| RS2497176600 |
FOXRED1
|
Health Risk |
Pathogenic |
— |
| RS2497176732 |
MYO7A
|
Health Risk |
Pathogenic |
— |
| RS2497176796 |
MYO7A
|
Health Risk |
Pathogenic |
— |
| RS2497176999 |
MYO7A
|
Health Risk |
Likely pathogenic |
MYO7A-related disorder, MYO7A-related disorder |
| RS2497177324 |
MEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple endocrine neoplasia, type 1 |
| RS2497177800 |
MYO7A
|
Health Risk |
Pathogenic |
— |
| RS2497178409 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2497178565 |
FOXRED1
|
Health Risk |
Likely pathogenic |
— |
| RS2497178607 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Familial cancer of breast |
| RS2497178838 |
MYO7A
|
Health Risk |
Likely pathogenic |
Usher syndrome type 1, Usher syndrome type 1 |
| RS2497178979 |
MYO7A
|
Health Risk |
Pathogenic |
— |
| RS2497179113 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Familial cancer of breast |
| RS2497179129 |
FOXRED1
|
Health Risk |
Pathogenic |
— |
| RS2497179434 |
FOXRED1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2497179468 |
FOXRED1
|
Health Risk |
Pathogenic |
— |
| RS2497180498 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2497181394 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2497181531 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Ataxia-telangiectasia syndrome |
| RS2497181890 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2497182239 |
USH1C
|
Health Risk |
Pathogenic |
— |
| RS2497183108 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2497183449 |
ATM
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2497183477 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2497183520 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2497185658 |
MYO7A
|
Health Risk |
Pathogenic |
— |
| RS2497185737 |
MYO7A
|
Health Risk |
Pathogenic |
— |
| RS2497186322 |
MYO7A
|
Health Risk |
Pathogenic |
— |
| RS2497186927 |
MYO7A
|
Health Risk |
Likely pathogenic |
Usher syndrome type 1, Usher syndrome type 1 |
| RS2497187010 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS2497187041 |
USH1C
|
Health Risk |
Pathogenic |
— |
| RS2497187064 |
USH1C
|
Health Risk |
Pathogenic/Likely pathogenic |
Usher syndrome type 1C, Usher syndrome type 1C |
| RS2497187090 |
USH1C
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A |
| RS2497187115 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS2497187405 |
FOXRED1
|
Health Risk |
Likely pathogenic |
— |
| RS2497187851 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS2497188705 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS2497189770 |
USH1C
|
Health Risk |
Likely pathogenic |
— |
| RS2497190835 |
FOXRED1
|
Health Risk |
Pathogenic |
— |
| RS2497191181 |
FOXRED1
|
Health Risk |
Pathogenic |
— |
| RS2497194043 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS2497194252 |
FOXRED1
|
Health Risk |
Likely pathogenic |
— |
| RS2497194322 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS2497198641 |
FOXRED1
|
Health Risk |
Likely pathogenic |
— |
| RS2497201682 |
MYO7A
|
Health Risk |
Likely pathogenic |
Usher syndrome type 1, Usher syndrome type 1 |
| RS2497202625 |
FOXRED1
|
Health Risk |
Pathogenic |
— |
| RS2497202889 |
MYO7A
|
Health Risk |
Likely pathogenic |
Usher syndrome type 1, Usher syndrome type 1 |
| RS2497202890 |
MEN1
|
Health Risk |
Likely pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS2497203524 |
MEN1
|
Health Risk |
Likely pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS2497203875 |
MYO7A
|
Health Risk |
Likely pathogenic |
Usher syndrome type 1, Usher syndrome type 1 |
| RS2497204544 |
MEN1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia |
| RS2497205388 |
MYO7A
|
Health Risk |
Likely pathogenic |
Usher syndrome type 1, Usher syndrome type 1 |
| RS2497206716 |
MEN1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2497206877 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS2497207173 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2497207176 |
MEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple endocrine neoplasia, type 1 |
| RS2497207686 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2497207832 |
ATM
|
Health Risk |
Likely pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2497208411 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2497208493 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2497208585 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2497209457 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2497210070 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2497211032 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2497211427 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Ataxia-telangiectasia syndrome |
| RS2497211476 |
ATM
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2497213233 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2497213855 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2497214054 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2497218675 |
MEN1
|
Health Risk |
Likely pathogenic |
— |
| RS2497219158 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS2497220109 |
MYO7A
|
Health Risk |
Pathogenic |
— |
| RS2497220136 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS2497220619 |
MYO7A
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2 |
| RS2497220814 |
MYO7A
|
Health Risk |
Pathogenic |
— |
| RS2497220989 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS2497221075 |
MYO7A
|
Health Risk |
Pathogenic |
Usher syndrome, Usher syndrome |
| RS2497221294 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS2497222507 |
MYO7A
|
Health Risk |
Pathogenic |
— |
| RS2497222958 |
USH1C
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A |
| RS2497223524 |
USH1C
|
Health Risk |
Likely pathogenic |
Usher syndrome type 1C, Usher syndrome type 1C |
| RS2497223701 |
USH1C
|
Health Risk |
Likely pathogenic |
Usher syndrome type 1C, Usher syndrome type 1C |
| RS2497224456 |
MYO7A
|
Health Risk |
Pathogenic |
— |
| RS2497224766 |
MEN1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia |
| RS2497226943 |
MEN1
|
Health Risk |
Likely pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS2497227066 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS2497227200 |
KCNA6
|
Health Risk |
Likely pathogenic |
11 conditions, 11 conditions |
| RS2497227296 |
VWF
|
Health Risk |
Likely pathogenic |
— |
| RS2497227318 |
USH1C
|
Health Risk |
Pathogenic |
— |
| RS2497227407 |
VWF
|
Health Risk |
Likely pathogenic |
Hereditary von Willebrand disease, Hereditary von Willebrand disease |
| RS2497227417 |
VWF
|
Health Risk |
Likely pathogenic |
— |
| RS2497228517 |
USH1C
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A |
| RS2497229814 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS2497231924 |
MYO7A
|
Health Risk |
Pathogenic |
— |
| RS2497233087 |
ANO1
|
Health Risk |
Pathogenic |
Moyamoya disease 7, Moyamoya disease 7 |
| RS2497235136 |
VWF
|
Health Risk |
Likely pathogenic |
Hereditary von Willebrand disease, Hereditary von Willebrand disease |
| RS2497235562 |
MYO7A
|
Health Risk |
Pathogenic |
— |
| RS2497235949 |
MYO7A
|
Health Risk |
Pathogenic |
Usher syndrome, Usher syndrome |
| RS2497236074 |
FGF23
|
Health Risk |
Likely pathogenic |
Autosomal dominant hypophosphatemic rickets, Autosomal dominant hypophosphatemic rickets |
| RS2497238556 |
ATM
|
Health Risk |
Pathogenic |
Gastric cancer, Gastric cancer |
| RS2497240788 |
USH1C
|
Health Risk |
Likely pathogenic |
Usher syndrome, Usher syndrome |