| RS2478805008 |
MSH3
|
Health Risk |
Pathogenic |
— |
| RS2478805077 |
MSH3
|
Health Risk |
Pathogenic |
— |
| RS2478805082 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2478805411 |
MSH3
|
Health Risk |
Likely pathogenic |
Endometrial carcinoma, Endometrial carcinoma |
| RS2478805419 |
MSH3
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2478805504 |
MSH3
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome |
| RS2478805727 |
MTRR
|
Health Risk |
Pathogenic |
Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS2478815137 |
NDUFS4
|
Health Risk |
Pathogenic |
Mitochondrial complex I deficiency, nuclear type 1 |
| RS2478815237 |
NDUFS4
|
Health Risk |
Likely pathogenic |
Mitochondrial complex I deficiency, nuclear type 1 |
| RS2478815267 |
NDUFS4
|
Health Risk |
Likely pathogenic |
Mitochondrial complex I deficiency, nuclear type 1 |
| RS2478815275 |
NDUFS4
|
Health Risk |
Likely pathogenic |
Mitochondrial complex I deficiency, nuclear type 1 |
| RS2478818355 |
ARSB
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS2478818657 |
ARSB
|
Health Risk |
Conflicting classifications of pathogenicity |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS2478818781 |
ARSB
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS2478819129 |
ARSB
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS2478822503 |
ARSB
|
Health Risk |
Pathogenic/Likely pathogenic |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS2478839380 |
SLC45A2
|
Health Risk |
Pathogenic |
— |
| RS2478839825 |
SLC45A2
|
Health Risk |
Pathogenic |
— |
| RS2478839974 |
SLC45A2
|
Health Risk |
Likely pathogenic |
SLC45A2-related disorder, SLC45A2-related disorder |
| RS2478841472 |
SLC45A2
|
Health Risk |
Pathogenic |
— |
| RS2478843558 |
AP3B1
|
Health Risk |
Likely pathogenic |
Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS2478868062 |
GFM2
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS2478878722 |
NDUFS4
|
Health Risk |
Likely pathogenic |
Mitochondrial complex I deficiency, nuclear type 1 |
| RS2478878843 |
NDUFS4
|
Health Risk |
Likely pathogenic |
Leigh syndrome, Leigh syndrome |
| RS2478888752 |
CYP4V2
|
Health Risk |
Pathogenic |
— |
| RS2478888763 |
CYP4V2
|
Health Risk |
Likely pathogenic |
Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy |
| RS2478890236 |
MTRR
|
Health Risk |
Likely pathogenic |
Neural tube defects, folate-sensitive |
| RS2478890930 |
MTRR
|
Health Risk |
Pathogenic |
Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS2478892105 |
MTRR
|
Health Risk |
Pathogenic |
Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS2478892282 |
MTRR
|
Health Risk |
Likely pathogenic |
Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS2478898289 |
CYP4V2
|
Health Risk |
Pathogenic |
— |
| RS2478911585 |
SLC45A2
|
Health Risk |
Likely pathogenic |
— |
| RS2478911729 |
SLC45A2
|
Health Risk |
Pathogenic |
— |
| RS2478912585 |
SLC45A2
|
Health Risk |
Pathogenic |
— |
| RS2478921389 |
SLC45A2
|
Health Risk |
Likely pathogenic |
Oculocutaneous albinism type 4, Oculocutaneous albinism type 4 |
| RS2478921511 |
SLC45A2
|
Health Risk |
Pathogenic |
— |
| RS2478921736 |
SLC45A2
|
Health Risk |
Pathogenic |
— |
| RS2478922997 |
SLC45A2
|
Health Risk |
Pathogenic |
— |
| RS2478924297 |
SLC45A2
|
Health Risk |
Pathogenic |
— |
| RS2478924449 |
SLC45A2
|
Health Risk |
Pathogenic |
— |
| RS2478942096 |
MTRR
|
Health Risk |
Likely pathogenic |
Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS2478942250 |
MTRR
|
Health Risk |
Pathogenic |
Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS2478942663 |
MTRR
|
Health Risk |
Pathogenic |
Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS2478943007 |
MTRR
|
Health Risk |
Pathogenic |
Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS2478947085 |
MTRR
|
Health Risk |
Likely pathogenic |
Neural tube defects, folate-sensitive |
| RS2478959250 |
FRYL
|
Health Risk |
Conflicting classifications of pathogenicity |
FRYL-associated neurodevelopmental disorder, FRYL-related developmental disorder |
| RS2478965467 |
MTRR
|
Health Risk |
Likely pathogenic |
Neural tube defects, folate-sensitive |
| RS2478976928 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS2478986417 |
NIPBL
|
Health Risk |
Likely pathogenic |
NIPBL-related disorder, NIPBL-related disorder |
| RS2479004072 |
NIPBL
|
Health Risk |
Likely pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS2479004915 |
NIPBL
|
Health Risk |
Likely pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS2479023142 |
MTRR
|
Health Risk |
Pathogenic |
Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS2479023948 |
MTRR
|
Health Risk |
Likely pathogenic |
Neural tube defects, folate-sensitive |
| RS2479026857 |
NIPBL
|
Health Risk |
Pathogenic |
— |
| RS2479033418 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS2479033684 |
NIPBL
|
Health Risk |
Likely pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS2479052253 |
C6
|
Health Risk |
Likely pathogenic |
— |
| RS2479057315 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479073064 |
MTRR
|
Health Risk |
Pathogenic |
Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS2479075665 |
ETFDH
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479076087 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479076127 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479076294 |
ETFDH
|
Health Risk |
Likely pathogenic |
ETFDH-related disorder, ETFDH-related disorder |
| RS2479076416 |
ETFDH
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479080011 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479080223 |
ETFDH
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479080250 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479080359 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479080515 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479080755 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479080854 |
ETFDH
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479080873 |
ETFDH
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479080929 |
ETFDH
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479086057 |
ETFDH
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479086062 |
ETFDH
|
Health Risk |
Pathogenic/Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479086220 |
ETFDH
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479086315 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479087993 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C |
| RS2479088227 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479099937 |
VCAN
|
Health Risk |
Likely pathogenic |
— |
| RS2479100223 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479100396 |
MTRR
|
Health Risk |
Pathogenic |
Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS2479100979 |
MTRR
|
Health Risk |
Pathogenic/Likely pathogenic |
Methylcobalamin deficiency type cblE, Neural tube defects |
| RS2479101644 |
MTRR
|
Health Risk |
Pathogenic |
Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS2479102700 |
MTRR
|
Health Risk |
Pathogenic |
Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS2479102741 |
MTRR
|
Health Risk |
Pathogenic/Likely pathogenic |
Methylcobalamin deficiency type cblE, Neural tube defects |
| RS2479103276 |
MTRR
|
Health Risk |
Likely pathogenic |
Neural tube defects, folate-sensitive |
| RS2479109570 |
C6
|
Health Risk |
Pathogenic |
— |
| RS2479110961 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479110964 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479111050 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479111092 |
ETFDH
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479111341 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479111562 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479113487 |
VCAN
|
Health Risk |
Pathogenic |
— |
| RS2479116902 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479117006 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479117770 |
ETFDH
|
Health Risk |
Pathogenic/Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Squamous cell lung carcinoma |
| RS2479120830 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479120869 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |