| RS1060501904 |
FGD4
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1060501915 |
MFN2
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 2, Inborn genetic diseases |
| RS1060501917 |
MFN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2 |
| RS1060501918 |
MFN2
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS1060501920 |
MFN2
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS1060501921 |
MFN2
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS1060501923 |
RAD50
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501925 |
MFN2
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease type 2, Cerebral palsy |
| RS1060501933 |
RAD50
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501936 |
RAD50
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder |
| RS1060501941 |
RAD50
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder |
| RS1060501942 |
RAD50
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder |
| RS1060501946 |
RAD50
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501948 |
RAD50
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501949 |
RAD50
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501954 |
RAD50
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder |
| RS1060501970 |
RAD50
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder |
| RS1060501973 |
RAD50
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501984 |
TGFBR2
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1060501985 |
TGFBR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1060501987 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1060501989 |
MSH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS1060501990 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1060501991 |
MSH2
|
Health Risk |
Likely pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1060501992 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1060501993 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1060501994 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1060501995 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1060501996 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1060501997 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1060501998 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1060502000 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS1060502001 |
MSH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome |
| RS1060502002 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1060502003 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1060502008 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1060502011 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1060502014 |
MSH2
|
Health Risk |
Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1060502015 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1060502016 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1060502019 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS1060502020 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1060502021 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1060502023 |
MSH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS1060502025 |
MSH2
|
Health Risk |
Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1060502026 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1060502027 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome |
| RS1060502029 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS1060502031 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1060502032 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1060502033 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1060502034 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1060502035 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS1060502036 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1060502037 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1060502038 |
MSH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1060502039 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1060502040 |
TGFBR1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Multiple self-healing squamous epithelioma |
| RS1060502042 |
TGFBR1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1060502045 |
TGFBR1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1060502046 |
TGFBR1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial aortopathy |
| RS1060502047 |
SCN9A
|
Health Risk |
Likely pathogenic |
Generalized epilepsy with febrile seizures plus, type 7 |
| RS1060502053 |
LGI1
|
Health Risk |
Pathogenic |
Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features |
| RS1060502054 |
LGI1
|
Health Risk |
Pathogenic |
Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features |
| RS1060502057 |
SMARCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome |
| RS1060502059 |
SMARCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome |
| RS1060502064 |
SMARCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome |
| RS1060502069 |
SMARCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome |
| RS1060502077 |
SMARCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2 |
| RS1060502081 |
SMARCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome |
| RS1060502082 |
SMARCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome |
| RS1060502085 |
SMARCA4
|
Health Risk |
Pathogenic |
Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2 |
| RS1060502087 |
SMARCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome |
| RS1060502089 |
SMARCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome |
| RS1060502092 |
SMARCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome |
| RS1060502095 |
SMARCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome |
| RS1060502098 |
SMARCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome |
| RS1060502100 |
SMARCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome |
| RS1060502102 |
SMARCA4
|
Health Risk |
Likely pathogenic |
Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2 |
| RS1060502105 |
SMARCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome |
| RS1060502109 |
FKRP
|
Health Risk |
Pathogenic/Likely pathogenic |
Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS1060502111 |
FKRP
|
Health Risk |
Conflicting classifications of pathogenicity |
Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype |
| RS1060502114 |
TRDN
|
Health Risk |
Pathogenic |
Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS1060502116 |
TRDN
|
Health Risk |
Likely pathogenic |
Catecholaminergic polymorphic ventricular tachycardia 5, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS1060502119 |
CEBPA
|
Health Risk |
Conflicting classifications of pathogenicity |
Acute myeloid leukemia, Inborn genetic diseases |
| RS1060502121 |
CEBPA
|
Health Risk |
Pathogenic |
Acute myeloid leukemia, Acute myeloid leukemia |
| RS1060502123 |
CEBPA
|
Health Risk |
Conflicting classifications of pathogenicity |
Acute myeloid leukemia, Inborn genetic diseases |
| RS1060502124 |
CEBPA
|
Health Risk |
Conflicting classifications of pathogenicity |
Acute myeloid leukemia, Inborn genetic diseases |
| RS1060502125 |
CEBPA
|
Health Risk |
Conflicting classifications of pathogenicity |
Acute myeloid leukemia, Inborn genetic diseases |
| RS1060502131 |
AXIN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502139 |
AXIN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502155 |
AXIN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502157 |
AXIN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502161 |
ELAC2
|
Health Risk |
Pathogenic/Likely pathogenic |
Combined oxidative phosphorylation defect type 17, Inborn genetic diseases |
| RS1060502164 |
CASQ2
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS1060502175 |
PCDH19
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 9 |
| RS1060502176 |
PCDH19
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 9 |
| RS1060502179 |
TPP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS1060502182 |
SCN1A
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS1060502183 |
SCN1A
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |