| RS863225236 |
TMEM67
|
Health Risk |
Pathogenic |
Joubert syndrome 6, Joubert syndrome 6 |
| RS863225237 |
TMEM67
|
Health Risk |
Pathogenic |
Joubert syndrome 6, Joubert syndrome 6 |
| RS863225238 |
TMEM67
|
Health Risk |
Likely pathogenic |
Joubert syndrome 6, Meckel syndrome |
| RS863225239 |
TMEM67
|
Health Risk |
Likely pathogenic |
Joubert syndrome 6, Joubert syndrome 6 |
| RS863225240 |
TMEM67
|
Health Risk |
Likely pathogenic |
Joubert syndrome 6, Joubert syndrome and related disorders |
| RS863225241 |
FDPS
|
Health Risk |
Pathogenic |
Porokeratosis 9, multiple types |
| RS863225242 |
DIAPH1
|
Health Risk |
Pathogenic |
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome |
| RS863225243 |
DIAPH1
|
Health Risk |
Pathogenic |
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Deafness |
| RS863225250 |
CLCN2
|
Health Risk |
Likely pathogenic |
Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Familial hyperaldosteronism type II |
| RS863225251 |
CLCN2
|
Health Risk |
Pathogenic |
Leukoencephalopathy with mild cerebellar ataxia and white matter edema, CLCN2-related disorder |
| RS863225252 |
CLCN2
|
Health Risk |
Pathogenic |
Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Familial hyperaldosteronism type II |
| RS863225257 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS863225258 |
SMC3
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS863225259 |
SMC3
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS863225260 |
SMC3
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS863225261 |
SMC3
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS863225262 |
BCKDHA
|
Health Risk |
Pathogenic/Likely pathogenic |
Maple syrup urine disease, Maple syrup urine disease type 1A |
| RS863225264 |
MTOR
|
Health Risk |
Pathogenic |
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Inborn genetic diseases |
| RS863225269 |
MYH6
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS863225270 |
LMNA
|
Health Risk |
Likely pathogenic |
Congenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy 1A |
| RS863225271 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy |
| RS863225272 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy 1, Cardiovascular phenotype |
| RS863225273 |
SCN5A
|
Health Risk |
Pathogenic |
Brugada syndrome, Cardiac arrhythmia |
| RS863225277 |
OPA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form |
| RS863225280 |
ABCC8
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial hyperinsulinism, Hyperinsulinemic hypoglycemia |
| RS863225281 |
ALK
|
Health Risk |
Pathogenic |
Neuroblastoma, susceptibility to |
| RS863225282 |
ALK
|
Health Risk |
Likely pathogenic |
Neuroblastoma, susceptibility to |
| RS863225283 |
ALK
|
Health Risk |
Pathogenic |
Neuroblastoma, susceptibility to |
| RS863225284 |
ALK
|
Health Risk |
Pathogenic |
Neuroblastoma, susceptibility to |
| RS863225285 |
ALK
|
Health Risk |
Pathogenic |
Neuroblastoma, susceptibility to |
| RS863225286 |
PRDM8
|
Health Risk |
Pathogenic |
Early-onset Lafora body disease, Early-onset Lafora body disease |
| RS863225287 |
B2M
|
Health Risk |
Likely pathogenic |
Hypoproteinemia, hypercatabolic |
| RS863225288 |
KCNH2
|
Health Risk |
Pathogenic |
Long QT syndrome 2, Long QT syndrome 2 |
| RS863225289 |
CDKL5
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS863225290 |
CDKL5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS863225291 |
VCP
|
Health Risk |
Pathogenic |
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
| RS863225292 |
GABRA1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 19 |
| RS863225293 |
ALS2
|
Health Risk |
Likely pathogenic |
Infantile-onset ascending hereditary spastic paralysis, Juvenile primary lateral sclerosis |
| RS863225294 |
ALS2
|
Health Risk |
Likely pathogenic |
Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS863225295 |
SCN8A
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 13 |
| RS863225296 |
ANKRD11;TRAPPC2L
|
Health Risk |
Pathogenic/Likely pathogenic |
KBG syndrome, Encephalopathy |
| RS863225297 |
NOTCH3
|
Health Risk |
Pathogenic |
Cerebral arteriopathy, autosomal dominant |
| RS863225298 |
ABCB4
|
Health Risk |
Conflicting classifications of pathogenicity |
Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS863225299 |
ABCB4
|
Health Risk |
Conflicting classifications of pathogenicity |
Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis |
| RS863225300 |
NKX2-1
|
Health Risk |
Pathogenic |
Brain-lung-thyroid syndrome, See cases |
| RS863225304 |
SLC12A5
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 34 |
| RS863225305 |
SLC12A5
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 34 |
| RS863225306 |
SLC12A5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 34 |
| RS863225307 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS863225308 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS863225309 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS863225310 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Carcinoma of colon |
| RS863225311 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS863225313 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS863225314 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS863225315 |
APC
|
Health Risk |
Likely pathogenic |
— |
| RS863225316 |
APC
|
Health Risk |
Likely pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS863225317 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS863225318 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS863225319 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial multiple polyposis syndrome, Familial adenomatous polyposis 1 |
| RS863225320 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS863225321 |
APC
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS863225322 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS863225323 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS863225325 |
APC
|
Health Risk |
Likely pathogenic |
— |
| RS863225326 |
APC
|
Health Risk |
Likely pathogenic |
— |
| RS863225327 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS863225328 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS863225330 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS863225331 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS863225332 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS863225333 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS863225334 |
APC
|
Health Risk |
Likely pathogenic |
— |
| RS863225335 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS863225336 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS863225337 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Carcinoma of colon |
| RS863225338 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS863225339 |
APC
|
Health Risk |
Likely pathogenic |
— |
| RS863225340 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS863225341 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS863225342 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS863225343 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS863225344 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS863225345 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS863225346 |
APC
|
Health Risk |
Likely pathogenic |
— |
| RS863225347 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial multiple polyposis syndrome |
| RS863225348 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS863225350 |
APC
|
Health Risk |
Likely pathogenic |
— |
| RS863225351 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS863225352 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS863225353 |
APC
|
Health Risk |
Likely pathogenic |
— |
| RS863225355 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS863225356 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS863225357 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Atypical endometrial hyperplasia |
| RS863225358 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS863225359 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS863225360 |
APC
|
Health Risk |
Pathogenic |
— |
| RS863225361 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS863225362 |
APC
|
Health Risk |
Pathogenic |
Familial multiple polyposis syndrome, Hereditary cancer-predisposing syndrome |
| RS863225363 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |