| RS1568224018 |
PIGN
|
Health Risk |
Likely pathogenic |
Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS1568227205 |
PIGN
|
Health Risk |
Likely pathogenic |
Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS1568227699 |
DOCK6
|
Health Risk |
Pathogenic |
— |
| RS1568229419 |
MIB1
|
Health Risk |
Likely pathogenic |
— |
| RS1568229677 |
C3
|
Health Risk |
Pathogenic |
Complement component 3 deficiency, Complement component 3 deficiency |
| RS1568234874 |
SETBP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 29 |
| RS1568235086 |
SETBP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 29 |
| RS1568235567 |
SETBP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 29 |
| RS1568244668 |
PIGN
|
Health Risk |
Pathogenic |
Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS1568244811 |
PIGN
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS1568246398 |
CCDC47
|
Health Risk |
Likely pathogenic |
Global developmental delay with dysmorphic features, liver dysfunction |
| RS1568261067 |
SMCHD1
|
Health Risk |
Pathogenic |
— |
| RS1568264929 |
DYM
|
Health Risk |
Pathogenic |
Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS1568268397 |
NFIX
|
Health Risk |
Pathogenic |
Marshall-Smith syndrome, Malan overgrowth syndrome |
| RS1568269273 |
NFIX
|
Health Risk |
Likely pathogenic |
15 conditions, 15 conditions |
| RS1568278651 |
GIPC3
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 15, Autosomal recessive nonsyndromic hearing loss 15 |
| RS1568293814 |
MICOS13
|
Health Risk |
Conflicting classifications of pathogenicity |
Mitochondrial hepato-encephalopathy, Combined oxidative phosphorylation deficiency 37 |
| RS1568293849 |
MICOS13
|
Health Risk |
Pathogenic |
Combined oxidative phosphorylation deficiency 37, Combined oxidative phosphorylation deficiency 37 |
| RS1568296260 |
COG1
|
Health Risk |
Pathogenic |
COG1 congenital disorder of glycosylation, Nephrotic syndrome |
| RS1568298983 |
COG1
|
Health Risk |
Pathogenic |
COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation |
| RS1568300632 |
MAN2B1
|
Health Risk |
Likely pathogenic |
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1568303086 |
TCF4
|
Health Risk |
Pathogenic |
Pitt-Hopkins syndrome, Inborn genetic diseases |
| RS1568303352 |
TCF4
|
Health Risk |
Pathogenic |
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1568305976 |
TCF4
|
Health Risk |
Pathogenic |
Pitt-Hopkins syndrome, Corneal dystrophy |
| RS1568307275 |
MAN2B1
|
Health Risk |
Pathogenic |
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1568317152 |
DHPS
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with seizures and speech and walking impairment, DHPS-related disorder |
| RS1568318540 |
NFIX
|
Health Risk |
Likely pathogenic |
Marshall-Smith syndrome, Marshall-Smith syndrome |
| RS1568318932 |
NFIX
|
Health Risk |
Likely pathogenic |
Marshall-Smith syndrome, Malan overgrowth syndrome |
| RS1568319747 |
DYM
|
Health Risk |
Pathogenic |
Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS1568326754 |
C19orf12
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurodegeneration with brain iron accumulation 4, Abnormal central motor function |
| RS1568327531 |
MAPT
|
Health Risk |
Pathogenic |
Frontotemporal dementia, Frontotemporal dementia |
| RS1568329461 |
TCF4
|
Health Risk |
Likely pathogenic |
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1568331766 |
TCF4
|
Health Risk |
Pathogenic |
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1568333687 |
TYK2
|
Health Risk |
Likely pathogenic |
Immunodeficiency 35, Immunodeficiency 35 |
| RS1568334868 |
WDR62
|
Health Risk |
Likely pathogenic |
Microcephaly 2, primary |
| RS1568336400 |
SMCHD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS1568339821 |
MAPT
|
Health Risk |
Conflicting classifications of pathogenicity |
Frontotemporal dementia, Frontotemporal dementia |
| RS1568339995 |
MAPT
|
Health Risk |
Likely pathogenic |
Alzheimer disease, Alzheimer disease |
| RS1568344751 |
UQCRFS1
|
Health Risk |
Pathogenic |
Propionic acidemia, Cardiomyopathy |
| RS1568346416 |
UQCRFS1
|
Health Risk |
Pathogenic |
Cardiomyopathy, Mitochondrial complex III deficiency |
| RS1568348369 |
KISS1R
|
Health Risk |
Pathogenic |
— |
| RS1568348569 |
SCN1B
|
Health Risk |
Pathogenic |
Brugada syndrome 5, Brugada syndrome 5 |
| RS1568349715 |
GET3
|
Health Risk |
Pathogenic |
Cardiomyopathy, dilated |
| RS1568350731 |
SMCHD1
|
Health Risk |
Pathogenic |
Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS1568357588 |
NOTCH3
|
Health Risk |
Likely pathogenic |
— |
| RS1568357749 |
CYP4F22
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5 |
| RS1568359346 |
NOTCH3
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS1568359734 |
ASXL3
|
Health Risk |
Pathogenic |
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS1568359816 |
ASXL3
|
Health Risk |
Pathogenic |
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS1568359887 |
ASXL3
|
Health Risk |
Pathogenic |
— |
| RS1568360069 |
TXNL4A
|
Health Risk |
Likely pathogenic |
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome |
| RS1568360142 |
NOTCH3
|
Health Risk |
Pathogenic |
— |
| RS1568360291 |
ASXL3
|
Health Risk |
Pathogenic |
— |
| RS1568360348 |
CYP4F22
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5 |
| RS1568360387 |
CYP4F22
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5 |
| RS1568360410 |
NOTCH3
|
Health Risk |
Pathogenic |
— |
| RS1568360455 |
NOTCH3
|
Health Risk |
Pathogenic |
— |
| RS1568360475 |
CYP4F22
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5 |
| RS1568360524 |
NOTCH3
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS1568360526 |
CYP4F22
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5 |
| RS1568360554 |
CYP4F22
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5 |
| RS1568361011 |
TRMT1
|
Health Risk |
Pathogenic |
Intellectual developmental disorder, autosomal recessive 68 |
| RS1568361250 |
CYP4F22
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5 |
| RS1568361404 |
NOTCH3
|
Health Risk |
Conflicting classifications of pathogenicity |
Cerebral arteriopathy, autosomal dominant |
| RS1568361608 |
NOTCH3
|
Health Risk |
Pathogenic |
Cerebral arteriopathy, autosomal dominant |
| RS1568361818 |
NOTCH3
|
Health Risk |
Pathogenic |
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy |
| RS1568361844 |
NOTCH3
|
Health Risk |
Pathogenic |
— |
| RS1568361851 |
NOTCH3
|
Health Risk |
Pathogenic |
NOTCH3-related disorder, NOTCH3-related disorder |
| RS1568361985 |
NOTCH3
|
Health Risk |
Pathogenic/Likely pathogenic |
Cerebral arteriopathy, autosomal dominant |
| RS1568362039 |
NOTCH3
|
Health Risk |
Likely pathogenic |
— |
| RS1568362232 |
NOTCH3
|
Health Risk |
Pathogenic |
— |
| RS1568362252 |
NOTCH3
|
Health Risk |
Pathogenic |
Stroke disorder, Stroke disorder |
| RS1568362605 |
CYP4F22
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5 |
| RS1568362644 |
CYP4F22
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5 |
| RS1568363980 |
NOTCH3
|
Health Risk |
Pathogenic |
— |
| RS1568364038 |
DCC
|
Health Risk |
Likely pathogenic |
— |
| RS1568364101 |
CYP4F22
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5 |
| RS1568364107 |
CYP4F22
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5 |
| RS1568364117 |
CYP4F22
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5 |
| RS1568365205 |
CYP4F22
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5 |
| RS1568365439 |
ASXL3
|
Health Risk |
Likely pathogenic |
— |
| RS1568366050 |
KANSL1
|
Health Risk |
Pathogenic |
Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS1568366397 |
ITGB4
|
Health Risk |
Pathogenic |
— |
| RS1568367127 |
KMT2B
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS1568369744 |
ASXL3
|
Health Risk |
Likely pathogenic |
— |
| RS1568374482 |
KMT2B
|
Health Risk |
Pathogenic |
Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS1568377563 |
KMT2B
|
Health Risk |
Conflicting classifications of pathogenicity |
Dystonia 28, childhood-onset |
| RS1568378665 |
PLVAP
|
Health Risk |
Pathogenic |
Diarrhea 10, protein-losing enteropathy type |
| RS1568379151 |
KMT2B
|
Health Risk |
Likely pathogenic |
Dystonia 28, childhood-onset |
| RS1568382485 |
KMT2B
|
Health Risk |
Pathogenic |
— |
| RS1568383298 |
ITGB4
|
Health Risk |
Pathogenic/Likely pathogenic |
Epidermolysis bullosa, junctional 5A |
| RS1568383758 |
BRD4
|
Health Risk |
Likely pathogenic |
Short stature, Short stature |
| RS1568383892 |
SMCHD1
|
Health Risk |
Likely pathogenic |
— |
| RS1568384928 |
KMT2B
|
Health Risk |
Likely pathogenic |
Dystonia 28, childhood-onset |
| RS1568385656 |
ITGB4
|
Health Risk |
Pathogenic |
— |
| RS1568395061 |
GALK1
|
Health Risk |
Pathogenic |
Deficiency of galactokinase, Deficiency of galactokinase |
| RS1568397939 |
MCOLN1
|
Health Risk |
Likely pathogenic |
Mucolipidosis type IV, Mucolipidosis type IV |
| RS1568398702 |
MCOLN1
|
Health Risk |
Pathogenic |
Mucolipidosis type IV, Mucolipidosis type IV |
| RS1568400897 |
JAK3
|
Health Risk |
Pathogenic |
T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS1568403627 |
PNPLA6
|
Health Risk |
Pathogenic |
Spastic ataxia, Spastic ataxia |