| RS1567980596 |
ALOX12B
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1567980597 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1567982673 |
ALOX12B
|
Health Risk |
Pathogenic/Likely pathogenic |
Lamellar ichthyosis, Lamellar ichthyosis |
| RS1567985127 |
TMEM94
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with cardiac defects and dysmorphic facies, Intellectual developmental disorder with cardiac defects and dysmorphic facies |
| RS1567985231 |
ALOX12B
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1567985261 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1567985822 |
ALOX12B
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1567989416 |
TMC6
|
Health Risk |
Likely pathogenic |
Epidermodysplasia verruciformis, Epidermodysplasia verruciformis |
| RS1567995497 |
TMC6
|
Health Risk |
Pathogenic |
Epidermodysplasia verruciformis, Epidermodysplasia verruciformis |
| RS1567995650 |
TLK2
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 57 |
| RS1567997496 |
TMC6
|
Health Risk |
Pathogenic |
Epidermodysplasia verruciformis, susceptibility to |
| RS1567999245 |
ALOXE3
|
Health Risk |
Pathogenic |
— |
| RS1567999431 |
ALOXE3
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1568003197 |
TSEN54
|
Health Risk |
Pathogenic |
— |
| RS1568003569 |
TLK2
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 57 |
| RS1568005543 |
ALOXE3
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1568006217 |
TLK2
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 57 |
| RS1568010705 |
GNAL
|
Health Risk |
Likely pathogenic |
— |
| RS1568011732 |
TMC8
|
Health Risk |
Pathogenic |
Epidermodysplasia verruciformis, Epidermodysplasia verruciformis |
| RS1568014839 |
TLK2
|
Health Risk |
Likely pathogenic |
— |
| RS1568015106 |
TLK2
|
Health Risk |
Pathogenic |
— |
| RS1568015131 |
TLK2
|
Health Risk |
Pathogenic |
— |
| RS1568018697 |
RAC3
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Intellectual disability |
| RS1568018905 |
TLK2
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 57 |
| RS1568018920 |
RAC3
|
Health Risk |
Pathogenic; association |
Abnormal brain morphology, Intellectual disability |
| RS1568019012 |
LAMA1
|
Health Risk |
Pathogenic |
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS1568025953 |
MYO5B
|
Health Risk |
Pathogenic |
Congenital microvillous atrophy, Congenital microvillous atrophy |
| RS1568027692 |
TLK2
|
Health Risk |
Pathogenic |
— |
| RS1568028078 |
TLK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual disability, autosomal dominant 57 |
| RS1568037159 |
CANT1
|
Health Risk |
Pathogenic |
— |
| RS1568038811 |
ACE
|
Health Risk |
Likely pathogenic |
ACE-related disorder, Microvascular complications of diabetes |
| RS1568039793 |
DSG1
|
Health Risk |
Pathogenic |
Palmoplantar keratoderma i, striate |
| RS1568043236 |
LAMA1
|
Health Risk |
Pathogenic |
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS1568044300 |
TBCD;LOC126862673
|
Health Risk |
Likely pathogenic |
— |
| RS1568049625 |
MYO5B
|
Health Risk |
Pathogenic |
— |
| RS1568060200 |
ACTG1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant nonsyndromic hearing loss 20, Autosomal dominant nonsyndromic hearing loss 20 |
| RS1568061304 |
LOXHD1
|
Health Risk |
Pathogenic |
— |
| RS1568062215 |
DSG4
|
Health Risk |
Pathogenic |
Hypotrichosis 6, Hypotrichosis 6 |
| RS1568062529 |
ACTG1
|
Health Risk |
Pathogenic |
— |
| RS1568069621 |
PIEZO2
|
Health Risk |
Pathogenic |
Arthrogryposis, distal |
| RS1568070621 |
BPTF
|
Health Risk |
Pathogenic |
— |
| RS1568070817 |
NUP85
|
Health Risk |
Pathogenic |
Nephrotic syndrome, type 17 |
| RS1568075346 |
TBCD
|
Health Risk |
Likely pathogenic |
TBCD-related disorder, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS1568079613 |
POLG2
|
Health Risk |
Pathogenic |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 |
| RS1568090396 |
POLG2
|
Health Risk |
Pathogenic |
— |
| RS1568093387 |
POLG2
|
Health Risk |
Pathogenic |
— |
| RS1568097623 |
SETBP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 29 |
| RS1568098570 |
DSG2
|
Health Risk |
Likely pathogenic |
Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype |
| RS1568101785 |
EPG5
|
Health Risk |
Pathogenic |
Vici syndrome, Vici syndrome |
| RS1568103027 |
EPG5
|
Health Risk |
Pathogenic |
— |
| RS1568105371 |
DSG2
|
Health Risk |
Pathogenic/Likely pathogenic |
Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB |
| RS1568105562 |
FZD2
|
Health Risk |
Likely pathogenic |
Short stature, Short stature |
| RS1568105666 |
FZD2
|
Health Risk |
Pathogenic |
Autosomal dominant omodysplasia, Autosomal dominant Robinow syndrome 2 |
| RS1568107449 |
EPG5
|
Health Risk |
Pathogenic/Likely pathogenic |
Vici syndrome, Vici syndrome |
| RS1568112516 |
EPG5
|
Health Risk |
Likely pathogenic |
Vici syndrome, Vici syndrome |
| RS1568112543 |
EPG5
|
Health Risk |
Likely pathogenic |
Vici syndrome, Vici syndrome |
| RS1568116795 |
EPG5
|
Health Risk |
Conflicting classifications of pathogenicity |
Vici syndrome, Inborn genetic diseases |
| RS1568118775 |
EPG5
|
Health Risk |
Likely pathogenic |
Vici syndrome, Vici syndrome |
| RS1568119124 |
DYM
|
Health Risk |
Pathogenic |
Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS1568133724 |
EPG5
|
Health Risk |
Likely pathogenic |
Vici syndrome, Vici syndrome |
| RS1568133760 |
EPG5
|
Health Risk |
Pathogenic/Likely pathogenic |
Vici syndrome, Vici syndrome |
| RS1568135082 |
ZNF407
|
Health Risk |
Pathogenic |
Neurodevelopmental delay, Short stature |
| RS1568142333 |
EPG5
|
Health Risk |
Pathogenic |
Vici syndrome, Vici syndrome |
| RS1568143319 |
PIGN
|
Health Risk |
Likely pathogenic |
Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS1568149481 |
AFG3L2
|
Health Risk |
Likely pathogenic |
— |
| RS1568149971 |
RNF213
|
Health Risk |
Likely pathogenic |
Moyamoya disease 2, Moyamoya disease 2 |
| RS1568150793 |
EPG5
|
Health Risk |
Pathogenic |
Vici syndrome, Vici syndrome |
| RS1568151207 |
MALT1
|
Health Risk |
Pathogenic |
Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency |
| RS1568162263 |
MED24
|
Health Risk |
Likely pathogenic |
Short stature, Short stature |
| RS1568168835 |
EPG5
|
Health Risk |
Likely pathogenic |
— |
| RS1568169374 |
PIGN
|
Health Risk |
Likely pathogenic |
Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS1568176564 |
ATP8B1
|
Health Risk |
Likely pathogenic |
— |
| RS1568177307 |
GOSR2
|
Health Risk |
Likely pathogenic |
Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS1568177942 |
TBCD
|
Health Risk |
Likely pathogenic |
— |
| RS1568178659 |
MC4R
|
Health Risk |
Likely pathogenic |
Obesity due to melanocortin 4 receptor deficiency, Obesity due to melanocortin 4 receptor deficiency |
| RS1568178734 |
ATP8B1
|
Health Risk |
Likely pathogenic |
Progressive familial intrahepatic cholestasis, Squamous cell lung carcinoma |
| RS1568183127 |
ATP8B1
|
Health Risk |
Pathogenic |
— |
| RS1568183268 |
ATP8B1
|
Health Risk |
Pathogenic |
— |
| RS1568183325 |
SMCHD1
|
Health Risk |
Pathogenic |
— |
| RS1568183567 |
EPG5
|
Health Risk |
Pathogenic |
— |
| RS1568185349 |
PIGN
|
Health Risk |
Pathogenic |
Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS1568188407 |
SMCHD1
|
Health Risk |
Pathogenic |
— |
| RS1568188537 |
ATP8B1
|
Health Risk |
Likely pathogenic |
Benign recurrent intrahepatic cholestasis type 1, Sarcoma |
| RS1568191596 |
TRIM37
|
Health Risk |
Likely pathogenic |
Mulibrey nanism syndrome, Mulibrey nanism syndrome |
| RS1568205077 |
SMAD4
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1568206021 |
SMAD4
|
Health Risk |
Conflicting classifications of pathogenicity |
Juvenile polyposis syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome |
| RS1568206107 |
SMAD4
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1568206162 |
LOXHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77 |
| RS1568206602 |
SMAD4
|
Health Risk |
Pathogenic |
Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome |
| RS1568207119 |
LOXHD1
|
Health Risk |
Likely pathogenic |
— |
| RS1568208159 |
SMAD4
|
Health Risk |
Conflicting classifications of pathogenicity |
Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome |
| RS1568208291 |
SMAD4
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome |
| RS1568208715 |
SMAD4
|
Health Risk |
Likely pathogenic |
Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS1568211170 |
SMAD4
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1568211172 |
SMAD4
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome |
| RS1568211187 |
SMAD4
|
Health Risk |
Pathogenic/Likely pathogenic |
Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS1568211588 |
SMAD4
|
Health Risk |
Likely pathogenic |
Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS1568211604 |
SMAD4
|
Health Risk |
Conflicting classifications of pathogenicity |
Juvenile polyposis syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome |
| RS1568211615 |
SMAD4
|
Health Risk |
Likely pathogenic |
Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS1568212112 |
C3
|
Health Risk |
Pathogenic |
Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency |