| RS2136337304 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Familial cancer of breast |
| RS2136338211 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS2136338728 |
VWF
|
Health Risk |
Likely pathogenic |
Hereditary von Willebrand disease, Hereditary von Willebrand disease |
| RS2136338765 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 1, von Willebrand disease type 1 |
| RS2136339054 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Breast carcinoma, Gastric cancer |
| RS2136339259 |
VWF
|
Health Risk |
Likely pathogenic |
— |
| RS2136353868 |
LEMD3
|
Health Risk |
Pathogenic/Likely pathogenic |
Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata |
| RS2136354346 |
CREB3L1
|
Health Risk |
Likely pathogenic |
— |
| RS2136354664 |
LEMD3
|
Health Risk |
Likely pathogenic |
Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata |
| RS2136354712 |
LEMD3
|
Health Risk |
Likely pathogenic |
— |
| RS2136354786 |
LEMD3
|
Health Risk |
Pathogenic |
Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata |
| RS2136354792 |
LEMD3
|
Health Risk |
Pathogenic/Likely pathogenic |
Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata |
| RS2136355335 |
LEMD3
|
Health Risk |
Pathogenic |
Dermatofibrosis lenticularis disseminata, Osteopoikilosis |
| RS2136355351 |
CDKN1B
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4 |
| RS2136355372 |
CDKN1B
|
Health Risk |
Pathogenic/Likely pathogenic |
Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome |
| RS2136355500 |
CDKN1B
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4 |
| RS2136355513 |
CDKN1B
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4 |
| RS2136355696 |
CDKN1B
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4 |
| RS2136355706 |
CDKN1B
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4 |
| RS2136355715 |
CDKN1B
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4 |
| RS2136355734 |
CDKN1B
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4 |
| RS2136355743 |
CDKN1B
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4 |
| RS2136355842 |
CDKN1B
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4 |
| RS2136355920 |
CDKN1B
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4 |
| RS2136355927 |
EHMT1
|
Health Risk |
Pathogenic |
Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS2136355975 |
CDKN1B
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4 |
| RS2136356028 |
CDKN1B
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome |
| RS2136356126 |
CDKN1B
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4 |
| RS2136356178 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS2136356244 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS2136356368 |
CDKN1B
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4 |
| RS2136356377 |
CDKN1B
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome |
| RS2136357327 |
CDKN1B
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2136358078 |
HOXC13
|
Health Risk |
Pathogenic |
— |
| RS2136358550 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS2136358605 |
LEMD3
|
Health Risk |
Likely pathogenic |
— |
| RS2136358944 |
LEMD3
|
Health Risk |
Likely pathogenic |
— |
| RS2136360259 |
TBX5
|
Health Risk |
Pathogenic |
Aortic valve disease 2, Aortic valve disease 2 |
| RS2136360335 |
TBX5
|
Health Risk |
Pathogenic |
Aortic valve disease 2, Aortic valve disease 2 |
| RS2136372788 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS2136373205 |
TBX5
|
Health Risk |
Pathogenic/Likely pathogenic |
Aortic valve disease 2, Cardiovascular phenotype |
| RS2136373207 |
TBX5
|
Health Risk |
Pathogenic |
Aortic valve disease 2, Aortic valve disease 2 |
| RS2136373795 |
TBX5
|
Health Risk |
Pathogenic |
Aortic valve disease 2, Aortic valve disease 2 |
| RS2136373802 |
TBX5
|
Health Risk |
Pathogenic |
Aortic valve disease 2, Aortic valve disease 2 |
| RS2136373820 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS2136374351 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136375523 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS2136375588 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS2136375625 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS2136375832 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136376158 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS2136378484 |
CEP164
|
Health Risk |
Likely pathogenic |
Nephronophthisis 15, Nephronophthisis 15 |
| RS2136379109 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS2136382972 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 1, von Willebrand disease type 1 |
| RS2136385288 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 3, von Willebrand disease type 1 |
| RS2136385349 |
VWF
|
Health Risk |
Pathogenic |
— |
| RS2136385927 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS2136385937 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS2136387598 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS2136397746 |
TBX5
|
Health Risk |
Pathogenic |
Aortic valve disease 2, Aortic valve disease 2 |
| RS2136397905 |
TBX5
|
Health Risk |
Conflicting classifications of pathogenicity |
Aortic valve disease 2, Cardiovascular phenotype |
| RS2136403361 |
VWF
|
Health Risk |
Pathogenic |
Hereditary von Willebrand disease, Hereditary von Willebrand disease |
| RS2136403386 |
GRIN2B
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS2136403635 |
GRIN2B
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 27 |
| RS2136405082 |
GRIN2B
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 6 |
| RS2136405765 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 1, von Willebrand disease type 1 |
| RS2136406056 |
GRIN2B
|
Health Risk |
Likely pathogenic |
See cases, See cases |
| RS2136406273 |
GRIN2B
|
Health Risk |
Likely pathogenic |
— |
| RS2136408263 |
VWF
|
Health Risk |
Pathogenic |
— |
| RS2136409487 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 3, von Willebrand disease type 2 |
| RS2136409494 |
GRIN2B
|
Health Risk |
Likely pathogenic |
See cases, See cases |
| RS2136409514 |
VWF
|
Health Risk |
Likely pathogenic |
Hereditary von Willebrand disease, von Willebrand disease type 1 |
| RS2136409527 |
ATM
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2136409732 |
GRIN2B
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 6 |
| RS2136409777 |
GRIN2B
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 6 |
| RS2136409921 |
GRIN2B
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 6 |
| RS2136410724 |
TBX5
|
Health Risk |
Pathogenic |
Primary dilated cardiomyopathy, Aortic valve disease 2 |
| RS2136411098 |
TBX5
|
Health Risk |
Likely pathogenic |
Aortic valve disease 2, TBX5-related disorder |
| RS2136411489 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS2136411547 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 1, von Willebrand disease type 1 |
| RS2136411659 |
VWF
|
Health Risk |
Pathogenic/Likely pathogenic |
von Willebrand disease type 1, von Willebrand disease type 2 |
| RS2136411706 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 1, von Willebrand disease type 1 |
| RS2136411988 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 2, von Willebrand disease type 2 |
| RS2136412017 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS2136412168 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 2, von Willebrand disease type 2 |
| RS2136412203 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 2, Von Willebrand disease type 2A |
| RS2136412237 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136412301 |
VWF
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2136412350 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 2, von Willebrand disease type 2 |
| RS2136412494 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS2136412581 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 1, von Willebrand disease type 1 |
| RS2136412749 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS2136412846 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 2, von Willebrand disease type 2 |
| RS2136412985 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS2136413100 |
TRPV4
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth disease axonal type 2C, TRPV4-related disorder |
| RS2136413158 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136413399 |
GRIN2B
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 27 |
| RS2136413513 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS2136413535 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 2, von Willebrand disease type 2 |
| RS2136413547 |
VWF
|
Health Risk |
Likely pathogenic |
Hereditary von Willebrand disease, Von Willebrand disease type 2B |