| RS730881984 |
STK11
|
Health Risk |
Pathogenic/Likely pathogenic |
Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS730881986 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS730881990 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome |
| RS730881991 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome |
| RS730881992 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome |
| RS730881994 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS730881999 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Ovarian neoplasm |
| RS730882000 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Ovarian neoplasm, Li-Fraumeni syndrome |
| RS730882001 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome |
| RS730882002 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome |
| RS730882004 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS730882005 |
TP53
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome |
| RS730882006 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome |
| RS730882007 |
TP53
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Ovarian neoplasm |
| RS730882008 |
TP53
|
Health Risk |
Pathogenic/Likely pathogenic |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS730882013 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1 |
| RS730882015 |
TP53
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1 |
| RS730882016 |
TP53
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS730882017 |
TP53
|
Health Risk |
Pathogenic |
— |
| RS730882018 |
TP53
|
Health Risk |
Pathogenic |
Li-fraumeni-like syndrome, Hereditary cancer-predisposing syndrome |
| RS730882019 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome |
| RS730882020 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS730882023 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Li-Fraumeni syndrome 1 |
| RS730882025 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS730882026 |
TP53
|
Health Risk |
Pathogenic/Likely pathogenic |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS730882027 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Li-Fraumeni syndrome 1 |
| RS730882028 |
TP53
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome |
| RS730882029 |
TP53
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome |
| RS730882030 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS730882031 |
VHL
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome |
| RS730882032 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS730882033 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS730882034 |
VHL
|
Health Risk |
Pathogenic/Likely pathogenic |
Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS730882035 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS730882037 |
VHL
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS730882039 |
VHL
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS730882040 |
XRCC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS730882046 |
XRCC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS730882048 |
XRCC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Breast carcinoma |
| RS730882050 |
ALG14
|
Health Risk |
Pathogenic |
Congenital myasthenic syndrome 15, Congenital myasthenic syndrome 15 |
| RS730882051 |
ALG2
|
Health Risk |
Pathogenic |
Congenital myasthenic syndrome 14, Congenital myasthenic syndrome 14 |
| RS730882052 |
CASQ1
|
Health Risk |
Pathogenic |
Myopathy due to calsequestrin and SERCA1 protein overload, Myopathy due to calsequestrin and SERCA1 protein overload |
| RS730882054 |
FOXC1
|
Health Risk |
Pathogenic |
— |
| RS730882056 |
BRCA1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Breast-ovarian cancer |
| RS730882057 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS730882058 |
PHYH
|
Health Risk |
Pathogenic |
REFSUM DISEASE, ADULT |
| RS730882059 |
GP1BB
|
Health Risk |
Pathogenic |
Bernard-Soulier syndrome, type B |
| RS730882061 |
KIF11
|
Health Risk |
Pathogenic |
Microcephaly with or without chorioretinopathy, lymphedema |
| RS730882062 |
KIF11
|
Health Risk |
Pathogenic |
Microcephaly with or without chorioretinopathy, lymphedema |
| RS730882063 |
KIF11
|
Health Risk |
Pathogenic |
Microcephaly with or without chorioretinopathy, lymphedema |
| RS730882064 |
PRSS56
|
Health Risk |
Pathogenic |
Isolated microphthalmia 6, Nanophthalmia |
| RS730882065 |
PRRT2
|
Health Risk |
Pathogenic |
Episodic kinesigenic dyskinesia 1, Episodic kinesigenic dyskinesia |
| RS730882066 |
PRRT2
|
Health Risk |
Pathogenic |
Episodic kinesigenic dyskinesia 1, Episodic kinesigenic dyskinesia 1 |
| RS730882067 |
PRRT2
|
Health Risk |
Pathogenic |
Infantile convulsions and choreoathetosis, Episodic kinesigenic dyskinesia |
| RS730882068 |
PRRT2
|
Health Risk |
Pathogenic |
Infantile convulsions and choreoathetosis, Episodic kinesigenic dyskinesia |
| RS730882073 |
PRRT2
|
Health Risk |
Pathogenic |
Seizures, benign familial infantile |
| RS730882076 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS730882078 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS730882080 |
LDLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS730882081 |
LDLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS730882082 |
LDLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS730882085 |
LDLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholesterolemia, familial |
| RS730882086 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS730882089 |
LDLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholesterolemia, familial |
| RS730882090 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS730882094 |
LDLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS730882096 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS730882098 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS730882099 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS730882100 |
LDLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS730882102 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS730882103 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS730882105 |
LDLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS730882107 |
LDLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial hypercholesterolemia, Hypercholesterolemia |
| RS730882108 |
LDLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS730882109 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS730882110 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS730882116 |
DSP
|
Health Risk |
Conflicting classifications of pathogenicity |
Lethal acantholytic epidermolysis bullosa, Arrhythmogenic right ventricular dysplasia 8 |
| RS730882118 |
ITGB6
|
Health Risk |
Pathogenic |
Amelogenesis imperfecta type 1H, Amelogenesis imperfecta type 1H |
| RS730882119 |
RAD51D
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS730882121 |
KIF11
|
Health Risk |
Pathogenic |
Microcephaly with or without chorioretinopathy, lymphedema |
| RS730882122 |
KIF11
|
Health Risk |
Pathogenic |
Microcephaly with or without chorioretinopathy, lymphedema |
| RS730882123 |
ALG2
|
Health Risk |
Pathogenic |
Congenital myasthenic syndrome 14, Congenital myasthenic syndrome 14 |
| RS730882124 |
PRRT2
|
Health Risk |
Pathogenic/Likely pathogenic |
Seizures, benign familial infantile |
| RS730882127 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS730882130 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome 5, Hereditary cancer-predisposing syndrome |
| RS730882131 |
PTEN
|
Health Risk |
Pathogenic/Likely pathogenic |
PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome |
| RS730882133 |
NBN
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly, normal intelligence and immunodeficiency |
| RS730882134 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS730882135 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS730882136 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS730882139 |
DNAJB2
|
Health Risk |
Pathogenic |
Neuronopathy, distal hereditary motor |
| RS730882140 |
DNAJB2
|
Health Risk |
Likely pathogenic |
Neuronopathy, distal hereditary motor |
| RS730882141 |
MFRP
|
Health Risk |
Pathogenic |
Isolated microphthalmia 5, Isolated microphthalmia 5 |
| RS730882142 |
MFRP
|
Health Risk |
Conflicting classifications of pathogenicity |
Isolated microphthalmia 5, Isolated microphthalmia 5 |
| RS730882143 |
MFRP
|
Health Risk |
Pathogenic/Likely pathogenic |
Isolated microphthalmia 5, Nanophthalmos 2 |
| RS730882145 |
EXOSC3
|
Health Risk |
Pathogenic |
Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B |
| RS730882148 |
PRKAG2
|
Health Risk |
Pathogenic |
Lethal congenital glycogen storage disease of heart, Lethal congenital glycogen storage disease of heart |
| RS730882149 |
NR2E3
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 37, Goldmann-Favre syndrome |
| RS730882150 |
KIFBP
|
Health Risk |
Pathogenic |
Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome |