| RS2522289737 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522289755 |
ATP7A
|
Health Risk |
Likely pathogenic |
Menkes kinky-hair syndrome, Cutis laxa |
| RS2522289846 |
ATP7A
|
Health Risk |
Likely pathogenic |
Menkes kinky-hair syndrome, Cutis laxa |
| RS2522290057 |
ATP7A
|
Health Risk |
Pathogenic/Likely pathogenic |
Cutis laxa, X-linked |
| RS2522290235 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3 |
| RS2522290244 |
ATP7A
|
Health Risk |
Likely pathogenic |
Menkes kinky-hair syndrome, Cutis laxa |
| RS2522290463 |
ATP7A
|
Health Risk |
Likely pathogenic |
Menkes kinky-hair syndrome, Cutis laxa |
| RS2522290776 |
ATP7A
|
Health Risk |
Likely pathogenic |
Cutis laxa, X-linked |
| RS2522291178 |
PEX10
|
Health Risk |
Likely pathogenic |
— |
| RS2522291397 |
ABCD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522291443 |
PEX10
|
Health Risk |
Likely pathogenic |
— |
| RS2522291662 |
ABCD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522291684 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522291735 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522291808 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522292002 |
PEX10
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6A (Zellweger) |
| RS2522292110 |
PEX10
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B |
| RS2522292124 |
PEX10
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder, complementation group 7 |
| RS2522292254 |
PEX10
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6A (Zellweger) |
| RS2522292383 |
PEX10
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder, complementation group 7 |
| RS2522292394 |
ATP7A
|
Health Risk |
Likely pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS2522292530 |
ATP7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Menkes kinky-hair syndrome, Cutis laxa |
| RS2522292613 |
ATP7A
|
Health Risk |
Pathogenic |
X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome |
| RS2522292860 |
ATP7A
|
Health Risk |
Likely pathogenic |
Menkes kinky-hair syndrome, Cutis laxa |
| RS2522293121 |
ATP7A
|
Health Risk |
Likely pathogenic |
Menkes kinky-hair syndrome, Cutis laxa |
| RS2522293582 |
ATP7A
|
Health Risk |
Pathogenic |
X-linked distal spinal muscular atrophy type 3, Cutis laxa |
| RS2522293717 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Cutis laxa |
| RS2522293888 |
ATP7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Cutis laxa, X-linked |
| RS2522294115 |
ATP7A
|
Health Risk |
Likely pathogenic |
Menkes kinky-hair syndrome, Cutis laxa |
| RS2522294291 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS2522294546 |
ATP7A
|
Health Risk |
Likely pathogenic |
Menkes kinky-hair syndrome, Cutis laxa |
| RS2522294774 |
ATP7A
|
Health Risk |
Likely pathogenic |
Menkes kinky-hair syndrome, Cutis laxa |
| RS2522294894 |
ATP7A
|
Health Risk |
Likely pathogenic |
Menkes kinky-hair syndrome, Cutis laxa |
| RS2522295279 |
ATP7A
|
Health Risk |
Likely pathogenic |
Menkes kinky-hair syndrome, Cutis laxa |
| RS2522295388 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3 |
| RS2522295420 |
ATP7A
|
Health Risk |
Likely pathogenic |
Menkes kinky-hair syndrome, Cutis laxa |
| RS2522296899 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522296943 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522296974 |
ABCD1
|
Health Risk |
Pathogenic |
— |
| RS2522296982 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522296993 |
ABCD1
|
Health Risk |
Likely pathogenic |
— |
| RS2522297001 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522297059 |
ABCD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522297087 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522297115 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522297147 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522297188 |
ABCD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Adrenoleukodystrophy |
| RS2522297262 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522297303 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522297319 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522297333 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522297431 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522297508 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522298609 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522298866 |
ABCD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522298889 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522299010 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522300691 |
PLP1
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS2522301037 |
PLP1
|
Health Risk |
Likely pathogenic |
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522301062 |
PLP1
|
Health Risk |
Likely pathogenic |
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522301179 |
PLP1
|
Health Risk |
Likely pathogenic |
PLP1-related disorder, Pelizaeus-Merzbacher disease |
| RS2522301288 |
PLP1
|
Health Risk |
Likely pathogenic |
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522301325 |
PLP1
|
Health Risk |
Likely pathogenic |
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522301460 |
PLP1
|
Health Risk |
Likely pathogenic |
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522301484 |
PLP1
|
Health Risk |
Likely pathogenic |
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522301501 |
PLP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Pelizaeus-Merzbacher disease |
| RS2522301526 |
PLP1
|
Health Risk |
Likely pathogenic |
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522301573 |
PLP1
|
Health Risk |
Likely pathogenic |
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522301625 |
PLP1
|
Health Risk |
Likely pathogenic |
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522301673 |
PLP1
|
Health Risk |
Likely pathogenic |
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522301730 |
PLP1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS2522301757 |
PLP1
|
Health Risk |
Likely pathogenic |
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522301910 |
PLP1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS2522301939 |
PLP1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS2522302506 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522302586 |
ABCD1
|
Health Risk |
Pathogenic |
— |
| RS2522302700 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522302710 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522302717 |
ABCD1
|
Health Risk |
Likely pathogenic |
— |
| RS2522302762 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522302810 |
ABCD1
|
Health Risk |
Pathogenic |
— |
| RS2522303217 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522303280 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522303423 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522303497 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522303766 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522304315 |
ABCD1
|
Health Risk |
Likely pathogenic |
— |
| RS2522304384 |
ABCD1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Adrenoleukodystrophy |
| RS2522304398 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522304453 |
NMNAT1
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS2522306478 |
PHKA1
|
Health Risk |
Pathogenic |
Glycogen storage disease IXd, Glycogen storage disease IXd |
| RS2522306651 |
PLP1
|
Health Risk |
Likely pathogenic |
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522306764 |
PLP1
|
Health Risk |
Likely pathogenic |
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522306943 |
PLP1
|
Health Risk |
Likely pathogenic |
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522307136 |
PLP1
|
Health Risk |
Likely pathogenic |
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522307282 |
PLP1
|
Health Risk |
Pathogenic |
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522307850 |
PLP1
|
Health Risk |
Likely pathogenic |
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522307891 |
PLP1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS2522307983 |
PLP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease |
| RS2522307997 |
PLP1
|
Health Risk |
Pathogenic |
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |