| RS587779362 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS587779363 |
BRCA2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Breast-ovarian cancer |
| RS587779364 |
BRCA2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Breast-ovarian cancer |
| RS587779365 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS587779366 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS587779368 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS587779380 |
HDAC8
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS587779381 |
NFIX
|
Health Risk |
Pathogenic |
Malan overgrowth syndrome, Malan overgrowth syndrome |
| RS587779388 |
AP4B1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 47, Inborn genetic diseases |
| RS587779390 |
MYH7
|
Health Risk |
Pathogenic |
MYH7-related skeletal myopathy, MYH7-related skeletal myopathy |
| RS587779391 |
MYH7
|
Health Risk |
Pathogenic |
MYH7-related skeletal myopathy, MYH7-related skeletal myopathy |
| RS587779392 |
MYH7
|
Health Risk |
Likely pathogenic |
MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy |
| RS587779393 |
MYH7
|
Health Risk |
Pathogenic |
MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy |
| RS587779396 |
MYH7
|
Health Risk |
Pathogenic |
Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy |
| RS587779397 |
CLN3
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3 |
| RS587779398 |
FUCA1
|
Health Risk |
Pathogenic |
Fucosidosis, Fucosidosis |
| RS587779399 |
FUCA1
|
Health Risk |
Pathogenic |
Fucosidosis, Fucosidosis |
| RS587779400 |
GUSB
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7 |
| RS587779401 |
IDUA
|
Health Risk |
Likely pathogenic |
Hurler syndrome, Mucopolysaccharidosis type 1 |
| RS587779402 |
CTSA
|
Health Risk |
Pathogenic |
Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS587779403 |
GLB1
|
Health Risk |
Pathogenic |
Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis |
| RS587779404 |
GLB1
|
Health Risk |
Pathogenic |
Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis |
| RS587779405 |
GM2A
|
Health Risk |
Pathogenic |
Tay-Sachs disease, variant AB |
| RS587779406 |
HEXA
|
Health Risk |
Pathogenic/Likely pathogenic |
Tay-Sachs disease, Inborn genetic diseases |
| RS587779407 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS587779408 |
SMPD1
|
Health Risk |
Pathogenic |
Ceroid lipofuscinosis, neuronal |
| RS587779410 |
SLC17A5
|
Health Risk |
Conflicting classifications of pathogenicity |
Sialic acid storage disease, severe infantile type |
| RS587779411 |
CLN8
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis |
| RS587779413 |
TCIRG1
|
Health Risk |
Likely pathogenic |
— |
| RS587779414 |
MYH7
|
Health Risk |
Pathogenic |
MYH7-related skeletal myopathy, MYH7-related skeletal myopathy |
| RS587779415 |
MYH7
|
Health Risk |
Pathogenic |
MYH7-related skeletal myopathy, MYH7-related skeletal myopathy |
| RS587779416 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779417 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779418 |
COL3A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779419 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779420 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779421 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779422 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779423 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779424 |
COL3A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779425 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779426 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779427 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779428 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779429 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779430 |
COL3A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779431 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779432 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779433 |
COL3A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779434 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779435 |
COL3A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779436 |
COL3A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779437 |
COL3A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779438 |
COL3A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779439 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779440 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779441 |
COL3A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779442 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779443 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779444 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779445 |
COL3A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779446 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779447 |
COL3A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779448 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779449 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779450 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779451 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779452 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779453 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779454 |
COL3A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779455 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779456 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779457 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779458 |
COL3A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779459 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779460 |
COL3A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779461 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779462 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779463 |
COL3A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779464 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779465 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779466 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779467 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779468 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779469 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779470 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779471 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779472 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779473 |
COL3A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779474 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779475 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779476 |
COL3A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779477 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779478 |
COL3A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779479 |
COL3A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779480 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779481 |
COL3A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779482 |
COL3A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779483 |
COL3A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS587779484 |
COL3A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |