| RS2542571638 |
BUB1B
|
Health Risk |
Conflicting classifications of pathogenicity |
Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases |
| RS2542572987 |
FAN1
|
Health Risk |
Pathogenic |
— |
| RS2542581249 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542581414 |
HEXA
|
Health Risk |
Likely pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542581524 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542582180 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542582204 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542582237 |
HEXA
|
Health Risk |
Likely pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542582814 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542587632 |
BUB1B
|
Health Risk |
Pathogenic |
Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1 |
| RS2542597073 |
DICER1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS2542598499 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542600568 |
DICER1
|
Health Risk |
Likely pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542603102 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542603366 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542603877 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542611773 |
SIN3A
|
Health Risk |
Likely pathogenic |
— |
| RS2542618992 |
IVD
|
Health Risk |
Likely pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS2542619877 |
TRAF3
|
Health Risk |
Pathogenic |
Herpes simplex encephalitis, susceptibility to |
| RS2542620925 |
IVD
|
Health Risk |
Pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS2542625853 |
ATP8A2
|
Health Risk |
Likely pathogenic |
— |
| RS2542629795 |
SIN3A
|
Health Risk |
Pathogenic |
SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related intellectual disability syndrome due to a point mutation |
| RS2542629940 |
SIN3A
|
Health Risk |
Pathogenic |
— |
| RS2542634545 |
TRAF3
|
Health Risk |
Pathogenic |
TRAF3 haploinsufficiency, TRAF3 haploinsufficiency |
| RS2542636119 |
CEP164
|
Health Risk |
Pathogenic |
Nephronophthisis 15, Nephronophthisis 15 |
| RS2542636329 |
TGM5
|
Health Risk |
Likely pathogenic |
Acral peeling skin syndrome, Acral peeling skin syndrome |
| RS2542638801 |
SIN3A
|
Health Risk |
Likely pathogenic |
SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related intellectual disability syndrome due to a point mutation |
| RS2542638826 |
SIN3A
|
Health Risk |
Pathogenic |
— |
| RS2542638910 |
SIN3A
|
Health Risk |
Pathogenic |
— |
| RS2542648975 |
IVD
|
Health Risk |
Pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS2542649345 |
IVD
|
Health Risk |
Pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS2542649437 |
IVD
|
Health Risk |
Conflicting classifications of pathogenicity |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS2542649462 |
IVD
|
Health Risk |
Likely pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS2542649798 |
IVD
|
Health Risk |
Likely pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS2542649911 |
IVD
|
Health Risk |
Pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS2542650079 |
IVD
|
Health Risk |
Pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS2542656408 |
RORA
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2542660907 |
SPRED1
|
Health Risk |
Pathogenic |
Legius syndrome, Legius syndrome |
| RS2542664835 |
FAN1
|
Health Risk |
Pathogenic |
— |
| RS2542665267 |
SIN3A
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2542669402 |
C12orf57
|
Health Risk |
Pathogenic |
Temtamy syndrome, Temtamy syndrome |
| RS2542670199 |
C12orf57
|
Health Risk |
Pathogenic |
Temtamy syndrome, Temtamy syndrome |
| RS2542679317 |
IVD
|
Health Risk |
Pathogenic |
IVD-related disorder, IVD-related disorder |
| RS2542679335 |
IVD
|
Health Risk |
Likely pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS2542681353 |
IVD
|
Health Risk |
Likely pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS2542681599 |
SIN3A
|
Health Risk |
Pathogenic |
— |
| RS2542682219 |
SIN3A
|
Health Risk |
Pathogenic |
SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related intellectual disability syndrome due to a point mutation |
| RS2542683167 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542685013 |
AMN
|
Health Risk |
Pathogenic |
Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome |
| RS2542685031 |
AMN
|
Health Risk |
Pathogenic |
Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome |
| RS2542685293 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542685848 |
AMN
|
Health Risk |
Pathogenic |
Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome |
| RS2542686004 |
AMN
|
Health Risk |
Likely pathogenic |
Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome |
| RS2542688974 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS2542689542 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542689886 |
SIN3A
|
Health Risk |
Pathogenic |
— |
| RS2542690105 |
SIN3A
|
Health Risk |
Pathogenic |
SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related intellectual disability syndrome due to a point mutation |
| RS2542690534 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS2542690750 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542691558 |
IVD
|
Health Risk |
Likely pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS2542692569 |
DICER1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2542693297 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542694975 |
AMN
|
Health Risk |
Likely pathogenic |
Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 2 |
| RS2542695569 |
AMN
|
Health Risk |
Pathogenic |
Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome |
| RS2542695614 |
CEP164
|
Health Risk |
Pathogenic |
Nephronophthisis 15, Nephronophthisis 15 |
| RS2542695619 |
DICER1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2542695643 |
SPRED1
|
Health Risk |
Pathogenic |
Legius syndrome, Legius syndrome |
| RS2542695865 |
SPRED1
|
Health Risk |
Pathogenic |
Legius syndrome, Legius syndrome |
| RS2542695902 |
SPRED1
|
Health Risk |
Pathogenic |
Legius syndrome, Legius syndrome |
| RS2542695969 |
AMN
|
Health Risk |
Pathogenic |
Imerslund-Grasbeck syndrome type 2, Imerslund-Grasbeck syndrome type 2 |
| RS2542696243 |
IVD
|
Health Risk |
Likely pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS2542696391 |
IVD
|
Health Risk |
Pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS2542696581 |
AMN
|
Health Risk |
Pathogenic |
Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome |
| RS2542696599 |
AMN
|
Health Risk |
Pathogenic |
Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome |
| RS2542696792 |
AMN
|
Health Risk |
Pathogenic |
Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome |
| RS2542697169 |
AMN
|
Health Risk |
Likely pathogenic |
Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome |
| RS2542697378 |
IVD
|
Health Risk |
Likely pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS2542697546 |
IVD
|
Health Risk |
Likely pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS2542698265 |
IVD
|
Health Risk |
Pathogenic/Likely pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS2542698306 |
IVD
|
Health Risk |
Pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS2542698384 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542698629 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542700246 |
AMN
|
Health Risk |
Pathogenic |
Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome |
| RS2542700259 |
SPRED1
|
Health Risk |
Pathogenic |
Legius syndrome, Legius syndrome |
| RS2542700396 |
SPRED1
|
Health Risk |
Likely pathogenic |
Legius syndrome, Legius syndrome |
| RS2542701033 |
SIN3A
|
Health Risk |
Likely pathogenic |
SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related intellectual disability syndrome due to a point mutation |
| RS2542701336 |
DICER1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2542701625 |
AMN
|
Health Risk |
Pathogenic |
Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome |
| RS2542704409 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542705456 |
DICER1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS2542705609 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542707708 |
DICER1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2542707852 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542708046 |
SIN3A
|
Health Risk |
Likely pathogenic |
— |
| RS2542708086 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542709383 |
DICER1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2542709920 |
DICER1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2542713682 |
IVD
|
Health Risk |
Likely pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS2542714217 |
IVD
|
Health Risk |
Likely pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS2542714477 |
IVD
|
Health Risk |
Pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |