| RS121912774 |
COL17A1
|
Health Risk |
Pathogenic |
Epidermolysis bullosa, junctional 4 |
| RS121912775 |
CACNA1C
|
Health Risk |
Conflicting classifications of pathogenicity |
Brugada syndrome 3, Brugada syndrome |
| RS121912776 |
CACNA1C
|
Health Risk |
Pathogenic |
Brugada syndrome 3, Brugada syndrome |
| RS121912777 |
CES1
|
Health Risk |
Pathogenic |
DRUG METABOLISM, ALTERED |
| RS121912778 |
TYRP1
|
Health Risk |
Pathogenic |
Oculocutaneous albinism type 3, MELANESIAN BLOND HAIR |
| RS121912789 |
CTSD
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis 10 |
| RS121912790 |
CTSD
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis 10 |
| RS121912791 |
CEBPA
|
Health Risk |
Pathogenic |
Acute myeloid leukemia, Acute myeloid leukemia |
| RS121912792 |
CHN1
|
Health Risk |
Pathogenic |
Duane retraction syndrome 2, Duane retraction syndrome 2 |
| RS121912793 |
CHN1
|
Health Risk |
Pathogenic |
Duane retraction syndrome 2, Duane retraction syndrome 2 |
| RS121912794 |
CHN1
|
Health Risk |
Pathogenic |
Duane retraction syndrome 2, Duane retraction syndrome 2 |
| RS121912795 |
CHN1
|
Health Risk |
Pathogenic |
Duane retraction syndrome 2, Duane retraction syndrome 2 |
| RS121912796 |
CHN1
|
Health Risk |
Pathogenic |
Duane retraction syndrome 2, Duane retraction syndrome 2 |
| RS121912797 |
CHN1
|
Health Risk |
Pathogenic |
Duane retraction syndrome 2, Duane retraction syndrome 2 |
| RS121912798 |
CHN1
|
Health Risk |
Pathogenic |
Duane retraction syndrome 2, Duane retraction syndrome 2 |
| RS121912799 |
CLCN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital myotonia, autosomal recessive form |
| RS121912801 |
CLCN1
|
Health Risk |
Pathogenic |
Congenital myotonia, autosomal recessive form |
| RS121912805 |
CLCN1
|
Health Risk |
Likely pathogenic |
Congenital myotonia, autosomal recessive form |
| RS121912807 |
CLCN1
|
Health Risk |
Pathogenic |
Congenital myotonia, autosomal recessive form |
| RS121912811 |
CYP11A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital adrenal insufficiency with 46, XY sex reversal OR 46 |
| RS121912812 |
CYP11A1
|
Health Risk |
Likely pathogenic |
Congenital adrenal insufficiency with 46, XY sex reversal OR 46 |
| RS121912813 |
CYP11A1
|
Health Risk |
Pathogenic |
Congenital adrenal insufficiency with 46, XY sex reversal OR 46 |
| RS121912814 |
CYP11A1
|
Health Risk |
Pathogenic |
Congenital adrenal insufficiency with 46, XY sex reversal OR 46 |
| RS121912815 |
CHAT
|
Health Risk |
Pathogenic |
Familial infantile myasthenia, Familial infantile myasthenia |
| RS121912816 |
CHAT
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial infantile myasthenia, Congenital myasthenic syndrome |
| RS121912817 |
CHAT
|
Health Risk |
Likely pathogenic |
Familial infantile myasthenia, Familial infantile myasthenia |
| RS121912818 |
CHAT
|
Health Risk |
Likely pathogenic |
Familial infantile myasthenia, Familial infantile myasthenia |
| RS121912819 |
CHAT
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial infantile myasthenia, Congenital myasthenic syndrome |
| RS121912821 |
CHAT
|
Health Risk |
Likely pathogenic |
Familial infantile myasthenia, Congenital myasthenic syndrome |
| RS121912822 |
CHAT
|
Health Risk |
Likely pathogenic |
Familial infantile myasthenia, Congenital myasthenic syndrome |
| RS121912823 |
CHAT
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial infantile myasthenia, Abnormality of the musculature |
| RS121912824 |
COL4A3
|
Health Risk |
Pathogenic |
Autosomal recessive Alport syndrome, Alport syndrome |
| RS121912825 |
COL4A3
|
Health Risk |
Pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS121912826 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Benign familial hematuria, Autosomal dominant Alport syndrome |
| RS121912827 |
COL4A3
|
Health Risk |
Conflicting classifications of pathogenicity |
Benign familial hematuria, Autosomal recessive Alport syndrome |
| RS121912828 |
COL7A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Recessive dystrophic epidermolysis bullosa, 7 conditions |
| RS121912829 |
COL7A1
|
Health Risk |
Pathogenic |
Generalized dominant dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa |
| RS121912830 |
COL7A1
|
Health Risk |
Pathogenic |
Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa |
| RS121912831 |
COL7A1
|
Health Risk |
Pathogenic |
Pretibial dystrophic epidermolysis bullosa, Pretibial dystrophic epidermolysis bullosa |
| RS121912832 |
COL7A1
|
Health Risk |
Pathogenic |
Dominant dystrophic epidermolysis bullosa with absence of skin, Inborn genetic diseases |
| RS121912833 |
COL7A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Epidermolysis bullosa dystrophica, autosomal recessive |
| RS121912834 |
COL7A1
|
Health Risk |
Pathogenic |
Nonsyndromic congenital nail disorder 8, Transient bullous dermolysis of the newborn |
| RS121912835 |
COL7A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Transient bullous dermolysis of the newborn, Epidermolysis bullosa dystrophica |
| RS121912836 |
COL7A1
|
Health Risk |
Pathogenic |
Generalized dominant dystrophic epidermolysis bullosa, Pretibial dystrophic epidermolysis bullosa |
| RS121912837 |
COL7A1
|
Health Risk |
Pathogenic |
Epidermolysis bullosa pruriginosa, autosomal dominant |
| RS121912838 |
COL7A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Recessive dystrophic epidermolysis bullosa, 7 conditions |
| RS121912839 |
COL7A1
|
Health Risk |
Pathogenic |
Recessive dystrophic epidermolysis bullosa, Nonsyndromic congenital nail disorder 8 |
| RS121912840 |
COL7A1
|
Health Risk |
Pathogenic |
Nonsyndromic congenital nail disorder 8, Recessive dystrophic epidermolysis bullosa |
| RS121912841 |
COL7A1
|
Health Risk |
Pathogenic |
Dominant dystrophic epidermolysis bullosa with absence of skin, Recessive dystrophic epidermolysis bullosa |
| RS121912842 |
COL7A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Generalized dominant dystrophic epidermolysis bullosa, COL7A1-related disorder |
| RS121912843 |
COL7A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Generalized dominant dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa |
| RS121912844 |
COL7A1
|
Health Risk |
Pathogenic |
Generalized dominant dystrophic epidermolysis bullosa, Epidermolysis bullosa dystrophica |
| RS121912845 |
COL7A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Epidermolysis bullosa, pretibial |
| RS121912846 |
COL7A1
|
Health Risk |
Pathogenic |
Generalized dominant dystrophic epidermolysis bullosa, Epidermolysis bullosa pruriginosa |
| RS121912847 |
COL7A1
|
Health Risk |
Pathogenic |
Epidermolysis bullosa pruriginosa, autosomal recessive |
| RS121912848 |
COL7A1
|
Health Risk |
Pathogenic |
Epidermolysis bullosa pruriginosa, autosomal dominant |
| RS121912849 |
COL7A1
|
Health Risk |
Likely pathogenic |
Recessive dystrophic epidermolysis bullosa, Epidermolysis bullosa dystrophica |
| RS121912850 |
COL7A1
|
Health Risk |
Pathogenic |
Generalized dominant dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa |
| RS121912851 |
COL7A1
|
Health Risk |
Pathogenic |
Recessive dystrophic epidermolysis bullosa, Epidermolysis bullosa dystrophica |
| RS121912852 |
COL7A1
|
Health Risk |
Pathogenic |
Recessive dystrophic epidermolysis bullosa, Epidermolysis bullosa dystrophica |
| RS121912853 |
COL7A1
|
Health Risk |
Likely pathogenic |
Recessive dystrophic epidermolysis bullosa, Epidermolysis bullosa dystrophica |
| RS121912854 |
COL7A1
|
Health Risk |
Pathogenic |
Epidermolysis bullosa dystrophica inversa, autosomal recessive |
| RS121912855 |
COL7A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Epidermolysis bullosa dystrophica inversa, autosomal recessive |
| RS121912856 |
COL7A1
|
Health Risk |
Pathogenic |
Epidermolysis bullosa dystrophica, autosomal recessive |
| RS121912857 |
COL4A1
|
Health Risk |
Pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS121912858 |
COL4A4
|
Health Risk |
Pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS121912859 |
COL4A4
|
Health Risk |
Pathogenic |
Autosomal recessive Alport syndrome, Benign familial hematuria |
| RS121912860 |
COL4A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Benign familial hematuria, Autosomal recessive Alport syndrome |
| RS121912861 |
COL4A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome |
| RS121912862 |
COL4A4
|
Health Risk |
Pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS121912863 |
COL4A4
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive Alport syndrome, Alport syndrome |
| RS121912864 |
COL2A1
|
Health Risk |
Pathogenic |
Hypochondrogenesis, Hypochondrogenesis |
| RS121912865 |
COL2A1
|
Health Risk |
Pathogenic |
Namaqualand hip dysplasia, Namaqualand hip dysplasia |
| RS121912866 |
COL2A1
|
Health Risk |
Pathogenic |
Stickler syndrome type 1, Stickler syndrome |
| RS121912867 |
COL2A1
|
Health Risk |
Pathogenic |
Hypochondrogenesis, Hypochondrogenesis |
| RS121912868 |
COL2A1
|
Health Risk |
Likely pathogenic |
Hypochondrogenesis, Achondrogenesis type II |
| RS121912869 |
COL2A1
|
Health Risk |
Pathogenic |
Stickler syndrome type 1, Stickler syndrome type 1 |
| RS121912870 |
COL2A1
|
Health Risk |
Pathogenic |
Spondyloepiphyseal dysplasia congenita, Spondyloepimetaphyseal dysplasia |
| RS121912871 |
COL2A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Spondyloepimetaphyseal dysplasia, Strudwick type |
| RS121912872 |
COL2A1
|
Health Risk |
Pathogenic |
Stickler syndrome, type I |
| RS121912873 |
COL2A1
|
Health Risk |
Pathogenic |
Stickler syndrome type 1, Stickler syndrome type 1 |
| RS121912874 |
COL2A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Spondyloepiphyseal dysplasia congenita, 14 conditions |
| RS121912875 |
COL2A1
|
Health Risk |
Likely pathogenic |
Spondyloepimetaphyseal dysplasia, Strudwick type |
| RS121912876 |
COL2A1
|
Health Risk |
Pathogenic |
Spondyloepiphyseal dysplasia with metatarsal shortening, Stickler syndrome type 1 |
| RS121912877 |
COL2A1
|
Health Risk |
Likely pathogenic |
Kniest dysplasia, Stickler syndrome |
| RS121912878 |
COL2A1
|
Health Risk |
Pathogenic |
Achondrogenesis type II, Achondrogenesis type II |
| RS121912879 |
COL2A1
|
Health Risk |
Pathogenic |
Achondrogenesis type II, Spondyloepiphyseal dysplasia congenita |
| RS121912880 |
COL2A1
|
Health Risk |
Pathogenic |
Stickler syndrome type 1, Spondyloepimetaphyseal dysplasia |
| RS121912881 |
COL2A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Spondyloepimetaphyseal dysplasia, Strudwick type |
| RS121912882 |
COL2A1
|
Health Risk |
Pathogenic |
Multiple epiphyseal dysplasia, Beighton type |
| RS121912883 |
COL2A1
|
Health Risk |
Pathogenic |
Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia congenita |
| RS121912884 |
COL2A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Stickler syndrome type 1, Achondrogenesis type II |
| RS121912885 |
COL2A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Stickler syndrome, type I |
| RS121912886 |
COL2A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Spondyloepiphyseal dysplasia congenita, Spondyloperipheral dysplasia |
| RS121912887 |
COL2A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Connective tissue disorder |
| RS121912888 |
COL2A1
|
Health Risk |
Pathogenic |
Achondrogenesis type II, Achondrogenesis type II |
| RS121912889 |
COL2A1
|
Health Risk |
Likely pathogenic |
Platyspondylic dysplasia, Torrance type |
| RS121912890 |
COL2A1
|
Health Risk |
Pathogenic |
Spondyloperipheral dysplasia, Spondyloperipheral dysplasia |
| RS121912891 |
COL2A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Legg-Calve-Perthes disease, Avascular necrosis of femoral head |
| RS121912893 |
COL2A1
|
Health Risk |
Pathogenic |
Stickler syndrome type 1, Autosomal dominant rhegmatogenous retinal detachment |