| RS869312068 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312069 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, 6 conditions |
| RS869312070 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312071 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312072 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312073 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312074 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312075 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312076 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312077 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312078 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS869312079 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312080 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312081 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312082 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312083 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312084 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312085 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS869312086 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312087 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312089 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312093 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS869312094 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312098 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS869312099 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, 6 conditions |
| RS869312100 |
TTN
|
Health Risk |
Pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312102 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312103 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312104 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312105 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312106 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312107 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312108 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312109 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312110 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312111 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312112 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312113 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312114 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312115 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312116 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Cardiomyopathy |
| RS869312117 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312118 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312119 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312120 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312121 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312122 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS869312124 |
BCKDHA
|
Health Risk |
Pathogenic |
Maple syrup urine disease, Maple syrup urine disease |
| RS869312125 |
BCKDHA
|
Health Risk |
Pathogenic |
Maple syrup urine disease, Maple syrup urine disease |
| RS869312126 |
BCKDHB
|
Health Risk |
Conflicting classifications of pathogenicity |
Maple syrup urine disease, Maple syrup urine disease type 1A |
| RS869312127 |
BCKDHB
|
Health Risk |
Pathogenic |
Maple syrup urine disease, Maple syrup urine disease |
| RS869312128 |
BCKDHB
|
Health Risk |
Pathogenic |
Maple syrup urine disease, Maple syrup urine disease type 1B |
| RS869312129 |
BCKDHB
|
Health Risk |
Pathogenic |
Maple syrup urine disease, Maple syrup urine disease type 1B |
| RS869312130 |
BCKDHB
|
Health Risk |
Pathogenic |
Maple syrup urine disease, Maple syrup urine disease |
| RS869312131 |
BCKDHB
|
Health Risk |
Pathogenic |
Maple syrup urine disease, Maple syrup urine disease |
| RS869312132 |
DBT
|
Health Risk |
Pathogenic |
Maple syrup urine disease, Maple syrup urine disease |
| RS869312134 |
GLA
|
Health Risk |
Pathogenic/Likely pathogenic |
Migalastat response, Fabry disease |
| RS869312135 |
GLA
|
Health Risk |
Pathogenic/Likely pathogenic |
Fabry disease, Migalastat response |
| RS869312136 |
GLA
|
Health Risk |
Likely pathogenic |
Fabry disease, Migalastat response |
| RS869312137 |
GLA
|
Health Risk |
Likely pathogenic |
Migalastat response, Fabry disease |
| RS869312138 |
GLA
|
Health Risk |
Pathogenic |
Migalastat response, Fabry disease |
| RS869312139 |
GLA
|
Health Risk |
Likely pathogenic |
Fabry disease, Migalastat response |
| RS869312140 |
GLA
|
Health Risk |
Pathogenic |
Migalastat response, Fabry disease |
| RS869312141 |
GLA
|
Health Risk |
Pathogenic |
Migalastat response, Fabry disease |
| RS869312142 |
GLA
|
Health Risk |
Pathogenic/Likely pathogenic |
Fabry disease, Migalastat response |
| RS869312145 |
GLA
|
Health Risk |
Conflicting classifications of pathogenicity |
Fabry disease, Migalastat response |
| RS869312146 |
GLA
|
Health Risk |
Pathogenic |
Fabry disease, Migalastat response |
| RS869312148 |
GLA
|
Health Risk |
Pathogenic/Likely pathogenic |
Fabry disease, Migalastat response |
| RS869312149 |
GLA
|
Health Risk |
Likely pathogenic |
Migalastat response, Fabry disease |
| RS869312150 |
GLA
|
Health Risk |
Likely pathogenic |
Migalastat response, Fabry disease |
| RS869312151 |
GLA
|
Health Risk |
Likely pathogenic |
Fabry disease, Migalastat response |
| RS869312154 |
GLA
|
Health Risk |
Pathogenic |
Migalastat response, Fabry disease |
| RS869312158 |
GLA
|
Health Risk |
Pathogenic |
Fabry disease, Migalastat response |
| RS869312160 |
GLA
|
Health Risk |
Likely pathogenic |
Fabry disease, Migalastat response |
| RS869312162 |
GLA;RPL36A-HNRNPH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Migalastat response, Fabry disease |
| RS869312163 |
GLA
|
Health Risk |
Conflicting classifications of pathogenicity |
Fabry disease, Migalastat response |
| RS869312167 |
MEN1
|
Health Risk |
Pathogenic |
Primary hyperparathyroidism, Multiple endocrine neoplasia |
| RS869312168 |
ACTG2
|
Health Risk |
Pathogenic |
Chronic intestinal pseudoobstruction, Chronic intestinal pseudoobstruction |
| RS869312169 |
DOCK8
|
Health Risk |
Pathogenic |
Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS869312175 |
CRX
|
Health Risk |
Likely pathogenic |
Leber congenital amaurosis, Leber congenital amaurosis |
| RS869312176 |
TRPM1
|
Health Risk |
Likely pathogenic |
Congenital stationary night blindness 1C, Congenital stationary night blindness 1C |
| RS869312177 |
PDE6B
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa 40, Retinitis pigmentosa |
| RS869312178 |
ADGRV1
|
Health Risk |
Likely pathogenic |
Usher syndrome type 2C, Usher syndrome type 2C |
| RS869312179 |
USH2A
|
Health Risk |
Pathogenic |
Usher syndrome type 2A, Retinitis pigmentosa 39 |
| RS869312180 |
USH2A
|
Health Risk |
Likely pathogenic |
Usher syndrome type 2A, Retinal dystrophy |
| RS869312181 |
MYO7A
|
Health Risk |
Likely pathogenic |
Usher syndrome type 1, Retinal dystrophy |
| RS869312183 |
TOPORS
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Retinitis pigmentosa 31 |
| RS869312184 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, ABCA4-related disorder |
| RS869312185 |
RPGR
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS869312186 |
USH2A
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS869312187 |
PRPF31
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinitis pigmentosa 11 |
| RS869312188 |
EYS
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinitis pigmentosa 25 |
| RS869312203 |
GLA
|
Health Risk |
Likely pathogenic |
Fabry disease, Fabry disease |
| RS869312204 |
GLA
|
Health Risk |
Pathogenic |
Fabry disease, Fabry disease |
| RS869312213 |
GLA
|
Health Risk |
Pathogenic |
Fabry disease, Fabry disease |
| RS869312214 |
GLA
|
Health Risk |
Pathogenic |
Fabry disease, Fabry disease |
| RS869312215 |
GLA
|
Health Risk |
Pathogenic |
Fabry disease, Fabry disease |
| RS869312216 |
GLA
|
Health Risk |
Pathogenic |
Fabry disease, Fabry disease |
| RS869312218 |
GLA
|
Health Risk |
Pathogenic |
Fabry disease, Fabry disease |
| RS869312219 |
GLA
|
Health Risk |
Pathogenic |
Fabry disease, Fabry disease |