| RS121918203 |
RPGRIP1L
|
Health Risk |
Pathogenic/Likely pathogenic |
Meckel syndrome, type 5 |
| RS121918204 |
RPGRIP1L
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 7, Meckel syndrome |
| RS121918206 |
DARS2
|
Health Risk |
Pathogenic |
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
| RS121918207 |
DARS2
|
Health Risk |
Pathogenic/Likely pathogenic |
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
| RS121918208 |
DARS2
|
Health Risk |
Pathogenic |
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, See cases |
| RS121918209 |
DARS2
|
Health Risk |
Pathogenic |
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
| RS121918210 |
DARS2
|
Health Risk |
Pathogenic/Likely pathogenic |
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
| RS121918214 |
FTO
|
Health Risk |
Likely pathogenic |
Lethal polymalformative syndrome, Boissel type |
| RS121918215 |
OBSL1
|
Health Risk |
Pathogenic |
3M syndrome 2, 3M syndrome 2 |
| RS121918216 |
OBSL1
|
Health Risk |
Pathogenic |
3M syndrome 2, 3M syndrome 2 |
| RS121918217 |
FA2H
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35 |
| RS121918219 |
VANGL1
|
Health Risk |
Likely pathogenic |
Neural tube defects, susceptibility to |
| RS121918220 |
VANGL1
|
Health Risk |
risk factor |
Neural tube defects, susceptibility to |
| RS121918221 |
SEC23B
|
Health Risk |
Pathogenic |
Congenital dyserythropoietic anemia, type II |
| RS121918222 |
SEC23B
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital dyserythropoietic anemia, type II |
| RS121918223 |
SEC23B
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital dyserythropoietic anemia, type II |
| RS121918224 |
SEC23B
|
Health Risk |
Pathogenic |
Congenital dyserythropoietic anemia, type II |
| RS121918225 |
SEC23B
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital dyserythropoietic anemia, type II |
| RS121918226 |
SEC23B
|
Health Risk |
Pathogenic |
Congenital dyserythropoietic anemia, type II |
| RS121918227 |
ATP13A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78 |
| RS121918228 |
CUL7
|
Health Risk |
Pathogenic |
3M syndrome 1, 3-M syndrome |
| RS121918229 |
CUL7
|
Health Risk |
Pathogenic/Likely pathogenic |
3M syndrome 1, 3-M syndrome |
| RS121918230 |
COQ2
|
Health Risk |
Likely pathogenic |
Coenzyme Q10 deficiency, primary |
| RS121918231 |
COQ2
|
Health Risk |
Pathogenic/Likely pathogenic |
Coenzyme Q10 deficiency, primary |
| RS121918232 |
COQ2
|
Health Risk |
Conflicting classifications of pathogenicity |
Coenzyme Q10 deficiency, primary |
| RS121918233 |
COQ2
|
Health Risk |
Pathogenic |
Coenzyme Q10 deficiency, primary |
| RS121918234 |
SLC34A3
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease |
| RS121918235 |
SLC34A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease |
| RS121918236 |
SLC34A3
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease |
| RS121918237 |
SLC34A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease |
| RS121918238 |
SLC34A3
|
Health Risk |
Pathogenic |
Autosomal recessive hypophosphatemic bone disease, SLC34A3-related disorder |
| RS121918239 |
SLC34A3
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive hypophosphatemic bone disease, SLC34A3-related disorder |
| RS121918240 |
MMACHC
|
Health Risk |
Pathogenic/Likely pathogenic |
Cobalamin C disease, Disorders of Intracellular Cobalamin Metabolism |
| RS121918241 |
MMACHC
|
Health Risk |
Pathogenic |
Cobalamin C disease, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS121918242 |
MMACHC
|
Health Risk |
Pathogenic |
Cobalamin C disease, Disorders of Intracellular Cobalamin Metabolism |
| RS121918243 |
MMACHC
|
Health Risk |
Likely pathogenic |
Cobalamin C disease, Inborn genetic diseases |
| RS121918244 |
IQCB1
|
Health Risk |
Pathogenic |
Senior-Loken syndrome 5, Nephronophthisis |
| RS121918245 |
IQCB1
|
Health Risk |
Pathogenic |
Senior-Loken syndrome 5, Senior-Loken syndrome 5 |
| RS121918248 |
MMUT
|
Health Risk |
Pathogenic |
METHYLMALONIC ACIDURIA, mut(0) TYPE |
| RS121918249 |
MMUT
|
Health Risk |
Pathogenic |
METHYLMALONIC ACIDURIA, mut(0) TYPE |
| RS121918250 |
MMUT
|
Health Risk |
Likely pathogenic |
METHYLMALONIC ACIDURIA, mut(0) TYPE |
| RS121918251 |
MMUT
|
Health Risk |
Pathogenic |
METHYLMALONIC ACIDURIA, mut(0) TYPE |
| RS121918252 |
MMUT
|
Health Risk |
Likely pathogenic |
METHYLMALONIC ACIDURIA, mut(-) TYPE |
| RS121918253 |
MMUT
|
Health Risk |
Pathogenic |
METHYLMALONIC ACIDURIA, mut(-) TYPE |
| RS121918254 |
MMUT
|
Health Risk |
Pathogenic |
METHYLMALONIC ACIDURIA, mut(0) TYPE |
| RS121918255 |
MMUT
|
Health Risk |
Pathogenic |
METHYLMALONIC ACIDURIA, mut(0) TYPE |
| RS121918256 |
MMUT
|
Health Risk |
Pathogenic |
METHYLMALONIC ACIDURIA, mut(0) TYPE |
| RS121918257 |
MMUT
|
Health Risk |
Likely pathogenic |
METHYLMALONIC ACIDURIA, mut(0) TYPE |
| RS121918258 |
MMUT
|
Health Risk |
Pathogenic/Likely pathogenic |
METHYLMALONIC ACIDURIA, mut(0) TYPE |
| RS121918259 |
PNPLA2
|
Health Risk |
Pathogenic |
Neutral lipid storage myopathy, Neutral lipid storage myopathy |
| RS121918260 |
PNPLA2
|
Health Risk |
Pathogenic |
Neutral lipid storage myopathy, Neutral lipid storage myopathy |
| RS121918261 |
POU6F2
|
Health Risk |
Pathogenic |
Wilms tumor 5, Wilms tumor 5 |
| RS121918262 |
REEP1
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 31, Spastic paraplegia |
| RS121918263 |
REEP1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia |
| RS121918264 |
NIPBL
|
Health Risk |
Pathogenic/Likely pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS121918265 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS121918266 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS121918267 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS121918268 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS121918269 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS121918270 |
ROBO3
|
Health Risk |
Likely pathogenic |
Gaze palsy, familial horizontal |
| RS121918271 |
ROBO3
|
Health Risk |
Likely pathogenic |
Gaze palsy, familial horizontal |
| RS121918272 |
ROBO3
|
Health Risk |
Likely pathogenic |
Gaze palsy, familial horizontal |
| RS121918273 |
ROBO3
|
Health Risk |
Pathogenic |
Gaze palsy, familial horizontal |
| RS121918274 |
ROBO3
|
Health Risk |
Likely pathogenic |
Gaze palsy, familial horizontal |
| RS121918275 |
ROBO3
|
Health Risk |
Likely pathogenic |
Gaze palsy, familial horizontal |
| RS121918276 |
ROBO3
|
Health Risk |
Likely pathogenic |
Gaze palsy, familial horizontal |
| RS121918277 |
ROBO3
|
Health Risk |
Likely pathogenic |
Gaze palsy, familial horizontal |
| RS121918278 |
ROBO3
|
Health Risk |
Pathogenic |
Gaze palsy, familial horizontal |
| RS121918279 |
EXT2
|
Health Risk |
Pathogenic |
Exostoses, multiple |
| RS121918280 |
EXT2
|
Health Risk |
Pathogenic |
Exostoses, multiple |
| RS121918281 |
EXT2
|
Health Risk |
Pathogenic |
Exostoses, multiple |
| RS121918282 |
SCN3B
|
Health Risk |
Conflicting classifications of pathogenicity |
Brugada syndrome 7, Brugada syndrome |
| RS121918283 |
BEST1
|
Health Risk |
Pathogenic/Likely pathogenic |
Vitelliform macular dystrophy 2, Retinal dystrophy |
| RS121918284 |
BEST1
|
Health Risk |
Pathogenic/Likely pathogenic |
Vitelliform macular dystrophy 2, Autosomal recessive bestrophinopathy |
| RS121918285 |
BEST1
|
Health Risk |
Pathogenic |
Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2 |
| RS121918286 |
BEST1
|
Health Risk |
Pathogenic |
Autosomal recessive bestrophinopathy, Retinitis pigmentosa 50 |
| RS121918287 |
BEST1
|
Health Risk |
Pathogenic |
Autosomal recessive bestrophinopathy, Autosomal recessive bestrophinopathy |
| RS121918288 |
BEST1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive bestrophinopathy, Retinal dystrophy |
| RS121918289 |
BEST1
|
Health Risk |
Pathogenic |
Autosomal dominant vitreoretinochoroidopathy, Retinal dystrophy |
| RS121918290 |
BEST1
|
Health Risk |
Likely pathogenic |
Microcornea, rod-cone dystrophy |
| RS121918292 |
FERMT1
|
Health Risk |
Pathogenic |
Kindler syndrome, Kindler syndrome |
| RS121918293 |
FERMT1
|
Health Risk |
Pathogenic |
Kindler syndrome, FERMT1-related disorder |
| RS121918294 |
FERMT1
|
Health Risk |
Pathogenic |
Kindler syndrome, Kindler syndrome |
| RS121918295 |
FERMT3
|
Health Risk |
Pathogenic |
Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3 |
| RS121918296 |
FERMT3
|
Health Risk |
Pathogenic |
Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency |
| RS121918297 |
FERMT3
|
Health Risk |
Pathogenic/Likely pathogenic |
Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3 |
| RS121918298 |
FERMT3
|
Health Risk |
Pathogenic |
Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3 |
| RS121918299 |
TJP2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholanemia, familial 1 |
| RS121918301 |
EHMT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS121918302 |
RIMS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Cone-rod dystrophy 7, Retinal dystrophy |
| RS121918303 |
RXFP2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cryptorchidism, Cryptorchidism |
| RS121918304 |
FBXO7
|
Health Risk |
Pathogenic |
Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS121918305 |
FBXO7
|
Health Risk |
Pathogenic/Likely pathogenic |
Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS121918306 |
SPTBN2
|
Health Risk |
Pathogenic |
Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5 |
| RS121918307 |
RRM2B
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 8a, RRM2B-related mitochondrial disease |
| RS121918308 |
RRM2B
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 8a, RRM2B-related mitochondrial disease |
| RS121918309 |
RRM2B
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 8a, RRM2B-related mitochondrial disease |
| RS121918310 |
RRM2B
|
Health Risk |
Pathogenic |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 |
| RS121918311 |
RRM2B
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial DNA depletion syndrome 8a, RRM2B-related mitochondrial disease |