| RS1561574950 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Classic or attenuated familial adenomatous polyposis, Hereditary cancer-predisposing syndrome |
| RS1561575998 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS1561576302 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1561576308 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1561576666 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 1, Familial multiple polyposis syndrome |
| RS1561576755 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1561577342 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1561577476 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1561578229 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1561578684 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1561578889 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1561579040 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1561580546 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1561581273 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1561583917 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1561584225 |
CPLANE1
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 17, Orofaciodigital syndrome type 6 |
| RS1561584336 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1561584350 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Ovarian cancer |
| RS1561584736 |
GABRA1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 19 |
| RS1561585111 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS1561585424 |
DOCK2
|
Health Risk |
Likely pathogenic |
DOCK2 deficiency, DOCK2 deficiency |
| RS1561585641 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1561586322 |
KLHL3
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS1561586671 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1561587386 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1561587604 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1561587715 |
GABRA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Idiopathic generalized epilepsy, Epilepsy |
| RS1561587910 |
GABRA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Epilepsy, idiopathic generalized |
| RS1561588017 |
APC
|
Health Risk |
Likely pathogenic |
Familial multiple polyposis syndrome, Familial multiple polyposis syndrome |
| RS1561588104 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Neoplasm |
| RS1561589459 |
APC
|
Health Risk |
Pathogenic |
Familial multiple polyposis syndrome, Familial adenomatous polyposis 1 |
| RS1561590380 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1561590396 |
POU4F3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive sensorineural hearing loss, Hearing loss |
| RS1561590899 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1561591598 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1561594148 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
6 conditions, 6 conditions |
| RS1561594547 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1561597691 |
APC
|
Health Risk |
Pathogenic |
Familial multiple polyposis syndrome, Familial adenomatous polyposis 1 |
| RS1561598017 |
APC
|
Health Risk |
Likely pathogenic |
Familial multiple polyposis syndrome, Familial multiple polyposis syndrome |
| RS1561599054 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1561599823 |
MEGF10
|
Health Risk |
Likely pathogenic |
MEGF10-related myopathy, MEGF10-related myopathy |
| RS1561600715 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1561601114 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1561601398 |
CPLANE1
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 17, Orofaciodigital syndrome type 6 |
| RS1561602876 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS1561602892 |
SLC25A46
|
Health Risk |
Pathogenic |
Pontocerebellar hypoplasia, type 1E |
| RS1561604028 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1561604514 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1561605138 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1561605162 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1561605385 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1561605464 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1561605508 |
APC
|
Health Risk |
Likely pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1561605597 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1561606344 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1561606446 |
SPINK1
|
Health Risk |
Likely pathogenic |
Hereditary pancreatitis, Hereditary pancreatitis |
| RS1561607463 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1561609708 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1561610094 |
SLC25A46
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary motor and sensory |
| RS1561610839 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1561611578 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1561613753 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis |
| RS1561616000 |
KLHL3
|
Health Risk |
Likely pathogenic |
— |
| RS1561617778 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1561618361 |
APC
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1561619003 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS1561619376 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS1561619801 |
NKX2-5
|
Health Risk |
Pathogenic |
Atrial septal defect 7, Atrial septal defect 7 |
| RS1561620875 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1561621507 |
NKX2-5
|
Health Risk |
Pathogenic |
Atrial septal defect 7, Atrial septal defect 7 |
| RS1561622234 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1561622931 |
SGCD
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS1561628206 |
RAD50
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1561634357 |
RAD50
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder |
| RS1561635887 |
RAD50
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder |
| RS1561639434 |
RAD50
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1561639636 |
RAD50
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder |
| RS1561640129 |
RAD50
|
Health Risk |
Likely pathogenic |
— |
| RS1561641010 |
RAD50
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1561641132 |
RAD50
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1561641262 |
F13A1
|
Health Risk |
Pathogenic |
Factor XIII, A subunit |
| RS1561642039 |
RAD50
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1561643029 |
MSX2
|
Health Risk |
Pathogenic |
Parietal foramina with cleidocranial dysplasia, Parietal foramina with cleidocranial dysplasia |
| RS1561643060 |
MSX2
|
Health Risk |
Pathogenic |
Parietal foramina 1, Parietal foramina 1 |
| RS1561645243 |
GABRG2
|
Health Risk |
Pathogenic |
EPILEPSY, CHILDHOOD ABSENCE |
| RS1561645895 |
F13A1
|
Health Risk |
Likely pathogenic |
Factor XIII, A subunit |
| RS1561647410 |
RAD50
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder |
| RS1561647533 |
RAD50
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1561647559 |
RAD50
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1561647611 |
RAD50
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1561650088 |
RAD50
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1561655920 |
CPLANE1
|
Health Risk |
Pathogenic |
— |
| RS1561658011 |
GABRB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual disability, Intellectual disability |
| RS1561658734 |
RAD50
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1561660434 |
ADGRV1
|
Health Risk |
Pathogenic |
Usher syndrome type 2C, Usher syndrome type 2C |
| RS1561660969 |
RAD50
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1561661088 |
RAD50
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder |
| RS1561661777 |
RAD50
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder |
| RS1561662283 |
GABRG2
|
Health Risk |
Pathogenic |
— |
| RS1561664502 |
ITK
|
Health Risk |
Pathogenic |
Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1 |