| RS2103865151 |
MSH2
|
Health Risk |
Pathogenic |
Carcinoma of colon, Carcinoma of colon |
| RS2103865247 |
MSH2
|
Health Risk |
Pathogenic |
Carcinoma of colon, Carcinoma of colon |
| RS2103866356 |
SPTBN1
|
Health Risk |
Pathogenic |
SPTBN1-related disorder, SPTBN1-related disorder |
| RS2103866400 |
SPTBN1
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2103868483 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome 1, Lynch syndrome 1 |
| RS2103872773 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2103872868 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS2103875094 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS2103878331 |
MSH2
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2103878687 |
MSH2
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2103879195 |
MSH2
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2103882055 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS2103889249 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2103889832 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2103889898 |
ALMS1
|
Health Risk |
Likely pathogenic |
Leber congenital amaurosis, Leber congenital amaurosis |
| RS2103889971 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2103890652 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2103890894 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2103891180 |
ALMS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Alstrom syndrome, Cardiovascular phenotype |
| RS2103891188 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2103891827 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2103892164 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2103892422 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Retinal dystrophy |
| RS2103892558 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2103893216 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2103893595 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2103893636 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2103893808 |
ALMS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Alstrom syndrome, Cardiovascular phenotype |
| RS2103894102 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2103895390 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2103895650 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2103895712 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2103898844 |
SPTBN1
|
Health Risk |
Likely pathogenic |
— |
| RS2103914962 |
PREPL
|
Health Risk |
Likely pathogenic |
Myasthenic syndrome, congenital |
| RS2103925424 |
PREPL
|
Health Risk |
Pathogenic |
Myasthenic syndrome, congenital |
| RS2103925559 |
SPTBN1
|
Health Risk |
Pathogenic |
Pervasive developmental disorder, Intellectual disability |
| RS2103930478 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2103930689 |
PKDCC
|
Health Risk |
Likely pathogenic |
— |
| RS2103932294 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS2103932373 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2103935655 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2103936382 |
ST3GAL5
|
Health Risk |
Likely pathogenic |
GM3 synthase deficiency, GM3 synthase deficiency |
| RS2103936997 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS2103938644 |
SPTBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
SPTBN1-related disorder, SPTBN1-related disorder |
| RS2103940834 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2103941902 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Gastric cancer |
| RS2103941957 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome 5, Lynch syndrome 5 |
| RS2103942370 |
SPTBN1
|
Health Risk |
Likely pathogenic |
Developmental delay, impaired speech |
| RS2103943939 |
MSH6
|
Health Risk |
Pathogenic |
Gastric cancer, Gastric cancer |
| RS2103953112 |
WDPCP
|
Health Risk |
Pathogenic |
Heart defect - tongue hamartoma - polysyndactyly syndrome, Bardet-Biedl syndrome 15 |
| RS2103954534 |
WDPCP
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2103959087 |
ST3GAL5
|
Health Risk |
Pathogenic |
GM3 synthase deficiency, GM3 synthase deficiency |
| RS2103961819 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Cardiovascular phenotype |
| RS2103966533 |
TTC7A
|
Health Risk |
Likely pathogenic |
Gastrointestinal defect and immunodeficiency syndrome, Gastrointestinal defect and immunodeficiency syndrome |
| RS2103974611 |
MSH2
|
Health Risk |
Pathogenic |
— |
| RS2103974901 |
MSH2
|
Health Risk |
Pathogenic |
Carcinoma of colon, Carcinoma of colon |
| RS2103974925 |
MSH2
|
Health Risk |
Pathogenic |
Carcinoma of colon, Carcinoma of colon |
| RS2103976941 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS2103977605 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2103978009 |
REL
|
Health Risk |
Pathogenic |
Immunodeficiency 92, Immunodeficiency 92 |
| RS2103978347 |
REL
|
Health Risk |
Pathogenic |
Immunodeficiency 92, Immunodeficiency 92 |
| RS2103978746 |
MSH2
|
Health Risk |
Pathogenic |
— |
| RS2103978884 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2103982656 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2103985797 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2103986758 |
PREPL
|
Health Risk |
Pathogenic |
Myasthenic syndrome, congenital |
| RS2103990288 |
FSHR
|
Health Risk |
Likely pathogenic |
Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS2103990623 |
FSHR
|
Health Risk |
Pathogenic |
Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS2103991776 |
FSHR
|
Health Risk |
Likely pathogenic |
Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS2103993244 |
EIF2AK3
|
Health Risk |
Pathogenic |
Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS2103994032 |
FSHR
|
Health Risk |
Likely pathogenic |
Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS2104016448 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS2104016493 |
MSH2
|
Health Risk |
Pathogenic |
— |
| RS2104016532 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2104016560 |
MSH2
|
Health Risk |
Pathogenic |
Carcinoma of colon, Carcinoma of colon |
| RS2104017390 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2104017602 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS2104018712 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2104019844 |
TTC7A
|
Health Risk |
Likely pathogenic |
Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1 |
| RS2104019974 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS2104022424 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome 1, Lynch syndrome 1 |
| RS2104023773 |
MSH2
|
Health Risk |
Pathogenic |
Endometrial carcinoma, Lynch syndrome |
| RS2104025532 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS2104026165 |
PNPT1
|
Health Risk |
Pathogenic |
Spinocerebellar ataxia type 25, Spinocerebellar ataxia type 25 |
| RS2104028363 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2104029288 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2104031033 |
MSH2
|
Health Risk |
Pathogenic |
— |
| RS2104031209 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS2104033787 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104034341 |
MSH2
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2104035291 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2104035729 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2104038061 |
PNPT1
|
Health Risk |
Pathogenic |
Combined oxidative phosphorylation defect type 13, Combined oxidative phosphorylation defect type 13 |
| RS2104038999 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2104041341 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2104042264 |
MSH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Mismatch repair cancer syndrome 2 |
| RS2104051740 |
REEP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia, Hereditary spastic paraplegia |
| RS2104054009 |
REEP1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS2104054109 |
REEP1
|
Health Risk |
Pathogenic |
— |
| RS2104054912 |
REEP1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |