| RS62642580 |
ABCA4
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS62642582 |
RPE65
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS62642583 |
RPE65
|
Health Risk |
Pathogenic |
Leber congenital amaurosis, Retinitis pigmentosa 20 |
| RS62642584 |
RPE65
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 20, Leber congenital amaurosis 2 |
| RS62642859 |
PEX12
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B |
| RS62642906 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62642907 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62642908 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62642910 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62642912 |
PAH
|
Health Risk |
Conflicting classifications of pathogenicity |
Phenylketonuria, Phenylketonuria |
| RS62642913 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62642914 |
PAH
|
Health Risk |
Likely pathogenic |
See cases, Phenylketonuria |
| RS62642915 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62642916 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62642917 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62642920 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62642921 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62642926 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, PAH-related disorder |
| RS62642928 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62642929 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, PAH-related disorder |
| RS62642930 |
PAH
|
Health Risk |
Pathogenic/Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62642932 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62642933 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, PAH-related disorder |
| RS62642934 |
PAH
|
Health Risk |
Pathogenic |
Hyperphenylalaninemia, Phenylketonuria |
| RS62642935 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, PAH-related disorder |
| RS62642936 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62642937 |
PAH
|
Health Risk |
Pathogenic |
Hyperphenylalaninemia, Phenylketonuria |
| RS62642939 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Hyperphenylalaninemia |
| RS62642940 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62642941 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62642942 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62642944 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62642945 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62643608 |
CDKL5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS62643614 |
CDKL5
|
Health Risk |
Pathogenic |
Atypical Rett syndrome, Angelman syndrome-like |
| RS62643619 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS62643623 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS62643624 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS62643625 |
VWF
|
Health Risk |
Pathogenic |
Hereditary von Willebrand disease, Hereditary von Willebrand disease |
| RS62643628 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS62643630 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 2N, von Willebrand disease type 2N |
| RS62643632 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 3, Hereditary von Willebrand disease |
| RS62643634 |
VWF
|
Health Risk |
Likely pathogenic |
Abnormality of coagulation, Abnormality of coagulation |
| RS62643640 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS62644465 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62644467 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62644469 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62644471 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62644473 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62644475 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62644477 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62644499 |
PAH
|
Health Risk |
Pathogenic |
Hyperphenylalaninemia, Phenylketonuria |
| RS62644501 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62644503 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62645741 |
GPR143
|
Health Risk |
Pathogenic |
Ocular albinism, type I |
| RS62645746 |
CRB1
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 8, Retinitis pigmentosa 12 |
| RS62645747 |
CRB1
|
Health Risk |
Likely pathogenic |
Leber congenital amaurosis, Leber congenital amaurosis 1 |
| RS62645748 |
CRB1
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 8, Retinitis pigmentosa 12 |
| RS62645749 |
CRB1
|
Health Risk |
Conflicting classifications of pathogenicity |
Pigmented paravenous retinochoroidal atrophy, Leber congenital amaurosis 8 |
| RS62645750 |
CRB1
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa 12, Leber congenital amaurosis 8 |
| RS62645752 |
CRB1
|
Health Risk |
Pathogenic |
Retinitis pigmentosa, Leber congenital amaurosis |
| RS62645754 |
CRB1
|
Health Risk |
Pathogenic/Likely pathogenic |
Leber congenital amaurosis, Leber congenital amaurosis 8 |
| RS62645755 |
CRB1
|
Health Risk |
Likely pathogenic |
Leber congenital amaurosis 8, Retinitis pigmentosa 12 |
| RS62645882 |
RS1
|
Health Risk |
Pathogenic |
Juvenile retinoschisis, Juvenile retinoschisis |
| RS62645885 |
RS1
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS62645886 |
RS1
|
Health Risk |
Pathogenic |
— |
| RS62645889 |
RS1
|
Health Risk |
Pathogenic |
Retinal dystrophy, Juvenile retinoschisis |
| RS62645892 |
RS1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS62645894 |
RS1
|
Health Risk |
Likely pathogenic |
Juvenile retinoschisis, Retinal dystrophy |
| RS62645895 |
RS1
|
Health Risk |
Pathogenic |
Juvenile retinoschisis, Juvenile retinoschisis |
| RS62645900 |
RS1
|
Health Risk |
Pathogenic |
— |
| RS62645902 |
TYR
|
Health Risk |
Pathogenic/Likely pathogenic |
Oculocutaneous albinism, Oculocutaneous albinism |
| RS62645904 |
TYR
|
Health Risk |
Pathogenic |
Oculocutaneous albinism type 1A, Nonsyndromic Oculocutaneous Albinism |
| RS62645908 |
TYR
|
Health Risk |
Conflicting classifications of pathogenicity |
Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3 |
| RS62645909 |
TYR
|
Health Risk |
Pathogenic |
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN |
| RS62645914 |
TYR
|
Health Risk |
Pathogenic/Likely pathogenic |
Oculocutaneous albinism, Oculocutaneous albinism type 1 |
| RS62645916 |
TYR
|
Health Risk |
Pathogenic/Likely pathogenic |
Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B |
| RS62645917 |
TYR
|
Health Risk |
Pathogenic |
Oculocutaneous albinism type 1A, Nonsyndromic Oculocutaneous Albinism |
| RS62645924 |
TYR
|
Health Risk |
Pathogenic |
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN |
| RS62645929 |
PRPH2
|
Health Risk |
Pathogenic |
Retinal dystrophy, PRPH2-related disorder |
| RS62645931 |
PRPH2
|
Health Risk |
Pathogenic/Likely pathogenic |
PRPH2-related disorder, Retinal dystrophy |
| RS62645932 |
PRPH2
|
Health Risk |
Likely pathogenic |
PRPH2-related disorder, PRPH2-related disorder |
| RS62645934 |
PRPH2
|
Health Risk |
Pathogenic |
— |
| RS62645935 |
PRPH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa 7, PRPH2-related disorder |
| RS62645936 |
PRPH2
|
Health Risk |
Conflicting classifications of pathogenicity |
PRPH2-related disorder, Retinal dystrophy |
| RS62645937 |
PRPH2
|
Health Risk |
Pathogenic |
— |
| RS62645938 |
PRPH2
|
Health Risk |
Pathogenic |
PRPH2-related disorder, PRPH2-related disorder |
| RS62645939 |
PRPH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinitis pigmentosa, PRPH2-related disorder |
| RS62645942 |
ABCA4
|
Health Risk |
Likely pathogenic |
Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2 |
| RS62645943 |
ABCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS62645944 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa 19 |
| RS62645946 |
ABCA4
|
Health Risk |
Pathogenic |
ABCA4-related disorder, Retinal dystrophy |
| RS62645948 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS62645949 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS62645950 |
ABCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinal dystrophy, Retinal dystrophy |
| RS62645952 |
ABCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Cone-rod dystrophy 3, Retinal dystrophy |
| RS62645957 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS62645958 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
ABCA4-related disorder, Retinal dystrophy |
| RS62646860 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Age related macular degeneration 2, Stargardt disease |
| RS62646861 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |