| RS2104479515 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104480049 |
NPHP1
|
Health Risk |
Pathogenic |
Nephronophthisis, Nephronophthisis |
| RS2104480974 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104482609 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104483923 |
NPHP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Nephronophthisis, Joubert syndrome with renal defect |
| RS2104484216 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104484510 |
MSH6
|
Health Risk |
Pathogenic |
— |
| RS2104484932 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms |
| RS2104485089 |
MSH6
|
Health Risk |
Likely pathogenic |
Lynch syndrome 5, Lynch syndrome 5 |
| RS2104485613 |
TTC7A
|
Health Risk |
Pathogenic |
Multiple gastrointestinal atresias, Multiple gastrointestinal atresias |
| RS2104486214 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS2104486660 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms |
| RS2104498488 |
PAX8
|
Health Risk |
Likely pathogenic |
Hypothyroidism, congenital |
| RS2104503585 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2104503689 |
MSH6
|
Health Risk |
Pathogenic |
Carcinoma of colon, Carcinoma of colon |
| RS2104504315 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS2104504931 |
MSH6
|
Health Risk |
Pathogenic |
Endometrial carcinoma, Hereditary nonpolyposis colorectal neoplasms |
| RS2104505728 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2104506737 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104507417 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS2104507605 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104507637 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS2104508780 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104509127 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2104509253 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104509747 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2104510085 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Carcinoma of colon, Lynch syndrome 5 |
| RS2104521319 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS2104521349 |
MSH6
|
Health Risk |
Likely pathogenic |
Carcinoma of colon, Carcinoma of colon |
| RS2104521805 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome 5, Lynch syndrome 5 |
| RS2104524165 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104524646 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS2104524766 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2104525000 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS2104525825 |
MSH6
|
Health Risk |
Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104525933 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104526796 |
MSH6
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Breast and/or ovarian cancer |
| RS2104535143 |
MSH6
|
Health Risk |
Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104536268 |
MSH6
|
Health Risk |
Pathogenic |
Endometrial carcinoma, Endometrial carcinoma |
| RS2104536532 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104536807 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104537929 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104538620 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2104538773 |
MSH6
|
Health Risk |
Likely pathogenic |
Mismatch repair cancer syndrome 1, Mismatch repair cancer syndrome 1 |
| RS2104539547 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104540758 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2104541388 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2104541425 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2104542705 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome 5, Lynch syndrome 5 |
| RS2104542786 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS2104542818 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS2104542920 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104547230 |
MSH6
|
Health Risk |
Likely pathogenic |
Lynch syndrome, Lynch syndrome |
| RS2104548314 |
NPHP1
|
Health Risk |
Pathogenic |
Nephronophthisis, Nephronophthisis |
| RS2104548702 |
NPHP1
|
Health Risk |
Likely pathogenic |
Nephronophthisis 1, Nephronophthisis 1 |
| RS2104550873 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS2104552191 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2104552999 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Lynch syndrome 5, Endometrial carcinoma |
| RS2104553373 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome 5 |
| RS2104553788 |
NPHP1
|
Health Risk |
Pathogenic |
Nephronophthisis, Nephronophthisis |
| RS2104554610 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104555433 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104555974 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS2104556348 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104556388 |
MSH6
|
Health Risk |
Pathogenic |
Carcinoma of colon, Carcinoma of colon |
| RS2104557357 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104557860 |
MSH6
|
Health Risk |
Pathogenic |
— |
| RS2104558375 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome 5, Lynch syndrome 5 |
| RS2104558402 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2104560664 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2104561128 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104562671 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome 5, Lynch syndrome 5 |
| RS2104562914 |
REEP1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 31, Neuronopathy |
| RS2104563446 |
MSH6
|
Health Risk |
Pathogenic |
— |
| RS2104564057 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104564233 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104565388 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104565974 |
MSH6
|
Health Risk |
Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104566954 |
MSH6
|
Health Risk |
Pathogenic |
Endometrial carcinoma, Endometrial carcinoma |
| RS2104567084 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome 5 |
| RS2104568015 |
MSH6
|
Health Risk |
Likely pathogenic |
Endometrial carcinoma, Hereditary cancer-predisposing syndrome |
| RS2104568521 |
MSH6
|
Health Risk |
Pathogenic |
Gastric cancer, Gastric cancer |
| RS2104584644 |
ST3GAL5
|
Health Risk |
Pathogenic |
GM3 synthase deficiency, GM3 synthase deficiency |
| RS2104586653 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2104596456 |
CCDC88A
|
Health Risk |
Pathogenic |
PEHO-like syndrome, PEHO-like syndrome |
| RS2104610531 |
FBXO11
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2104610803 |
FBXO11
|
Health Risk |
Likely pathogenic |
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2104613193 |
FBXO11
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2104613345 |
FBXO11
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2104613365 |
FBXO11
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2104617143 |
GFPT1
|
Health Risk |
Pathogenic |
Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS2104617170 |
GFPT1
|
Health Risk |
Likely pathogenic |
— |
| RS2104621655 |
FBXO11
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2104622223 |
FBXO11
|
Health Risk |
Likely pathogenic |
— |
| RS2104626104 |
FBXO11
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2104632978 |
FBXO11
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2104635880 |
GFPT1
|
Health Risk |
Pathogenic |
Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS2104639109 |
GFPT1
|
Health Risk |
Pathogenic |
Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS2104647624 |
GFPT1
|
Health Risk |
Pathogenic |
Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS2104648140 |
GFPT1
|
Health Risk |
Likely pathogenic |
— |