| RS1877018344 |
DZIP1
|
Health Risk |
Pathogenic |
Spermatogenic failure 47, Spermatogenic failure 47 |
| RS1877023557 |
SETD1B
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS1877025777 |
SETD1B
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1877026008 |
SETD1B
|
Health Risk |
Pathogenic/Likely pathogenic |
SETD1B-associated disorder, SETD1B-associated disorder |
| RS1877026127 |
SETD1B
|
Health Risk |
Likely pathogenic |
Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS187703540 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS187705120 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4 |
| RS187705792 |
PAX6
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant keratitis, Foveal hypoplasia 1 |
| RS1877065693 |
RDH5
|
Health Risk |
Pathogenic |
— |
| RS1877067186 |
COL4A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinal arterial tortuosity, Brain small vessel disease 1 with or without ocular anomalies |
| RS1877096238 |
HNF1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS187710792 |
PHKG2
|
Health Risk |
Conflicting classifications of pathogenicity |
Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS1877113317 |
HNF1A
|
Health Risk |
Likely pathogenic |
Diabetes mellitus, Maturity-onset diabetes of the young |
| RS1877116749 |
HNF1A
|
Health Risk |
Likely pathogenic |
Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young type 3 |
| RS1877124452 |
HNF1A
|
Health Risk |
Conflicting classifications of pathogenicity |
6 conditions, 6 conditions |
| RS187714514 |
DDX41
|
Health Risk |
Conflicting classifications of pathogenicity |
DDX41-related hematologic malignancy predisposition syndrome, DDX41-related disorder |
| RS187715637 |
CDK5RAP2
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 3, primary |
| RS1877168655 |
HNF1A
|
Health Risk |
Likely pathogenic |
Diabetes mellitus, Maturity-onset diabetes of the young |
| RS1877175078 |
HNF1A
|
Health Risk |
Pathogenic |
Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young |
| RS1877180449 |
HNF1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS1877185960 |
COL4A1
|
Health Risk |
Likely pathogenic |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS187720692 |
SH3TC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Susceptibility to mononeuropathy of the median nerve, mild |
| RS1877244252 |
FREM2
|
Health Risk |
Pathogenic |
Fraser syndrome 2, Fraser syndrome 2 |
| RS187724945 |
INPP5E
|
Health Risk |
Conflicting classifications of pathogenicity |
Joubert syndrome 1, Joubert syndrome |
| RS187725532 |
ERMARD
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS187725533 |
CREB3L1
|
Health Risk |
Conflicting classifications of pathogenicity |
Osteogenesis imperfecta type 16, CREB3L1-related disorder |
| RS1877266440 |
COL4A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Hemorrhage |
| RS1877270718 |
MED13L
|
Health Risk |
Pathogenic |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1877279397 |
MED13L
|
Health Risk |
Likely pathogenic |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS187728607 |
IFT172
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS1877293842 |
HNF1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young |
| RS1877301961 |
HNF1A
|
Health Risk |
Likely pathogenic |
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS1877309778 |
HNF1A
|
Health Risk |
Likely pathogenic |
Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young |
| RS187731029 |
SCN2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Seizures |
| RS187731832 |
NOTCH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS1877318758 |
HNF1A
|
Health Risk |
Pathogenic |
Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young type 3 |
| RS1877318918 |
HNF1A
|
Health Risk |
Uncertain significance/Uncertain risk allele |
Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young |
| RS1877319456 |
HNF1A
|
Health Risk |
Uncertain significance/Uncertain risk allele |
Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young |
| RS1877324101 |
HNF1A
|
Health Risk |
Pathogenic |
Monogenic diabetes, Maturity-onset diabetes of the young |
| RS1877331560 |
COL4A1
|
Health Risk |
Likely pathogenic |
— |
| RS187733403 |
ATP1A2
|
Health Risk |
Conflicting classifications of pathogenicity |
Alternating hemiplegia of childhood 1, Familial hemiplegic migraine |
| RS1877377994 |
FREM2
|
Health Risk |
Pathogenic |
— |
| RS1877384330 |
COL4A1
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS1877385413 |
COL4A1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS187740201 |
CEACAM16
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1877402552 |
ATP2A2
|
Health Risk |
Likely pathogenic |
— |
| RS1877403231 |
MED13L
|
Health Risk |
Pathogenic |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1877424058 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS1877425899 |
SMARCC2
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1877430029 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS1877432240 |
SMARCC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual disability, Coffin-Siris syndrome 8 |
| RS1877434368 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS1877437047 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS1877437661 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS1877438684 |
HNF1A
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1877439517 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS187744790 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome |
| RS1877448690 |
MED13L
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1877459454 |
MED13L
|
Health Risk |
Pathogenic |
— |
| RS1877471070 |
HNF1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young |
| RS1877476585 |
MED13L
|
Health Risk |
Pathogenic |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1877483762 |
HNF1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young |
| RS187751015 |
OTOG
|
Health Risk |
Conflicting classifications of pathogenicity |
OTOG-related disorder, Autosomal recessive nonsyndromic hearing loss 18B |
| RS1877518903 |
COL4A1
|
Health Risk |
Likely pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS187752783 |
CTNNA3
|
Health Risk |
Conflicting classifications of pathogenicity |
Arrhythmogenic right ventricular dysplasia 13, CTNNA3-related disorder |
| RS1877531485 |
MED13L
|
Health Risk |
Pathogenic |
Chromatinopathy, Chromatinopathy |
| RS1877535811 |
MED13L
|
Health Risk |
Pathogenic |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1877554115 |
STAT2
|
Health Risk |
Pathogenic |
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS1877619819 |
FREM2
|
Health Risk |
Pathogenic |
— |
| RS1877682848 |
MED13L
|
Health Risk |
Likely pathogenic |
— |
| RS1877685759 |
MED13L
|
Health Risk |
Pathogenic |
Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries |
| RS1877686983 |
MED13L
|
Health Risk |
Pathogenic |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS187769000 |
TRIM37
|
Health Risk |
Conflicting classifications of pathogenicity |
Mulibrey nanism syndrome, Mulibrey nanism syndrome |
| RS1877697992 |
MED13L
|
Health Risk |
Pathogenic |
Intellectual disability, Intellectual disability |
| RS1877698147 |
MED13L
|
Health Risk |
Pathogenic |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1877701802 |
COL4A1
|
Health Risk |
Likely pathogenic |
Microcephaly, Brain small vessel disease 1 with or without ocular anomalies |
| RS187774579 |
FLNA
|
Health Risk |
Conflicting classifications of pathogenicity |
Frontometaphyseal dysplasia, Heterotopia |
| RS1877748039 |
MED13L
|
Health Risk |
Pathogenic |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS187778306 |
BDP1
|
Health Risk |
Conflicting classifications of pathogenicity |
BDP1-related disorder, BDP1-related disorder |
| RS1877783774 |
COL4A1
|
Health Risk |
Pathogenic |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies |
| RS1877796592 |
COL4A1
|
Health Risk |
Likely pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS1877796698 |
COL4A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS1877801384 |
COL4A1
|
Health Risk |
Likely pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS1877827904 |
COL4A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies |
| RS1877832657 |
COL4A1
|
Health Risk |
Pathogenic |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS1877834934 |
COL4A1
|
Health Risk |
Likely pathogenic |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS187786356 |
FBN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital contractural arachnodactyly, Connective tissue disorder |
| RS1877889898 |
COL4A1
|
Health Risk |
Likely pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS187789045 |
MYH14
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A |
| RS1877904298 |
COL4A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Microangiopathy and leukoencephalopathy, pontine |
| RS1877915798 |
STAT2
|
Health Risk |
Pathogenic |
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS187792775 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Cardiomyopathy |
| RS187794371 |
GHRHR
|
Health Risk |
Conflicting classifications of pathogenicity |
Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB |
| RS1877962670 |
COL4A1
|
Health Risk |
Pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS1877963897 |
COL4A1
|
Health Risk |
Likely pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS1878012979 |
COL4A1
|
Health Risk |
Pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS1878013473 |
COL4A1
|
Health Risk |
Likely pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS187802155 |
CNGA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinitis pigmentosa, Retinitis pigmentosa |
| RS1878041974 |
COL4A1
|
Health Risk |
Likely pathogenic |
— |
| RS1878060112 |
MED13L
|
Health Risk |
Likely pathogenic |
— |