| RS2101020591 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101020760 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101020915 |
ABCA4
|
Health Risk |
Likely pathogenic |
— |
| RS2101022823 |
ABCA4
|
Health Risk |
Pathogenic |
Cone-rod dystrophy 3, Retinal dystrophy |
| RS2101022885 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101022969 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101023087 |
ABCA4
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS2101023129 |
ABCA4
|
Health Risk |
Pathogenic |
Retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS2101023641 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101024039 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS2101024858 |
AP4B1
|
Health Risk |
Likely pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2101024933 |
AP4B1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47 |
| RS2101025777 |
AP4B1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47 |
| RS2101025946 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101026073 |
COL11A1
|
Health Risk |
Likely pathogenic |
— |
| RS2101026231 |
DPYD
|
Health Risk |
Pathogenic |
Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2101027758 |
ABCA4
|
Health Risk |
Pathogenic |
Age related macular degeneration 2, Age related macular degeneration 2 |
| RS2101027768 |
ABCA4
|
Health Risk |
Likely pathogenic |
— |
| RS2101027818 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101027831 |
VANGL1
|
Health Risk |
Pathogenic |
Sacral defect with anterior meningocele, Sacral defect with anterior meningocele |
| RS2101033438 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101033441 |
ABCA4
|
Health Risk |
Likely pathogenic |
— |
| RS2101033562 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101033677 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101033821 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101034641 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101034896 |
ABCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Cone-rod dystrophy, Cone-rod dystrophy |
| RS2101034926 |
ABCA4
|
Health Risk |
Likely pathogenic |
— |
| RS2101035173 |
AP4B1
|
Health Risk |
Pathogenic/Likely pathogenic |
Spastic paraplegia, Hereditary spastic paraplegia 47 |
| RS2101035489 |
DPYD
|
Health Risk |
Likely pathogenic |
Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2101035684 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101035728 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Retinitis pigmentosa |
| RS2101035787 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101036750 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa |
| RS2101036893 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101037158 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101037211 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101037835 |
GLMN
|
Health Risk |
Pathogenic |
— |
| RS2101038943 |
COL11A1
|
Health Risk |
Pathogenic |
Marshall syndrome, Marshall syndrome |
| RS2101042002 |
ATP13A2
|
Health Risk |
Pathogenic |
Autosomal recessive spastic paraplegia type 78, Autosomal recessive spastic paraplegia type 78 |
| RS2101042802 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101042844 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101043601 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101043631 |
AP4B1
|
Health Risk |
Likely pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2101044148 |
RNPC3
|
Health Risk |
Pathogenic |
Isolated growth hormone deficiency, type 5 |
| RS2101044378 |
AP4B1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47 |
| RS2101044774 |
RNPC3
|
Health Risk |
Pathogenic |
Isolated growth hormone deficiency, type 5 |
| RS2101045488 |
RNPC3
|
Health Risk |
Pathogenic |
Decreased response to growth hormone stimulation test, Decreased response to growth hormone stimulation test |
| RS2101045655 |
ATP1A1
|
Health Risk |
Likely pathogenic |
Charcot-Marie-tooth disease, axonal |
| RS2101047010 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101047075 |
ABCA4
|
Health Risk |
Likely pathogenic |
Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS2101047091 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101048479 |
ABCA4
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 19, Retinitis pigmentosa 19 |
| RS2101048569 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
ABCA4-related disorder, ABCA4-related disorder |
| RS2101048742 |
ABCA4
|
Health Risk |
Likely pathogenic |
Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS2101050504 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101050573 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101050587 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101050605 |
ABCA4
|
Health Risk |
Pathogenic |
Stargardt disease, Retinal dystrophy |
| RS2101050974 |
RNPC3
|
Health Risk |
Pathogenic |
Isolated growth hormone deficiency, type 5 |
| RS2101051331 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101051468 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101051595 |
ABCA4
|
Health Risk |
Likely pathogenic |
— |
| RS2101051637 |
ABCA4
|
Health Risk |
Likely pathogenic |
— |
| RS2101052251 |
ATP1A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-tooth disease, axonal |
| RS2101053424 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101053527 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101053584 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101053587 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS2101053661 |
AGL
|
Health Risk |
Pathogenic |
Glycogen storage disease type III, Glycogen storage disease type III |
| RS2101053814 |
RNPC3
|
Health Risk |
Pathogenic |
Isolated growth hormone deficiency, type 5 |
| RS2101055022 |
ATP1A1
|
Health Risk |
Likely pathogenic |
Charcot-Marie-tooth disease, axonal |
| RS2101056946 |
CSDE1
|
Health Risk |
Pathogenic |
— |
| RS2101057076 |
ABCA4
|
Health Risk |
Pathogenic |
Stargardt disease, Stargardt disease |
| RS2101057095 |
ABCA4
|
Health Risk |
Likely pathogenic |
— |
| RS2101057149 |
ABCA4
|
Health Risk |
Pathogenic |
ABCA4-related retinopathy, ABCA4-related retinopathy |
| RS2101057370 |
ABCA4
|
Health Risk |
Pathogenic |
Stargardt disease, Stargardt disease |
| RS2101057505 |
ABCA4
|
Health Risk |
Likely pathogenic |
— |
| RS2101059717 |
ABCA4
|
Health Risk |
Pathogenic |
Stargardt disease, Stargardt disease |
| RS2101059901 |
ABCA4
|
Health Risk |
Likely pathogenic |
Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3 |
| RS2101066038 |
ATP1A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypomagnesemia, seizures |
| RS2101066445 |
ATP1A1
|
Health Risk |
Likely pathogenic |
— |
| RS2101066493 |
ATP1A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2101066494 |
COL11A1
|
Health Risk |
Pathogenic |
Thyroid cancer, nonmedullary |
| RS2101066868 |
COL11A1
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS2101067575 |
ABCA4
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 19, Retinitis pigmentosa 19 |
| RS2101067647 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101067700 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Stargardt disease, Stargardt disease |
| RS2101067779 |
ABCA4
|
Health Risk |
Likely pathogenic |
— |
| RS2101068877 |
CASQ2
|
Health Risk |
Conflicting classifications of pathogenicity |
Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype |
| RS2101069632 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS2101069736 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Age related macular degeneration 2, Cone-rod dystrophy 3 |
| RS2101069758 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS2101069863 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS2101074452 |
COL11A1
|
Health Risk |
Likely pathogenic |
— |
| RS2101074856 |
COL11A1
|
Health Risk |
Likely pathogenic |
See cases, See cases |
| RS2101074868 |
COL11A1
|
Health Risk |
Pathogenic |
Stickler syndrome type 2, Stickler syndrome type 2 |
| RS2101075191 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS2101075259 |
ABCA4
|
Health Risk |
Likely pathogenic |
— |
| RS2101076246 |
ABCA4
|
Health Risk |
Pathogenic |
— |