| RS2543533406 |
CARMIL2
|
Health Risk |
Pathogenic |
— |
| RS2543533564 |
TP53
|
Health Risk |
Likely pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543533875 |
CARMIL2
|
Health Risk |
Pathogenic |
— |
| RS2543534408 |
TP53
|
Health Risk |
Likely pathogenic |
Adrenocortical carcinoma, hereditary |
| RS2543534871 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543535052 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543535308 |
GALNS
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis, MPS-IV-A |
| RS2543535313 |
SLC12A3
|
Health Risk |
Likely pathogenic |
— |
| RS2543535390 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543535637 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543535971 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543536595 |
AMFR
|
Health Risk |
Pathogenic |
Spastic paraplegia 89, autosomal recessive |
| RS2543536786 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543536944 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543537612 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543537706 |
TP53
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543538127 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543538334 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543538575 |
ACSF3
|
Health Risk |
Likely pathogenic |
Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS2543538855 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543538973 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543538990 |
ACSF3
|
Health Risk |
Likely pathogenic |
Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS2543539072 |
ACSF3
|
Health Risk |
Pathogenic |
Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS2543539243 |
MMP2
|
Health Risk |
Pathogenic |
— |
| RS2543540395 |
TP53
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543540561 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543540747 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543541281 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543541435 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543541469 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543542080 |
TP53
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543542317 |
SLC12A3
|
Health Risk |
Likely pathogenic |
— |
| RS2543542397 |
SLC12A3
|
Health Risk |
Likely pathogenic |
— |
| RS2543542412 |
CARMIL2
|
Health Risk |
Pathogenic |
— |
| RS2543542523 |
SLC12A3
|
Health Risk |
Pathogenic |
— |
| RS2543542605 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543542620 |
SLC12A3
|
Health Risk |
Likely pathogenic |
— |
| RS2543542700 |
SLC12A3
|
Health Risk |
Pathogenic |
— |
| RS2543542919 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS2543544318 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543544448 |
TP53
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543544577 |
TP53
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543544806 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543545005 |
CARMIL2
|
Health Risk |
Pathogenic |
— |
| RS2543545366 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543545691 |
CARMIL2
|
Health Risk |
Pathogenic |
— |
| RS2543545760 |
CARMIL2
|
Health Risk |
Pathogenic |
— |
| RS2543545959 |
TP53
|
Health Risk |
Likely pathogenic |
Acute myeloid leukemia, Acute myeloid leukemia |
| RS2543546140 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543546771 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543546928 |
TP53
|
Health Risk |
Likely pathogenic |
Li-Fraumeni syndrome 1, Diffuse glioma |
| RS2543546966 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543547067 |
CARMIL2
|
Health Risk |
Pathogenic/Likely pathogenic |
CARMIL2-related disorder, CARMIL2-related disorder |
| RS2543547129 |
TP53
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543547275 |
CARMIL2
|
Health Risk |
Pathogenic |
— |
| RS2543547290 |
MMP2
|
Health Risk |
Likely pathogenic |
— |
| RS2543547618 |
TP53
|
Health Risk |
Likely pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543547725 |
TP53
|
Health Risk |
Likely pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543548949 |
GALNS
|
Health Risk |
Pathogenic/Likely pathogenic |
Mucopolysaccharidosis, MPS-IV-A |
| RS2543549172 |
GALNS
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-IV-A |
| RS2543550025 |
CARMIL2
|
Health Risk |
Likely pathogenic |
— |
| RS2543550264 |
CARMIL2
|
Health Risk |
Likely pathogenic |
CARMIL2-related disorder, CARMIL2-related disorder |
| RS2543550306 |
GALNS
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-IV-A |
| RS2543550682 |
YWHAE
|
Health Risk |
Likely pathogenic |
YWHAE-associated disorder, YWHAE-associated disorder |
| RS2543552471 |
SLC12A3
|
Health Risk |
Pathogenic |
— |
| RS2543552613 |
CARMIL2
|
Health Risk |
Likely pathogenic |
— |
| RS2543552724 |
SLC12A3
|
Health Risk |
Likely pathogenic |
— |
| RS2543554272 |
CARMIL2
|
Health Risk |
Pathogenic |
— |
| RS2543555931 |
AP1G1
|
Health Risk |
Likely pathogenic |
See cases, See cases |
| RS2543556379 |
TP53
|
Health Risk |
Pathogenic |
TP53-related disorder, TP53-related disorder |
| RS2543556575 |
TP53
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543556588 |
TP53
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543556778 |
TP53
|
Health Risk |
Likely pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543556959 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543557542 |
TP53
|
Health Risk |
Likely pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543557583 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543557785 |
TP53
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543557896 |
SLC12A3
|
Health Risk |
Pathogenic |
— |
| RS2543557937 |
SLC12A3
|
Health Risk |
Pathogenic |
— |
| RS2543557972 |
TP53
|
Health Risk |
Pathogenic/Likely pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome 1 |
| RS2543558212 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543558347 |
TP53
|
Health Risk |
Pathogenic |
— |
| RS2543558391 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543558934 |
TP53
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Neoplasm |
| RS2543559184 |
CDK10
|
Health Risk |
Pathogenic/Likely pathogenic |
Al Kaissi syndrome, Al Kaissi syndrome |
| RS2543559366 |
TP53
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543559728 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome |
| RS2543559880 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543559980 |
SPATA22
|
Health Risk |
Pathogenic |
— |
| RS2543560251 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543560402 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543560792 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543561107 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543561395 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543561894 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543561940 |
TP53
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Adrenocortical carcinoma |
| RS2543562084 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543562338 |
TP53
|
Health Risk |
Likely pathogenic |
Adrenal cortex carcinoma, Adrenal cortex carcinoma |
| RS2543562541 |
TP53
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543562889 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |