| RS1576745248 |
GFM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS1576745252 |
GATA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML |
| RS1576745256 |
GATA2
|
Health Risk |
Likely pathogenic |
Deafness-lymphedema-leukemia syndrome, Deafness-lymphedema-leukemia syndrome |
| RS1576745260 |
GATA2
|
Health Risk |
Likely pathogenic |
Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML |
| RS1576745270 |
GATA2
|
Health Risk |
Pathogenic/Likely pathogenic |
GATA2 deficiency with susceptibility to MDS/AML, Deafness-lymphedema-leukemia syndrome |
| RS1576745308 |
GATA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML |
| RS1576745322 |
GATA2
|
Health Risk |
Pathogenic |
Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML |
| RS1576745536 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1576746830 |
GATA2
|
Health Risk |
Pathogenic |
Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML |
| RS1576746847 |
GATA2
|
Health Risk |
Pathogenic |
Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome |
| RS1576746848 |
GATA2
|
Health Risk |
Likely pathogenic |
— |
| RS1576746862 |
GATA2
|
Health Risk |
Pathogenic |
Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome |
| RS1576746931 |
GATA2
|
Health Risk |
Likely pathogenic |
— |
| RS1576748357 |
GATA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1576748366 |
GATA2
|
Health Risk |
Pathogenic |
Monocytopenia with susceptibility to infections, Monocytopenia with susceptibility to infections |
| RS1576748378 |
GATA2
|
Health Risk |
Pathogenic |
Deafness-lymphedema-leukemia syndrome, Deafness-lymphedema-leukemia syndrome |
| RS1576748582 |
GATA2
|
Health Risk |
Likely pathogenic |
— |
| RS1576748609 |
GATA2
|
Health Risk |
Likely pathogenic |
— |
| RS1576748638 |
GATA2
|
Health Risk |
Pathogenic |
Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML |
| RS1576748738 |
GATA2
|
Health Risk |
Pathogenic |
Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML |
| RS1576749014 |
GATA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Myelodysplastic syndrome, Myelodysplastic syndrome |
| RS1576749168 |
GATA2
|
Health Risk |
Pathogenic |
Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML |
| RS1576749301 |
GATA2
|
Health Risk |
Pathogenic |
Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML |
| RS1576757241 |
GFM1
|
Health Risk |
Pathogenic |
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS1576759850 |
CP
|
Health Risk |
Pathogenic |
Deficiency of ferroxidase, Deficiency of ferroxidase |
| RS1576812577 |
COL4A4
|
Health Risk |
Pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS1576819152 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1576838294 |
SLC2A2
|
Health Risk |
Pathogenic |
Fanconi-Bickel syndrome, Fanconi-Bickel syndrome |
| RS1576854561 |
CASR
|
Health Risk |
Pathogenic |
Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1 |
| RS1576857818 |
CASR
|
Health Risk |
Likely pathogenic |
Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia |
| RS1576857840 |
CASR
|
Health Risk |
Likely pathogenic |
Familial hypocalciuric hypercalcemia 1, Familial hypocalciuric hypercalcemia 1 |
| RS1576858604 |
CASR
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia |
| RS1576859083 |
CASR
|
Health Risk |
Pathogenic |
Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia |
| RS1576859379 |
CASR
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1 |
| RS1576875819 |
CASR
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1 |
| RS1576875835 |
CASR
|
Health Risk |
Likely pathogenic |
Familial hypocalciuric hypercalcemia 1, Autosomal dominant hypocalcemia 1 |
| RS1576875919 |
CASR
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS1576877163 |
CASR
|
Health Risk |
Likely pathogenic |
— |
| RS1576877427 |
CASR
|
Health Risk |
Pathogenic |
— |
| RS1576877587 |
CASR
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia |
| RS1576878011 |
CASR
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1 |
| RS1576932506 |
PIK3CA
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS1576935161 |
PIK3CA
|
Health Risk |
Pathogenic/Likely pathogenic |
Megalencephaly-capillary malformation-polymicrogyria syndrome, PIK3CA related overgrowth syndrome |
| RS1576940155 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1576941580 |
CCDC39
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 14 |
| RS1576947658 |
PIK3CA
|
Health Risk |
Likely pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS1576949430 |
BAZ2B
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1576956162 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1576976863 |
ATP2C1
|
Health Risk |
Pathogenic |
— |
| RS1576978878 |
TBL1XR1
|
Health Risk |
Pathogenic |
— |
| RS1576982808 |
TBL1XR1
|
Health Risk |
Pathogenic/Likely pathogenic |
Pierpont syndrome, Pierpont syndrome |
| RS1576983339 |
PIGG
|
Health Risk |
Likely pathogenic |
Seizure, Intellectual disability |
| RS1576984787 |
PIGG
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal recessive 53 |
| RS1576993654 |
TBL1XR1
|
Health Risk |
Likely pathogenic |
Pierpont syndrome, Pierpont syndrome |
| RS1576993734 |
TBL1XR1
|
Health Risk |
Likely pathogenic |
Pierpont syndrome, Pierpont syndrome |
| RS1576994053 |
TBL1XR1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 41 |
| RS1576994101 |
TBL1XR1
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, autosomal dominant 41 |
| RS1577005203 |
MECOM
|
Health Risk |
Likely pathogenic |
Thrombocytopenia, Thrombocytopenia |
| RS1577005361 |
FXR1
|
Health Risk |
Pathogenic |
Myopathy, congenital |
| RS1577017863 |
TBL1XR1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 41 |
| RS1577018466 |
TBL1XR1
|
Health Risk |
Likely pathogenic |
Pierpont syndrome, Pierpont syndrome |
| RS1577029136 |
TBL1XR1
|
Health Risk |
Pathogenic |
Pierpont syndrome, Pierpont syndrome |
| RS1577029680 |
TBL1XR1
|
Health Risk |
Pathogenic/Likely pathogenic |
Pierpont syndrome, Pierpont syndrome |
| RS1577029823 |
EIF2B5
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS1577033077 |
PIK3CB
|
Health Risk |
Likely pathogenic |
NK-cell enteropathy, NK-cell enteropathy |
| RS1577052471 |
DVL3
|
Health Risk |
Pathogenic |
Autosomal dominant Robinow syndrome 3, Autosomal dominant Robinow syndrome 3 |
| RS1577052755 |
DVL3
|
Health Risk |
Pathogenic |
— |
| RS1577052785 |
DVL3
|
Health Risk |
Pathogenic |
Autosomal dominant Robinow syndrome 3, Autosomal dominant Robinow syndrome 3 |
| RS1577059692 |
AP2M1
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual developmental disorder 60 with seizures, Inborn genetic diseases |
| RS1577093161 |
EVC2
|
Health Risk |
Pathogenic |
Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1577093203 |
EVC2
|
Health Risk |
Pathogenic |
— |
| RS1577093258 |
EVC2
|
Health Risk |
Pathogenic |
Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1577094794 |
PIGG
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal recessive 53 |
| RS1577095404 |
PIGG
|
Health Risk |
Pathogenic |
— |
| RS1577095782 |
EVC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1577105039 |
ALG3
|
Health Risk |
Likely pathogenic |
— |
| RS1577134819 |
TTN
|
Health Risk |
Likely pathogenic |
— |
| RS1577147850 |
TP63
|
Health Risk |
Likely pathogenic |
— |
| RS1577153029 |
DOK7
|
Health Risk |
Likely pathogenic |
Congenital myasthenic syndrome 10, Congenital myasthenic syndrome 10 |
| RS1577153124 |
DOK7
|
Health Risk |
Pathogenic |
Congenital myasthenic syndrome 10, Congenital myasthenic syndrome 10 |
| RS1577162868 |
OPA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Optic atrophy with or without deafness, ophthalmoplegia |
| RS1577170055 |
EVC2
|
Health Risk |
Pathogenic/Likely pathogenic |
Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1577184455 |
DOK7
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital myasthenic syndrome, Congenital myasthenic syndrome 10 |
| RS1577184852 |
QDPR
|
Health Risk |
Likely pathogenic |
Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS1577191558 |
QDPR
|
Health Risk |
Pathogenic |
Dihydropteridine reductase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS1577194652 |
EVC2
|
Health Risk |
Likely pathogenic |
Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1577195893 |
TP63
|
Health Risk |
Pathogenic |
Ectrodactyly, ectodermal dysplasia |
| RS1577195951 |
QDPR
|
Health Risk |
Pathogenic |
Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS1577206350 |
TP63
|
Health Risk |
Pathogenic |
TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders |
| RS1577213466 |
TP63
|
Health Risk |
Pathogenic |
Rapp-Hodgkin syndrome, Rapp-Hodgkin syndrome |
| RS1577226484 |
OPA1
|
Health Risk |
Pathogenic |
— |
| RS1577228080 |
OPA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant optic atrophy classic form, Neurodevelopmental disorder |
| RS1577242473 |
OPA1
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS1577243012 |
OPA1
|
Health Risk |
Likely pathogenic |
Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form |
| RS1577244250 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1577244261 |
OPA1
|
Health Risk |
Pathogenic |
Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form |
| RS1577253441 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1577253760 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1577254356 |
P3H2
|
Health Risk |
Likely pathogenic |
Melanoma, Melanoma |
| RS1577276144 |
MCCC1
|
Health Risk |
Pathogenic |
3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |