| RS397509418 |
TRAPPC11
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type R18, Muscular dystrophy |
| RS397509419 |
KLHL40
|
Health Risk |
Pathogenic/Likely pathogenic |
Nemaline myopathy 8, Nemaline myopathy 8 |
| RS397509420 |
KLHL40
|
Health Risk |
Pathogenic |
Nemaline myopathy 8, Nemaline myopathy 8 |
| RS397509421 |
KLHL40
|
Health Risk |
Pathogenic |
Nemaline myopathy 8, Nemaline myopathy 8 |
| RS397509422 |
GMPPB
|
Health Risk |
Pathogenic/Likely pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 |
| RS397509423 |
GMPPB
|
Health Risk |
Pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 |
| RS397509424 |
GMPPB
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2T, Autosomal recessive limb-girdle muscular dystrophy type 2T |
| RS397509425 |
GMPPB
|
Health Risk |
Pathogenic/Likely pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 |
| RS397509426 |
GMPPB
|
Health Risk |
Pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 |
| RS397509428 |
ESR1
|
Health Risk |
Pathogenic |
Estrogen resistance syndrome, Estrogen resistance syndrome |
| RS397509431 |
CPT2
|
Health Risk |
Pathogenic |
Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency |
| RS397509432 |
FBLN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects |
| RS397509433 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS397509434 |
HSD11B2
|
Health Risk |
Pathogenic/Likely pathogenic |
Apparent mineralocorticoid excess, Apparent mineralocorticoid excess |
| RS397514029 |
ANK1
|
Health Risk |
Pathogenic |
Hereditary spherocytosis type 1, ANK1-related disorder |
| RS397514030 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS397514031 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS397514032 |
APC
|
Health Risk |
Pathogenic |
Hepatocellular carcinoma, Hepatocellular carcinoma |
| RS397514033 |
PCNT
|
Health Risk |
Pathogenic |
Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II |
| RS397514034 |
SDHD
|
Health Risk |
Pathogenic |
Pheochromocytoma/paraganglioma syndrome 1, Hereditary cancer-predisposing syndrome |
| RS397514036 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS397514037 |
MYH11
|
Health Risk |
Pathogenic/Likely pathogenic |
Aortic aneurysm, familial thoracic 4 |
| RS397514038 |
DSG2
|
Health Risk |
Conflicting classifications of pathogenicity |
Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy |
| RS397514039 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS397514040 |
DSP
|
Health Risk |
Pathogenic |
Lethal acantholytic epidermolysis bullosa, Arrhythmogenic right ventricular dysplasia 8 |
| RS397514041 |
DSC2
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11 |
| RS397514042 |
DSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy |
| RS397514043 |
DSC2
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia, familial |
| RS397514045 |
DSP
|
Health Risk |
Likely pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiovascular phenotype |
| RS397514046 |
PIK3R1
|
Health Risk |
Likely pathogenic |
SHORT syndrome, Inborn genetic diseases |
| RS397514047 |
PIK3R1
|
Health Risk |
Pathogenic |
SHORT syndrome, SHORT syndrome |
| RS397514251 |
SCN5A
|
Health Risk |
Pathogenic |
Long QT syndrome 3, Cardiovascular phenotype |
| RS397514252 |
SCN5A
|
Health Risk |
Pathogenic |
Brugada syndrome 1, Brugada syndrome 1 |
| RS397514253 |
APOE
|
Health Risk |
Pathogenic |
Familial type 3 hyperlipoproteinemia, Familial type 3 hyperlipoproteinemia |
| RS397514254 |
APOE
|
Health Risk |
Pathogenic |
Familial type 3 hyperlipoproteinemia, Familial type 3 hyperlipoproteinemia |
| RS397514255 |
APOB
|
Health Risk |
Pathogenic |
Familial hypobetalipoproteinemia, Familial hypobetalipoproteinemia |
| RS397514256 |
APOB
|
Health Risk |
Pathogenic |
Familial hypobetalipoproteinemia, Familial hypobetalipoproteinemia |
| RS397514257 |
ANKS6
|
Health Risk |
Pathogenic/Likely pathogenic |
Nephronophthisis 16, Nephronophthisis 16 |
| RS397514258 |
ANKS6
|
Health Risk |
Pathogenic |
Nephronophthisis 16, Nephronophthisis 16 |
| RS397514259 |
TRAC
|
Health Risk |
Pathogenic |
TCR-alpha-beta-positive T-cell deficiency, TCR-alpha-beta-positive T-cell deficiency |
| RS397514260 |
ITK
|
Health Risk |
Pathogenic |
Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1 |
| RS397514261 |
ITK
|
Health Risk |
Likely pathogenic |
Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1 |
| RS397514262 |
ERBB4
|
Health Risk |
Pathogenic |
Amyotrophic lateral sclerosis type 19, Amyotrophic lateral sclerosis type 19 |
| RS397514263 |
ERBB4
|
Health Risk |
Conflicting classifications of pathogenicity |
Amyotrophic lateral sclerosis type 19, Amyotrophic lateral sclerosis type 19 |
| RS397514331 |
NFKB2
|
Health Risk |
Pathogenic |
Immunodeficiency, common variable |
| RS397514332 |
NFKB2;PSD
|
Health Risk |
Pathogenic |
Immunodeficiency, common variable |
| RS397514333 |
BTD
|
Health Risk |
Conflicting classifications of pathogenicity |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514334 |
BTD
|
Health Risk |
Pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514335 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514336 |
BTD
|
Health Risk |
Pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514339 |
BTD
|
Health Risk |
Pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514341 |
BTD
|
Health Risk |
Pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514343 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514345 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, BTD-related disorder |
| RS397514347 |
BTD
|
Health Risk |
Pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514348 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514349 |
BTD
|
Health Risk |
Pathogenic |
— |
| RS397514350 |
BTD
|
Health Risk |
Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514352 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514354 |
BTD
|
Health Risk |
Conflicting classifications of pathogenicity |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514355 |
BTD
|
Health Risk |
Conflicting classifications of pathogenicity |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514356 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514357 |
BTD
|
Health Risk |
Conflicting classifications of pathogenicity |
Biotinidase deficiency, Inborn genetic diseases |
| RS397514359 |
BTD
|
Health Risk |
Conflicting classifications of pathogenicity |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514360 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514361 |
BTD
|
Health Risk |
Conflicting classifications of pathogenicity |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514362 |
BTD
|
Health Risk |
Pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514363 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514364 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514365 |
BTD
|
Health Risk |
Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514367 |
BTD
|
Health Risk |
Pathogenic |
Biotinidase deficiency, Inborn genetic diseases |
| RS397514369 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514370 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514371 |
BTD
|
Health Risk |
Pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514373 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514375 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, BTD-related disorder |
| RS397514376 |
BTD
|
Health Risk |
Conflicting classifications of pathogenicity |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514377 |
BTD
|
Health Risk |
Conflicting classifications of pathogenicity |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514379 |
BTD
|
Health Risk |
Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514380 |
BTD
|
Health Risk |
Conflicting classifications of pathogenicity |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514381 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514382 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514383 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514384 |
BTD
|
Health Risk |
Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514387 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514388 |
BTD
|
Health Risk |
Pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514389 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Intellectual disability |
| RS397514391 |
BTD
|
Health Risk |
Conflicting classifications of pathogenicity |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514392 |
BTD
|
Health Risk |
Conflicting classifications of pathogenicity |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514393 |
BTD
|
Health Risk |
Pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514394 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514395 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514396 |
BTD
|
Health Risk |
Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514398 |
BTD
|
Health Risk |
Pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514401 |
BTD
|
Health Risk |
Pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514402 |
BTD
|
Health Risk |
Pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514404 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514406 |
BTD
|
Health Risk |
Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514408 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514410 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |