| RS587779686 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779687 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779688 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779689 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779690 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779691 |
COL3A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779692 |
COL3A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779693 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779694 |
COL3A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779695 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779696 |
COL3A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779697 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779698 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779699 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779700 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779701 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779702 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779703 |
COL3A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779704 |
COL3A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779705 |
COL3A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779706 |
COL3A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779707 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779708 |
COL3A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779709 |
COL3A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779710 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779711 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779712 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779713 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779714 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779715 |
COL3A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779716 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779717 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779718 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779719 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779720 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779721 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779722 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779723 |
COL3A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779732 |
CC2D2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Meckel-Gruber syndrome, Joubert syndrome |
| RS587779733 |
CEP290
|
Health Risk |
Pathogenic/Likely pathogenic |
Meckel-Gruber syndrome, Nephronophthisis |
| RS587779736 |
TMEM67
|
Health Risk |
Pathogenic/Likely pathogenic |
Meckel-Gruber syndrome, Joubert syndrome |
| RS587779742 |
ARID1B
|
Health Risk |
Conflicting classifications of pathogenicity |
Coffin Siris/Intellectual Disability, Inborn genetic diseases |
| RS587779744 |
ARID1B
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS587779745 |
ARID1B
|
Health Risk |
Pathogenic |
Coffin Siris/Intellectual Disability, Coffin Siris/Intellectual Disability |
| RS587779746 |
ARID1B
|
Health Risk |
Pathogenic |
Coffin Siris/Intellectual Disability, Coffin Siris/Intellectual Disability |
| RS587779747 |
ARID1B
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, ARID1B-related disorder |
| RS587779750 |
SMARCA4
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 16 |
| RS587779752 |
LMBR1;ZRS
|
Health Risk |
Pathogenic/Likely pathogenic |
Triphalangeal thumb, Polydactyly of a triphalangeal thumb |
| RS587779765 |
TGM1
|
Health Risk |
Pathogenic |
Lamellar ichthyosis, Lamellar ichthyosis |
| RS587779766 |
AHDC1
|
Health Risk |
Pathogenic |
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, Sleep apnea |
| RS587779767 |
AHDC1
|
Health Risk |
Pathogenic |
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, Sleep apnea |
| RS587779768 |
AHDC1
|
Health Risk |
Pathogenic |
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, Sleep apnea |
| RS587779769 |
ACTB
|
Health Risk |
Conflicting classifications of pathogenicity |
Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1 |
| RS587779770 |
ACTB
|
Health Risk |
Pathogenic |
Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1 |
| RS587779771 |
ACTB
|
Health Risk |
Likely pathogenic |
Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1 |
| RS587779772 |
ACTB
|
Health Risk |
Conflicting classifications of pathogenicity |
Baraitser-Winter syndrome 1, Baraitser-Winter syndrome |
| RS587779773 |
ACTB
|
Health Risk |
Pathogenic |
Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1 |
| RS587779774 |
ACTB
|
Health Risk |
Pathogenic |
Baraitser-Winter syndrome 1, Baraitser-Winter syndrome |
| RS587779775 |
ACTB
|
Health Risk |
Pathogenic |
Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1 |
| RS587779776 |
ACTB
|
Health Risk |
Pathogenic |
Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1 |
| RS587779777 |
ACTB
|
Health Risk |
Likely pathogenic |
Baraitser-Winter syndrome 1, ACTB-related BAFopathy |
| RS587779778 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS587779779 |
PET100
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital lactic acidosis, Mitochondrial complex IV deficiency |
| RS587779780 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS587779783 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial multiple polyposis syndrome |
| RS587779786 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS587779789 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis |
| RS587779790 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS587779791 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS587779794 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial multiple polyposis syndrome, Hereditary cancer-predisposing syndrome |
| RS587779796 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS587779798 |
APC
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS587779799 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS587779800 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Ovarian cancer |
| RS587779801 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS587779803 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Classic or attenuated familial adenomatous polyposis, Hereditary cancer-predisposing syndrome |
| RS587779804 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS587779805 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS587779806 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis |
| RS587779811 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS587779812 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS587779813 |
ATM
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS587779815 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS587779816 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS587779817 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS587779818 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS587779820 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS587779822 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS587779823 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS587779824 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS587779825 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS587779826 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS587779828 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS587779829 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS587779833 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS587779834 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS587779836 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS587779838 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS587779841 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS587779842 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |