| RS398123017 |
RTEL1
|
Health Risk |
Pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS398123018 |
RTEL1
|
Health Risk |
Conflicting classifications of pathogenicity |
Dyskeratosis congenita, autosomal recessive 5 |
| RS398123020 |
UBE3B
|
Health Risk |
Pathogenic |
Oculocerebrofacial syndrome, Kaufman type |
| RS398123021 |
UBE3B
|
Health Risk |
Pathogenic |
Oculocerebrofacial syndrome, Kaufman type |
| RS398123022 |
UBE3B
|
Health Risk |
Pathogenic |
Oculocerebrofacial syndrome, Kaufman type |
| RS398123023 |
UBE3B
|
Health Risk |
Pathogenic |
Oculocerebrofacial syndrome, Kaufman type |
| RS398123024 |
FGF17
|
Health Risk |
risk factor |
Hypogonadotropic hypogonadism 20 with or without anosmia, Hypogonadotropic hypogonadism 20 with or without anosmia |
| RS398123025 |
FGF17
|
Health Risk |
Pathogenic |
Hypogonadotropic hypogonadism 20 without anosmia, Hypogonadotropic hypogonadism 20 without anosmia |
| RS398123028 |
BICD2
|
Health Risk |
Pathogenic |
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Spinal muscular atrophy |
| RS398123029 |
BICD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS398123030 |
BICD2
|
Health Risk |
Pathogenic |
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS398123031 |
BICD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Hereditary spastic paraplegia 3A |
| RS398123032 |
BICD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS398123033 |
CLPP
|
Health Risk |
Pathogenic |
Perrault syndrome 3, Perrault syndrome |
| RS398123034 |
CLPP
|
Health Risk |
Pathogenic |
Perrault syndrome 3, Perrault syndrome |
| RS398123035 |
CLPP
|
Health Risk |
Pathogenic |
Perrault syndrome 3, Autosomal recessive hearing impairment with normal menstrual cycles |
| RS398123036 |
LARS2
|
Health Risk |
Pathogenic/Likely pathogenic |
Perrault syndrome, Perrault syndrome 4 |
| RS398123037 |
LARS2
|
Health Risk |
Pathogenic |
Perrault syndrome 4, Perrault syndrome |
| RS398123038 |
POFUT1
|
Health Risk |
Pathogenic |
Dowling-Degos disease 2, Squamous cell lung carcinoma |
| RS398123039 |
KCNK3
|
Health Risk |
Pathogenic |
Pulmonary hypertension, primary |
| RS398123040 |
KCNK3
|
Health Risk |
Conflicting classifications of pathogenicity |
Pulmonary hypertension, primary |
| RS398123041 |
KCNK3
|
Health Risk |
Pathogenic |
Pulmonary hypertension, primary |
| RS398123042 |
KCNK3
|
Health Risk |
Likely pathogenic |
Pulmonary hypertension, primary |
| RS398123043 |
KCNK3
|
Health Risk |
Pathogenic |
Pulmonary hypertension, primary |
| RS398123044 |
RAB28
|
Health Risk |
Pathogenic |
Cone-rod dystrophy 18, Cone-rod dystrophy |
| RS398123045 |
TUBG1
|
Health Risk |
Pathogenic |
Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4 |
| RS398123046 |
TUBG1
|
Health Risk |
Likely pathogenic |
Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4 |
| RS398123047 |
TUBG1
|
Health Risk |
Pathogenic |
Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4 |
| RS398123048 |
RTEL1
|
Health Risk |
Pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS398123050 |
RTEL1
|
Health Risk |
Conflicting classifications of pathogenicity |
Dyskeratosis congenita, autosomal recessive 5 |
| RS398123051 |
RTEL1
|
Health Risk |
Pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS398123052 |
RTEL1
|
Health Risk |
Pathogenic |
Dyskeratosis congenita, autosomal dominant 4 |
| RS398123054 |
AQP5
|
Health Risk |
Pathogenic |
Palmoplantar keratoderma, Bothnian type |
| RS398123055 |
AQP5
|
Health Risk |
Pathogenic |
Palmoplantar keratoderma, Bothnian type |
| RS398123056 |
AQP5
|
Health Risk |
Pathogenic |
Palmoplantar keratoderma, Bothnian type |
| RS398123057 |
AQP5
|
Health Risk |
Pathogenic |
Palmoplantar keratoderma, Bothnian type |
| RS398123058 |
MALT1
|
Health Risk |
Pathogenic |
Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency |
| RS398123059 |
FBXL4
|
Health Risk |
Conflicting classifications of pathogenicity |
Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS398123060 |
FBXL4
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial DNA depletion syndrome 13, Developmental and epileptic encephalopathy |
| RS398123061 |
FBXL4
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial DNA depletion syndrome 13, Mitochondrial encephalomyopathy |
| RS398123062 |
FBXL4
|
Health Risk |
Likely pathogenic |
Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS398123063 |
PAX5
|
Health Risk |
risk factor |
Leukemia, acute lymphoblastic |
| RS398123064 |
GBA2
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 46, Hereditary spastic paraplegia 46 |
| RS398123066 |
WFS1
|
Health Risk |
Likely pathogenic |
Cataract 41, Cataract 41 |
| RS398123067 |
SLC52A2
|
Health Risk |
Pathogenic |
Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2 |
| RS398123068 |
SLC52A2
|
Health Risk |
Pathogenic |
Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2 |
| RS398123069 |
SLC2A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Epilepsy, idiopathic generalized |
| RS398123070 |
POU4F3
|
Health Risk |
Pathogenic |
Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS398123071 |
ACADM
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS398123072 |
ACADM
|
Health Risk |
Pathogenic |
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS398123073 |
ACADM
|
Health Risk |
Pathogenic |
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS398123074 |
ACADM
|
Health Risk |
Pathogenic |
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS398123075 |
ACADM
|
Health Risk |
Pathogenic/Likely pathogenic |
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS398123079 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS398123080 |
ACADVL
|
Health Risk |
Conflicting classifications of pathogenicity |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS398123082 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS398123083 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS398123084 |
ACADVL
|
Health Risk |
Conflicting classifications of pathogenicity |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS398123085 |
ACADVL
|
Health Risk |
Conflicting classifications of pathogenicity |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS398123089 |
ACADVL
|
Health Risk |
Conflicting classifications of pathogenicity |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS398123090 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS398123091 |
ACADVL
|
Health Risk |
Pathogenic/Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder |
| RS398123092 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS398123096 |
ACAT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS398123097 |
ACAT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS398123098 |
SGCA
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy |
| RS398123100 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS398123102 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, ABCD1-related disorder |
| RS398123103 |
ABCD1
|
Health Risk |
Likely pathogenic |
Thyroid cancer, nonmedullary |
| RS398123104 |
ABCD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS398123105 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Inborn genetic diseases |
| RS398123106 |
ABCD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS398123107 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS398123108 |
ABCD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Adrenoleukodystrophy, Spastic paraplegia |
| RS398123109 |
ABCD1
|
Health Risk |
Pathogenic |
— |
| RS398123110 |
ABCD1
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Adrenoleukodystrophy |
| RS398123111 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS398123112 |
ABCD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS398123113 |
ABCD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS398123114 |
AMPD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency |
| RS398123115 |
AMPD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency |
| RS398123116 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS398123117 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS398123118 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial multiple polyposis syndrome |
| RS398123119 |
APC
|
Health Risk |
Pathogenic |
— |
| RS398123120 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS398123121 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Carcinoma of colon |
| RS398123122 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Desmoid tumor, Familial adenomatous polyposis 1 |
| RS398123123 |
ARSB
|
Health Risk |
Pathogenic/Likely pathogenic |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS398123124 |
ARSB
|
Health Risk |
Conflicting classifications of pathogenicity |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS398123125 |
ARSB
|
Health Risk |
Pathogenic/Likely pathogenic |
Mucopolysaccharidosis type 6, Inborn genetic diseases |
| RS398123126 |
ASL
|
Health Risk |
Conflicting classifications of pathogenicity |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS398123127 |
ASL
|
Health Risk |
Pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS398123128 |
ASL
|
Health Risk |
Conflicting classifications of pathogenicity |
Argininosuccinate lyase deficiency, Inborn genetic diseases |
| RS398123129 |
ASL
|
Health Risk |
Pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS398123130 |
ASS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Citrullinemia type I, Citrullinemia |
| RS398123131 |
ASS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Citrullinemia type I, Citrullinemia |
| RS398123133 |
ATP7A
|
Health Risk |
Pathogenic |
— |
| RS398123135 |
ATP7A
|
Health Risk |
Pathogenic |
X-linked distal spinal muscular atrophy type 3, X-linked distal spinal muscular atrophy type 3 |
| RS398123136 |
ATP7B
|
Health Risk |
Conflicting classifications of pathogenicity |
Wilson disease, Inborn genetic diseases |