| RS2512514781 |
MAN2B1
|
Health Risk |
Pathogenic |
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512514928 |
MAN2B1
|
Health Risk |
Pathogenic |
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512514945 |
MAN2B1
|
Health Risk |
Pathogenic |
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512514994 |
MAN2B1
|
Health Risk |
Conflicting classifications of pathogenicity |
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512515046 |
MAN2B1
|
Health Risk |
Likely pathogenic |
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512515058 |
MAN2B1
|
Health Risk |
Likely pathogenic |
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512515060 |
MAN2B1
|
Health Risk |
Likely pathogenic |
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512515665 |
CACNA1A
|
Health Risk |
Pathogenic |
Episodic ataxia type 2, Developmental and epileptic encephalopathy |
| RS2512516189 |
MAN2B1
|
Health Risk |
Likely pathogenic |
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512516231 |
MAN2B1
|
Health Risk |
Pathogenic |
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512516429 |
MAN2B1
|
Health Risk |
Pathogenic |
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512516719 |
MAN2B1
|
Health Risk |
Likely pathogenic |
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512516984 |
CACNA1A
|
Health Risk |
Pathogenic |
Episodic ataxia type 2, Developmental and epileptic encephalopathy |
| RS2512517362 |
MAN2B1
|
Health Risk |
Likely pathogenic |
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512517592 |
MAN2B1
|
Health Risk |
Likely pathogenic |
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512517709 |
MAN2B1
|
Health Risk |
Likely pathogenic |
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512519713 |
INSR
|
Health Risk |
Likely pathogenic |
INSR-related disorder, INSR-related disorder |
| RS2512519922 |
MAN2B1
|
Health Risk |
Pathogenic |
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512519945 |
INSR
|
Health Risk |
Pathogenic |
— |
| RS2512519985 |
MAN2B1
|
Health Risk |
Pathogenic |
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512520038 |
MAN2B1
|
Health Risk |
Likely pathogenic |
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512520111 |
CACNA1A
|
Health Risk |
Pathogenic |
Episodic ataxia type 2, Developmental and epileptic encephalopathy |
| RS2512520498 |
CACNA1A
|
Health Risk |
Pathogenic |
Episodic ataxia type 2, Developmental and epileptic encephalopathy |
| RS2512520749 |
CACNA1A
|
Health Risk |
Pathogenic |
Episodic ataxia type 2, Developmental and epileptic encephalopathy |
| RS2512521156 |
CACNA1A
|
Health Risk |
Pathogenic |
— |
| RS2512523412 |
MAST1
|
Health Risk |
Likely pathogenic |
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations |
| RS2512526008 |
TYK2
|
Health Risk |
Pathogenic |
Immunodeficiency 35, Immunodeficiency 35 |
| RS2512526900 |
MAST1
|
Health Risk |
Pathogenic/Likely pathogenic |
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations |
| RS2512531898 |
MAST1
|
Health Risk |
Likely pathogenic |
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations |
| RS2512532339 |
PNPLA6
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39 |
| RS2512534151 |
CACNA1A
|
Health Risk |
Pathogenic |
Episodic ataxia type 2, Developmental and epileptic encephalopathy |
| RS2512534808 |
PNPLA6
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39 |
| RS2512535653 |
CACNA1A
|
Health Risk |
Pathogenic |
— |
| RS2512536694 |
MAST1
|
Health Risk |
Likely pathogenic |
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations |
| RS2512536891 |
BPTF
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2512537089 |
KDM4B
|
Health Risk |
Likely pathogenic |
Intellectual developmental disorder, autosomal dominant 65 |
| RS2512537287 |
CACNA1A
|
Health Risk |
Pathogenic |
Episodic ataxia type 2, Developmental and epileptic encephalopathy |
| RS2512537311 |
PNPLA6
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39 |
| RS2512539283 |
PNPLA6
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39 |
| RS2512543709 |
CACNA1A
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2512543726 |
BPTF
|
Health Risk |
Pathogenic |
— |
| RS2512544189 |
PRKCSH
|
Health Risk |
Pathogenic |
— |
| RS2512544777 |
MAST1
|
Health Risk |
Likely pathogenic |
— |
| RS2512544978 |
CACNA1A
|
Health Risk |
Likely pathogenic |
CACNA1A-related disorder, CACNA1A-related disorder |
| RS2512545072 |
CAMK2D
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2512546825 |
DHPS
|
Health Risk |
Likely pathogenic |
— |
| RS2512550226 |
PNPLA6
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39 |
| RS2512551179 |
APC2
|
Health Risk |
Likely pathogenic |
— |
| RS2512551491 |
TYK2
|
Health Risk |
Pathogenic |
Immunodeficiency 35, Immunodeficiency 35 |
| RS2512551876 |
PNPLA6
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39 |
| RS2512552454 |
PNPLA6
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39 |
| RS2512555640 |
KLF1
|
Health Risk |
Pathogenic |
— |
| RS2512556114 |
BRD4
|
Health Risk |
Likely pathogenic |
— |
| RS2512556946 |
BRD4
|
Health Risk |
Pathogenic |
— |
| RS2512557187 |
INSR
|
Health Risk |
Pathogenic |
— |
| RS2512557956 |
KLF1
|
Health Risk |
Likely pathogenic |
— |
| RS2512563404 |
GCDH
|
Health Risk |
Likely pathogenic |
Glutaric aciduria, type 1 |
| RS2512563544 |
GCDH
|
Health Risk |
Likely pathogenic |
Glutaric aciduria, type 1 |
| RS2512563894 |
GCDH
|
Health Risk |
Pathogenic |
Glutaric aciduria, type 1 |
| RS2512563918 |
GCDH
|
Health Risk |
Pathogenic |
Glutaric aciduria, type 1 |
| RS2512564831 |
GCDH
|
Health Risk |
Likely pathogenic |
Glutaric aciduria, type 1 |
| RS2512564904 |
GCDH
|
Health Risk |
Likely pathogenic |
Glutaric aciduria, type 1 |
| RS2512564970 |
GCDH
|
Health Risk |
Likely pathogenic |
Glutaric aciduria, type 1 |
| RS2512565152 |
GCDH
|
Health Risk |
Pathogenic |
Glutaric aciduria, type 1 |
| RS2512565797 |
GCDH
|
Health Risk |
Likely pathogenic |
Glutaric aciduria, type 1 |
| RS2512567446 |
TYK2
|
Health Risk |
Likely pathogenic |
Immunodeficiency 35, Immunodeficiency 35 |
| RS2512567782 |
GCDH
|
Health Risk |
Pathogenic/Likely pathogenic |
Glutaric aciduria, type 1 |
| RS2512567826 |
GCDH
|
Health Risk |
Pathogenic |
Glutaric aciduria, type 1 |
| RS2512567938 |
GCDH
|
Health Risk |
Likely pathogenic |
Glutaric aciduria, type 1 |
| RS2512568075 |
GCDH
|
Health Risk |
Pathogenic |
Glutaric aciduria, type 1 |
| RS2512568101 |
GCDH
|
Health Risk |
Pathogenic/Likely pathogenic |
Glutaric aciduria, type 1 |
| RS2512570397 |
PNPLA6
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39 |
| RS2512571434 |
KDM4B
|
Health Risk |
Likely pathogenic |
Intellectual developmental disorder, autosomal dominant 65 |
| RS2512571489 |
ADAMTS10
|
Health Risk |
Pathogenic |
— |
| RS2512571628 |
KDM4B
|
Health Risk |
Likely pathogenic |
Intellectual developmental disorder, autosomal dominant 65 |
| RS2512571754 |
PNPLA6
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39 |
| RS2512572719 |
GCDH
|
Health Risk |
Pathogenic |
Glutaric aciduria, type 1 |
| RS2512572809 |
GCDH
|
Health Risk |
Likely pathogenic |
Glutaric aciduria, type 1 |
| RS2512572818 |
GCDH
|
Health Risk |
Pathogenic |
Glutaric aciduria, type 1 |
| RS2512572865 |
GCDH
|
Health Risk |
Likely pathogenic |
Glutaric aciduria, type 1 |
| RS2512573326 |
GCDH
|
Health Risk |
Pathogenic/Likely pathogenic |
Glutaric aciduria, type 1 |
| RS2512573353 |
GCDH
|
Health Risk |
Likely pathogenic |
Glutaric aciduria, type 1 |
| RS2512573365 |
GCDH
|
Health Risk |
Likely pathogenic |
Glutaric aciduria, type 1 |
| RS2512573372 |
GCDH
|
Health Risk |
Likely pathogenic |
Glutaric aciduria, type 1 |
| RS2512573503 |
GCDH
|
Health Risk |
Pathogenic |
Glutaric aciduria, type 1 |
| RS2512573580 |
GCDH
|
Health Risk |
Pathogenic |
Glutaric aciduria, type 1 |
| RS2512573674 |
GCDH
|
Health Risk |
Likely pathogenic |
Glutaric aciduria, type 1 |
| RS2512574792 |
GCDH
|
Health Risk |
Likely pathogenic |
Glutaric aciduria, type 1 |
| RS2512574850 |
GCDH
|
Health Risk |
Likely pathogenic |
Glutaric aciduria, type 1 |
| RS2512574882 |
GCDH
|
Health Risk |
Pathogenic |
Glutaric aciduria, type 1 |
| RS2512574982 |
GCDH
|
Health Risk |
Pathogenic |
Glutaric aciduria, type 1 |
| RS2512575769 |
ADAMTS10
|
Health Risk |
Likely pathogenic |
Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1 |
| RS2512576016 |
GCDH
|
Health Risk |
Pathogenic |
Glutaric aciduria, type 1 |
| RS2512576260 |
GCDH
|
Health Risk |
Likely pathogenic |
Glutaric aciduria, type 1 |
| RS2512577314 |
GCDH
|
Health Risk |
Likely pathogenic |
Glutaric aciduria, type 1 |
| RS2512577344 |
GCDH
|
Health Risk |
Pathogenic |
Glutaric aciduria, type 1 |
| RS2512577406 |
GCDH
|
Health Risk |
Pathogenic |
Glutaric aciduria, type 1 |
| RS2512577630 |
GCDH
|
Health Risk |
Likely pathogenic |
Glutaric aciduria, type 1 |
| RS2512577655 |
GCDH
|
Health Risk |
Pathogenic/Likely pathogenic |
Glutaric aciduria, type 1 |
| RS2512577720 |
GCDH
|
Health Risk |
Pathogenic |
Glutaric aciduria, type 1 |