| RS6700677 |
P3H1
|
Health Risk |
Conflicting classifications of pathogenicity |
Osteogenesis imperfecta type 8, Osteogenesis Imperfecta |
| RS67016166 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS67031201 |
COL1A2
|
Health Risk |
Conflicting classifications of pathogenicity |
Osteogenesis imperfecta, Ehlers-Danlos syndrome |
| RS67047253 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS67047255 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS6706088 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS6706924 |
SCN2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy, 11 |
| RS67077695 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS6709752 |
NEB
|
Health Risk |
Conflicting classifications of pathogenicity |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS6711223 |
ZEB2
|
Health Risk |
Pathogenic |
— |
| RS67120076 |
OTC
|
Health Risk |
Likely pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS67156896 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS67162110 |
COL1A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Ehlers-Danlos syndrome, cardiac valvular type |
| RS67163049 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta |
| RS67163050 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS6716782 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Cardiomyopathy |
| RS67180473 |
COL1A2
|
Health Risk |
Pathogenic |
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, Osteogenesis imperfecta type III |
| RS67210352 |
COL1A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS67254669 |
ABCC8
|
Health Risk |
Conflicting classifications of pathogenicity |
Hyperinsulinemic hypoglycemia, familial |
| RS672601244 |
KCNJ18
|
Health Risk |
risk factor |
Thyrotoxic periodic paralysis, susceptibility to |
| RS672601245 |
HPRT1
|
Health Risk |
Pathogenic |
Lesch-Nyhan syndrome, Lesch-Nyhan syndrome |
| RS672601248 |
BTD
|
Health Risk |
Pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS672601249 |
GNA11
|
Health Risk |
Pathogenic |
Familial hypocalciuric hypercalcemia 2, Familial hypocalciuric hypercalcemia 2 |
| RS672601268 |
IL1RN
|
Health Risk |
Pathogenic |
Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis |
| RS672601293 |
DPYS
|
Health Risk |
Conflicting classifications of pathogenicity |
Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency |
| RS672601294 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS672601295 |
FOXF1
|
Health Risk |
Likely pathogenic |
Pyloric stenosis, infantile hypertrophic |
| RS672601306 |
USP8
|
Health Risk |
Pathogenic |
Pituitary dependent hypercortisolism, Pituitary dependent hypercortisolism |
| RS672601307 |
USP8
|
Health Risk |
Pathogenic |
Pituitary dependent hypercortisolism, Pituitary dependent hypercortisolism |
| RS672601308 |
USP8
|
Health Risk |
Pathogenic |
Pituitary dependent hypercortisolism, Pituitary dependent hypercortisolism |
| RS672601311 |
USP8
|
Health Risk |
Pathogenic |
Pituitary dependent hypercortisolism, Pituitary dependent hypercortisolism |
| RS672601312 |
ISG15
|
Health Risk |
Likely pathogenic |
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
| RS672601314 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS672601315 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS672601316 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS672601317 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS672601318 |
CD247
|
Health Risk |
Pathogenic |
Immunodeficiency 25, Immunodeficiency 25 |
| RS672601319 |
SCN8A
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 13 |
| RS672601324 |
MTM1
|
Health Risk |
Likely pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS672601325 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS672601326 |
PRPH2
|
Health Risk |
Pathogenic |
Patterned macular dystrophy 1, Patterned macular dystrophy 1 |
| RS672601330 |
ACY1
|
Health Risk |
Pathogenic |
Aminoacylase 1 deficiency, Aminoacylase 1 deficiency |
| RS672601331 |
EXOSC3
|
Health Risk |
Pathogenic |
Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B |
| RS672601332 |
EXOSC3
|
Health Risk |
Likely pathogenic |
Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B |
| RS672601333 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia |
| RS672601334 |
RIT1
|
Health Risk |
Pathogenic |
Noonan syndrome 8, Noonan syndrome |
| RS672601335 |
RIT1
|
Health Risk |
Pathogenic |
Noonan syndrome 8, Noonan syndrome |
| RS672601336 |
IFIH1
|
Health Risk |
Likely pathogenic |
Aicardi-Goutieres syndrome 7, Spastic diplegia |
| RS672601337 |
BHLHA9
|
Health Risk |
Pathogenic |
Mesoaxial synostotic syndactyly with phalangeal reduction, Mesoaxial synostotic syndactyly with phalangeal reduction |
| RS672601338 |
BHLHA9
|
Health Risk |
Likely pathogenic |
Mesoaxial synostotic syndactyly with phalangeal reduction, Mesoaxial synostotic syndactyly with phalangeal reduction |
| RS672601339 |
BHLHA9
|
Health Risk |
Pathogenic |
Mesoaxial synostotic syndactyly with phalangeal reduction, Mesoaxial synostotic syndactyly with phalangeal reduction |
| RS672601340 |
ZMYND11
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 30 |
| RS672601341 |
ZMYND11
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 30 |
| RS672601342 |
SETBP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 29 |
| RS672601343 |
CDSN
|
Health Risk |
Pathogenic |
Peeling skin syndrome 1, Peeling skin syndrome 1 |
| RS672601344 |
SERPINB7
|
Health Risk |
Pathogenic |
Palmoplantar keratoderma, Nagashima type |
| RS672601345 |
ISG15
|
Health Risk |
Pathogenic |
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
| RS672601346 |
COL4A1
|
Health Risk |
Pathogenic |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies |
| RS672601347 |
COL4A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Inborn genetic diseases |
| RS672601348 |
COL4A1
|
Health Risk |
Pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS672601349 |
COL4A1
|
Health Risk |
Pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS672601350 |
ACY1
|
Health Risk |
Pathogenic |
Aminoacylase 1 deficiency, Aminoacylase 1 deficiency |
| RS672601351 |
GRHPR
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type II |
| RS672601352 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS672601353 |
GPR143
|
Health Risk |
Likely pathogenic |
Ocular albinism, type I |
| RS672601354 |
COL2A1
|
Health Risk |
Pathogenic |
Stickler syndrome, Stickler syndrome |
| RS672601355 |
COL2A1
|
Health Risk |
Pathogenic |
Stickler syndrome, Stickler syndrome |
| RS672601356 |
BEST1
|
Health Risk |
Pathogenic |
Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2 |
| RS672601357 |
FOXL2
|
Health Risk |
Pathogenic |
Blepharophimosis, ptosis |
| RS672601358 |
FOXL2
|
Health Risk |
Pathogenic |
Blepharophimosis, ptosis |
| RS672601359 |
FOXL2
|
Health Risk |
Pathogenic/Likely pathogenic |
Blepharophimosis, ptosis |
| RS672601360 |
TWNK
|
Health Risk |
Pathogenic |
Perrault syndrome 5, Perrault syndrome |
| RS672601361 |
TWNK
|
Health Risk |
Pathogenic |
Perrault syndrome 5, Perrault syndrome |
| RS672601362 |
KIF1A
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 9 |
| RS672601363 |
KIF1A
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 9 |
| RS672601364 |
KIF1A
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 9 |
| RS672601365 |
KIF1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, autosomal dominant 9 |
| RS672601366 |
KIF1A
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 9 |
| RS672601367 |
KIF1A
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 9 |
| RS672601368 |
KIF1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, autosomal dominant 9 |
| RS672601369 |
KIF1A
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 9 |
| RS672601370 |
KIF1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, autosomal dominant 9 |
| RS672601371 |
KIF1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, autosomal dominant 9 |
| RS672601372 |
RARS1
|
Health Risk |
Pathogenic |
Hypomyelinating leukodystrophy 9, Hypomyelinating leukodystrophy 9 |
| RS672601373 |
RARS1
|
Health Risk |
Pathogenic |
Hypomyelinating leukodystrophy 9, Hypomyelinating leukodystrophy 9 |
| RS672601374 |
RARS1
|
Health Risk |
Pathogenic |
Hypomyelinating leukodystrophy 9, Hypomyelinating leukodystrophy 9 |
| RS672601375 |
RARS1
|
Health Risk |
Pathogenic |
Hypomyelinating leukodystrophy 9, Hypomyelinating leukodystrophy 9 |
| RS672601376 |
GRIN2B
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 27 |
| RS672601377 |
GRIN2B
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 27 |
| RS672601378 |
GRIN2B
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, autosomal dominant 6 |
| RS672601379 |
BBS7
|
Health Risk |
Pathogenic/Likely pathogenic |
Bardet-Biedl syndrome 7, Bardet-Biedl syndrome |
| RS67273048 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS67283833 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS67284603 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS67284661 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS67294955 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS67294956 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS67311635 |
CPAP
|
Health Risk |
Conflicting classifications of pathogenicity |
Cholangiocarcinoma, Uterine corpus endometrial carcinoma |
| RS67330615 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS67333670 |
OTC
|
Health Risk |
Likely pathogenic |
— |