| RS1060499983 |
MEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple endocrine neoplasia, type 1 |
| RS1060499984 |
MEN1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia |
| RS1060499986 |
MEN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS1060499987 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS1060499988 |
MEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple endocrine neoplasia, type 1 |
| RS1060499990 |
MEN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS1060499991 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS1060499992 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS1060499993 |
MEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple endocrine neoplasia, type 1 |
| RS1060499994 |
MEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple endocrine neoplasia, type 1 |
| RS1060499995 |
MEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple endocrine neoplasia, type 1 |
| RS1060499997 |
JPH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS1060499999 |
SBF2
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 4, Ovarian serous cystadenocarcinoma |
| RS1060500001 |
SBF2
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1060500009 |
CDC73
|
Health Risk |
Pathogenic |
Parathyroid carcinoma, Hereditary cancer-predisposing syndrome |
| RS1060500012 |
CDC73
|
Health Risk |
Likely pathogenic |
Parathyroid carcinoma, Parathyroid carcinoma |
| RS1060500014 |
CDC73
|
Health Risk |
Conflicting classifications of pathogenicity |
Parathyroid carcinoma, Hereditary cancer-predisposing syndrome |
| RS1060500015 |
CDC73
|
Health Risk |
Pathogenic |
Parathyroid carcinoma, Parathyroid carcinoma |
| RS1060500019 |
CDC73
|
Health Risk |
Pathogenic |
Parathyroid carcinoma, Parathyroid carcinoma |
| RS1060500020 |
CDC73
|
Health Risk |
Pathogenic |
Parathyroid carcinoma, Parathyroid carcinoma |
| RS1060500034 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS1060500039 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS1060500044 |
TAFAZZIN
|
Health Risk |
Likely pathogenic |
3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS1060500046 |
GRIN1
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
| RS1060500053 |
KCNJ2
|
Health Risk |
Pathogenic |
Andersen Tawil syndrome, Short QT syndrome type 3 |
| RS1060500091 |
GATA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections |
| RS1060500092 |
GATA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections |
| RS1060500098 |
MAX
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |
| RS1060500101 |
MAX
|
Health Risk |
Pathogenic |
Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |
| RS1060500103 |
HCN4
|
Health Risk |
Likely pathogenic |
Brugada syndrome 8, Brugada syndrome 8 |
| RS1060500107 |
HCN4
|
Health Risk |
Likely pathogenic |
Brugada syndrome 8, HCN4-related disorder |
| RS1060500110 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome |
| RS1060500113 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS1060500114 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, Cowden syndrome 1 |
| RS1060500115 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome |
| RS1060500116 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome |
| RS1060500118 |
PTEN
|
Health Risk |
Conflicting classifications of pathogenicity |
PTEN hamartoma tumor syndrome, Cowden syndrome 1 |
| RS1060500121 |
PTEN
|
Health Risk |
Conflicting classifications of pathogenicity |
PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome |
| RS1060500122 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome |
| RS1060500123 |
OFD1
|
Health Risk |
Pathogenic |
Joubert syndrome, Orofaciodigital syndrome I |
| RS1060500124 |
PTEN
|
Health Risk |
Likely pathogenic |
PTEN hamartoma tumor syndrome, Cowden syndrome 1 |
| RS1060500125 |
PTEN
|
Health Risk |
Conflicting classifications of pathogenicity |
PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome |
| RS1060500126 |
PTEN
|
Health Risk |
Pathogenic/Likely pathogenic |
PTEN hamartoma tumor syndrome, Cowden syndrome 1 |
| RS1060500128 |
PTEN
|
Health Risk |
Conflicting classifications of pathogenicity |
PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS1060500134 |
ACTA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Aortic aneurysm, familial thoracic 6 |
| RS1060500135 |
RYR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2 |
| RS1060500137 |
RYR2
|
Health Risk |
Likely pathogenic |
Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype |
| RS1060500142 |
RYR2
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS1060500150 |
RYR2
|
Health Risk |
Likely pathogenic |
Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS1060500156 |
RYR2
|
Health Risk |
Pathogenic |
Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS1060500168 |
RYR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 2 |
| RS1060500169 |
RYR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome |
| RS1060500186 |
CDKN1B
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4 |
| RS1060500187 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS1060500193 |
COL3A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS1060500194 |
COL3A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS1060500195 |
COL3A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Ehlers-Danlos syndrome, type 4 |
| RS1060500199 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS1060500200 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS1060500203 |
COL3A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS1060500204 |
COL3A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS1060500214 |
ALK
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuroblastoma, susceptibility to |
| RS1060500225 |
ALK
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuroblastoma, susceptibility to |
| RS1060500231 |
ALK
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuroblastoma, susceptibility to |
| RS1060500242 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1060500243 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1060500244 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1060500245 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1060500246 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1060500250 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1060500252 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1060500253 |
NF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurofibromatosis, type 1 |
| RS1060500254 |
NF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurofibromatosis, type 1 |
| RS1060500255 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1060500262 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1060500263 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1060500266 |
NF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurofibromatosis, type 1 |
| RS1060500268 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1060500269 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1060500270 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1060500271 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1060500273 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1060500274 |
NF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurofibromatosis, type 1 |
| RS1060500276 |
NF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurofibromatosis, type 1 |
| RS1060500278 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1060500280 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1060500281 |
NF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurofibromatosis, type 1 |
| RS1060500284 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1060500286 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1060500287 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS1060500288 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1060500291 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1060500292 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1060500294 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1060500295 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1060500296 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS1060500297 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS1060500298 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS1060500299 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1060500300 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |