| RS180177263 |
AGXT
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type I |
| RS180177264 |
AGXT
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary hyperoxaluria, type I |
| RS180177265 |
AGXT
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type I |
| RS180177267 |
AGXT
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type I |
| RS180177268 |
AGXT
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type I |
| RS180177269 |
AGXT
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type I |
| RS180177270 |
AGXT
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type I |
| RS180177271 |
AGXT
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary hyperoxaluria, type I |
| RS180177272 |
AGXT
|
Health Risk |
Likely pathogenic |
Primary hyperoxaluria, type I |
| RS180177273 |
AGXT
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type I |
| RS180177276 |
AGXT
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type I |
| RS180177278 |
AGXT
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type I |
| RS180177279 |
AGXT
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type I |
| RS180177281 |
AGXT
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type I |
| RS180177285 |
AGXT
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type I |
| RS180177286 |
AGXT
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary hyperoxaluria, type I |
| RS180177287 |
AGXT
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type I |
| RS180177288 |
AGXT
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type I |
| RS180177289 |
AGXT
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type I |
| RS180177291 |
AGXT
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary hyperoxaluria, type I |
| RS180177292 |
AGXT
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary hyperoxaluria, type I |
| RS180177293 |
AGXT
|
Health Risk |
Likely pathogenic |
Primary hyperoxaluria, type I |
| RS180177294 |
AGXT
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type I |
| RS180177295 |
AGXT
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type I |
| RS180177296 |
AGXT
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type I |
| RS180177297 |
AGXT
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary hyperoxaluria, type I |
| RS180177298 |
AGXT
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary hyperoxaluria, type I |
| RS180177299 |
AGXT
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type I |
| RS180177300 |
AGXT
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type I |
| RS180177301 |
AGXT
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type I |
| RS180177302 |
AGXT
|
Health Risk |
Likely pathogenic |
Primary hyperoxaluria, type I |
| RS180177303 |
AGXT
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type I |
| RS180177304 |
GRHPR
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type II |
| RS180177305 |
GRHPR
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type II |
| RS180177307 |
GRHPR
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type II |
| RS180177308 |
GRHPR
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type II |
| RS180177309 |
GRHPR
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary hyperoxaluria, type II |
| RS180177311 |
GRHPR
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type II |
| RS180177312 |
GRHPR
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary hyperoxaluria, type II |
| RS180177313 |
GRHPR
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary hyperoxaluria, type II |
| RS180177314 |
GRHPR
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type II |
| RS180177315 |
GRHPR
|
Health Risk |
Likely pathogenic |
Primary hyperoxaluria, type II |
| RS180177316 |
GRHPR
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type II |
| RS180177317 |
GRHPR
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary hyperoxaluria, type II |
| RS180177318 |
GRHPR
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary hyperoxaluria, type II |
| RS180177319 |
GRHPR
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type II |
| RS180177320 |
GRHPR
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary hyperoxaluria, type II |
| RS180177321 |
GRHPR
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type II |
| RS180177322 |
GRHPR
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary hyperoxaluria, type II |
| RS180177323 |
GRHPR
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary hyperoxaluria, type II |
| RS180177324 |
GRHPR
|
Health Risk |
Likely pathogenic |
Primary hyperoxaluria, type II |
| RS180177325 |
GRHPR
|
Health Risk |
Likely pathogenic |
Primary hyperoxaluria, type II |
| RS180177327 |
VPS13B
|
Health Risk |
Pathogenic |
Cohen syndrome, Cohen syndrome |
| RS180177329 |
VPS13B
|
Health Risk |
Pathogenic |
Cohen syndrome, Inborn genetic diseases |
| RS180177354 |
VPS13B
|
Health Risk |
Pathogenic/Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS180177355 |
VPS13B
|
Health Risk |
Pathogenic/Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS180177356 |
VPS13B
|
Health Risk |
Pathogenic/Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS180177357 |
VPS13B
|
Health Risk |
Pathogenic/Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS180177358 |
VPS13B
|
Health Risk |
Pathogenic |
Cohen syndrome, Cohen syndrome |
| RS180177359 |
VPS13B
|
Health Risk |
Pathogenic/Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS180177360 |
VPS13B
|
Health Risk |
Pathogenic |
Cohen syndrome, Cohen syndrome |
| RS180177361 |
VPS13B
|
Health Risk |
Pathogenic |
— |
| RS180177362 |
VPS13B
|
Health Risk |
Pathogenic/Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS180177363 |
VPS13B
|
Health Risk |
Pathogenic |
Cohen syndrome, Cohen syndrome |
| RS180177364 |
VPS13B
|
Health Risk |
Pathogenic/Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS180177365 |
VPS13B
|
Health Risk |
Pathogenic/Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS180177366 |
VPS13B
|
Health Risk |
Pathogenic |
Cohen syndrome, Inborn genetic diseases |
| RS180177367 |
VPS13B
|
Health Risk |
Pathogenic |
— |
| RS180177368 |
VPS13B
|
Health Risk |
Pathogenic |
— |
| RS180177369 |
VPS13B
|
Health Risk |
Pathogenic |
— |
| RS180177370 |
VPS13B
|
Health Risk |
Conflicting classifications of pathogenicity |
Cohen syndrome, Cohen syndrome |
| RS180177371 |
VPS13B
|
Health Risk |
Pathogenic |
Cohen syndrome, Cohen syndrome |
| RS180177372 |
VPS13B
|
Health Risk |
Pathogenic |
— |
| RS180177373 |
VPS13B
|
Health Risk |
Pathogenic |
— |
| RS180177374 |
VPS13B
|
Health Risk |
Pathogenic |
Cohen syndrome, Cohen syndrome |
| RS180177430 |
NLRP3
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome |
| RS180177431 |
NLRP3
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cold autoinflammatory syndrome 1, Autoinflammatory syndrome |
| RS180177433 |
NLRP3
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome |
| RS180177435 |
NLRP3
|
Health Risk |
Likely pathogenic |
Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness |
| RS180177437 |
NLRP3
|
Health Risk |
Likely pathogenic |
Familial cold autoinflammatory syndrome 1, Familial cold autoinflammatory syndrome 1 |
| RS180177438 |
NLRP3
|
Health Risk |
Pathogenic |
Familial cold autoinflammatory syndrome 1, Familial cold autoinflammatory syndrome 1 |
| RS180177441 |
NLRP3
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome |
| RS180177442 |
NLRP3
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cold autoinflammatory syndrome 1, Autoinflammatory syndrome |
| RS180177445 |
NLRP3
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome |
| RS180177447 |
NLRP3
|
Health Risk |
Pathogenic |
Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome |
| RS180177449 |
NLRP3
|
Health Risk |
Likely pathogenic |
Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome |
| RS180177452 |
NLRP3
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness |
| RS180177456 |
NLRP3
|
Health Risk |
Pathogenic |
Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome |
| RS180177457 |
NLRP3
|
Health Risk |
Conflicting classifications of pathogenicity |
Cryopyrin associated periodic syndrome, Cryopyrin associated periodic syndrome |
| RS180177458 |
NLRP3
|
Health Risk |
Pathogenic |
Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome |
| RS180177459 |
NLRP3
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness |
| RS180177462 |
NLRP3
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness |
| RS180177463 |
NLRP3
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cold autoinflammatory syndrome 1, Autoinflammatory syndrome |
| RS180177465 |
NLRP3
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome |
| RS180177468 |
NLRP3
|
Health Risk |
Pathogenic |
Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome |
| RS180177469 |
NLRP3
|
Health Risk |
Pathogenic |
Familial cold autoinflammatory syndrome 1, Chronic infantile neurological |
| RS180177470 |
NLRP3
|
Health Risk |
Pathogenic |
Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness |
| RS180177473 |
NLRP3
|
Health Risk |
Likely pathogenic |
Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome |
| RS180177476 |
NLRP3
|
Health Risk |
Likely pathogenic |
Familial cold autoinflammatory syndrome 1, Familial cold autoinflammatory syndrome 1 |
| RS180177478 |
NLRP3
|
Health Risk |
Pathogenic |
Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome |