| RS387906222 |
TPRN
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 79, Autosomal recessive nonsyndromic hearing loss 79 |
| RS387906225 |
ALDOB
|
Health Risk |
Pathogenic |
Hereditary fructosuria, Inborn genetic diseases |
| RS387906226 |
ALDOB
|
Health Risk |
Pathogenic |
Hereditary fructosuria, Hereditary fructosuria |
| RS387906228 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS387906229 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS387906230 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS387906231 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS387906232 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS387906233 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS387906234 |
APC
|
Health Risk |
Pathogenic |
Gardner syndrome, Periampullary adenoma |
| RS387906236 |
APC
|
Health Risk |
Pathogenic |
Gardner syndrome, Hereditary cancer-predisposing syndrome |
| RS387906237 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS387906238 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS387906239 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial multiple polyposis syndrome |
| RS387906240 |
OCA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Tyrosinase-positive oculocutaneous albinism, Oculocutaneous albinism |
| RS387906241 |
OCA2
|
Health Risk |
Pathogenic |
Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism |
| RS387906242 |
ACAD9
|
Health Risk |
Conflicting classifications of pathogenicity |
Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS387906243 |
RPGRIP1L
|
Health Risk |
Pathogenic |
Joubert syndrome 7, Joubert syndrome 7 |
| RS387906244 |
AGL
|
Health Risk |
Pathogenic/Likely pathogenic |
Glycogen storage disease IIIa, Glycogen storage disease type III |
| RS387906246 |
AGL
|
Health Risk |
Pathogenic |
Glycogen storage disease IIIb, Glycogen storage disease IIIb |
| RS387906248 |
ACOX1
|
Health Risk |
Pathogenic |
Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency |
| RS387906249 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Inborn genetic diseases |
| RS387906251 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder |
| RS387906252 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS387906253 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS387906254 |
ALDH3A2
|
Health Risk |
Pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS387906255 |
ALDH3A2
|
Health Risk |
Pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS387906256 |
ALDH3A2
|
Health Risk |
Pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS387906257 |
ALDH3A2
|
Health Risk |
Pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS387906258 |
CYP27B1
|
Health Risk |
Pathogenic |
Vitamin D-dependent rickets, type 1A |
| RS387906259 |
CYP27B1
|
Health Risk |
Pathogenic |
Vitamin D-dependent rickets, type 1A |
| RS387906260 |
CYP27B1
|
Health Risk |
Pathogenic |
Vitamin D-dependent rickets, type 1A |
| RS387906261 |
MAN2B1
|
Health Risk |
Pathogenic/Likely pathogenic |
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS387906262 |
ERCC6
|
Health Risk |
Pathogenic |
Cockayne syndrome type 2, Cockayne syndrome type 2 |
| RS387906263 |
REEP1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia |
| RS387906264 |
REEP1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS387906265 |
ERMAP
|
Health Risk |
Pathogenic |
SCIANNA BLOOD GROUP SYSTEM, SC:-1 |
| RS387906266 |
ADAMTS10
|
Health Risk |
Likely pathogenic |
Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1 |
| RS387906267 |
ADA
|
Health Risk |
Likely pathogenic |
Severe combined immunodeficiency, autosomal recessive |
| RS387906270 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome 3, Joubert syndrome 3 |
| RS387906271 |
CHD7
|
Health Risk |
Pathogenic |
Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome |
| RS387906272 |
RDH12
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 13, Retinitis pigmentosa |
| RS387906273 |
ALG3
|
Health Risk |
Pathogenic/Likely pathogenic |
ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS387906274 |
CDK5RAP2
|
Health Risk |
Pathogenic |
Microcephaly 3, primary |
| RS387906275 |
SPG21
|
Health Risk |
Pathogenic |
Mast syndrome, Hereditary spastic paraplegia |
| RS387906277 |
ALG8
|
Health Risk |
Pathogenic |
ALG8 congenital disorder of glycosylation, ALG8 congenital disorder of glycosylation |
| RS387906281 |
ALG2
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation |
| RS387906282 |
ACAT1
|
Health Risk |
Likely pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS387906283 |
ACAT1
|
Health Risk |
Pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS387906284 |
ABCA12
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4A |
| RS387906285 |
ABCA12
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4B |
| RS387906286 |
MCFD2
|
Health Risk |
Likely pathogenic |
Factor 5 and Factor VIII, combined deficiency of |
| RS387906287 |
MCFD2
|
Health Risk |
Pathogenic |
Factor 5 and Factor VIII, combined deficiency of |
| RS387906288 |
HSD3B7
|
Health Risk |
Likely pathogenic |
Congenital bile acid synthesis defect 1, Congenital bile acid synthesis defect 1 |
| RS387906289 |
SMPD1
|
Health Risk |
Pathogenic |
Niemann-Pick disease, type A |
| RS387906290 |
KCNQ1
|
Health Risk |
Pathogenic |
Long QT syndrome 1, Long QT syndrome |
| RS387906291 |
ADAMTS17
|
Health Risk |
Pathogenic |
Weill-Marchesani 4 syndrome, recessive |
| RS387906293 |
AIRE
|
Health Risk |
Pathogenic |
Polyglandular autoimmune syndrome, type 1 |
| RS387906294 |
AIRE
|
Health Risk |
Pathogenic |
Polyglandular autoimmune syndrome, type 1 |
| RS387906295 |
AIRE
|
Health Risk |
Pathogenic |
Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia |
| RS387906297 |
ACADM
|
Health Risk |
Pathogenic/Likely pathogenic |
Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder |
| RS387906298 |
COQ8A
|
Health Risk |
Pathogenic |
Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency |
| RS387906299 |
COQ8A
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive ataxia due to ubiquinone deficiency, Possible mitochondrial disorder - nuclear genes |
| RS387906301 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS387906302 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS387906303 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS387906304 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS387906305 |
LDLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholesterolemia, familial |
| RS387906306 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS387906307 |
LDLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS387906308 |
ACADS
|
Health Risk |
Pathogenic |
Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS387906309 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Inborn genetic diseases |
| RS387906311 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS387906312 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Retinal dystrophy |
| RS387906313 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS387906314 |
ALDH4A1
|
Health Risk |
Likely pathogenic |
Hyperprolinemia type 2, Hyperprolinemia type 2 |
| RS387906315 |
GBA1
|
Health Risk |
Pathogenic |
Gaucher disease type I, Gaucher disease |
| RS387906316 |
ALS2
|
Health Risk |
Pathogenic |
Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS387906317 |
SLC45A2
|
Health Risk |
Pathogenic |
Oculocutaneous albinism type 4, SKIN/HAIR/EYE PIGMENTATION 5 |
| RS387906318 |
SLC45A2
|
Health Risk |
Likely pathogenic |
Oculocutaneous albinism type 4, Oculocutaneous albinism type 4 |
| RS387906319 |
ALX3
|
Health Risk |
Pathogenic |
Frontorhiny, Frontorhiny |
| RS387906320 |
SOST
|
Health Risk |
Pathogenic |
Sclerosteosis 1, Sclerosteosis 1 |
| RS387906321 |
FOXL2
|
Health Risk |
Pathogenic |
BLEPHAROPHIMOSIS, PTOSIS |
| RS387906322 |
FOXL2
|
Health Risk |
Pathogenic |
BLEPHAROPHIMOSIS, PTOSIS |
| RS387906323 |
ABCG8
|
Health Risk |
Pathogenic/Likely pathogenic |
Sitosterolemia 1, Sitosterolemia 1 |
| RS387906324 |
TRPV4
|
Health Risk |
Likely pathogenic |
Spondyloepimetaphyseal dysplasia, Maroteaux type |
| RS387906325 |
ALX4
|
Health Risk |
Pathogenic |
Parietal foramina 2, Parietal foramina 2 |
| RS387906326 |
AAAS
|
Health Risk |
Pathogenic |
Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia |
| RS387906327 |
ELAC2
|
Health Risk |
Pathogenic |
Prostate cancer, hereditary |
| RS387906328 |
AICDA
|
Health Risk |
Pathogenic |
Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS387906329 |
AICDA
|
Health Risk |
Pathogenic |
Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS387906331 |
WNK1
|
Health Risk |
Pathogenic |
Neuropathy, hereditary sensory and autonomic |
| RS387906332 |
WNK1
|
Health Risk |
Pathogenic |
Neuropathy, hereditary sensory and autonomic |
| RS387906333 |
AASS
|
Health Risk |
Pathogenic |
Hyperlysinemia, Hyperlysinemia |
| RS387906335 |
ABHD5
|
Health Risk |
Pathogenic |
Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS387906336 |
ABHD5
|
Health Risk |
Pathogenic |
Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS387906338 |
ALG6
|
Health Risk |
Pathogenic/Likely pathogenic |
ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C |
| RS387906339 |
PRG4
|
Health Risk |
Pathogenic |
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS387906341 |
ADAMTS13
|
Health Risk |
Pathogenic |
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS387906342 |
ADAMTS13
|
Health Risk |
Pathogenic |
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |