| RS104895305 |
MVK
|
Health Risk |
Likely pathogenic |
Hyperimmunoglobulin D with periodic fever, Deficiency of mevalonate kinase |
| RS104895306 |
MVK
|
Health Risk |
Pathogenic |
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria |
| RS104895307 |
MVK
|
Health Risk |
Pathogenic |
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria |
| RS104895308 |
MVK
|
Health Risk |
Pathogenic |
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria |
| RS104895311 |
MVK
|
Health Risk |
Pathogenic |
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria |
| RS104895313 |
MVK
|
Health Risk |
Conflicting classifications of pathogenicity |
Hyperimmunoglobulin D with periodic fever, Hyperimmunoglobulin D with periodic fever |
| RS104895315 |
MVK
|
Health Risk |
Pathogenic |
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria |
| RS104895316 |
MVK
|
Health Risk |
Likely pathogenic |
Hyperimmunoglobulin D with periodic fever, Retinal dystrophy |
| RS104895317 |
MVK
|
Health Risk |
Pathogenic |
Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever |
| RS104895318 |
MVK
|
Health Risk |
Conflicting classifications of pathogenicity |
Hyperimmunoglobulin D with periodic fever, Autoinflammatory syndrome |
| RS104895319 |
MVK
|
Health Risk |
Pathogenic |
Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever |
| RS104895321 |
MVK
|
Health Risk |
Pathogenic/Likely pathogenic |
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria |
| RS104895322 |
MVK
|
Health Risk |
Pathogenic |
Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever |
| RS104895323 |
MVK
|
Health Risk |
Pathogenic/Likely pathogenic |
Hyperimmunoglobulin D with periodic fever, Hyperimmunoglobulin D with periodic fever |
| RS104895324 |
MVK
|
Health Risk |
Pathogenic/Likely pathogenic |
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria |
| RS104895326 |
MVK
|
Health Risk |
Conflicting classifications of pathogenicity |
Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever |
| RS104895329 |
MVK
|
Health Risk |
Conflicting classifications of pathogenicity |
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria |
| RS104895332 |
MVK
|
Health Risk |
Pathogenic/Likely pathogenic |
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria |
| RS104895334 |
MVK
|
Health Risk |
Pathogenic |
Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever |
| RS104895335 |
MVK
|
Health Risk |
Pathogenic/Likely pathogenic |
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria |
| RS104895339 |
MVK
|
Health Risk |
Likely pathogenic |
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria |
| RS104895342 |
MVK
|
Health Risk |
Conflicting classifications of pathogenicity |
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria |
| RS104895352 |
MVK
|
Health Risk |
Pathogenic/Likely pathogenic |
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria |
| RS104895358 |
MVK
|
Health Risk |
Pathogenic/Likely pathogenic |
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria |
| RS104895360 |
MVK
|
Health Risk |
Pathogenic |
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria |
| RS104895362 |
MVK
|
Health Risk |
Likely pathogenic |
Porokeratosis 3, disseminated superficial actinic type |
| RS104895363 |
MVK
|
Health Risk |
Likely pathogenic |
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria |
| RS104895364 |
MVK
|
Health Risk |
Pathogenic/Likely pathogenic |
Hyperimmunoglobulin D with periodic fever, Autoinflammatory syndrome |
| RS104895366 |
MVK
|
Health Risk |
Pathogenic/Likely pathogenic |
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria |
| RS104895368 |
MVK
|
Health Risk |
Pathogenic/Likely pathogenic |
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria |
| RS104895369 |
MVK
|
Health Risk |
Pathogenic/Likely pathogenic |
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria |
| RS104895370 |
MVK
|
Health Risk |
Pathogenic |
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria |
| RS104895373 |
MVK
|
Health Risk |
Pathogenic |
Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever |
| RS104895380 |
MVK
|
Health Risk |
Conflicting classifications of pathogenicity |
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria |
| RS104895382 |
MVK
|
Health Risk |
Pathogenic/Likely pathogenic |
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria |
| RS104895389 |
NLRP3
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome |
| RS104895392 |
NLRP3
|
Health Risk |
Likely pathogenic |
Familial cold autoinflammatory syndrome 1, Familial cold autoinflammatory syndrome 1 |
| RS104895398 |
NLRP3
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome |
| RS104895418 |
PSTPIP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, PSTPIP1-related disorder |
| RS104895421 |
NOD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Blau syndrome, Autoinflammatory syndrome |
| RS104895422 |
NOD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Blau syndrome, Autoinflammatory syndrome |
| RS104895423 |
NOD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Blau syndrome, Autoinflammatory syndrome |
| RS104895425 |
NOD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Blau syndrome, Inflammatory bowel disease 1 |
| RS104895427 |
NOD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Blau syndrome, Yao syndrome |
| RS104895430 |
NOD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Blau syndrome, Inflammatory bowel disease 1 |
| RS104895431 |
NOD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Blau syndrome, Inflammatory bowel disease 1 |
| RS104895432 |
NOD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Blau syndrome, Inflammatory bowel disease 1 |
| RS104895434 |
NOD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Blau syndrome, Inflammatory bowel disease 1 |
| RS104895438 |
NOD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Blau syndrome, Inflammatory bowel disease 1 |
| RS104895443 |
NOD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Blau syndrome, Inflammatory bowel disease 1 |
| RS104895452 |
NOD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Blau syndrome, Inflammatory bowel disease 1 |
| RS104895454 |
NOD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Blau syndrome, Inflammatory bowel disease 1 |
| RS104895456 |
NOD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Blau syndrome, Inflammatory bowel disease 1 |
| RS104895457 |
NOD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Blau syndrome, Inflammatory bowel disease 1 |
| RS104895460 |
NOD2
|
Health Risk |
Pathogenic |
Blau syndrome, Blau syndrome |
| RS104895461 |
NOD2
|
Health Risk |
Likely pathogenic |
Blau syndrome, Regional enteritis |
| RS104895462 |
NOD2
|
Health Risk |
Pathogenic |
Blau syndrome, Regional enteritis |
| RS104895464 |
NOD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Blau syndrome, Inflammatory bowel disease 1 |
| RS104895467 |
NOD2
|
Health Risk |
Conflicting classifications of pathogenicity; association |
Blau syndrome, Inflammatory bowel disease 1 |
| RS104895469 |
NOD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Blau syndrome, Inflammatory bowel disease 1 |
| RS104895472 |
NOD2
|
Health Risk |
Pathogenic |
Blau syndrome, Blau syndrome |
| RS104895473 |
NOD2
|
Health Risk |
Pathogenic/Likely pathogenic |
Blau syndrome, Regional enteritis |
| RS104895475 |
NOD2
|
Health Risk |
Pathogenic |
Blau syndrome, Regional enteritis |
| RS104895476 |
NOD2
|
Health Risk |
Pathogenic |
Blau syndrome, Regional enteritis |
| RS104895477 |
NOD2
|
Health Risk |
Pathogenic |
Blau syndrome, Regional enteritis |
| RS104895478 |
NOD2
|
Health Risk |
Pathogenic |
Blau syndrome, Blau syndrome |
| RS104895479 |
NOD2
|
Health Risk |
Pathogenic/Likely pathogenic |
Blau syndrome, Regional enteritis |
| RS104895481 |
NOD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Blau syndrome, Regional enteritis |
| RS104895484 |
NOD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Blau syndrome, Inflammatory bowel disease 1 |
| RS104895486 |
NOD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Blau syndrome, Inflammatory bowel disease 1 |
| RS104895489 |
NOD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Blau syndrome, Yao syndrome |
| RS104895494 |
NOD2
|
Health Risk |
Pathogenic |
Blau syndrome, Regional enteritis |
| RS104895500 |
LPIN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Majeed syndrome, Autoinflammatory syndrome |
| RS104895502 |
NLRP7
|
Health Risk |
Pathogenic |
Hydatidiform mole, recurrent |
| RS104895503 |
NLRP7
|
Health Risk |
Likely pathogenic |
Hydatidiform mole, recurrent |
| RS104895504 |
NLRP7
|
Health Risk |
Pathogenic |
Hydatidiform mole, recurrent |
| RS104895505 |
NLRP7
|
Health Risk |
Pathogenic |
Hydatidiform mole, recurrent |
| RS104895506 |
NLRP7
|
Health Risk |
Pathogenic |
Hydatidiform mole, recurrent |
| RS104895512 |
NLRP7
|
Health Risk |
Pathogenic |
Hydatidiform mole, recurrent |
| RS104895524 |
NLRP7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hydatidiform mole, recurrent |
| RS104895525 |
NLRP7
|
Health Risk |
Pathogenic |
Hydatidiform mole, recurrent |
| RS104895526 |
NLRP7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hydatidiform mole, recurrent |
| RS104895529 |
NLRP7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hydatidiform mole, recurrent |
| RS104895530 |
NLRP7
|
Health Risk |
Pathogenic |
Hydatidiform mole, recurrent |
| RS104895547 |
NLRP7
|
Health Risk |
Pathogenic |
Hydatidiform mole, recurrent |
| RS104895548 |
NLRP7
|
Health Risk |
Pathogenic |
Hydatidiform mole, recurrent |
| RS104895549 |
NLRP7
|
Health Risk |
Pathogenic |
Hydatidiform mole, recurrent |
| RS104895553 |
NLRP7
|
Health Risk |
Pathogenic |
Hydatidiform mole, recurrent |
| RS104895554 |
NLRP7
|
Health Risk |
Pathogenic |
Hydatidiform mole, recurrent |
| RS104895564 |
NLRP12
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome |
| RS104895565 |
NLRP12
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome |
| RS104895566 |
NLRP12
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cold autoinflammatory syndrome 2, NLRP12-related disorder |
| RS104895570 |
NLRP12
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome |
| RS1048990 |
PSMA6
|
Health Risk |
Benign; risk factor |
Myocardial infarction, susceptibility to |
| RS1049041921 |
CAMTA1
|
Health Risk |
Likely pathogenic |
— |
| RS1049067352 |
SETD5
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1049082567 |
PNPT1
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 70, Combined oxidative phosphorylation defect type 13 |
| RS1049091691 |
COL9A1
|
Health Risk |
Pathogenic |
COL9A1-related disorder, COL9A1-related disorder |
| RS1049122968 |
ANO10
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1049128278 |
KCNK4
|
Health Risk |
Conflicting classifications of pathogenicity |
— |