| RS1555384171 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS1555384300 |
BCL11B
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with speech delay, dysmorphic facies |
| RS1555384301 |
BCL11B
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555384318 |
GALC
|
Health Risk |
Pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1555384335 |
GALC
|
Health Risk |
Likely pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1555384342 |
GALC
|
Health Risk |
Likely pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1555384360 |
GALC
|
Health Risk |
Likely pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1555384380 |
GALC
|
Health Risk |
Pathogenic/Likely pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1555384381 |
GALC
|
Health Risk |
Pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1555384382 |
GALC
|
Health Risk |
Likely pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1555385717 |
PATL2
|
Health Risk |
Pathogenic |
Oocyte maturation defect 4, Oocyte maturation defect 4 |
| RS1555386022 |
TRIP11
|
Health Risk |
Pathogenic |
Odontochondrodysplasia 1, Odontochondrodysplasia 1 |
| RS1555386649 |
SPRED1
|
Health Risk |
Likely pathogenic |
Legius syndrome, Legius syndrome |
| RS1555386651 |
SPRED1
|
Health Risk |
Pathogenic |
Legius syndrome, Legius syndrome |
| RS1555386654 |
SPRED1
|
Health Risk |
Likely pathogenic |
Legius syndrome, Legius syndrome |
| RS1555387462 |
VSX2
|
Health Risk |
Likely pathogenic |
— |
| RS1555388034 |
FUT8
|
Health Risk |
Pathogenic |
Congenital disorder of glycosylation with defective fucosylation 1, Congenital disorder of glycosylation with defective fucosylation 1 |
| RS1555389690 |
SPRED1
|
Health Risk |
Pathogenic |
Legius syndrome, Legius syndrome |
| RS1555391042 |
SPRED1
|
Health Risk |
Conflicting classifications of pathogenicity |
Legius syndrome, Legius syndrome |
| RS1555391053 |
SPRED1
|
Health Risk |
Pathogenic |
Legius syndrome, Noonan syndrome and Noonan-related syndrome |
| RS1555391061 |
SPRED1
|
Health Risk |
Pathogenic |
Legius syndrome, Legius syndrome |
| RS1555391161 |
SPRED1
|
Health Risk |
Pathogenic |
Legius syndrome, Legius syndrome |
| RS1555391286 |
UBE3A
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Angelman syndrome |
| RS1555391997 |
OCA2
|
Health Risk |
Pathogenic |
Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism |
| RS1555392032 |
SPRED1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555392037 |
OCA2
|
Health Risk |
Pathogenic |
Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism |
| RS1555392502 |
TCF12
|
Health Risk |
Likely pathogenic |
— |
| RS1555392609 |
SPRED1
|
Health Risk |
Pathogenic/Likely pathogenic |
Legius syndrome, Legius syndrome |
| RS1555392750 |
SPRED1
|
Health Risk |
Likely pathogenic |
Legius syndrome, Legius syndrome |
| RS1555392759 |
SPRED1
|
Health Risk |
Pathogenic/Likely pathogenic |
Legius syndrome, Legius syndrome |
| RS1555392783 |
SPRED1
|
Health Risk |
Pathogenic |
Legius syndrome, Legius syndrome |
| RS1555392791 |
SPRED1
|
Health Risk |
Likely pathogenic |
Legius syndrome, Legius syndrome |
| RS1555393005 |
ZFYVE26
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15 |
| RS1555393027 |
DLL4
|
Health Risk |
Likely pathogenic |
Adams-Oliver syndrome 6, Adams-Oliver syndrome 6 |
| RS1555393125 |
DLL4
|
Health Risk |
Pathogenic |
Adams-Oliver syndrome 6, Adams-Oliver syndrome 6 |
| RS1555393172 |
DLL4
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555393181 |
ZFYVE26
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15 |
| RS1555393182 |
DLL4
|
Health Risk |
Pathogenic |
Adams-Oliver syndrome 6, Adams-Oliver syndrome 6 |
| RS1555393242 |
UBE3A
|
Health Risk |
Likely pathogenic |
Angelman syndrome, Angelman syndrome |
| RS1555393315 |
UBE3A
|
Health Risk |
Conflicting classifications of pathogenicity |
Angelman syndrome, Angelman syndrome |
| RS1555393338 |
ZFYVE26
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 15, Spastic paraplegia |
| RS1555393393 |
ZFYVE26
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 15, Spastic paraplegia |
| RS1555393508 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555393510 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555393513 |
FBN1
|
Health Risk |
Pathogenic |
— |
| RS1555393514 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555393516 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555393525 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555393532 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555393538 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555393539 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555393548 |
FBN1
|
Health Risk |
Likely pathogenic |
— |
| RS1555393551 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555393553 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1555393556 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555393565 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555393647 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555393652 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1555393653 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555393657 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555393823 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555393824 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555393825 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555393827 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555393831 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555393833 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555393837 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555393844 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555393847 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555393848 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555393856 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555393858 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1555393859 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555393862 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555393863 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555393865 |
FBN1
|
Health Risk |
Likely pathogenic |
— |
| RS1555393866 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555393871 |
FBN1
|
Health Risk |
Likely pathogenic |
8 conditions, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555393875 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1555393880 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1555393882 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555393886 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555393889 |
FBN1
|
Health Risk |
Likely pathogenic |
Striae distensae, Pulmonary artery dilatation |
| RS1555394135 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555394138 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555394142 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1555394144 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555394146 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1555394148 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555394149 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1555394151 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555394152 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555394153 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555394187 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555394189 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555394195 |
FBN1
|
Health Risk |
Pathogenic |
Congenital aneurysm of ascending aorta, Acute aortic dissection |
| RS1555394196 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1555394197 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555394206 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555394210 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |