| RS2542474503 |
DYNC2I2
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS2542474575 |
SACS
|
Health Risk |
Likely pathogenic |
Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS2542474905 |
SACS
|
Health Risk |
Likely pathogenic |
Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS2542475308 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542475809 |
DICER1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS2542476473 |
EPB42
|
Health Risk |
Pathogenic |
— |
| RS2542478461 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542478659 |
DICER1
|
Health Risk |
Likely pathogenic |
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome |
| RS2542478972 |
DICER1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2542479940 |
DICER1
|
Health Risk |
Pathogenic |
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome |
| RS2542480045 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542480067 |
DICER1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2542480965 |
DICER1
|
Health Risk |
Likely pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542483570 |
DICER1
|
Health Risk |
Likely pathogenic |
Pleuropulmonary blastoma, Euthyroid goiter |
| RS2542483597 |
DICER1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2542484985 |
DICER1
|
Health Risk |
Likely pathogenic |
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome |
| RS2542485254 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542485412 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542485459 |
FGF9
|
Health Risk |
Likely pathogenic |
Multiple synostoses syndrome 3, Multiple synostoses syndrome 3 |
| RS2542485705 |
DICER1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2542486252 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542486879 |
CYP19A1
|
Health Risk |
Pathogenic |
— |
| RS2542488809 |
DICER1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2542489725 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS2542492765 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542493021 |
DICER1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2542494913 |
DICER1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS2542499808 |
MAPKAPK5
|
Health Risk |
Pathogenic |
Neurocardiofaciodigital syndrome, Neurocardiofaciodigital syndrome |
| RS2542501436 |
SACS
|
Health Risk |
Likely pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2542502077 |
SACS
|
Health Risk |
Likely pathogenic |
Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS2542504851 |
SACS
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2542504933 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542505067 |
SACS
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2542505295 |
SACS
|
Health Risk |
Likely pathogenic |
Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS2542505621 |
HEXA
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2542505639 |
SACS
|
Health Risk |
Likely pathogenic |
Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS2542505703 |
SACS
|
Health Risk |
Pathogenic/Likely pathogenic |
Spastic paraplegia, Charlevoix-Saguenay spastic ataxia |
| RS2542505710 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542505809 |
SACS
|
Health Risk |
Likely pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2542507892 |
DICER1
|
Health Risk |
Pathogenic/Likely pathogenic |
DICER1-related tumor predisposition, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome |
| RS2542508482 |
BUB1B
|
Health Risk |
Likely pathogenic |
Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1 |
| RS2542508580 |
BUB1B
|
Health Risk |
Pathogenic |
Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1 |
| RS2542508752 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542509635 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542510037 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542511852 |
FGF9
|
Health Risk |
Likely pathogenic |
Multiple synostoses syndrome 3, Multiple synostoses syndrome 3 |
| RS2542512303 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542512766 |
HEXA
|
Health Risk |
Pathogenic |
GM2-ganglioside accumulation, GM2-ganglioside accumulation |
| RS2542512849 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542512987 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542514045 |
HEXA
|
Health Risk |
Likely pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542514054 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542514275 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542514324 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542514845 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542516819 |
BUB1B
|
Health Risk |
Pathogenic |
Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1 |
| RS2542518955 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542520312 |
HEXA
|
Health Risk |
Likely pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542520322 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542520335 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542520432 |
HEXA
|
Health Risk |
Likely pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542520435 |
HEXA
|
Health Risk |
Likely pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542520518 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542520561 |
HEXA
|
Health Risk |
Likely pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542520592 |
HEXA
|
Health Risk |
Conflicting classifications of pathogenicity |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542522525 |
HEXA
|
Health Risk |
Pathogenic |
— |
| RS2542522531 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542522575 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542522978 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542523032 |
HEXA
|
Health Risk |
Likely pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542523070 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542523123 |
HEXA
|
Health Risk |
Likely pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542523154 |
HEXA
|
Health Risk |
Likely pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542526228 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542526272 |
HEXA
|
Health Risk |
Likely pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542526303 |
HEXA
|
Health Risk |
Conflicting classifications of pathogenicity |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542526335 |
HEXA
|
Health Risk |
Likely pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542528224 |
HEXA
|
Health Risk |
Likely pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542532585 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542532770 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542533195 |
MAPKAPK5
|
Health Risk |
Pathogenic |
Neurocardiofaciodigital syndrome, Neurocardiofaciodigital syndrome |
| RS2542534160 |
HEXA
|
Health Risk |
Likely pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542534202 |
HEXA
|
Health Risk |
Likely pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542535564 |
BUB1B
|
Health Risk |
Pathogenic |
Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1 |
| RS2542537779 |
HEXA
|
Health Risk |
Likely pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542537853 |
LEO1
|
Health Risk |
Likely pathogenic |
Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS2542537863 |
HEXA
|
Health Risk |
Likely pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542540049 |
HEXA
|
Health Risk |
Likely pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542540160 |
HEXA
|
Health Risk |
Likely pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS2542541193 |
DLL4
|
Health Risk |
Likely pathogenic |
Adams-Oliver syndrome 6, Adams-Oliver syndrome 6 |
| RS2542541573 |
DLL4
|
Health Risk |
Likely pathogenic |
Adams-Oliver syndrome 6, Adams-Oliver syndrome 6 |
| RS2542542566 |
DLL4
|
Health Risk |
Pathogenic |
— |
| RS2542548141 |
DLL4
|
Health Risk |
Pathogenic |
— |
| RS2542549210 |
DLL4
|
Health Risk |
Likely pathogenic |
Adams-Oliver syndrome 6, Adams-Oliver syndrome 6 |
| RS2542550424 |
BUB1B
|
Health Risk |
Pathogenic |
Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1 |
| RS2542554755 |
BUB1B
|
Health Risk |
Pathogenic |
Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1 |
| RS2542554796 |
BUB1B
|
Health Risk |
Pathogenic |
Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1 |
| RS2542554942 |
BUB1B
|
Health Risk |
Likely pathogenic |
Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1 |
| RS2542555071 |
BUB1B
|
Health Risk |
Likely pathogenic |
Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1 |
| RS2542556120 |
BUB1B
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1 |