| RS2495426115 |
SERPING1
|
Health Risk |
Pathogenic |
— |
| RS2495426294 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency |
| RS2495426301 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495426314 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495426328 |
SERPING1
|
Health Risk |
Pathogenic |
Angioedema, Angioedema |
| RS2495426402 |
SERPING1
|
Health Risk |
Pathogenic |
— |
| RS2495426562 |
SERPING1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495426601 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495426698 |
SERPING1
|
Health Risk |
Likely pathogenic |
— |
| RS2495426721 |
SERPING1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495426787 |
SERPING1
|
Health Risk |
Pathogenic |
Angioedema, Angioedema |
| RS2495427706 |
CD59
|
Health Risk |
Likely pathogenic |
— |
| RS2495428020 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495430901 |
SERPING1
|
Health Risk |
Likely pathogenic |
— |
| RS2495430954 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495431072 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495431104 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495431242 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495431295 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495436147 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495437841 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495440025 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495440304 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495440350 |
SERPING1
|
Health Risk |
Likely pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495440377 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495440402 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495440431 |
SERPING1
|
Health Risk |
Pathogenic |
— |
| RS2495440461 |
SERPING1
|
Health Risk |
Pathogenic |
— |
| RS2495440471 |
SERPING1
|
Health Risk |
Likely pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495440530 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495440542 |
SERPING1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2495440609 |
SERPING1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495440645 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495440825 |
SERPING1
|
Health Risk |
Pathogenic |
SERPING1-related disorder, SERPING1-related disorder |
| RS2495440926 |
SERPING1
|
Health Risk |
Pathogenic |
— |
| RS2495440958 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495440966 |
SERPING1
|
Health Risk |
Likely pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495440974 |
SERPING1
|
Health Risk |
Likely pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495441109 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495442106 |
SERPING1
|
Health Risk |
Pathogenic |
— |
| RS2495442313 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495442396 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495442432 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495442467 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495442501 |
SERPING1
|
Health Risk |
Pathogenic |
— |
| RS2495442672 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495442676 |
SERPING1
|
Health Risk |
Likely pathogenic |
— |
| RS2495443430 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495444900 |
PC
|
Health Risk |
Pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495447338 |
LARGE2;PHF21A
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures |
| RS2495449986 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495450786 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495452074 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495452078 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495452103 |
SERPING1
|
Health Risk |
Pathogenic |
— |
| RS2495452135 |
SERPING1
|
Health Risk |
Likely pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495452187 |
SERPING1
|
Health Risk |
Likely pathogenic |
Angioedema, Angioedema |
| RS2495452211 |
SERPING1
|
Health Risk |
Pathogenic |
— |
| RS2495452285 |
SERPING1
|
Health Risk |
Pathogenic |
— |
| RS2495452418 |
SERPING1
|
Health Risk |
Likely pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495452442 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495452487 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495452515 |
SERPING1
|
Health Risk |
Pathogenic |
— |
| RS2495452578 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495452603 |
SERPING1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495452721 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495452742 |
SERPING1
|
Health Risk |
Likely pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495452880 |
SERPING1
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2495452889 |
SERPING1
|
Health Risk |
Likely pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495452967 |
SERPING1
|
Health Risk |
Pathogenic |
— |
| RS2495453717 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495456777 |
PC
|
Health Risk |
Pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495457094 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495457863 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495457870 |
SERPING1
|
Health Risk |
Pathogenic |
— |
| RS2495457910 |
SERPING1
|
Health Risk |
Likely pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495457970 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495457985 |
SERPING1
|
Health Risk |
Pathogenic |
— |
| RS2495458071 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495458168 |
SERPING1
|
Health Risk |
Likely pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495458177 |
SERPING1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2495458270 |
SERPING1
|
Health Risk |
Pathogenic |
— |
| RS2495458312 |
SERPING1
|
Health Risk |
Likely pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495458466 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495458494 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495458540 |
SERPING1
|
Health Risk |
Pathogenic |
— |
| RS2495458627 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495458739 |
SERPING1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Hereditary angioedema type 1 |
| RS2495458767 |
SERPING1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495459534 |
MYPN
|
Health Risk |
Likely pathogenic |
MYPN-related myopathy, MYPN-related myopathy |
| RS2495460804 |
PLCE1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2495461148 |
MYPN
|
Health Risk |
Pathogenic |
Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK |
| RS2495465726 |
SHANK2
|
Health Risk |
Pathogenic |
Rare disease with autism, Rare disease with autism |
| RS2495465932 |
MYPN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK |
| RS2495467126 |
MYPN
|
Health Risk |
Pathogenic |
Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK |
| RS2495468895 |
PC
|
Health Risk |
Pathogenic/Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495469105 |
SHANK2
|
Health Risk |
Pathogenic |
Autism, susceptibility to |
| RS2495470269 |
SHANK2
|
Health Risk |
Pathogenic |
Autism, susceptibility to |
| RS2495474689 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495478605 |
UNC93B1
|
Health Risk |
Likely pathogenic |
Herpes simplex encephalitis, susceptibility to |