| RS2126316669 |
ETFDH
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2126316699 |
ETFDH
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2126316783 |
ETFDH
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2126316885 |
ETFDH
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2126321079 |
ETFDH
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2126321188 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2126321296 |
ETFDH
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2126324037 |
SLC6A3
|
Health Risk |
Likely pathogenic |
Parkinsonism-dystonia, infantile |
| RS2126353885 |
SLC6A3
|
Health Risk |
Likely pathogenic |
Parkinsonism-dystonia, infantile |
| RS2126387372 |
RETREG1
|
Health Risk |
Likely pathogenic |
— |
| RS2126387706 |
RETREG1
|
Health Risk |
Pathogenic |
— |
| RS2126388556 |
RETREG1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2126402910 |
MAB21L2
|
Health Risk |
Pathogenic |
Colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous microphthalmia-rhizomelic dysplasia syndrome |
| RS2126405266 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2126409121 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2126427825 |
PRDM9
|
Health Risk |
Pathogenic |
Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS2126438478 |
LRBA
|
Health Risk |
Pathogenic |
Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2126458818 |
LRBA
|
Health Risk |
Likely pathogenic |
— |
| RS2126459625 |
FBXW7
|
Health Risk |
Pathogenic |
Developmental delay, hypotonia |
| RS2126459661 |
FBXW7
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental delay, hypotonia |
| RS2126464225 |
FBXW7
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2126466009 |
FBXW7
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2126475180 |
FBXW7
|
Health Risk |
Pathogenic |
FBXW7-related disorder, FBXW7-related disorder |
| RS2126476768 |
FBXW7
|
Health Risk |
Likely pathogenic |
FBXW7-related disorder, FBXW7-related disorder |
| RS2126479012 |
FBXW7
|
Health Risk |
Pathogenic |
Developmental delay, hypotonia |
| RS2126480106 |
NSUN2
|
Health Risk |
Likely pathogenic |
— |
| RS2126481981 |
NSUN2
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal recessive 5 |
| RS2126482199 |
NSUN2
|
Health Risk |
Pathogenic |
— |
| RS2126483278 |
NSUN2
|
Health Risk |
Pathogenic |
— |
| RS2126488480 |
FAT1
|
Health Risk |
Likely pathogenic |
FAT1-related disorder, Neoplasm |
| RS2126493943 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2126497313 |
FBXW7
|
Health Risk |
Likely pathogenic |
Developmental delay, hypotonia |
| RS2126497487 |
FBXW7
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2126499522 |
NSUN2
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal recessive 5 |
| RS2126501368 |
NSUN2
|
Health Risk |
Likely pathogenic |
— |
| RS2126503314 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2126504474 |
NSUN2
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS2126508639 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2126510171 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2126515961 |
FBXW7
|
Health Risk |
Pathogenic |
Developmental delay, hypotonia |
| RS2126516184 |
FBXW7
|
Health Risk |
Likely pathogenic |
— |
| RS2126522051 |
SDHA
|
Health Risk |
Pathogenic |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS2126522171 |
SDHA
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 5 |
| RS2126522675 |
TRIO
|
Health Risk |
Likely pathogenic |
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| RS2126522851 |
SDHA
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 5 |
| RS2126523176 |
TRIO
|
Health Risk |
Likely pathogenic |
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| RS2126525665 |
FBXW7
|
Health Risk |
Pathogenic |
Medulloblastoma WNT activated, Medulloblastoma WNT activated |
| RS2126536419 |
FBXW7
|
Health Risk |
Conflicting classifications of pathogenicity |
FBXW7-related disorder, FBXW7-related disorder |
| RS2126539382 |
SDHA
|
Health Risk |
Pathogenic |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS2126539387 |
SDHA
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2126539529 |
SDHA
|
Health Risk |
Conflicting classifications of pathogenicity |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS2126539644 |
SDHA
|
Health Risk |
Conflicting classifications of pathogenicity |
Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency |
| RS2126539987 |
SDHA
|
Health Risk |
Conflicting classifications of pathogenicity |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS2126542910 |
SDHA
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS2126543272 |
SDHA
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS2126543437 |
SDHA
|
Health Risk |
Conflicting classifications of pathogenicity |
Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency |
| RS2126543441 |
SDHA
|
Health Risk |
Likely pathogenic |
Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency |
| RS2126544181 |
FAT1
|
Health Risk |
Likely pathogenic |
FAT1-related disorder, FAT1-related disorder |
| RS2126546657 |
SDHA
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS2126547233 |
SDHA
|
Health Risk |
Pathogenic |
Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency |
| RS2126547751 |
SDHA
|
Health Risk |
Pathogenic |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS2126547879 |
SDHA
|
Health Risk |
Conflicting classifications of pathogenicity |
Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency |
| RS2126549179 |
SDHA
|
Health Risk |
Pathogenic |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS2126549281 |
SDHA
|
Health Risk |
Pathogenic |
Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency |
| RS2126549741 |
SDHA
|
Health Risk |
Pathogenic |
Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS2126550020 |
SDHA
|
Health Risk |
Likely pathogenic |
— |
| RS2126562296 |
TERT
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, autosomal dominant 2 |
| RS2126563913 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2126564103 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 3 |
| RS2126564662 |
DNAH5
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 3 |
| RS2126566107 |
GLRB
|
Health Risk |
Pathogenic |
Hyperekplexia 2, Hyperekplexia 2 |
| RS2126568596 |
SDHA
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 5 |
| RS2126568833 |
SDHA
|
Health Risk |
Likely pathogenic |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS2126568840 |
SDHA
|
Health Risk |
Likely pathogenic |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS2126573316 |
TERT
|
Health Risk |
Conflicting classifications of pathogenicity |
Dyskeratosis congenita, autosomal dominant 2 |
| RS2126573743 |
TERT
|
Health Risk |
Conflicting classifications of pathogenicity |
Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita |
| RS2126578081 |
SDHA
|
Health Risk |
Pathogenic |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS2126578126 |
SDHA
|
Health Risk |
Pathogenic |
Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency |
| RS2126578502 |
SDHA
|
Health Risk |
Conflicting classifications of pathogenicity |
Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency |
| RS2126582074 |
CYP4V2
|
Health Risk |
Pathogenic |
— |
| RS2126582121 |
CYP4V2
|
Health Risk |
Pathogenic |
Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy |
| RS2126582145 |
CYP4V2
|
Health Risk |
Pathogenic |
— |
| RS2126583593 |
FBXW7
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder, Medulloblastoma WNT activated |
| RS2126584181 |
SDHA
|
Health Risk |
Pathogenic |
— |
| RS2126584187 |
TERT
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, autosomal dominant 2 |
| RS2126584285 |
FBXW7
|
Health Risk |
Pathogenic |
EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma |
| RS2126584472 |
TERT
|
Health Risk |
Conflicting classifications of pathogenicity |
Dyskeratosis congenita, autosomal dominant 2 |
| RS2126585026 |
CYP4V2
|
Health Risk |
Pathogenic |
— |
| RS2126585037 |
CYP4V2
|
Health Risk |
Pathogenic |
— |
| RS2126585681 |
CYP4V2
|
Health Risk |
Likely pathogenic |
— |
| RS2126585710 |
SDHA
|
Health Risk |
Pathogenic |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS2126590811 |
SDHA
|
Health Risk |
Likely pathogenic |
Pheochromocytoma/paraganglioma syndrome 5, Pheochromocytoma/paraganglioma syndrome 5 |
| RS2126595178 |
TERT
|
Health Risk |
Pathogenic |
Dyskeratosis congenita, autosomal dominant 2 |
| RS2126600867 |
CYP4V2
|
Health Risk |
Pathogenic |
Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy |
| RS2126602655 |
SDHA
|
Health Risk |
Pathogenic |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS2126606448 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2126606457 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2126607061 |
DNAH5
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 3 |
| RS2126610509 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2126610936 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |