| RS1060503327 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1060503328 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1060503333 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis |
| RS1060503334 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1060503336 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1060503340 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1060503346 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis |
| RS1060503351 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1060503355 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1060503356 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1060503360 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1060503361 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1060503362 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1060503366 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial multiple polyposis syndrome, Familial adenomatous polyposis 1 |
| RS1060503372 |
APC
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1060503373 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1060503378 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1060503383 |
SYNGAP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1060503384 |
SYNGAP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual disability, autosomal dominant 5 |
| RS1060503386 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1060503388 |
CCNO
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1060503393 |
BMPR1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome |
| RS1060503396 |
BMPR1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome |
| RS1060503407 |
BMPR1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome |
| RS1060503408 |
BMPR1A
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome |
| RS1060503409 |
BMPR1A
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome |
| RS1060503410 |
BMPR1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome |
| RS1060503411 |
BMPR1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome |
| RS1060503414 |
RBM20
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1DD, Cardiovascular phenotype |
| RS1060503418 |
MPZ
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth disease, type I |
| RS1060503420 |
MPZ
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease, type I |
| RS1060503423 |
MPZ
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease, type I |
| RS1060503425 |
SPG7
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7 |
| RS1060503429 |
SPG7
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7 |
| RS1060503430 |
EZH2
|
Health Risk |
Likely pathogenic |
Weaver syndrome, Weaver syndrome |
| RS1060503431 |
SACS
|
Health Risk |
Pathogenic/Likely pathogenic |
Spastic paraplegia, Charlevoix-Saguenay spastic ataxia |
| RS1060503433 |
DNAAF19
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1060503438 |
RASA1
|
Health Risk |
Likely pathogenic |
Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS1060503439 |
RASA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation 1 |
| RS1060503440 |
RASA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Capillary malformation-arteriovenous malformation 1, Basal cell carcinoma |
| RS1060503441 |
RASA1
|
Health Risk |
Pathogenic |
Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation 1 |
| RS1060503462 |
NBN
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly, normal intelligence and immunodeficiency |
| RS1060503463 |
NBN
|
Health Risk |
Pathogenic |
Microcephaly, normal intelligence and immunodeficiency |
| RS1060503466 |
NBN
|
Health Risk |
Pathogenic |
Microcephaly, normal intelligence and immunodeficiency |
| RS1060503467 |
NBN
|
Health Risk |
Likely pathogenic |
Microcephaly, normal intelligence and immunodeficiency |
| RS1060503473 |
NBN
|
Health Risk |
Pathogenic |
Microcephaly, normal intelligence and immunodeficiency |
| RS1060503478 |
NBN
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly, normal intelligence and immunodeficiency |
| RS1060503480 |
NBN
|
Health Risk |
Pathogenic |
Microcephaly, normal intelligence and immunodeficiency |
| RS1060503483 |
NBN
|
Health Risk |
Pathogenic/Likely pathogenic |
Microcephaly, normal intelligence and immunodeficiency |
| RS1060503485 |
NBN
|
Health Risk |
Pathogenic |
Microcephaly, normal intelligence and immunodeficiency |
| RS1060503493 |
REEP1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS1060503494 |
REEP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia |
| RS1060503495 |
DNAI1
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1060503496 |
REEP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS1060503498 |
FBN2
|
Health Risk |
Likely pathogenic |
Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS1060503502 |
FBN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection |
| RS1060503510 |
FBN2
|
Health Risk |
Pathogenic |
Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS1060503511 |
FBN2
|
Health Risk |
Likely pathogenic |
Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS1060503515 |
DNAI1
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Kartagener syndrome |
| RS1060503516 |
CHRNA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS1060503517 |
CHD2
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94 |
| RS1060503519 |
CHD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94 |
| RS1060503526 |
PKD2
|
Health Risk |
Pathogenic |
Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2 |
| RS1060503527 |
RPL5
|
Health Risk |
Pathogenic |
Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS1060503533 |
MET
|
Health Risk |
Conflicting classifications of pathogenicity |
Renal cell carcinoma, Hereditary cancer-predisposing syndrome |
| RS1060503534 |
MET
|
Health Risk |
Conflicting classifications of pathogenicity |
Renal cell carcinoma, Hereditary cancer-predisposing syndrome |
| RS1060503536 |
MET
|
Health Risk |
Conflicting classifications of pathogenicity |
Renal cell carcinoma, Hereditary cancer-predisposing syndrome |
| RS1060503538 |
MET
|
Health Risk |
Conflicting classifications of pathogenicity |
Renal cell carcinoma, Hereditary cancer-predisposing syndrome |
| RS1060503539 |
MET
|
Health Risk |
Conflicting classifications of pathogenicity |
Renal cell carcinoma, Hereditary cancer-predisposing syndrome |
| RS1060503542 |
MET
|
Health Risk |
Conflicting classifications of pathogenicity |
Renal cell carcinoma, Hereditary cancer-predisposing syndrome |
| RS1060503544 |
MET
|
Health Risk |
Conflicting classifications of pathogenicity |
Renal cell carcinoma, Hereditary cancer-predisposing syndrome |
| RS1060503549 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS1060503552 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS1060503557 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS1060503558 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS1060503560 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS1060503561 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS1060503562 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS1060503568 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS1060503583 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS1060503584 |
DICER1
|
Health Risk |
Pathogenic/Likely pathogenic |
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS1060503596 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS1060503601 |
DICER1
|
Health Risk |
Conflicting classifications of pathogenicity |
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS1060503605 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, Pleuropulmonary blastoma |
| RS1060503614 |
DICER1
|
Health Risk |
Conflicting classifications of pathogenicity |
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS1060503616 |
DICER1
|
Health Risk |
Conflicting classifications of pathogenicity |
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS1060503617 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS1060503625 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, Rhabdomyosarcoma |
| RS1060503627 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS1060503628 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS1060503631 |
DICER1
|
Health Risk |
Conflicting classifications of pathogenicity |
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS1060503632 |
DICER1
|
Health Risk |
Conflicting classifications of pathogenicity |
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS1060503633 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS1060503640 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS1060503647 |
DICER1
|
Health Risk |
Conflicting classifications of pathogenicity |
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS1060503649 |
DICER1
|
Health Risk |
Conflicting classifications of pathogenicity |
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS1060503652 |
DICER1
|
Health Risk |
Conflicting classifications of pathogenicity |
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS1060503655 |
DICER1
|
Health Risk |
Conflicting classifications of pathogenicity |
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS1060503662 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS1060503665 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |