| RS63749984 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749985 |
RARS2
|
Health Risk |
Pathogenic |
Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS63749986 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63749990 |
MLH1
|
Health Risk |
Likely pathogenic |
Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms |
| RS63749991 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749993 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749994 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS63749995 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749999 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750001 |
PSEN1
|
Health Risk |
Likely pathogenic |
— |
| RS63750004 |
PSEN1
|
Health Risk |
Pathogenic |
Pick disease, Frontotemporal dementia |
| RS63750005 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750006 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750008 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750009 |
PSEN1
|
Health Risk |
Likely pathogenic |
Alzheimer disease, Alzheimer disease |
| RS63750012 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Mismatch repair cancer syndrome 1 |
| RS63750013 |
MAPT
|
Health Risk |
Pathogenic |
Frontotemporal dementia, Frontotemporal dementia |
| RS63750015 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS63750016 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Colorectal cancer |
| RS63750018 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS63750019 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750020 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750027 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750028 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750029 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Lynch syndrome 1 |
| RS63750034 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750035 |
MLH1
|
Health Risk |
Pathogenic |
Mismatch repair cancer syndrome 1, Colorectal cancer |
| RS63750036 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750037 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750039 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750042 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750044 |
MLH1
|
Health Risk |
Likely pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS63750046 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome 1 |
| RS63750047 |
MSH2
|
Health Risk |
Pathogenic |
Muir-Torré syndrome, Lynch syndrome |
| RS63750048 |
PSEN2
|
Health Risk |
Pathogenic |
Alzheimer disease 4, Alzheimer disease 4 |
| RS63750049 |
PMS2
|
Health Risk |
Pathogenic |
Lynch syndrome 4, Lynch syndrome |
| RS63750050 |
PSEN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Acne inversa, familial |
| RS63750052 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750053 |
PSEN1
|
Health Risk |
Pathogenic |
Pick disease, Frontotemporal dementia |
| RS63750054 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS63750057 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750058 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63750059 |
MLH1
|
Health Risk |
Likely pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750060 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750061 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750062 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750064 |
APP
|
Health Risk |
Likely pathogenic |
— |
| RS63750065 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63750066 |
APP
|
Health Risk |
Likely pathogenic |
Alzheimer disease type 1, Alzheimer disease |
| RS63750067 |
HBA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Alpha-thalassemia-2, nondeletional |
| RS63750068 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750069 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750070 |
MSH2
|
Health Risk |
Pathogenic |
Carcinoma of colon, Hereditary nonpolyposis colorectal neoplasms |
| RS63750071 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750075 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750077 |
GRN
|
Health Risk |
Pathogenic |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions |
| RS63750078 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750079 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS63750081 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750082 |
PSEN1
|
Health Risk |
Pathogenic |
Alzheimer disease 3, Pick disease |
| RS63750083 |
PSEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Alzheimer disease 3, Pick disease |
| RS63750084 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS63750086 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750087 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Neoplasm |
| RS63750088 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Mismatch repair cancer syndrome 1 |
| RS63750090 |
HBA1
|
Health Risk |
Pathogenic/Likely pathogenic |
alpha Thalassemia, Methemoglobinemia |
| RS63750091 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750092 |
MAPT
|
Health Risk |
Pathogenic |
Frontotemporal dementia, Frontotemporal dementia |
| RS63750094 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750095 |
MAPT
|
Health Risk |
Pathogenic/Likely pathogenic |
Frontotemporal dementia, Frontotemporal dementia |
| RS63750096 |
MAPT
|
Health Risk |
Conflicting classifications of pathogenicity |
MAPT-Related Spectrum Disorders, Frontotemporal dementia |
| RS63750097 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750098 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Mismatch repair cancer syndrome 1 |
| RS63750099 |
HBB
|
Health Risk |
Pathogenic |
Beta zero thalassemia, beta Thalassemia |
| RS63750102 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS63750103 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750104 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750106 |
PMS2
|
Health Risk |
Pathogenic |
Lynch syndrome, Mismatch repair cancer syndrome 4 |
| RS63750107 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750108 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS63750109 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750111 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750113 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750114 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750115 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750119 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750124 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS63750126 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS63750128 |
HBB
|
Health Risk |
Pathogenic |
beta Thalassemia, Hemoglobinopathy |
| RS63750129 |
MAPT
|
Health Risk |
Pathogenic |
Pick disease, Pick disease |
| RS63750131 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750132 |
MSH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS63750138 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750139 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome 5 |
| RS63750140 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750141 |
MSH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colon cancer, Hereditary cancer-predisposing syndrome |
| RS63750143 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750144 |
MLH1
|
Health Risk |
Likely pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750146 |
ABCC6
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS63750149 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |