| RS28933407 |
MYC
|
Health Risk |
Pathogenic |
Burkitt lymphoma, Burkitt lymphoma |
| RS28933408 |
THRB
|
Health Risk |
Pathogenic/Likely pathogenic |
Thyroid hormone resistance, generalized |
| RS28933668 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS28933669 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS28933670 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS28933671 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS28933672 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS28933674 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS28933675 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor IX deficiency disease |
| RS28933676 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS28933677 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS28933678 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS28933680 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS28933681 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS28933682 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS28933683 |
L1CAM
|
Health Risk |
Conflicting classifications of pathogenicity |
MASA syndrome, Spastic paraplegia |
| RS28933684 |
NDP
|
Health Risk |
Pathogenic |
Exudative vitreoretinopathy 2, X-linked |
| RS28933685 |
NDP
|
Health Risk |
Pathogenic |
Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS28933687 |
RP2
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 2, Retinal dystrophy |
| RS28933688 |
SERPINA7
|
Health Risk |
association |
Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus |
| RS28933689 |
SERPINA7
|
Health Risk |
Pathogenic |
Thyroxine-binding globulin deficiency, partial |
| RS28933690 |
XK
|
Health Risk |
Pathogenic |
McLeod neuroacanthocytosis syndrome, McLeod neuroacanthocytosis syndrome |
| RS28933693 |
SGCA
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2D, Sarcoglycanopathy |
| RS28933696 |
NOTCH3
|
Health Risk |
Pathogenic |
Cerebral arteriopathy, autosomal dominant |
| RS28933697 |
NOTCH3
|
Health Risk |
Pathogenic |
Cerebral arteriopathy, autosomal dominant |
| RS28933698 |
NOTCH3
|
Health Risk |
Conflicting classifications of pathogenicity |
Cerebral arteriopathy, autosomal dominant |
| RS28933699 |
COMP
|
Health Risk |
Likely pathogenic |
COMP-related disorder, COMP-related disorder |
| RS28933970 |
PAX9
|
Health Risk |
Pathogenic |
Tooth agenesis, selective |
| RS28933971 |
PAX9
|
Health Risk |
Pathogenic |
Tooth agenesis, selective |
| RS28933972 |
PAX9
|
Health Risk |
Pathogenic |
Tooth agenesis, selective |
| RS28933973 |
PRF1
|
Health Risk |
Pathogenic |
Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis |
| RS28933977 |
ENPP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Arterial calcification, generalized |
| RS28933979 |
TTR
|
Health Risk |
Pathogenic |
Amyloidosis, hereditary systemic 1 |
| RS28933981 |
TTR
|
Health Risk |
Conflicting classifications of pathogenicity |
AMYLOIDOSIS, HEREDITARY SYSTEMIC 1 |
| RS28933985 |
INS
|
Health Risk |
Pathogenic |
Hyperproinsulinemia, INS-related disorder |
| RS28933990 |
RLBP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Bothnia retinal dystrophy, Retinitis punctata albescens |
| RS28933993 |
RHO
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 4, Retinal dystrophy |
| RS28934002 |
ATP1A2
|
Health Risk |
Conflicting classifications of pathogenicity |
Alternating hemiplegia of childhood 1, Familial hemiplegic migraine |
| RS28934274 |
GLB1
|
Health Risk |
Pathogenic |
Infantile GM1 gangliosidosis, Mucopolysaccharidosis |
| RS28934568 |
TGFBR2
|
Health Risk |
Pathogenic |
Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2 |
| RS28934571 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Hepatocellular carcinoma, Cervical cancer |
| RS28934573 |
TP53
|
Health Risk |
Pathogenic/Likely pathogenic |
Hepatoblastoma, Bone osteosarcoma |
| RS28934574 |
TP53
|
Health Risk |
Pathogenic |
Li-fraumeni-like syndrome, Li-Fraumeni syndrome |
| RS28934575 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome |
| RS28934576 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome 1, Thyroid gland undifferentiated (anaplastic) carcinoma |
| RS28934577 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-fraumeni-like syndrome, Li-Fraumeni syndrome |
| RS28934578 |
TP53
|
Health Risk |
Likely pathogenic |
Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome |
| RS28934580 |
TH
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS28934582 |
UMOD
|
Health Risk |
Pathogenic |
Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS28934583 |
UMOD
|
Health Risk |
Pathogenic |
Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS28934584 |
UMOD
|
Health Risk |
Likely pathogenic |
Familial juvenile hyperuricemic nephropathy type 1, UMOD-related disorder |
| RS28934586 |
CYP11B1
|
Health Risk |
Pathogenic |
Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism |
| RS28934588 |
FUT1
|
Health Risk |
Pathogenic; Affects |
BOMBAY PHENOTYPE, DIGENIC |
| RS28934589 |
SLC25A20
|
Health Risk |
Pathogenic |
Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS28934590 |
C2
|
Health Risk |
Pathogenic |
C2 deficiency, type II |
| RS28934591 |
HSD11B2
|
Health Risk |
Pathogenic |
Apparent mineralocorticoid excess, Apparent mineralocorticoid excess |
| RS28934592 |
HSD11B2
|
Health Risk |
Pathogenic/Likely pathogenic |
Apparent mineralocorticoid excess, Apparent mineralocorticoid excess |
| RS28934594 |
HSD11B2
|
Health Risk |
Pathogenic |
Apparent mineralocorticoid excess, Apparent mineralocorticoid excess |
| RS28934601 |
BTD
|
Health Risk |
Pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS28934602 |
HLCS
|
Health Risk |
Pathogenic |
Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency |
| RS28934603 |
CTSA
|
Health Risk |
Pathogenic |
Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS28934604 |
CYP27B1
|
Health Risk |
Likely pathogenic |
Vitamin D-dependent rickets, type 1 |
| RS28934605 |
CYP27B1
|
Health Risk |
Likely pathogenic |
Vitamin D-dependent rickets, type 1A |
| RS28934606 |
CYP27B1
|
Health Risk |
Pathogenic |
Vitamin D-dependent rickets, type 1A |
| RS28934608 |
F11
|
Health Risk |
Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS28934609 |
F11
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS28934610 |
MYO7A
|
Health Risk |
Pathogenic/Likely pathogenic |
Usher syndrome type 1B, Rare genetic deafness |
| RS28934611 |
MID1
|
Health Risk |
Pathogenic |
X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome |
| RS28934872 |
TSC2
|
Health Risk |
Pathogenic/Likely pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis syndrome |
| RS28934873 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome |
| RS28934874 |
TP53
|
Health Risk |
Pathogenic |
Breast adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS28934875 |
TP53
|
Health Risk |
Likely pathogenic |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome |
| RS28934876 |
DPAGT1
|
Health Risk |
Conflicting classifications of pathogenicity |
DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13 |
| RS28934878 |
AVP
|
Health Risk |
Pathogenic |
Neurohypophyseal diabetes insipidus, Neurohypophyseal diabetes insipidus |
| RS28934880 |
HSD3B2
|
Health Risk |
Likely pathogenic |
3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS28934886 |
GLB1
|
Health Risk |
Pathogenic/Likely pathogenic |
GM1 gangliosidosis type 3, Mucopolysaccharidosis |
| RS28934891 |
CBS
|
Health Risk |
Pathogenic/Likely pathogenic |
HYPERHOMOCYSTEINEMIA, THROMBOTIC |
| RS28934892 |
CBS
|
Health Risk |
Conflicting classifications of pathogenicity |
HYPERHOMOCYSTEINEMIA, THROMBOTIC |
| RS28934897 |
MVK
|
Health Risk |
Pathogenic/Likely pathogenic |
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria |
| RS28934904 |
MECP2
|
Health Risk |
Likely pathogenic |
Rett syndrome, zappella variant |
| RS28934905 |
MECP2
|
Health Risk |
Likely pathogenic |
Rett syndrome, Rett syndrome |
| RS28934906 |
MECP2
|
Health Risk |
Likely pathogenic |
Rett syndrome, Autism |
| RS28934907 |
MECP2
|
Health Risk |
Likely pathogenic |
Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly |
| RS28934908 |
MECP2
|
Health Risk |
Pathogenic/Likely pathogenic |
X-linked intellectual disability-psychosis-macroorchidism syndrome, Rett syndrome |
| RS28935168 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Rett syndrome |
| RS28935169 |
FLNA
|
Health Risk |
Pathogenic |
Heterotopia, periventricular |
| RS28935170 |
EFNB1
|
Health Risk |
Pathogenic |
Craniofrontonasal syndrome, Craniofrontonasal syndrome |
| RS28935171 |
RPS6KA3
|
Health Risk |
Pathogenic/Likely pathogenic |
Coffin-Lowry syndrome, Intellectual disability |
| RS28935174 |
EBP
|
Health Risk |
Pathogenic |
Chondrodysplasia punctata 2 X-linked dominant, MEND syndrome |
| RS28935177 |
TBX22
|
Health Risk |
Pathogenic |
Cleft palate with ankyloglossia, Cleft palate with ankyloglossia |
| RS28935195 |
GLA
|
Health Risk |
Pathogenic/Likely pathogenic |
Fabry disease, Fabry disease |
| RS28935196 |
GLA
|
Health Risk |
Pathogenic/Likely pathogenic |
Fabry disease, Fabry disease |
| RS28935197 |
GLA
|
Health Risk |
Pathogenic/Likely pathogenic |
Fabry disease, Cardiovascular phenotype |
| RS28935203 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Inborn genetic diseases |
| RS28935468 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Angelman syndrome |
| RS28935469 |
FLNA
|
Health Risk |
Pathogenic/Likely pathogenic |
Oto-palato-digital syndrome, type I |
| RS28935470 |
FLNA
|
Health Risk |
Pathogenic |
Oto-palato-digital syndrome, type II |
| RS28935471 |
FLNA
|
Health Risk |
Pathogenic |
Frontometaphyseal dysplasia 1, Frontometaphyseal dysplasia 1 |
| RS28935472 |
FLNA
|
Health Risk |
Pathogenic/Likely pathogenic |
Melnick-Needles syndrome, Frontometaphyseal dysplasia |
| RS28935473 |
FLNA
|
Health Risk |
Pathogenic/Likely pathogenic |
Melnick-Needles syndrome, Frontometaphyseal dysplasia |