| RS62514954 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62514955 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62514956 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62514957 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Inborn genetic diseases |
| RS62514958 |
PAH
|
Health Risk |
Likely pathogenic |
Mild non-PKU hyperphenylalanemia, Phenylketonuria |
| RS62514959 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62516060 |
PAH
|
Health Risk |
Pathogenic |
Hyperphenylalaninemia, Phenylketonuria |
| RS62516061 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62516062 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62516063 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62516092 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, See cases |
| RS62516094 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62516095 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62516096 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62516097 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62516098 |
PAH
|
Health Risk |
Conflicting classifications of pathogenicity |
Phenylketonuria, Phenylketonuria |
| RS62516099 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62516101 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62516102 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62516103 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62516109 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62516141 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Polymicrogyria |
| RS62516142 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62516146 |
PAH
|
Health Risk |
Pathogenic/Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62516147 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62516149 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62516150 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62516151 |
PAH
|
Health Risk |
Pathogenic/Likely pathogenic |
Hyperphenylalaninemia, Phenylketonuria |
| RS62516152 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, PAH-related disorder |
| RS62516153 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62516154 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62516155 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62516156 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62516157 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62517163 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62517164 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62517165 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62517166 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Inborn genetic diseases |
| RS62517167 |
PAH
|
Health Risk |
Likely pathogenic |
Mild non-PKU hyperphenylalanemia, Phenylketonuria |
| RS62517168 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62517174 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62517178 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62517180 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, PAH-related disorder |
| RS62517183 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62517194 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Malignant tumor of breast |
| RS62517195 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62517198 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62517199 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62517200 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62517201 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62517204 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62517205 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Hyperphenylalaninemia |
| RS62517206 |
PAH
|
Health Risk |
Conflicting classifications of pathogenicity |
Phenylketonuria, Inborn genetic diseases |
| RS62517207 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62517208 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS62519577 |
KCNQ3
|
Health Risk |
Conflicting classifications of pathogenicity |
Benign neonatal seizures, Seizures |
| RS62541771 |
GNE
|
Health Risk |
Pathogenic |
GNE myopathy, Sialuria |
| RS62542664 |
IFT74
|
Health Risk |
Conflicting classifications of pathogenicity |
Bardet-Biedl syndrome 22, Inborn genetic diseases |
| RS6256 |
PTH
|
Health Risk |
Likely pathogenic |
Primary hyperparathyroidism, Familial hypoparathyroidism |
| RS62576475 |
SETX
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia, Inborn genetic diseases |
| RS62617075 |
PROM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Stargardt disease 4, Retinitis pigmentosa |
| RS62617809 |
TAFAZZIN
|
Health Risk |
Conflicting classifications of pathogenicity |
3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS62619209 |
SCNN1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism, type IB1 |
| RS62619919 |
PHYH
|
Health Risk |
Conflicting classifications of pathogenicity |
Phytanic acid storage disease, Nonsyndromic cleft lip palate |
| RS62619935 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Carcinoma of colon |
| RS62620007 |
AKAP12
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS62620227 |
PIK3R5
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia with oculomotor apraxia type 3, Ataxia with oculomotor apraxia type 3 |
| RS62620697 |
PDCD6IP
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS62620999 |
SCNN1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism, type IB1 |
| RS62621067 |
QARS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, QARS1-related disorder |
| RS62621089 |
DNMT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases |
| RS62621193 |
ARID4A
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, Gastric cancer |
| RS62621664 |
ALDH5A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS62621815 |
P4HTM
|
Health Risk |
Conflicting classifications of pathogenicity |
P4HTM-related disorder, Inborn genetic diseases |
| RS62621875 |
COL4A2
|
Health Risk |
Pathogenic |
— |
| RS62622817 |
SMARCE1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial meningioma, Hereditary cancer-predisposing syndrome |
| RS62623459 |
F2
|
Health Risk |
Conflicting classifications of pathogenicity; risk factor |
PROTHROMBIN TYPE 3, Congenital prothrombin deficiency |
| RS62625011 |
UGT1A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Crigler-Najjar syndrome type 1, Gilbert syndrome |
| RS62625014 |
CNGA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa 49, Retinitis pigmentosa |
| RS62625015 |
CFH
|
Health Risk |
Conflicting classifications of pathogenicity |
Atypical hemolytic-uremic syndrome, Hemolytic uremic syndrome |
| RS62625271 |
PALB2
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS62625272 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS62625276 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS62625277 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS62625278 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS62625284 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS62625299 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS62625300 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS62625301 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS62625303 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS62625304 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS62625306 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS62625307 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS62625308 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS62626270 |
TWNK
|
Health Risk |
Conflicting classifications of pathogenicity |
Infantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia |
| RS62626271 |
TWNK
|
Health Risk |
Conflicting classifications of pathogenicity |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 |
| RS62635000 |
RPGR
|
Health Risk |
Pathogenic |
RPGR-related retinopathy, Primary ciliary dyskinesia |
| RS62635001 |
RPGR
|
Health Risk |
Pathogenic |
Retinal dystrophy, Primary ciliary dyskinesia |
| RS62635002 |
RPGR
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 3, Retinal dystrophy |
| RS62635004 |
RPGR
|
Health Risk |
Likely pathogenic |
RPGR-related retinopathy, RPGR-related retinopathy |