| RS2151015346 |
TP53
|
Health Risk |
Likely pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2151015523 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151015886 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151015993 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151016140 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151016172 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151016523 |
TP53
|
Health Risk |
Likely pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome |
| RS2151017034 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151017144 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome 1 |
| RS2151019295 |
ALDOA
|
Health Risk |
Pathogenic/Likely pathogenic |
HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency |
| RS2151019809 |
ALDOA
|
Health Risk |
Likely pathogenic |
HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency |
| RS2151019863 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS2151020056 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome |
| RS2151020122 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome 1 |
| RS2151020151 |
PKHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2151020303 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2151020426 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome |
| RS2151020653 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Diffuse midline glioma |
| RS2151020665 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151020668 |
PKHD1
|
Health Risk |
Pathogenic |
Pregnancy loss, recurrent |
| RS2151020773 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2151021047 |
TP53
|
Health Risk |
Pathogenic |
Malignant tumor of breast, Li-Fraumeni syndrome |
| RS2151021244 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS2151021274 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2151021354 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151021924 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome 1 |
| RS2151021948 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151022022 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151022189 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome 1 |
| RS2151022531 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151023363 |
BBS4
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2151023937 |
PRKAG2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lethal congenital glycogen storage disease of heart, Cardiomyopathy |
| RS2151024166 |
PRKAG2
|
Health Risk |
Pathogenic |
Lethal congenital glycogen storage disease of heart, Lethal congenital glycogen storage disease of heart |
| RS2151025824 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Tuberous sclerosis syndrome |
| RS2151025914 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151026152 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151026188 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2151026393 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151026447 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome 1 |
| RS2151027842 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151027982 |
TP53
|
Health Risk |
Likely pathogenic |
— |
| RS2151029157 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2151030037 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151030577 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151030744 |
TP53
|
Health Risk |
Pathogenic/Likely pathogenic |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS2151031013 |
TBX6
|
Health Risk |
Pathogenic |
Spondylocostal dysostosis 5, Spondylocostal dysostosis 5 |
| RS2151031193 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151031435 |
TP53
|
Health Risk |
Pathogenic |
Acute myeloid leukemia, Acute myeloid leukemia |
| RS2151031868 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151032368 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151032692 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Acute myeloid leukemia |
| RS2151033162 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome 1 |
| RS2151033643 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS2151033760 |
TP53
|
Health Risk |
Likely pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2151033939 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151033977 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Prostate cancer |
| RS2151034180 |
TP53
|
Health Risk |
Likely pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2151034251 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome |
| RS2151034304 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS2151035560 |
TPK1
|
Health Risk |
Likely pathogenic |
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS2151036048 |
DNAH9
|
Health Risk |
Likely pathogenic |
Ciliary dyskinesia, primary |
| RS2151037977 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151038938 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151039122 |
TP53
|
Health Risk |
Pathogenic |
Acute myeloid leukemia, Acute myeloid leukemia |
| RS2151039468 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151039878 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS2151039987 |
TP53
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2151040269 |
TP53
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome |
| RS2151040540 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151040565 |
RPGRIP1L
|
Health Risk |
Pathogenic |
Joubert syndrome, Meckel-Gruber syndrome |
| RS2151040686 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome 1 |
| RS2151041085 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151041118 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151041421 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151041861 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome 1 |
| RS2151042416 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome 1 |
| RS2151042536 |
TP53
|
Health Risk |
Likely pathogenic |
Breast and/or ovarian cancer, Neoplasm |
| RS2151042609 |
TP53
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2151042631 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151042795 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS2151043202 |
TP53
|
Health Risk |
Pathogenic |
Malignant tumor of breast, Malignant tumor of breast |
| RS2151043336 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151043421 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151043525 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome |
| RS2151043908 |
SIAH1
|
Health Risk |
Pathogenic |
Buratti-Harel syndrome, Buratti-Harel syndrome |
| RS2151043918 |
SIAH1
|
Health Risk |
Pathogenic |
Buratti-Harel syndrome, Buratti-Harel syndrome |
| RS2151043928 |
SIAH1
|
Health Risk |
Likely pathogenic |
Buratti-Harel syndrome, Buratti-Harel syndrome |
| RS2151044011 |
SIAH1
|
Health Risk |
Pathogenic |
Buratti-Harel syndrome, Buratti-Harel syndrome |
| RS2151044091 |
BBS4
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome 4 |
| RS2151044127 |
PIGQ
|
Health Risk |
Pathogenic |
Epilepsy, Epilepsy |
| RS2151044134 |
SIAH1
|
Health Risk |
Likely pathogenic |
Buratti-Harel syndrome, Neurodevelopmental disorder |
| RS2151044152 |
SIAH1
|
Health Risk |
Pathogenic |
Buratti-Harel syndrome, Buratti-Harel syndrome |
| RS2151044300 |
PIGQ
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 77 |
| RS2151044473 |
PIGQ
|
Health Risk |
Pathogenic |
Epilepsy, Epilepsy |
| RS2151045418 |
TP53
|
Health Risk |
Likely pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151045431 |
TP53
|
Health Risk |
Likely pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151045484 |
TP53
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2151045740 |
TP53
|
Health Risk |
Likely pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2151047073 |
PIGQ
|
Health Risk |
Pathogenic |
Epilepsy, Epilepsy |
| RS2151047224 |
TP53
|
Health Risk |
Pathogenic |
7 conditions, Li-Fraumeni syndrome |