| RS2104219363 |
ALMS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Alstrom syndrome, Alstrom syndrome |
| RS2104223296 |
REEP1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS2104223760 |
REEP1
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia, Hereditary spastic paraplegia |
| RS2104224809 |
REEP1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia, Hereditary spastic paraplegia |
| RS2104225081 |
REEP1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS2104227716 |
MSH6
|
Health Risk |
Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS2104227755 |
MSH6
|
Health Risk |
Pathogenic |
Carcinoma of colon, Carcinoma of colon |
| RS2104228232 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS2104228754 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome 5, Lynch syndrome 5 |
| RS2104229154 |
CNGA3
|
Health Risk |
Pathogenic |
Achromatopsia 2, Achromatopsia 2 |
| RS2104229850 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2104229884 |
CNGA3
|
Health Risk |
Likely pathogenic |
Achromatopsia 2, Achromatopsia 2 |
| RS2104229897 |
CNGA3
|
Health Risk |
Likely pathogenic |
Achromatopsia 2, Achromatopsia 2 |
| RS2104230007 |
CNGA3
|
Health Risk |
Likely pathogenic |
— |
| RS2104231304 |
TTC7A
|
Health Risk |
Pathogenic |
Multiple gastrointestinal atresias, Multiple gastrointestinal atresias |
| RS2104233399 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2104233612 |
TET3
|
Health Risk |
Likely pathogenic |
— |
| RS2104234030 |
TET3
|
Health Risk |
Likely pathogenic |
— |
| RS2104235566 |
CNGA3
|
Health Risk |
Likely pathogenic |
CNGA3-related retinopathy, Achromatopsia 2 |
| RS2104235623 |
CNGA3
|
Health Risk |
Likely pathogenic |
Achromatopsia 2, Achromatopsia 2 |
| RS2104236067 |
CNGA3
|
Health Risk |
Likely pathogenic |
Achromatopsia 2, Retinal dystrophy |
| RS2104237282 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Lynch syndrome 5 |
| RS2104238107 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2104238150 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS2104239639 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2104241415 |
MSH6
|
Health Risk |
Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS2104241530 |
MSH2
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2104241966 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS2104242036 |
MSH2
|
Health Risk |
Pathogenic |
Carcinoma of colon, Carcinoma of colon |
| RS2104242161 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2104242839 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS2104242889 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2104242942 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS2104243406 |
SUCLG1
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9 |
| RS2104243887 |
REEP1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS2104243903 |
REEP1
|
Health Risk |
Pathogenic |
— |
| RS2104243932 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2104244172 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2104244362 |
REEP1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS2104244515 |
REEP1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS2104244539 |
REEP1
|
Health Risk |
Likely pathogenic |
Neuronopathy, distal hereditary motor |
| RS2104244665 |
REEP1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS2104245141 |
SUCLG1
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9 |
| RS2104245397 |
CNGA3
|
Health Risk |
Likely pathogenic |
Achromatopsia 2, Achromatopsia 2 |
| RS2104246172 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2104246288 |
CNGA3
|
Health Risk |
Pathogenic |
— |
| RS2104246318 |
CNGA3
|
Health Risk |
Likely pathogenic |
Achromatopsia 2, Achromatopsia 2 |
| RS2104246464 |
CNGA3
|
Health Risk |
Likely pathogenic |
Achromatopsia 2, Achromatopsia 2 |
| RS2104246690 |
CNGA3
|
Health Risk |
Likely pathogenic |
Achromatopsia 2, Achromatopsia 2 |
| RS2104246962 |
CNGA3
|
Health Risk |
Pathogenic |
Achromatopsia 2, Achromatopsia 2 |
| RS2104247018 |
MSH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2104247035 |
CNGA3
|
Health Risk |
Likely pathogenic |
— |
| RS2104247156 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104247370 |
MSH2
|
Health Risk |
Pathogenic |
Carcinoma of colon, Lynch syndrome 1 |
| RS2104247562 |
CNGA3
|
Health Risk |
Likely pathogenic |
Achromatopsia 2, Achromatopsia 2 |
| RS2104248036 |
CNGA3
|
Health Risk |
Likely pathogenic |
— |
| RS2104248068 |
CNGA3
|
Health Risk |
Likely pathogenic |
Achromatopsia 2, Achromatopsia 2 |
| RS2104248132 |
CNGA3
|
Health Risk |
Likely pathogenic |
Achromatopsia 2, Achromatopsia 2 |
| RS2104248683 |
CNGA3
|
Health Risk |
Likely pathogenic |
Achromatopsia 2, Achromatopsia 2 |
| RS2104249119 |
CNGA3
|
Health Risk |
Pathogenic/Likely pathogenic |
Achromatopsia 2, Achromatopsia 2 |
| RS2104249574 |
CNGA3
|
Health Risk |
Likely pathogenic |
— |
| RS2104249738 |
CNGA3
|
Health Risk |
Likely pathogenic |
Achromatopsia 2, Achromatopsia 2 |
| RS2104249895 |
CNGA3
|
Health Risk |
Pathogenic |
Achromatopsia 2, Achromatopsia 2 |
| RS2104250058 |
CNGA3
|
Health Risk |
Likely pathogenic |
Achromatopsia 2, Retinal dystrophy |
| RS2104250161 |
CNGA3
|
Health Risk |
Pathogenic |
Achromatopsia, Retinal dystrophy |
| RS2104250253 |
CNGA3
|
Health Risk |
Likely pathogenic |
Achromatopsia 2, Achromatopsia 2 |
| RS2104252491 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2104252754 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS2104254486 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS2104270031 |
PREPL
|
Health Risk |
Pathogenic |
Myasthenic syndrome, congenital |
| RS2104272766 |
MSH2
|
Health Risk |
Pathogenic |
— |
| RS2104274481 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS2104275987 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS2104277427 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome 1, Lynch syndrome 1 |
| RS2104278985 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104282063 |
ST3GAL5
|
Health Risk |
Pathogenic |
GM3 synthase deficiency, GM3 synthase deficiency |
| RS2104283819 |
TMEM127
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma |
| RS2104285400 |
TMEM127
|
Health Risk |
Pathogenic |
Pheochromocytoma, Pheochromocytoma |
| RS2104287071 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104287651 |
TMEM127
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma |
| RS2104288018 |
TMEM127
|
Health Risk |
Pathogenic |
Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |
| RS2104288054 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2104290341 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS2104290462 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS2104290522 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome 5, Lynch syndrome 5 |
| RS2104291160 |
MSH6
|
Health Risk |
Likely pathogenic |
Endometrial carcinoma, Endometrial carcinoma |
| RS2104293218 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS2104296608 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2104297531 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104297840 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2104300003 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome 5 |
| RS2104300142 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104301665 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104302672 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome 5 |
| RS2104306720 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2104307293 |
TMEM127
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |
| RS2104307480 |
TMEM127
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma |
| RS2104307566 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2104308103 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104308313 |
TMEM127
|
Health Risk |
Pathogenic |
Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |