| RS2490251246 |
TGFBR1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2490270618 |
TGFBR1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2490270668 |
TGFBR1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2490277054 |
COL27A1
|
Health Risk |
Likely pathogenic |
— |
| RS2490277067 |
COL27A1
|
Health Risk |
Pathogenic |
— |
| RS2490277553 |
COL27A1
|
Health Risk |
Pathogenic |
— |
| RS2490280816 |
COL27A1
|
Health Risk |
Pathogenic |
— |
| RS2490280894 |
VPS13B
|
Health Risk |
Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS2490281130 |
VPS13B
|
Health Risk |
Pathogenic |
Cohen syndrome, Cohen syndrome |
| RS2490281178 |
VPS13B
|
Health Risk |
Pathogenic |
Cohen syndrome, Cohen syndrome |
| RS2490281771 |
VPS13B
|
Health Risk |
Pathogenic |
Cohen syndrome, Cohen syndrome |
| RS2490300278 |
COL27A1
|
Health Risk |
Likely pathogenic |
— |
| RS2490313636 |
TG
|
Health Risk |
Pathogenic |
— |
| RS2490314537 |
TG
|
Health Risk |
Pathogenic |
— |
| RS2490314665 |
TG
|
Health Risk |
Pathogenic/Likely pathogenic |
TG-related disorder, TG-related disorder |
| RS2490320436 |
KIF12
|
Health Risk |
Pathogenic |
— |
| RS2490348146 |
VCP
|
Health Risk |
Pathogenic |
Global developmental delay, Global developmental delay |
| RS2490350737 |
COL27A1
|
Health Risk |
Pathogenic |
— |
| RS2490351461 |
VCP
|
Health Risk |
Likely pathogenic |
Childhood Onset VCP-related Neurodevelopmental Disorder, Childhood Onset VCP-related Neurodevelopmental Disorder |
| RS2490352623 |
KIF12
|
Health Risk |
Likely pathogenic |
Cholestasis, progressive familial intrahepatic |
| RS2490354235 |
VPS13B
|
Health Risk |
Pathogenic |
Cohen syndrome, Cohen syndrome |
| RS2490355959 |
VCP
|
Health Risk |
Likely pathogenic |
Childhood Onset VCP-related Neurodevelopmental Disorder, Childhood Onset VCP-related Neurodevelopmental Disorder |
| RS2490360176 |
VCP
|
Health Risk |
Likely pathogenic |
— |
| RS2490360233 |
VCP
|
Health Risk |
Likely pathogenic |
Childhood Onset VCP-related Neurodevelopmental Disorder, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 |
| RS2490360271 |
VCP
|
Health Risk |
Likely pathogenic |
Childhood Onset VCP-related Neurodevelopmental Disorder, Childhood Onset VCP-related Neurodevelopmental Disorder |
| RS2490360302 |
VCP
|
Health Risk |
Likely pathogenic |
VCP-related disorder, VCP-related disorder |
| RS2490362753 |
TG
|
Health Risk |
Pathogenic |
— |
| RS2490365600 |
COL27A1
|
Health Risk |
Likely pathogenic |
Steel syndrome, Steel syndrome |
| RS2490370338 |
VCP
|
Health Risk |
Likely pathogenic |
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
| RS2490373112 |
ROR2
|
Health Risk |
Pathogenic |
— |
| RS2490373952 |
VCP
|
Health Risk |
Likely pathogenic |
— |
| RS2490379427 |
ANKS6
|
Health Risk |
Likely pathogenic |
Nephronophthisis 16, Thyroid cancer |
| RS2490379655 |
RUSC2
|
Health Risk |
Pathogenic |
— |
| RS2490381940 |
COL27A1
|
Health Risk |
Pathogenic |
— |
| RS2490390282 |
ANKS6
|
Health Risk |
Pathogenic |
Nephronophthisis 16, Nephronophthisis 16 |
| RS2490390946 |
NANS
|
Health Risk |
Likely pathogenic |
— |
| RS2490391562 |
ALG2
|
Health Risk |
Likely pathogenic |
ALG2-congenital disorder of glycosylation, ALG2-congenital disorder of glycosylation |
| RS2490392724 |
FANCG
|
Health Risk |
Likely pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2490393648 |
FANCG
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group G, Fanconi anemia complementation group G |
| RS2490393857 |
FANCG
|
Health Risk |
Likely pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2490395703 |
FANCG
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2490395865 |
FANCG
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group G, Fanconi anemia complementation group G |
| RS2490396654 |
FANCG
|
Health Risk |
Pathogenic |
Fanconi anemia complementation group G, Fanconi anemia |
| RS2490396692 |
FANCG
|
Health Risk |
Likely pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2490397362 |
FANCG
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2490398166 |
ALAD
|
Health Risk |
Likely pathogenic |
Porphobilinogen synthase deficiency, Porphobilinogen synthase deficiency |
| RS2490398313 |
FANCG
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2490398544 |
FANCG
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2490399665 |
FANCG
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2490401471 |
FANCG
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group G, Fanconi anemia complementation group G |
| RS2490401718 |
RUSC2
|
Health Risk |
Pathogenic |
— |
| RS2490401769 |
FANCG
|
Health Risk |
Likely pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2490402417 |
FANCG
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group G, Fanconi anemia complementation group G |
| RS2490402601 |
FANCG
|
Health Risk |
Pathogenic/Likely pathogenic |
Fanconi anemia, Fanconi anemia complementation group G |
| RS2490402695 |
FANCG
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2490402822 |
FANCG
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2490403470 |
FANCG
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group G, Fanconi anemia complementation group G |
| RS2490403576 |
ANKS6
|
Health Risk |
Pathogenic |
Nephronophthisis 16, Nephronophthisis 16 |
| RS2490403634 |
FANCG
|
Health Risk |
Pathogenic/Likely pathogenic |
Fanconi anemia complementation group G, Fanconi anemia |
| RS2490403647 |
FANCG
|
Health Risk |
Pathogenic/Likely pathogenic |
Fanconi anemia, Fanconi anemia complementation group G |
| RS2490403680 |
FANCG
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group G, Fanconi anemia complementation group G |
| RS2490404395 |
FANCG
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2490404478 |
FANCG
|
Health Risk |
Pathogenic/Likely pathogenic |
Fanconi anemia complementation group G, Fanconi anemia complementation group G |
| RS2490404555 |
FANCG
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group G, Fanconi anemia complementation group G |
| RS2490404732 |
RUSC2
|
Health Risk |
Pathogenic |
— |
| RS2490405029 |
RUSC2
|
Health Risk |
Pathogenic |
— |
| RS2490405997 |
RUSC2
|
Health Risk |
Pathogenic |
— |
| RS2490406268 |
RUSC2
|
Health Risk |
Likely pathogenic |
— |
| RS2490407204 |
COL27A1
|
Health Risk |
Pathogenic |
— |
| RS2490407241 |
FANCG
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group G, Fanconi anemia complementation group G |
| RS2490407836 |
FANCG
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group G, Fanconi anemia complementation group G |
| RS2490407906 |
FANCG
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2490408612 |
FANCG
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group G, Fanconi anemia complementation group G |
| RS2490408677 |
FANCG
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group G, Fanconi anemia complementation group G |
| RS2490408947 |
FANCG
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group G, Fanconi anemia complementation group G |
| RS2490409056 |
FANCG
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2490409243 |
RUSC2
|
Health Risk |
Likely pathogenic |
— |
| RS2490410471 |
FANCG
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group G, Fanconi anemia complementation group G |
| RS2490410515 |
FANCG
|
Health Risk |
Pathogenic |
Fanconi anemia complementation group G, Fanconi anemia complementation group G |
| RS2490410542 |
FANCG
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group G, Fanconi anemia complementation group G |
| RS2490410600 |
FANCG
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2490410610 |
ANKS6
|
Health Risk |
Pathogenic |
Nephronophthisis 16, Nephronophthisis 16 |
| RS2490411094 |
RUSC2
|
Health Risk |
Likely pathogenic |
— |
| RS2490411715 |
FANCG
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2490413005 |
RUSC2
|
Health Risk |
Pathogenic |
— |
| RS2490416706 |
RUSC2
|
Health Risk |
Pathogenic |
— |
| RS2490416737 |
RUSC2
|
Health Risk |
Pathogenic |
— |
| RS2490416981 |
RUSC2
|
Health Risk |
Pathogenic |
— |
| RS2490417765 |
RUSC2
|
Health Risk |
Pathogenic |
— |
| RS2490418074 |
RUSC2
|
Health Risk |
Pathogenic |
— |
| RS2490418081 |
RUSC2
|
Health Risk |
Pathogenic |
— |
| RS2490418448 |
COL27A1
|
Health Risk |
Pathogenic |
— |
| RS2490423643 |
ANKS6
|
Health Risk |
Pathogenic |
Nephronophthisis 16, Nephronophthisis 16 |
| RS2490427623 |
TG
|
Health Risk |
Likely pathogenic |
— |
| RS2490430133 |
TG
|
Health Risk |
Likely pathogenic |
— |
| RS2490430337 |
SET
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 58 |
| RS2490433063 |
SET
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 58 |
| RS2490435311 |
CEL
|
Health Risk |
Conflicting classifications of pathogenicity |
Maturity-onset diabetes of the young type 8, CEL-related disorder |
| RS2490435492 |
PIGO
|
Health Risk |
Pathogenic |
Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS2490436497 |
PIGO
|
Health Risk |
Pathogenic |
Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |