| RS875989867 |
ACADM
|
Health Risk |
Pathogenic |
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS875989869 |
ACADM
|
Health Risk |
Pathogenic |
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS875989872 |
ACADM
|
Health Risk |
Pathogenic |
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS875989873 |
ACADM
|
Health Risk |
Pathogenic |
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS875989875 |
ACADM
|
Health Risk |
Pathogenic |
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS875989876 |
ACADM
|
Health Risk |
Pathogenic/Likely pathogenic |
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS875989877 |
ACADM
|
Health Risk |
Pathogenic |
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS875989878 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Inborn genetic diseases |
| RS875989879 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, Inborn genetic diseases |
| RS875989880 |
CDKL5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS875989881 |
SPTBN2
|
Health Risk |
Likely pathogenic |
Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5 |
| RS875989882 |
VPS13B
|
Health Risk |
Pathogenic |
Cohen syndrome, Cohen syndrome |
| RS875989883 |
PHEX
|
Health Risk |
Pathogenic |
Familial X-linked hypophosphatemic vitamin D refractory rickets, Vitamin D-dependent rickets |
| RS875989884 |
L1CAM
|
Health Risk |
Pathogenic/Likely pathogenic |
X-linked hydrocephalus syndrome, L1 syndrome |
| RS875989885 |
SYCE1
|
Health Risk |
Pathogenic |
Premature ovarian failure 12, Premature ovarian failure 12 |
| RS875989887 |
LDLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS875989888 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS875989889 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS875989890 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS875989891 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS875989893 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS875989894 |
LDLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholesterolemia, familial |
| RS875989895 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS875989896 |
LDLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholesterolemia, familial |
| RS875989897 |
LDLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholesterolemia, familial |
| RS875989898 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS875989899 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS875989900 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS875989901 |
LDLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholesterolemia, familial |
| RS875989902 |
LDLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholesterolemia, familial |
| RS875989903 |
LDLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholesterolemia, familial |
| RS875989905 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS875989906 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS875989907 |
LDLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholesterolemia, familial |
| RS875989908 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS875989909 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS875989910 |
LDLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholesterolemia, familial |
| RS875989911 |
LDLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholesterolemia, familial |
| RS875989912 |
LDLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholesterolemia, familial |
| RS875989913 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS875989914 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS875989915 |
LDLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholesterolemia, familial |
| RS875989916 |
LDLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholesterolemia, familial |
| RS875989917 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS875989918 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS875989919 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS875989920 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS875989921 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS875989922 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS875989925 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS875989926 |
LDLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholesterolemia, familial |
| RS875989927 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS875989928 |
LDLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS875989929 |
LDLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS875989930 |
LDLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholesterolemia, familial |
| RS875989931 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS875989932 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS875989933 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS875989934 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS875989935 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS875989936 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS875989937 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS875989938 |
LDLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholesterolemia, familial |
| RS875989940 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS875989941 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS875989942 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS875989943 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS875989944 |
LDLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS875989946 |
IDUA
|
Health Risk |
Conflicting classifications of pathogenicity |
Hurler syndrome, Mucopolysaccharidosis type 1 |
| RS875989947 |
IDUA
|
Health Risk |
Pathogenic |
Hurler syndrome, Mucopolysaccharidosis type 1 |
| RS875989948 |
ASL
|
Health Risk |
Pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS875989949 |
SGCG
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS875989950 |
CDKL5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS875989951 |
SLC26A2
|
Health Risk |
Pathogenic |
Atelosteogenesis type II, Atelosteogenesis type II |
| RS875989952 |
GNPTAB
|
Health Risk |
Pathogenic |
Mucolipidosis type II, Pseudo-Hurler polydystrophy |
| RS876657369 |
PLCE1
|
Health Risk |
Pathogenic |
Nephrotic syndrome, type 3 |
| RS876657370 |
PLCE1
|
Health Risk |
Pathogenic |
Nephrotic syndrome, type 3 |
| RS876657371 |
TMIE
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 6, Autosomal recessive nonsyndromic hearing loss 6 |
| RS876657374 |
NECTIN1
|
Health Risk |
Pathogenic |
Cleft lip/palate-ectodermal dysplasia syndrome, Cleft lip/palate-ectodermal dysplasia syndrome |
| RS876657376 |
CYP24A1
|
Health Risk |
Pathogenic |
Hypercalcemia, infantile |
| RS876657377 |
NCF4
|
Health Risk |
Pathogenic |
Granulomatous disease, chronic |
| RS876657378 |
SMARCA4
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 16 |
| RS876657379 |
ARID1B
|
Health Risk |
Pathogenic |
Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS876657380 |
ARID1B
|
Health Risk |
Pathogenic |
Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS876657381 |
ARID1B
|
Health Risk |
Pathogenic |
Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS876657382 |
ARID1B
|
Health Risk |
Pathogenic |
Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS876657383 |
PPP2R5D
|
Health Risk |
Pathogenic |
Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1 |
| RS876657384 |
NDUFB11
|
Health Risk |
Pathogenic |
Linear skin defects with multiple congenital anomalies 3, Linear skin defects with multiple congenital anomalies 3 |
| RS876657385 |
SNX14
|
Health Risk |
Pathogenic |
Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20 |
| RS876657386 |
SNX14
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive spinocerebellar ataxia 20, SNX14-related disorder |
| RS876657387 |
SNX14
|
Health Risk |
Pathogenic |
Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20 |
| RS876657388 |
EDNRA
|
Health Risk |
Pathogenic |
Mandibulofacial dysostosis with alopecia, Mandibulofacial dysostosis with alopecia |
| RS876657389 |
KCNA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 32 |
| RS876657390 |
KCNA2
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 32 |
| RS876657391 |
ALX4
|
Health Risk |
Pathogenic |
Frontonasal dysplasia with alopecia and genital anomaly, Frontonasal dysplasia with alopecia and genital anomaly |
| RS876657392 |
TTC7A
|
Health Risk |
Pathogenic |
Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1 |
| RS876657393 |
TTC7A
|
Health Risk |
Likely pathogenic |
Gastrointestinal defects and immunodeficiency syndrome 1, Gastrointestinal defects and immunodeficiency syndrome 1 |
| RS876657394 |
THRA
|
Health Risk |
Pathogenic |
Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6 |
| RS876657395 |
THRA
|
Health Risk |
Pathogenic |
Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6 |
| RS876657396 |
THRA
|
Health Risk |
Pathogenic |
Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6 |