| RS1975483671 |
ACSF3
|
Health Risk |
Likely pathogenic |
Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS1975494455 |
ACSF3
|
Health Risk |
Pathogenic/Likely pathogenic |
Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS1975502704 |
ACSF3
|
Health Risk |
Likely pathogenic |
Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS1975665345 |
GUCY2D
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975665578 |
GUCY2D
|
Health Risk |
Pathogenic |
Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS1975675766 |
GUCY2D
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975678842 |
GUCY2D
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975693728 |
GUCY2D
|
Health Risk |
Pathogenic |
Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS1975693830 |
GUCY2D
|
Health Risk |
Likely pathogenic |
Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975743813 |
GUCY2D
|
Health Risk |
Likely pathogenic |
Leber congenital amaurosis 1, Retinal disorder |
| RS1975751307 |
GUCY2D
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975768901 |
GUCY2D
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975778377 |
COL4A4
|
Health Risk |
Pathogenic |
Autosomal recessive Alport syndrome, Hematuria |
| RS1975868246 |
GUCY2D
|
Health Risk |
Likely pathogenic |
Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975868606 |
GUCY2D
|
Health Risk |
Likely pathogenic |
Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975868797 |
GUCY2D
|
Health Risk |
Likely pathogenic |
Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975890613 |
GUCY2D
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975893449 |
GUCY2D
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975909279 |
GUCY2D
|
Health Risk |
Likely pathogenic |
Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975911358 |
GUCY2D
|
Health Risk |
Likely pathogenic |
Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975911430 |
GUCY2D
|
Health Risk |
Pathogenic |
Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS1975923246 |
GUCY2D
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975925973 |
GUCY2D
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinal dystrophy, Cone-rod dystrophy 6 |
| RS1975931968 |
GUCY2D
|
Health Risk |
Likely pathogenic |
Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS1975935914 |
GUCY2D
|
Health Risk |
Conflicting classifications of pathogenicity |
Cone-rod dystrophy, Retinal dystrophy |
| RS1975936032 |
GUCY2D
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinal dystrophy, Cone-rod dystrophy 6 |
| RS1975936949 |
GUCY2D
|
Health Risk |
Pathogenic |
Night blindness, congenital stationary |
| RS1975937052 |
GUCY2D
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS1975943416 |
GUCY2D
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS1975943461 |
GUCY2D
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975943992 |
GUCY2D
|
Health Risk |
Likely pathogenic |
Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975945188 |
GUCY2D
|
Health Risk |
Conflicting classifications of pathogenicity |
Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS1975945845 |
GUCY2D
|
Health Risk |
Likely pathogenic |
Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975949139 |
GUCY2D
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS1975955933 |
GUCY2D
|
Health Risk |
Pathogenic |
Cone-rod dystrophy 6, Cone-rod dystrophy 6 |
| RS1975957350 |
GUCY2D
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS1975957618 |
GUCY2D
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS1975959442 |
GUCY2D
|
Health Risk |
Pathogenic |
Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS1975964112 |
GUCY2D
|
Health Risk |
Pathogenic |
Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS1975971228 |
GUCY2D
|
Health Risk |
Likely pathogenic |
Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975973086 |
GUCY2D
|
Health Risk |
Pathogenic |
Early-onset retinal dystrophy, Early-onset retinal dystrophy |
| RS1976145478 |
CRLF1
|
Health Risk |
Pathogenic |
Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1 |
| RS1976175724 |
CRLF1
|
Health Risk |
Pathogenic |
Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1 |
| RS1976237961 |
DNAH9
|
Health Risk |
Pathogenic |
— |
| RS1976320157 |
COL4A4
|
Health Risk |
Pathogenic |
Alport syndrome, Benign familial hematuria |
| RS1976337637 |
COL4A4
|
Health Risk |
Pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS1976341608 |
COL4A4
|
Health Risk |
Likely pathogenic |
— |
| RS1976356392 |
COL4A4
|
Health Risk |
Pathogenic |
— |
| RS1976367934 |
COL4A4
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, COL4A4-related disorder |
| RS1976595133 |
COL4A4
|
Health Risk |
Likely pathogenic |
Chronic kidney disease, Chronic kidney disease |
| RS1976595425 |
COL4A4
|
Health Risk |
Pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS1976602205 |
COL4A4
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS1976655209 |
SDHAF1
|
Health Risk |
Pathogenic |
Mitochondrial complex 2 deficiency, nuclear type 2 |
| RS1976753607 |
ACSF3
|
Health Risk |
Likely pathogenic |
Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS1976773862 |
ACSF3
|
Health Risk |
Pathogenic/Likely pathogenic |
Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS1976849780 |
ARHGEF18
|
Health Risk |
Pathogenic |
— |
| RS1976853079 |
SYNE4
|
Health Risk |
Pathogenic |
— |
| RS1976865905 |
SYNE4
|
Health Risk |
Likely pathogenic |
— |
| RS1977007859 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977008620 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977008747 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977008879 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977009175 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977009324 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977009717 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977010880 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977011690 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977016035 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977016836 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977016973 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977018125 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977018643 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977027551 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977027733 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977028665 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977028854 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977061578 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977062849 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977066082 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977079083 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977089420 |
SEMA6B
|
Health Risk |
Conflicting classifications of pathogenicity |
Epilepsy, progressive myoclonic |
| RS1977090006 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977091512 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977096738 |
SNORD118
|
Health Risk |
Pathogenic |
Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts |
| RS1977098048 |
SNORD118
|
Health Risk |
Pathogenic |
Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts |
| RS1977099347 |
ALOX12B
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 2, Lamellar ichthyosis |
| RS1977100621 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977101756 |
SEMA6B
|
Health Risk |
Likely pathogenic |
— |
| RS1977104461 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977105425 |
SEMA6B
|
Health Risk |
Pathogenic |
Epilepsy, progressive myoclonic |
| RS1977105578 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977106116 |
SEMA6B
|
Health Risk |
Pathogenic |
Epilepsy, progressive myoclonic |
| RS1977156997 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977157245 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977160529 |
ALOX12B
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977160664 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977161156 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977168456 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977169495 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977170208 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |