| RS1765173859 |
GABRG2
|
Health Risk |
Likely pathogenic |
Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS1765174711 |
LMBRD1
|
Health Risk |
Pathogenic |
Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS1765175867 |
GABRG2
|
Health Risk |
Likely pathogenic |
EPILEPSY, CHILDHOOD ABSENCE |
| RS1765180391 |
SAR1B
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Chylomicron retention disease |
| RS1765186475 |
GABRG2
|
Health Risk |
Pathogenic |
EPILEPSY, CHILDHOOD ABSENCE |
| RS1765191304 |
H4C5
|
Health Risk |
Likely pathogenic |
Tessadori-Van Haaften neurodevelopmental syndrome 3, Tessadori-Van Haaften neurodevelopmental syndrome 3 |
| RS1765197280 |
ADGRV1
|
Health Risk |
Pathogenic |
Usher syndrome type 2A, Usher syndrome type 2A |
| RS1765200218 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765204324 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765221562 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1765224487 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765237683 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1765238670 |
APC
|
Health Risk |
Pathogenic |
— |
| RS1765254720 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765255282 |
APC
|
Health Risk |
Likely pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765256327 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765259490 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765265441 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS1765271867 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765298309 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1765316968 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765326033 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765350227 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765353894 |
ADGRV1
|
Health Risk |
Pathogenic |
— |
| RS1765356292 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765363480 |
ADGRV1
|
Health Risk |
Pathogenic |
— |
| RS1765366028 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765368437 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765368708 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765403726 |
NSD1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1765404132 |
APC
|
Health Risk |
Pathogenic |
— |
| RS1765409926 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1765424969 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1765433827 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765452304 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS1765456344 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765458794 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1765476401 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765488318 |
TREM2
|
Health Risk |
Pathogenic |
Frontotemporal dementia, Frontotemporal dementia |
| RS1765495276 |
APC
|
Health Risk |
Pathogenic |
Desmoid disease, hereditary |
| RS1765511794 |
APC
|
Health Risk |
Pathogenic |
Colorectal cancer, Familial adenomatous polyposis 1 |
| RS1765533502 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1765534642 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765536013 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765536690 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765537897 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765543308 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial multiple polyposis syndrome, Familial adenomatous polyposis 1 |
| RS1765561142 |
KCNQ5
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 46 |
| RS1765564648 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Neoplasm |
| RS1765576393 |
APC
|
Health Risk |
Likely pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765583281 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1765584708 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765602287 |
RAB23
|
Health Risk |
Pathogenic |
Carpenter syndrome, Carpenter syndrome |
| RS1765608519 |
RAB23
|
Health Risk |
Pathogenic |
Carpenter syndrome, Carpenter syndrome |
| RS1765615038 |
NSD1
|
Health Risk |
Pathogenic |
Sotos syndrome, Sotos syndrome |
| RS1765615722 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765618844 |
NSD1
|
Health Risk |
Pathogenic |
— |
| RS1765620003 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS1765620358 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765630072 |
CTNNA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1765648528 |
RPS10
|
Health Risk |
Likely pathogenic |
Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS1765655722 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1765664365 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1765672840 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765673686 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765677069 |
APC
|
Health Risk |
Pathogenic |
— |
| RS1765687695 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765705285 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765711003 |
KCNQ5
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS1765712615 |
NSD1
|
Health Risk |
Pathogenic |
— |
| RS1765713589 |
NSD1
|
Health Risk |
Pathogenic |
Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS1765716533 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765721326 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765726534 |
EYS
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS1765727233 |
EYS
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS1765728504 |
EYS
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS1765732008 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765738668 |
KCNQ5
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual disability, autosomal dominant 46 |
| RS1765745643 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1765760073 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765800063 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1765802748 |
NEK1
|
Health Risk |
Likely pathogenic |
Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS1765814665 |
MEGF10
|
Health Risk |
Pathogenic |
— |
| RS1765838341 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS1765845000 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1765870542 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1765881602 |
COL12A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2 |
| RS1765892950 |
RPS10
|
Health Risk |
Likely pathogenic |
— |
| RS1765909318 |
MEGF10
|
Health Risk |
Pathogenic |
MEGF10-related myopathy, MEGF10-related myopathy |
| RS1765909471 |
COL12A1
|
Health Risk |
Pathogenic |
Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2 |
| RS1765909899 |
CAST
|
Health Risk |
Likely pathogenic |
CAST-related disorder, CAST-related disorder |
| RS1765917272 |
MEGF10
|
Health Risk |
Pathogenic |
MEGF10-related myopathy, MEGF10-related myopathy |
| RS1765954963 |
COL12A1
|
Health Risk |
Likely pathogenic |
— |
| RS1765988972 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1766002955 |
EYS
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS1766006410 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS1766006937 |
EYS
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Retinitis pigmentosa 25 |
| RS1766009155 |
EYS
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS1766009662 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS1766011028 |
EYS
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinitis pigmentosa 25, Retinal dystrophy |