| RS1378450928 |
MYH11
|
Health Risk |
Conflicting classifications of pathogenicity |
Aortic aneurysm, familial thoracic 4 |
| RS1378470761 |
PDZD7
|
Health Risk |
Pathogenic/Likely pathogenic |
PDZD7-related disorder, PDZD7-related disorder |
| RS1378484093 |
AFG3L2
|
Health Risk |
Likely pathogenic |
— |
| RS1378501017 |
ARSB
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1378520293 |
CERKL
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa, Retinitis pigmentosa 26 |
| RS137852207 |
FRMD7
|
Health Risk |
Pathogenic |
Nystagmus 1, congenital |
| RS137852208 |
FRMD7
|
Health Risk |
Pathogenic |
Nystagmus 1, congenital |
| RS137852209 |
FRMD7
|
Health Risk |
Pathogenic |
Nystagmus 1, congenital |
| RS137852210 |
FRMD7
|
Health Risk |
Pathogenic |
Nystagmus 1, congenital |
| RS137852211 |
FRMD7
|
Health Risk |
Pathogenic/Likely pathogenic |
Nystagmus 1, congenital |
| RS137852212 |
FRMD7
|
Health Risk |
Conflicting classifications of pathogenicity |
Nystagmus 1, congenital |
| RS137852213 |
AP1S2
|
Health Risk |
Pathogenic |
Pettigrew syndrome, Pettigrew syndrome |
| RS137852214 |
ZDHHC9
|
Health Risk |
Pathogenic/Likely pathogenic |
Syndromic X-linked intellectual disability Raymond type, Intellectual disability |
| RS137852215 |
ZDHHC9
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type |
| RS137852216 |
AMER1
|
Health Risk |
Pathogenic |
Osteopathia striata with cranial sclerosis, Neoplasm |
| RS137852217 |
AMER1
|
Health Risk |
Pathogenic |
Osteopathia striata with cranial sclerosis, Inborn genetic diseases |
| RS137852218 |
PORCN
|
Health Risk |
Pathogenic |
Focal dermal hypoplasia, Nonpapillary renal cell carcinoma |
| RS137852219 |
PORCN
|
Health Risk |
Pathogenic |
Focal dermal hypoplasia, Focal dermal hypoplasia |
| RS137852220 |
NDP
|
Health Risk |
Pathogenic |
Exudative vitreoretinopathy 2, X-linked |
| RS137852221 |
NDP
|
Health Risk |
Pathogenic |
Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS137852223 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852224 |
F9
|
Health Risk |
Likely pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852226 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852227 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Thrombophilia |
| RS137852228 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852229 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852230 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852231 |
F9
|
Health Risk |
Likely pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852232 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Thrombophilia |
| RS137852233 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Thrombophilia |
| RS137852234 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852235 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852236 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852237 |
F9
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary factor IX deficiency disease, Thrombophilia |
| RS137852238 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852239 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852240 |
F9
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary factor IX deficiency disease, Thrombophilia |
| RS137852241 |
F9
|
Health Risk |
Pathogenic |
Hemophilia b(m), Hereditary factor IX deficiency disease |
| RS137852243 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hemophilia b(m) |
| RS137852244 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852245 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852247 |
F9
|
Health Risk |
Likely pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852248 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Thrombophilia |
| RS137852249 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Thrombophilia |
| RS137852250 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Thrombophilia |
| RS137852251 |
F9
|
Health Risk |
Likely pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852252 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852253 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852254 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Thrombophilia |
| RS137852255 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Thrombophilia |
| RS137852256 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852257 |
F9
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852258 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Thrombophilia |
| RS137852259 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852260 |
F9
|
Health Risk |
Likely pathogenic |
Hereditary factor IX deficiency disease, Thrombophilia |
| RS137852261 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Thrombophilia |
| RS137852262 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852263 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852265 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852266 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852267 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852268 |
F9
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary factor IX deficiency disease, Thrombophilia |
| RS137852269 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852270 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852271 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852272 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Thrombophilia |
| RS137852273 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Thrombophilia |
| RS137852274 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852275 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852276 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852277 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Thrombophilia |
| RS137852278 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852279 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852280 |
F9
|
Health Risk |
Likely pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852281 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS137852283 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Thrombophilia |
| RS137852284 |
RP2
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 2, Retinitis pigmentosa |
| RS137852285 |
PHKA2
|
Health Risk |
Pathogenic |
Glycogen storage disease IXa1, Glycogen storage disease IXa1 |
| RS137852286 |
PHKA2
|
Health Risk |
Pathogenic |
Glycogen storage disease IXa1, Glycogen storage disease IXa1 |
| RS137852287 |
PHKA2
|
Health Risk |
Pathogenic |
Glycogen storage disease IXa1, Glycogen storage disease IXa1 |
| RS137852288 |
PHKA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Glycogen storage disease IXa1, Glycogen storage disease |
| RS137852289 |
PHKA2
|
Health Risk |
Pathogenic |
Glycogen storage disease IXa1, Nonpapillary renal cell carcinoma |
| RS137852290 |
PHKA2
|
Health Risk |
Likely pathogenic |
Glycogen storage disease IXa2, Glycogen storage disease IXa1 |
| RS137852291 |
PHKA2
|
Health Risk |
Pathogenic |
Glycogen storage disease IXa2, Glycogen storage disease IXa1 |
| RS137852292 |
PHKA2
|
Health Risk |
Pathogenic |
Glycogen storage disease IXa2, Glycogen storage disease IXa1 |
| RS137852293 |
PHKA2
|
Health Risk |
Pathogenic |
Glycogen storage disease IXa2, Glycogen storage disease IXa1 |
| RS137852294 |
PHKA2
|
Health Risk |
Likely pathogenic |
Glycogen storage disease IXa2, Glycogen storage disease IXa1 |
| RS137852295 |
PHKA2
|
Health Risk |
Likely pathogenic |
Glycogen storage disease IXa2, Glycogen storage disease IXa1 |
| RS137852296 |
GPR143
|
Health Risk |
Pathogenic |
Ocular albinism, type I |
| RS137852297 |
GPR143
|
Health Risk |
Conflicting classifications of pathogenicity |
Ocular albinism, type I |
| RS137852298 |
GPR143
|
Health Risk |
Pathogenic |
Nystagmus 6, congenital |
| RS137852299 |
ALAS2
|
Health Risk |
Pathogenic |
X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |
| RS137852300 |
ALAS2
|
Health Risk |
Pathogenic |
X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |
| RS137852301 |
ALAS2
|
Health Risk |
Pathogenic |
X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |
| RS137852302 |
ALAS2
|
Health Risk |
Pathogenic |
X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |
| RS137852303 |
ALAS2
|
Health Risk |
Pathogenic |
Sideroblastic anemia 1, late-onset |
| RS137852304 |
ALAS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Sideroblastic anemia 1, late-onset |
| RS137852305 |
ALAS2
|
Health Risk |
Pathogenic |
X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |
| RS137852306 |
ALAS2
|
Health Risk |
Pathogenic |
X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |
| RS137852307 |
ALAS2
|
Health Risk |
Pathogenic |
X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |