| RS1553414029 |
MSH6
|
Health Risk |
Likely pathogenic |
Lynch syndrome 5, Lynch syndrome 5 |
| RS1553414058 |
MSH6
|
Health Risk |
Pathogenic |
— |
| RS1553414070 |
DNMT3A
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Meningioma |
| RS1553414071 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS1553414078 |
ALPL
|
Health Risk |
Pathogenic/Likely pathogenic |
Decreased circulating alkaline phosphatase activity, Adult hypophosphatasia |
| RS1553414079 |
ALPL
|
Health Risk |
Pathogenic |
Infantile hypophosphatasia, Hypophosphatasia |
| RS1553414092 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553414094 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Mismatch repair cancer syndrome 3 |
| RS1553414102 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1553414111 |
ALPL
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1553414131 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553414133 |
ALPL
|
Health Risk |
Pathogenic |
Infantile hypophosphatasia, Adult hypophosphatasia |
| RS1553414147 |
ALPL
|
Health Risk |
Conflicting classifications of pathogenicity |
Adult hypophosphatasia, Hypophosphatasia |
| RS1553414236 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colorectal neoplasms |
| RS1553414239 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome 5, Hereditary cancer-predisposing syndrome |
| RS1553414252 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553414327 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553414395 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS1553414406 |
DNMT3A
|
Health Risk |
Pathogenic |
Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS1553414413 |
DYSF
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B |
| RS1553414444 |
DNMT3A
|
Health Risk |
Likely pathogenic |
— |
| RS1553414488 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553414498 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS1553414502 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553414519 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553414544 |
MSH6
|
Health Risk |
Likely pathogenic |
— |
| RS1553414554 |
MSH6
|
Health Risk |
Pathogenic |
Lynch-like syndrome, Hereditary cancer-predisposing syndrome |
| RS1553414560 |
ALPL
|
Health Risk |
Pathogenic |
Infantile hypophosphatasia, Adult hypophosphatasia |
| RS1553414563 |
ALPL
|
Health Risk |
Pathogenic/Likely pathogenic |
Infantile hypophosphatasia, Adult hypophosphatasia |
| RS1553414578 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553414600 |
ALPL
|
Health Risk |
Pathogenic/Likely pathogenic |
Infantile hypophosphatasia, Decreased circulating alkaline phosphatase activity |
| RS1553414607 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS1553414611 |
ALPL
|
Health Risk |
Pathogenic/Likely pathogenic |
Infantile hypophosphatasia, Adult hypophosphatasia |
| RS1553414843 |
ALPL
|
Health Risk |
Pathogenic |
Infantile hypophosphatasia, Hypophosphatasia |
| RS1553414868 |
ALPL
|
Health Risk |
Pathogenic/Likely pathogenic |
Infantile hypophosphatasia, Hypophosphatasia |
| RS1553415035 |
ALPL
|
Health Risk |
Likely pathogenic |
Infantile hypophosphatasia, Infantile hypophosphatasia |
| RS1553415041 |
ALPL
|
Health Risk |
Pathogenic |
Infantile hypophosphatasia, Adult hypophosphatasia |
| RS1553415109 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy |
| RS1553415164 |
ALPL
|
Health Risk |
Likely pathogenic |
Decreased circulating alkaline phosphatase activity, Infantile hypophosphatasia |
| RS1553415211 |
DYSF
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1 |
| RS1553415233 |
DYSF
|
Health Risk |
Pathogenic/Likely pathogenic |
Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1 |
| RS1553415274 |
ATP6V1B1
|
Health Risk |
Pathogenic/Likely pathogenic |
Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness |
| RS1553415622 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy |
| RS1553416025 |
DYSF
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy |
| RS1553416039 |
DYSF
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS1553416071 |
DYSF
|
Health Risk |
Likely pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS1553416197 |
DYSF
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS1553416233 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS1553416787 |
ATP6V1B1
|
Health Risk |
Likely pathogenic |
Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness |
| RS1553416867 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Cardiovascular phenotype |
| RS1553416872 |
ALMS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS1553416989 |
LRPPRC
|
Health Risk |
Likely pathogenic |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type |
| RS1553417044 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS1553417206 |
EXOC6B
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1553418449 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS1553418457 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS1553418500 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS1553418505 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS1553418512 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS1553418513 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS1553418578 |
ALMS1
|
Health Risk |
Pathogenic |
— |
| RS1553418598 |
ALMS1
|
Health Risk |
Pathogenic |
— |
| RS1553418609 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS1553418638 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Cardiovascular phenotype |
| RS1553419743 |
ATP6V1B1
|
Health Risk |
Pathogenic/Likely pathogenic |
Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness |
| RS1553419751 |
ATP6V1B1
|
Health Risk |
Pathogenic |
Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness |
| RS1553419769 |
ATP6V1B1
|
Health Risk |
Pathogenic/Likely pathogenic |
Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness |
| RS1553420702 |
ATP6V1B1
|
Health Risk |
Pathogenic |
Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness |
| RS1553420738 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS1553420848 |
DYSF
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy |
| RS1553420858 |
DYSF
|
Health Risk |
Conflicting classifications of pathogenicity |
Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1 |
| RS1553421488 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS1553421496 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Cardiovascular phenotype |
| RS1553421626 |
ALMS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Alstrom syndrome, Retinal dystrophy |
| RS1553421657 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS1553421725 |
ALMS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS1553421739 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS1553421741 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS1553421752 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS1553421886 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Cardiovascular phenotype |
| RS1553422035 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS1553422709 |
DYSF
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1 |
| RS1553422723 |
DYSF
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B |
| RS1553423061 |
PROC
|
Health Risk |
Likely pathogenic |
— |
| RS1553423604 |
DNMT3A
|
Health Risk |
Pathogenic |
— |
| RS1553423955 |
PROC
|
Health Risk |
Likely pathogenic |
Thrombophilia due to protein C deficiency, autosomal dominant |
| RS1553424043 |
PROC
|
Health Risk |
Likely pathogenic |
Thrombophilia due to protein C deficiency, autosomal dominant |
| RS1553425459 |
PROC
|
Health Risk |
Likely pathogenic |
— |
| RS1553426462 |
POU3F3
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1553426479 |
POU3F3
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1553426678 |
RYR2
|
Health Risk |
Likely pathogenic |
Catecholaminergic polymorphic ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia |
| RS1553427894 |
DNMT3A
|
Health Risk |
Likely pathogenic |
— |
| RS1553431702 |
CALM2
|
Health Risk |
Pathogenic |
Long QT syndrome 15, Long QT syndrome 15 |
| RS1553431711 |
CALM2
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome 1, Inborn genetic diseases |
| RS1553433412 |
TPRKB
|
Health Risk |
Conflicting classifications of pathogenicity |
Galloway-Mowat syndrome 5, Nephrotic syndrome |
| RS1553433429 |
FANCL
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group L, Fanconi anemia complementation group L |
| RS1553435610 |
FANCL
|
Health Risk |
Pathogenic/Likely pathogenic |
Fanconi anemia, Fanconi anemia complementation group L |
| RS1553436217 |
LCT
|
Health Risk |
Likely pathogenic |
— |
| RS1553436865 |
TMEM127
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS1553436874 |
TMEM127
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |