| RS121964997 |
HMGCL
|
Health Risk |
Pathogenic |
Deficiency of hydroxymethylglutaryl-CoA lyase, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS121964998 |
HMGCL
|
Health Risk |
Pathogenic |
Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS121964999 |
DBT
|
Health Risk |
Pathogenic/Likely pathogenic |
Maple syrup urine disease, See cases |
| RS121965000 |
DBT
|
Health Risk |
Pathogenic |
Maple syrup urine disease type 2, Maple syrup urine disease type 2 |
| RS121965001 |
DBT
|
Health Risk |
Pathogenic |
Maple syrup urine disease type 2, Maple syrup urine disease type 2 |
| RS121965002 |
DBT
|
Health Risk |
Pathogenic |
Maple syrup urine disease type 2, Maple syrup urine disease type 2 |
| RS121965003 |
DBT
|
Health Risk |
Pathogenic |
Maple syrup urine disease type 2, Maple syrup urine disease |
| RS121965004 |
BCKDHB
|
Health Risk |
Likely pathogenic |
Maple syrup urine disease type 1B, Maple syrup urine disease |
| RS121965005 |
BCKDHB
|
Health Risk |
Pathogenic |
Maple syrup urine disease type 1B, Maple syrup urine disease type 1B |
| RS121965006 |
CYB5R3
|
Health Risk |
Pathogenic |
METHEMOGLOBINEMIA, TYPE II |
| RS121965007 |
CYB5R3
|
Health Risk |
Likely pathogenic |
METHEMOGLOBINEMIA, TYPE I |
| RS121965008 |
CYB5R3
|
Health Risk |
Pathogenic |
METHEMOGLOBINEMIA, TYPE I |
| RS121965010 |
CYB5R3
|
Health Risk |
Pathogenic |
METHEMOGLOBINEMIA, TYPE II |
| RS121965011 |
CYB5R3
|
Health Risk |
Pathogenic |
METHEMOGLOBINEMIA, TYPE II |
| RS121965012 |
CYB5R3
|
Health Risk |
Pathogenic |
METHEMOGLOBINEMIA, TYPE II |
| RS121965014 |
CYB5R3
|
Health Risk |
Pathogenic |
METHEMOGLOBINEMIA, TYPE II |
| RS121965015 |
CYB5R3
|
Health Risk |
Pathogenic |
METHEMOGLOBINEMIA, TYPE I |
| RS121965016 |
CYB5R3
|
Health Risk |
Pathogenic/Likely pathogenic |
METHEMOGLOBINEMIA, TYPE I |
| RS121965017 |
CYB5R3
|
Health Risk |
Likely pathogenic |
METHEMOGLOBINEMIA, TYPE I |
| RS121965018 |
CYB5R3
|
Health Risk |
Conflicting classifications of pathogenicity |
METHEMOGLOBINEMIA, TYPE I |
| RS121965019 |
IDUA
|
Health Risk |
Pathogenic |
Hurler syndrome, Mucopolysaccharidosis type 1 |
| RS121965020 |
IDUA;SLC26A1
|
Health Risk |
Pathogenic |
Hurler syndrome, Mucopolysaccharidosis |
| RS121965021 |
IDUA
|
Health Risk |
Conflicting classifications of pathogenicity |
Hurler syndrome, Mucopolysaccharidosis type 1 |
| RS121965022 |
IDUA
|
Health Risk |
Pathogenic |
Hurler syndrome, Mucopolysaccharidosis type 1 |
| RS121965023 |
IDUA
|
Health Risk |
Likely pathogenic |
Hurler syndrome, Mucopolysaccharidosis type 1 |
| RS121965024 |
IDUA
|
Health Risk |
Pathogenic |
Hurler syndrome, Hurler syndrome |
| RS121965025 |
IDUA
|
Health Risk |
Pathogenic |
Hurler syndrome, Mucopolysaccharidosis type 1 |
| RS121965026 |
IDUA
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis, MPS-I-S |
| RS121965027 |
IDUA
|
Health Risk |
Pathogenic/Likely pathogenic |
Mucopolysaccharidosis, MPS-I-H/S |
| RS121965029 |
IDUA
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-I-H/S |
| RS121965030 |
IDUA
|
Health Risk |
Conflicting classifications of pathogenicity |
IDUA PSEUDODEFICIENCY, Hurler syndrome |
| RS121965031 |
IDUA
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-I-H/S |
| RS121965032 |
IDUA
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-I-H/S |
| RS121965033 |
IDUA
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-I-H/S |
| RS121965034 |
OAT
|
Health Risk |
Pathogenic |
Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS121965035 |
OAT
|
Health Risk |
Pathogenic |
Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS121965036 |
OAT
|
Health Risk |
Pathogenic/Likely pathogenic |
Ornithine aminotransferase deficiency, Retinal dystrophy |
| RS121965037 |
OAT
|
Health Risk |
Pathogenic |
Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS121965038 |
OAT
|
Health Risk |
Pathogenic |
Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS121965039 |
OAT
|
Health Risk |
Conflicting classifications of pathogenicity |
Ornithine aminotransferase deficiency, Hyperornithinemia |
| RS121965040 |
OAT
|
Health Risk |
Pathogenic/Likely pathogenic |
Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS121965041 |
OAT
|
Health Risk |
Pathogenic |
Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS121965042 |
OAT
|
Health Risk |
Pathogenic/Likely pathogenic |
Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS121965043 |
OAT
|
Health Risk |
Pathogenic |
Ornithine aminotransferase deficiency, Hyperornithinemia |
| RS121965044 |
OAT
|
Health Risk |
Pathogenic/Likely pathogenic |
Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS121965045 |
OAT
|
Health Risk |
Likely pathogenic |
Ornithine aminotransferase deficiency, Retinal dystrophy |
| RS121965046 |
OAT
|
Health Risk |
Pathogenic |
Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS121965047 |
OAT
|
Health Risk |
Pathogenic/Likely pathogenic |
Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia, Ornithine aminotransferase deficiency |
| RS121965048 |
OAT
|
Health Risk |
Conflicting classifications of pathogenicity |
Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS121965049 |
OAT
|
Health Risk |
Pathogenic |
Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS121965050 |
OAT
|
Health Risk |
Pathogenic |
Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS121965051 |
OAT
|
Health Risk |
Pathogenic/Likely pathogenic |
Ornithine aminotransferase deficiency, Hyperornithinemia |
| RS121965052 |
OAT
|
Health Risk |
Pathogenic |
Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS121965053 |
OAT
|
Health Risk |
Pathogenic/Likely pathogenic |
Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS121965055 |
OAT
|
Health Risk |
Pathogenic |
Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS121965056 |
OAT
|
Health Risk |
Likely pathogenic |
Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS121965057 |
OAT
|
Health Risk |
Pathogenic/Likely pathogenic |
Ornithine aminotransferase deficiency, Retinal dystrophy |
| RS121965058 |
OAT
|
Health Risk |
Pathogenic |
Ornithine aminotransferase deficiency, Hyperornithinemia |
| RS121965059 |
OAT
|
Health Risk |
Pathogenic/Likely pathogenic |
Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia, Ornithine aminotransferase deficiency |
| RS121965061 |
SERPINF2
|
Health Risk |
Pathogenic |
Alpha-2-plasmin inhibitor deficiency, Alpha-2-plasmin inhibitor deficiency |
| RS121965062 |
SERPINF2
|
Health Risk |
Pathogenic |
Alpha-2-plasmin inhibitor deficiency, Alpha-2-plasmin inhibitor deficiency |
| RS121965063 |
F11
|
Health Risk |
Pathogenic |
Hereditary factor XI deficiency disease, Inborn genetic diseases |
| RS121965064 |
F11
|
Health Risk |
Pathogenic |
Hereditary factor XI deficiency disease, Factor XI |
| RS121965065 |
F11
|
Health Risk |
Pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS121965066 |
F11
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary factor XI deficiency disease, Plasma factor XI deficiency |
| RS121965069 |
F11
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary factor XI deficiency disease, Plasma factor XI deficiency |
| RS121965070 |
F11
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS121965071 |
F11
|
Health Risk |
Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS121965072 |
F11
|
Health Risk |
Pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS121965073 |
FAH
|
Health Risk |
Pathogenic/Likely pathogenic |
Tyrosinemia type I, Tyrosinemia type I |
| RS121965074 |
FAH
|
Health Risk |
Pathogenic/Likely pathogenic |
Tyrosinemia type I, Tyrosinemia type I |
| RS121965075 |
FAH
|
Health Risk |
Pathogenic |
Tyrosinemia type I, FAH-related disorder |
| RS121965076 |
FAH
|
Health Risk |
Conflicting classifications of pathogenicity |
Tyrosinemia type I, Tyrosinemia type I |
| RS121965077 |
FAH
|
Health Risk |
Pathogenic/Likely pathogenic |
Tyrosinemia type I, Tyrosinemia type I |
| RS121965078 |
FAH
|
Health Risk |
Pathogenic/Likely pathogenic |
Tyrosinemia type I, Tyrosinemia type I |
| RS121965079 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 1B, Usher syndrome |
| RS121965080 |
MYO7A
|
Health Risk |
Pathogenic/Likely pathogenic |
Usher syndrome type 1B, Usher syndrome type 1 |
| RS121965081 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome |
| RS121965082 |
MYO7A
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1B |
| RS121965083 |
MYO7A
|
Health Risk |
Pathogenic |
Usher syndrome type 1B, Usher syndrome type 1B |
| RS121965084 |
MYO7A
|
Health Risk |
Pathogenic |
Autosomal dominant nonsyndromic hearing loss 11, Autosomal dominant nonsyndromic hearing loss 11 |
| RS121965085 |
MYO7A
|
Health Risk |
Pathogenic |
Usher syndrome type 1B, Rare genetic deafness |
| RS121965086 |
LIPA
|
Health Risk |
Pathogenic |
Wolman disease, Lysosomal acid lipase deficiency |
| RS121965087 |
LIPA
|
Health Risk |
Pathogenic |
Wolman disease, Wolman disease |
| RS121965088 |
XPC
|
Health Risk |
Pathogenic |
Xeroderma pigmentosum, group C |
| RS121965090 |
XPC
|
Health Risk |
Conflicting classifications of pathogenicity |
Xeroderma pigmentosum, group C |
| RS1219651327 |
CACNA1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Episodic ataxia type 2, Developmental and epileptic encephalopathy |
| RS1219664039 |
DUOX2
|
Health Risk |
Likely pathogenic |
— |
| RS1219696128 |
DNMT3B
|
Health Risk |
Likely pathogenic |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1 |
| RS1219697193 |
MED13L
|
Health Risk |
Pathogenic |
— |
| RS1219700070 |
TCAP
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS1219715328 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1219724284 |
SLC26A4
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome |
| RS1219725395 |
STXBP1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 4 |
| RS1219753329 |
OPA1
|
Health Risk |
Pathogenic |
Abortive cerebellar ataxia, Optic atrophy with or without deafness |
| RS1219762677 |
SURF1
|
Health Risk |
Pathogenic |
Leigh syndrome, Charcot-Marie-Tooth disease type 4K |
| RS1219807707 |
EVC
|
Health Risk |
Conflicting classifications of pathogenicity |
Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1219818351 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy 4, Cardiomyopathy |
| RS1219837301 |
MICAL1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1219849128 |
TBX1
|
Health Risk |
Conflicting classifications of pathogenicity |
DiGeorge syndrome, DiGeorge syndrome |