| RS1060502185 |
SCN1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Early-infantile DEE, Early-infantile DEE |
| RS1060502186 |
SCN1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Early-infantile DEE, Early-infantile DEE |
| RS1060502187 |
SCN1A
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS1060502188 |
SCN1A
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS1060502189 |
SCN1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe myoclonic epilepsy in infancy, Early-infantile DEE |
| RS1060502190 |
SCN1A
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS1060502202 |
DNAI2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1060502204 |
DYNC1H1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases |
| RS1060502210 |
LMNA
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS1060502211 |
LMNA
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS1060502214 |
LMNA
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS1060502215 |
LMNA
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS1060502216 |
LMNA
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease type 2, Cardiomyopathy |
| RS1060502224 |
CYP7B1
|
Health Risk |
Pathogenic/Likely pathogenic |
Spastic paraplegia, Congenital bile acid synthesis defect 3 |
| RS1060502226 |
SPAST
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS1060502227 |
SPAST
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 4, Pes valgus |
| RS1060502228 |
SPAST
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 4, SPAST-related disorder |
| RS1060502229 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS1060502230 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS1060502231 |
SPAST
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS1060502233 |
NOTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection |
| RS1060502236 |
NOTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection |
| RS1060502238 |
NOTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection |
| RS1060502242 |
COL5A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS1060502245 |
COL5A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Ehlers-Danlos syndrome, classic type |
| RS1060502246 |
COL5A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Ehlers-Danlos syndrome, classic type |
| RS1060502248 |
COL5A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS1060502249 |
COL5A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Ehlers-Danlos syndrome, classic type |
| RS1060502250 |
COL5A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS1060502255 |
COL5A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS1060502258 |
COL5A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS1060502259 |
COL5A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS1060502264 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS1060502265 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502266 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502268 |
PTCH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502271 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS1060502273 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502274 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS1060502277 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Basal cell carcinoma |
| RS1060502278 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS1060502279 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502280 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502281 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502282 |
PTCH1
|
Health Risk |
Likely pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS1060502284 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502285 |
PTCH1
|
Health Risk |
Likely pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS1060502286 |
PTCH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Gorlin syndrome, Holoprosencephaly 7 |
| RS1060502287 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS1060502290 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502291 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502292 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502294 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS1060502295 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS1060502297 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS1060502298 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS1060502301 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502302 |
LAMP2
|
Health Risk |
Pathogenic |
Danon disease, Danon disease |
| RS1060502303 |
LAMP2
|
Health Risk |
Pathogenic |
Danon disease, Danon disease |
| RS1060502305 |
LAMP2
|
Health Risk |
Pathogenic |
Danon disease, Danon disease |
| RS1060502306 |
LAMP2
|
Health Risk |
Pathogenic |
Danon disease, Danon disease |
| RS1060502318 |
CAV3
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome, CAV3-related disorder |
| RS1060502324 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502325 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS1060502327 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS1060502328 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS1060502329 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502330 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502331 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS1060502332 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS1060502333 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS1060502334 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS1060502336 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502340 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502341 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502342 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS1060502343 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS1060502344 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502345 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS1060502347 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502348 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502349 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502350 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502351 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502352 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502353 |
BRCA1
|
Health Risk |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS1060502354 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS1060502355 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS1060502356 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS1060502357 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502359 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS1060502360 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS1060502361 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502362 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS1060502363 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502364 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502365 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502367 |
FLCN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS1060502368 |
FLCN
|
Health Risk |
Pathogenic |
Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502369 |
FLCN
|
Health Risk |
Likely pathogenic |
Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |