| RS2103123824 |
CDC73
|
Health Risk |
Pathogenic |
Parathyroid carcinoma, Parathyroid carcinoma |
| RS2103123828 |
CDC73
|
Health Risk |
Pathogenic |
Parathyroid carcinoma, Hereditary cancer-predisposing syndrome |
| RS2103126261 |
CDC73
|
Health Risk |
Pathogenic |
Parathyroid carcinoma, Hyperparathyroidism 1 |
| RS2103126265 |
CDC73
|
Health Risk |
Pathogenic |
Parathyroid carcinoma, Parathyroid carcinoma |
| RS2103130072 |
MTR
|
Health Risk |
Likely pathogenic |
Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG |
| RS2103130589 |
CDC73
|
Health Risk |
Pathogenic/Likely pathogenic |
Parathyroid carcinoma, Hereditary cancer-predisposing syndrome |
| RS2103132218 |
CDC73
|
Health Risk |
Pathogenic |
Parathyroid carcinoma, Parathyroid carcinoma |
| RS2103132220 |
CDC73
|
Health Risk |
Pathogenic |
Parathyroid carcinoma, Parathyroid carcinoma |
| RS2103132250 |
CDC73
|
Health Risk |
Pathogenic |
Parathyroid carcinoma, Parathyroid carcinoma |
| RS2103174031 |
NLRP3
|
Health Risk |
Pathogenic/Likely pathogenic |
Keratitis fugax hereditaria, Familial cold autoinflammatory syndrome 1 |
| RS2103178097 |
CDC73
|
Health Risk |
Pathogenic |
Parathyroid carcinoma, Hereditary cancer-predisposing syndrome |
| RS2103276324 |
SOX11
|
Health Risk |
Likely pathogenic |
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS2103276330 |
SOX11
|
Health Risk |
Likely pathogenic |
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS2103276337 |
SOX11
|
Health Risk |
Likely pathogenic |
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS2103276338 |
SOX11
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS2103276340 |
SOX11
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS2103276343 |
SOX11
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2103276364 |
SOX11
|
Health Risk |
Likely pathogenic |
Craniosynostosis syndrome, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS2103276445 |
SOX11
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2103276750 |
SOX11
|
Health Risk |
Likely pathogenic |
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS2103291536 |
CTRC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary pancreatitis, Hereditary pancreatitis |
| RS2103306487 |
LYST
|
Health Risk |
Likely pathogenic |
— |
| RS2103314747 |
LYST
|
Health Risk |
Likely pathogenic |
Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2103323892 |
MYCN
|
Health Risk |
Likely pathogenic |
Feingold syndrome type 1, Feingold syndrome type 1 |
| RS2103324037 |
MYCN
|
Health Risk |
Likely pathogenic |
See cases, Megalencephaly-polydactyly syndrome |
| RS2103324191 |
MYCN
|
Health Risk |
Pathogenic |
— |
| RS2103324867 |
MYCN
|
Health Risk |
Pathogenic/Likely pathogenic |
Feingold syndrome type 1, Feingold syndrome type 1 |
| RS2103325472 |
MYCN
|
Health Risk |
Pathogenic |
Feingold syndrome type 1, Feingold syndrome type 1 |
| RS2103330255 |
MYCN
|
Health Risk |
Likely pathogenic |
Feingold syndrome type 1, Feingold syndrome type 1 |
| RS2103330395 |
MYCN
|
Health Risk |
Pathogenic |
— |
| RS2103330798 |
MYCN
|
Health Risk |
Likely pathogenic |
— |
| RS2103331059 |
MYCN
|
Health Risk |
Pathogenic |
— |
| RS2103331674 |
MYCN
|
Health Risk |
Likely pathogenic |
Feingold syndrome type 1, Feingold syndrome type 1 |
| RS2103332022 |
MYCN
|
Health Risk |
Likely pathogenic |
— |
| RS2103346437 |
APOB
|
Health Risk |
Pathogenic |
Hypercholesterolemia, autosomal dominant |
| RS2103350572 |
APOB
|
Health Risk |
Pathogenic |
Hypercholesterolemia, autosomal dominant |
| RS2103350639 |
APOB
|
Health Risk |
Pathogenic |
Hypercholesterolemia, autosomal dominant |
| RS2103350703 |
APOB
|
Health Risk |
Pathogenic |
Hypercholesterolemia, autosomal dominant |
| RS2103351693 |
GGPS1
|
Health Risk |
Pathogenic |
Muscular dystrophy, congenital hearing loss |
| RS2103351813 |
GGPS1
|
Health Risk |
Pathogenic |
Muscular dystrophy, congenital hearing loss |
| RS2103351967 |
APOB
|
Health Risk |
Pathogenic |
Hypercholesterolemia, autosomal dominant |
| RS2103352410 |
APOB
|
Health Risk |
Pathogenic |
Familial hypobetalipoproteinemia 1, Hypercholesterolemia |
| RS2103352780 |
APOB
|
Health Risk |
Pathogenic |
Hypercholesterolemia, autosomal dominant |
| RS2103352794 |
APOB
|
Health Risk |
Pathogenic |
Familial hypobetalipoproteinemia 1, Hypercholesterolemia |
| RS2103354225 |
APOB
|
Health Risk |
Pathogenic |
Hypercholesterolemia, autosomal dominant |
| RS2103354801 |
APOB
|
Health Risk |
Pathogenic |
Hypercholesterolemia, autosomal dominant |
| RS2103354942 |
APOB
|
Health Risk |
Pathogenic |
Hypercholesterolemia, autosomal dominant |
| RS2103355239 |
APOB
|
Health Risk |
Pathogenic |
Hypercholesterolemia, autosomal dominant |
| RS2103355244 |
APOB
|
Health Risk |
Pathogenic |
Familial hypobetalipoproteinemia 1, Hypercholesterolemia |
| RS2103356720 |
APOB
|
Health Risk |
Pathogenic |
Familial hypobetalipoproteinemia 1, Hypercholesterolemia |
| RS2103357111 |
APOB
|
Health Risk |
Pathogenic |
Familial hypobetalipoproteinemia 1, Hypercholesterolemia |
| RS2103357318 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, autosomal dominant |
| RS2103359058 |
APOB
|
Health Risk |
Pathogenic |
— |
| RS2103361861 |
APOB
|
Health Risk |
Likely pathogenic |
Familial hypobetalipoproteinemia 1, Hypercholesterolemia |
| RS2103362763 |
APOB
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial hypobetalipoproteinemia 1, Hypercholesterolemia |
| RS2103367451 |
APOB
|
Health Risk |
Likely pathogenic |
— |
| RS2103380592 |
APOB
|
Health Risk |
Pathogenic |
Familial hypobetalipoproteinemia 1, Familial hypobetalipoproteinemia 1 |
| RS2103383976 |
APOB
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, autosomal dominant |
| RS2103384749 |
APOB
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial hypobetalipoproteinemia 1, Hypercholesterolemia |
| RS2103387447 |
APOB
|
Health Risk |
Pathogenic |
Hypercholesterolemia, autosomal dominant |
| RS2103388847 |
APOB
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial hypobetalipoproteinemia 1, Hypercholesterolemia |
| RS2103389975 |
APOB
|
Health Risk |
Pathogenic |
Hypercholesterolemia, autosomal dominant |
| RS2103390378 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, autosomal dominant |
| RS2103399754 |
WDR35
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2 |
| RS2103406171 |
WDR35
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2 |
| RS2103456695 |
WDR35
|
Health Risk |
Pathogenic |
— |
| RS2103484088 |
MATN3
|
Health Risk |
Likely pathogenic |
Multiple epiphyseal dysplasia, Multiple epiphyseal dysplasia |
| RS2103617318 |
LRPPRC
|
Health Risk |
Likely pathogenic |
— |
| RS2103624293 |
PPP1R21
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with hypotonia, facial dysmorphism |
| RS2103624540 |
LRPPRC
|
Health Risk |
Likely pathogenic |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type |
| RS2103641880 |
SIX3
|
Health Risk |
Pathogenic |
Holoprosencephaly 2, Holoprosencephaly 2 |
| RS2103642337 |
SIX3
|
Health Risk |
Likely pathogenic |
— |
| RS2103661277 |
LRPPRC
|
Health Risk |
Likely pathogenic |
— |
| RS2103672173 |
EPAS1
|
Health Risk |
Pathogenic |
Erythrocytosis, familial |
| RS2103672990 |
LRPPRC
|
Health Risk |
Pathogenic |
— |
| RS2103674254 |
TTC7A
|
Health Risk |
Likely pathogenic |
Multiple gastrointestinal atresias, Multiple gastrointestinal atresias |
| RS2103675633 |
SLC1A4
|
Health Risk |
Likely pathogenic |
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |
| RS2103675757 |
SLC1A4
|
Health Risk |
Pathogenic |
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |
| RS2103698244 |
TET3
|
Health Risk |
Pathogenic |
Beck-Fahrner syndrome, Beck-Fahrner syndrome |
| RS2103701341 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2103701730 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2103701996 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2103710225 |
LRPPRC
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type |
| RS2103710907 |
LRPPRC
|
Health Risk |
Likely pathogenic |
— |
| RS2103712799 |
LRPPRC
|
Health Risk |
Likely pathogenic |
— |
| RS2103713116 |
LRPPRC
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type |
| RS2103714765 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2103715123 |
LRPPRC
|
Health Risk |
Pathogenic |
— |
| RS2103720460 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2103720605 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2103725722 |
LRPPRC
|
Health Risk |
Likely pathogenic |
— |
| RS2103725910 |
LRPPRC
|
Health Risk |
Pathogenic |
— |
| RS2103734325 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Retinitis pigmentosa |
| RS2103734375 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2103734574 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2103734661 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2103745283 |
LRPPRC
|
Health Risk |
Pathogenic |
— |
| RS2103745422 |
LRPPRC
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type |
| RS2103745906 |
EPCAM
|
Health Risk |
Pathogenic |
— |
| RS2103746911 |
EPCAM
|
Health Risk |
Likely pathogenic |
— |