| RS2073329654 |
TP53
|
Health Risk |
Pathogenic |
Malignant tumor of esophagus, Malignant tumor of esophagus |
| RS2073330917 |
MYH2
|
Health Risk |
Pathogenic |
Myopathy, proximal |
| RS2073331490 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1 |
| RS2073332791 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2073332970 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2073335561 |
MYH2
|
Health Risk |
Likely pathogenic |
Myopathy, proximal |
| RS2073336758 |
TP53
|
Health Risk |
Pathogenic |
Lip and oral cavity carcinoma, Hereditary cancer-predisposing syndrome |
| RS2073338748 |
TP53
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2073340697 |
MYH2
|
Health Risk |
Pathogenic |
Myopathy, proximal |
| RS2073341609 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2073345648 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2073347757 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2073348422 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2073350107 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073350730 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073351094 |
TP53
|
Health Risk |
Pathogenic/Likely pathogenic |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS2073351165 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073357260 |
MYH2
|
Health Risk |
Likely pathogenic |
Myopathy, proximal |
| RS2073361326 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS2073363435 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2073373034 |
MYH2;MYHAS
|
Health Risk |
Likely pathogenic |
Myopathy, Myopathy |
| RS2073376974 |
TP53
|
Health Risk |
Likely pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome |
| RS2073377305 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS2073379152 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2073379319 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS2073382517 |
SIN3A
|
Health Risk |
Likely pathogenic |
— |
| RS2073391946 |
TP53
|
Health Risk |
Pathogenic |
Colorectal cancer, Colorectal cancer |
| RS2073393106 |
F8
|
Health Risk |
Likely pathogenic |
— |
| RS2073393487 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073394466 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome 1 |
| RS2073395126 |
COL4A3
|
Health Risk |
Pathogenic |
— |
| RS2073395622 |
TP53
|
Health Risk |
Pathogenic/Likely pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome 1 |
| RS2073399686 |
SIN3A
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2073400756 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2073401281 |
COL4A3
|
Health Risk |
Conflicting classifications of pathogenicity |
Alport syndrome, Autosomal dominant Alport syndrome |
| RS2073401408 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2073402086 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2073420861 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073424782 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073428153 |
MYH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Myopathy, proximal |
| RS2073442480 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073444412 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073444610 |
F8
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2073445259 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073446479 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2073446714 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant Alport syndrome, Benign familial hematuria |
| RS2073447990 |
SETBP1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2073448940 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2073450690 |
TP53
|
Health Risk |
Likely pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2073451331 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS2073453049 |
TP53
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome |
| RS2073454735 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2073455679 |
TP53
|
Health Risk |
Pathogenic/Likely pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2073457407 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2073458214 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2073460244 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS2073465664 |
TP53
|
Health Risk |
Pathogenic/Likely pathogenic |
Li-Fraumeni syndrome, Adrenocortical carcinoma |
| RS2073467677 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS2073469226 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Adrenocortical carcinoma |
| RS2073470833 |
TP53
|
Health Risk |
Pathogenic/Likely pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2073479616 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS2073481527 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2073481789 |
TP53
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2073481839 |
ATRX
|
Health Risk |
Likely pathogenic |
Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS2073485358 |
TP53
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2073485631 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS2073486528 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS2073488821 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome 1 |
| RS2073493951 |
TTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Amyloidosis, hereditary systemic 1 |
| RS2073494094 |
TTR
|
Health Risk |
Pathogenic |
Amyloidosis, hereditary systemic 1 |
| RS2073494217 |
TTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Amyloidosis, hereditary systemic 1 |
| RS2073494828 |
MYH2
|
Health Risk |
Pathogenic |
Myopathy, proximal |
| RS2073501817 |
MYH2
|
Health Risk |
Likely pathogenic |
Myopathy, proximal |
| RS2073504844 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2073505429 |
TP53
|
Health Risk |
Likely pathogenic |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS2073510448 |
TTR
|
Health Risk |
Conflicting classifications of pathogenicity |
Amyloidosis, hereditary systemic 1 |
| RS2073510805 |
TTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Amyloidosis, hereditary systemic 1 |
| RS2073510816 |
TTR
|
Health Risk |
Likely pathogenic |
Amyloidosis, hereditary systemic 1 |
| RS2073511411 |
TTR
|
Health Risk |
Pathogenic |
Amyloidosis, hereditary systemic 1 |
| RS2073511444 |
TTR
|
Health Risk |
Likely pathogenic |
Amyloidosis, hereditary systemic 1 |
| RS2073520057 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Adrenocortical carcinoma |
| RS2073520755 |
ASPA
|
Health Risk |
Conflicting classifications of pathogenicity |
Spongy degeneration of central nervous system, Spongy degeneration of central nervous system |
| RS2073522549 |
ASPA
|
Health Risk |
Likely pathogenic |
Spongy degeneration of central nervous system, Spongy degeneration of central nervous system |
| RS2073524362 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Li-Fraumeni syndrome 1 |
| RS2073528142 |
TTR
|
Health Risk |
Conflicting classifications of pathogenicity |
Amyloidosis, hereditary systemic 1 |
| RS2073528836 |
KDM5C
|
Health Risk |
Likely pathogenic |
Intellectual disability, Intellectual disability |
| RS2073534632 |
KDM5C
|
Health Risk |
Pathogenic |
Intellectual disability, Intellectual disability |
| RS2073548872 |
F8
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary factor VIII deficiency disease, F8-related disorder |
| RS2073549219 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073563995 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073564905 |
COL4A3
|
Health Risk |
Likely pathogenic |
— |
| RS2073566187 |
NBEA
|
Health Risk |
Likely pathogenic |
— |
| RS2073567181 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2073573869 |
COL4A3
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome |
| RS2073597802 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073597882 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073599549 |
SIN3A
|
Health Risk |
Pathogenic |
SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related intellectual disability syndrome due to a point mutation |
| RS2073603561 |
SIN3A
|
Health Risk |
Pathogenic |
— |
| RS2073604192 |
SIN3A
|
Health Risk |
Pathogenic |
— |
| RS2073620915 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |