| RS2142380442 |
PALB2
|
Health Risk |
Likely pathogenic |
— |
| RS2142380816 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2142381049 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2142381103 |
MYO15A
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS2142381306 |
MYO15A
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS2142381440 |
MYH3
|
Health Risk |
Likely pathogenic |
MYH3-related disorder, MYH3-related disorder |
| RS2142381989 |
MYO15A
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 3, Hearing impairment |
| RS2142381999 |
MYO15A
|
Health Risk |
Pathogenic |
— |
| RS2142382015 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2142382400 |
MYO15A
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS2142382651 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2142382796 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2142382909 |
CLCN7
|
Health Risk |
Conflicting classifications of pathogenicity |
Disorder of bone, Disorder of bone |
| RS2142383088 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2142383242 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2142384044 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2142384476 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2142384617 |
MYO15A
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS2142384677 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2142385006 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2142386226 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2142386490 |
MYO15A
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS2142386584 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Familial cancer of breast |
| RS2142386632 |
MYO15A
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS2142386640 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2142386665 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2142387013 |
MYO15A
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS2142387348 |
GRIN2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2142388348 |
MYO15A
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS2142388547 |
MYO15A
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS2142388816 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2142388822 |
MYH3
|
Health Risk |
Likely pathogenic |
MYH3-related disorder, MYH3-related disorder |
| RS2142389365 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2142389389 |
GRIN2A
|
Health Risk |
Likely pathogenic |
Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2142389921 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2142389968 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2142390113 |
MYH3
|
Health Risk |
Likely pathogenic |
MYH3-related disorder, MYH3-related disorder |
| RS2142390360 |
TGM5
|
Health Risk |
Likely pathogenic |
Acral peeling skin syndrome, Acral peeling skin syndrome |
| RS2142390387 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2142390444 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2142390682 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2142390867 |
GRIN2A
|
Health Risk |
Likely pathogenic |
Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2142391112 |
MYO15A
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS2142391531 |
GRIN2A
|
Health Risk |
Pathogenic |
— |
| RS2142395080 |
MYH3
|
Health Risk |
Likely pathogenic |
MYH3-related disorder, MYH3-related disorder |
| RS2142395389 |
MYH3
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2142395492 |
MYO15A
|
Health Risk |
Pathogenic |
Ear malformation, Ear malformation |
| RS2142398204 |
MYH3
|
Health Risk |
Likely pathogenic |
MYH3-related disorder, MYH3-related disorder |
| RS2142399174 |
MYO15A
|
Health Risk |
Pathogenic |
— |
| RS2142400070 |
MYH3
|
Health Risk |
Pathogenic |
Contractures, pterygia |
| RS2142400288 |
COQ7
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary coenzyme Q10 deficiency 8, Primary coenzyme Q10 deficiency 8 |
| RS2142400622 |
MYH3
|
Health Risk |
Likely pathogenic |
— |
| RS2142401800 |
MYH3
|
Health Risk |
Pathogenic |
Contractures, pterygia |
| RS2142402072 |
MYH3
|
Health Risk |
Pathogenic |
Contractures, pterygia |
| RS2142402323 |
MYO15A
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS2142404134 |
MYO15A
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS2142404938 |
MYH3
|
Health Risk |
Likely pathogenic |
Arthrogryposis, distal |
| RS2142407941 |
MYH3
|
Health Risk |
Likely pathogenic |
MYH3-related disorder, MYH3-related disorder |
| RS2142408730 |
RAD51D
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Breast-ovarian cancer |
| RS2142409021 |
RAD51D
|
Health Risk |
Pathogenic |
Gastric cancer, Gastric cancer |
| RS2142409238 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2142409569 |
RAD51D
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS2142410052 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2142410756 |
RAD51D
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS2142410813 |
RAD51D
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS2142410876 |
CLCN7
|
Health Risk |
Pathogenic |
— |
| RS2142411065 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2142411300 |
RAD51D
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS2142411343 |
RAD51D
|
Health Risk |
Likely pathogenic |
Breast-ovarian cancer, familial |
| RS2142411421 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2142411591 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2142411904 |
RAD51D
|
Health Risk |
Likely pathogenic |
Breast-ovarian cancer, familial |
| RS2142411968 |
RAD51D
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2142412137 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2142412448 |
RAD51D
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS2142412586 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, PALB2-related cancer predisposition |
| RS2142412914 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2142413310 |
MYO15A
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS2142413318 |
MYO15A
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS2142413600 |
MYH3
|
Health Risk |
Likely pathogenic |
Distal arthrogryposis, Distal arthrogryposis |
| RS2142413627 |
MYH3
|
Health Risk |
Likely pathogenic |
MYH3-related disorder, MYH3-related disorder |
| RS2142415370 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2142416277 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2142416694 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2142416902 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2142417496 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2142417535 |
PALB2
|
Health Risk |
Likely pathogenic |
Breast carcinoma, Breast carcinoma |
| RS2142418150 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2142418386 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2142418516 |
RAD51D
|
Health Risk |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial |
| RS2142418871 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2142418872 |
RAD51D
|
Health Risk |
Likely pathogenic |
Breast-ovarian cancer, familial |
| RS2142418884 |
RAD51D
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Breast-ovarian cancer |
| RS2142418939 |
RAD51D
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS2142419403 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2142420150 |
RAD51D
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS2142420962 |
RAD51D
|
Health Risk |
Likely pathogenic |
Breast-ovarian cancer, familial |
| RS2142421147 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2142421182 |
RAD51D
|
Health Risk |
Likely pathogenic |
Breast-ovarian cancer, familial |
| RS2142421220 |
RAD51D
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |