| RS1553410866 |
LRPPRC
|
Health Risk |
Pathogenic |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type |
| RS1553410876 |
LRPPRC
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type |
| RS1553410995 |
LRPPRC
|
Health Risk |
Likely pathogenic |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type |
| RS1553411388 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553411391 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553411392 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome 5, Hereditary cancer-predisposing syndrome |
| RS1553411396 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS1553411409 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome 5 |
| RS1553411419 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colon cancer |
| RS1553411459 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553411468 |
XDH
|
Health Risk |
Likely pathogenic |
Hereditary xanthinuria type 1, Hereditary xanthinuria type 1 |
| RS1553411748 |
LRPPRC
|
Health Risk |
Pathogenic |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type |
| RS1553411751 |
LRPPRC
|
Health Risk |
Likely pathogenic |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type |
| RS1553411779 |
ALPL
|
Health Risk |
Pathogenic |
Infantile hypophosphatasia, Infantile hypophosphatasia |
| RS1553411890 |
ALPL
|
Health Risk |
Pathogenic |
Infantile hypophosphatasia, Infantile hypophosphatasia |
| RS1553411896 |
ALPL
|
Health Risk |
Likely pathogenic |
Hypophosphatasia, Hypophosphatasia |
| RS1553411920 |
ALPL
|
Health Risk |
Pathogenic |
Infantile hypophosphatasia, Infantile hypophosphatasia |
| RS1553412022 |
DNMT3A
|
Health Risk |
Pathogenic |
Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS1553412038 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS1553412041 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1553412064 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Endometrial carcinoma |
| RS1553412090 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome 5, Lynch syndrome 5 |
| RS1553412120 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Endometrial carcinoma |
| RS1553412129 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553412246 |
ALPL
|
Health Risk |
Likely pathogenic |
— |
| RS1553412268 |
ALPL
|
Health Risk |
Pathogenic/Likely pathogenic |
Infantile hypophosphatasia, Hypophosphatasia |
| RS1553412283 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553412289 |
MSH6
|
Health Risk |
Pathogenic |
— |
| RS1553412294 |
MSH6
|
Health Risk |
Pathogenic |
— |
| RS1553412310 |
ALPL
|
Health Risk |
Pathogenic |
Infantile hypophosphatasia, Infantile hypophosphatasia |
| RS1553412354 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553412366 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553412397 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553412409 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553412441 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome |
| RS1553412468 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553412485 |
DNMT3A
|
Health Risk |
Likely pathogenic |
Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS1553412495 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS1553412502 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS1553412538 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1553412609 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553412643 |
DYSF
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS1553412649 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1553412696 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS1553412720 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome 5 |
| RS1553412735 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553412742 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553412755 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1553412797 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS1553412804 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome 5 |
| RS1553412824 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome 5 |
| RS1553412826 |
DYSF
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS1553412835 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553412851 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1553412880 |
DNMT3A
|
Health Risk |
Pathogenic |
Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS1553412902 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms |
| RS1553412912 |
MSH6
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1553412960 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1553412966 |
MSH6
|
Health Risk |
Pathogenic |
Carcinoma of colon, Hereditary nonpolyposis colorectal neoplasms |
| RS1553412979 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome 5, Lynch syndrome 5 |
| RS1553413006 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome 5, Hereditary cancer-predisposing syndrome |
| RS1553413047 |
LRPPRC
|
Health Risk |
Likely pathogenic |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type |
| RS1553413050 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553413074 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553413086 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553413116 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS1553413138 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome 5, Lynch syndrome 5 |
| RS1553413155 |
ALPL
|
Health Risk |
Pathogenic/Likely pathogenic |
Infantile hypophosphatasia, Hypophosphatasia |
| RS1553413170 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Endometrial carcinoma |
| RS1553413178 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS1553413200 |
MSH6
|
Health Risk |
Pathogenic |
Colon adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS1553413253 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553413288 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Lynch syndrome 5 |
| RS1553413294 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553413305 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553413348 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1553413349 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553413355 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Endometrial carcinoma |
| RS1553413424 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553413427 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553413470 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome 5, Lynch syndrome 5 |
| RS1553413512 |
ALPL
|
Health Risk |
Pathogenic |
Infantile hypophosphatasia, Adult hypophosphatasia |
| RS1553413574 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1553413599 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553413640 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colon cancer |
| RS1553413655 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553413663 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553413673 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1553413693 |
MSH6
|
Health Risk |
Pathogenic |
Carcinoma of colon, Carcinoma of colon |
| RS1553413707 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS1553413710 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553413717 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553413732 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1553413784 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553413823 |
DNMT3A
|
Health Risk |
Pathogenic |
— |
| RS1553413844 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1553413897 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1553413985 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome 5, Lynch syndrome 5 |
| RS1553414010 |
MSH6
|
Health Risk |
Pathogenic |
Carcinoma of colon, Hereditary nonpolyposis colorectal neoplasms |
| RS1553414022 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |