 |
IFT122
|
Health Risk |
Pathogenic |
Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS397515572 |
SP110;SP140
|
Health Risk |
Pathogenic |
Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome |
| RS397515574 |
SLC46A1
|
Health Risk |
Pathogenic |
Congenital defect of folate absorption, Congenital defect of folate absorption |
| RS397515577 |
ATP1A3
|
Health Risk |
Likely pathogenic |
Dystonia 12, Dystonia 12 |
| RS397515581 |
OTOF
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS397515582 |
OTOF
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS397515583 |
OTOF
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS397515589 |
OTOF
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Bilateral sensorineural hearing impairment |
| RS397515590 |
OTOF
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS397515591 |
OTOF
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Rare genetic deafness |
| RS397515596 |
OTOF
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Bilateral sensorineural hearing impairment |
| RS397515597 |
OTOF
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Rare genetic deafness |
| RS397515598 |
OTOF
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Bilateral sensorineural hearing impairment |
| RS397515599 |
OTOF
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS397515601 |
OTOF
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS397515603 |
OTOF
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS397515605 |
OTOF
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Hearing loss |
| RS397515607 |
OTOF
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 9, Rare genetic deafness |
| RS397515608 |
OTOF
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Auditory neuropathy spectrum disorder |
| RS397515609 |
OTOF
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Bilateral sensorineural hearing impairment |
| RS397515610 |
OTOF
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS397515616 |
GLB1
|
Health Risk |
Likely pathogenic |
GM1 gangliosidosis type 2, Inborn genetic diseases |
| RS397515617 |
GLB1
|
Health Risk |
Pathogenic/Likely pathogenic |
GM1 gangliosidosis type 2, GM1 gangliosidosis |
| RS397515619 |
AURKC
|
Health Risk |
Pathogenic/Likely pathogenic |
Infertility associated with multi-tailed spermatozoa and excessive DNA, Infertility associated with multi-tailed spermatozoa and excessive DNA |
| RS397515620 |
BCAP31
|
Health Risk |
Pathogenic |
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome, Thyroid cancer |
| RS397515621 |
DNAAF4
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary ciliary dyskinesia 25, Dyslexia |
| RS397515622 |
DNAAF4
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia 25, Primary ciliary dyskinesia 25 |
| RS397515623 |
CRYAA
|
Health Risk |
Pathogenic |
Cataract 9 multiple types, Developmental cataract |
| RS397515624 |
CRYAA
|
Health Risk |
Pathogenic/Likely pathogenic |
Cataract 9, multiple types |
| RS397515625 |
CRYAA
|
Health Risk |
Pathogenic/Likely pathogenic |
Cataract 9, multiple types |
| RS397515626 |
CRYAA
|
Health Risk |
Pathogenic |
Cataract 9 multiple types, Cataract 9 multiple types |
| RS397515630 |
TPM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS397515631 |
PDGFB
|
Health Risk |
Pathogenic |
Basal ganglia calcification, idiopathic |
| RS397515632 |
PDGFB
|
Health Risk |
Pathogenic |
Basal ganglia calcification, idiopathic |
| RS397515633 |
PDGFB
|
Health Risk |
Pathogenic |
Basal ganglia calcification, idiopathic |
| RS397515634 |
UCHL1
|
Health Risk |
Pathogenic |
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome |
| RS397515635 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS397515636 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS397515637 |
KCNQ1
|
Health Risk |
Pathogenic |
Jervell and Lange-Nielsen syndrome 1, Jervell and Lange-Nielsen syndrome 1 |
| RS397515639 |
DSG1
|
Health Risk |
Pathogenic |
Palmoplantar keratoderma i, striate |
| RS397515640 |
DSG1
|
Health Risk |
Pathogenic |
Palmoplantar keratoderma i, striate |
| RS397515641 |
DSG1
|
Health Risk |
Pathogenic |
Palmoplantar keratoderma i, striate |
| RS397515732 |
APC
|
Health Risk |
Likely pathogenic |
Familial adenomatous polyposis 1, Familial multiple polyposis syndrome |
| RS397515733 |
APC
|
Health Risk |
Pathogenic |
Familial multiple polyposis syndrome, Familial multiple polyposis syndrome |
| RS397515734 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS397515735 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial multiple polyposis syndrome |
| RS397515738 |
TAFAZZIN
|
Health Risk |
Likely pathogenic |
3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS397515739 |
TAFAZZIN
|
Health Risk |
Conflicting classifications of pathogenicity |
3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS397515740 |
TAFAZZIN
|
Health Risk |
Likely pathogenic |
3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS397515741 |
TAFAZZIN
|
Health Risk |
Conflicting classifications of pathogenicity |
3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS397515742 |
TAFAZZIN
|
Health Risk |
Conflicting classifications of pathogenicity |
3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS397515745 |
TAFAZZIN
|
Health Risk |
Conflicting classifications of pathogenicity |
3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS397515746 |
TAFAZZIN
|
Health Risk |
Conflicting classifications of pathogenicity |
3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS397515747 |
TAFAZZIN
|
Health Risk |
Pathogenic |
3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS397515750 |
TAFAZZIN
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, 3-Methylglutaconic aciduria type 2 |
| RS397515752 |
EMD
|
Health Risk |
Conflicting classifications of pathogenicity |
X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy 1 |
| RS397515753 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515754 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515755 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515756 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections |
| RS397515757 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515758 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515759 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515760 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
8 conditions, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515761 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS397515762 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515764 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS397515765 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections |
| RS397515766 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515767 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515768 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515769 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515770 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515771 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515772 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515773 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515774 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515775 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515776 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515778 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515779 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515781 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515782 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515783 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |