| RS1057517468 |
PEX1
|
Health Risk |
Pathogenic/Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1057517469 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1057517470 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B |
| RS1057517471 |
SLC26A2
|
Health Risk |
Likely pathogenic |
Atelosteogenesis type II, Achondrogenesis |
| RS1057517472 |
PEX1
|
Health Risk |
Pathogenic/Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B |
| RS1057517473 |
CPT2
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase II deficiency, severe infantile form |
| RS1057517474 |
SLC26A2
|
Health Risk |
Pathogenic |
Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II |
| RS1057517477 |
CPT2
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase II deficiency, neonatal form |
| RS1057517478 |
PEX1
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B |
| RS1057517479 |
PEX1
|
Health Risk |
Pathogenic/Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B |
| RS1057517480 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B |
| RS1057517481 |
PEX1
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1057517482 |
SLC26A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Achondrogenesis, type IB |
| RS1057517483 |
SLC26A2
|
Health Risk |
Likely pathogenic |
Achondrogenesis, type IB |
| RS1057517484 |
PEX1
|
Health Risk |
Pathogenic/Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B |
| RS1057517485 |
PEX1
|
Health Risk |
Pathogenic/Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1057517486 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B |
| RS1057517487 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1057517488 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1057517489 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1057517490 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B |
| RS1057517491 |
GJB2
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A |
| RS1057517492 |
CPT2
|
Health Risk |
Pathogenic/Likely pathogenic |
Carnitine palmitoyl transferase II deficiency, severe infantile form |
| RS1057517493 |
CPT2
|
Health Risk |
Pathogenic/Likely pathogenic |
Carnitine palmitoyl transferase II deficiency, severe infantile form |
| RS1057517494 |
CPT2
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase II deficiency, neonatal form |
| RS1057517495 |
SLC26A2
|
Health Risk |
Pathogenic |
Atelosteogenesis type II, Achondrogenesis |
| RS1057517496 |
SLC26A2
|
Health Risk |
Likely pathogenic |
Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II |
| RS1057517497 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1057517498 |
TMEM216
|
Health Risk |
Likely pathogenic |
Meckel syndrome, type 2 |
| RS1057517499 |
PEX1
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B |
| RS1057517500 |
PEX1
|
Health Risk |
Pathogenic/Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B |
| RS1057517501 |
PEX1
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1057517502 |
SLC26A2
|
Health Risk |
Likely pathogenic |
Atelosteogenesis type II, Achondrogenesis |
| RS1057517503 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B |
| RS1057517504 |
SLC26A2
|
Health Risk |
Pathogenic |
Achondrogenesis, type IB |
| RS1057517505 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1057517506 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1057517507 |
CPT2
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase II deficiency, severe infantile form |
| RS1057517508 |
GJB2
|
Health Risk |
Pathogenic |
Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A |
| RS1057517509 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B |
| RS1057517510 |
CPT2
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase II deficiency, myopathic form |
| RS1057517511 |
SLC26A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Diastrophic dysplasia, Achondrogenesis |
| RS1057517512 |
TMEM216
|
Health Risk |
Likely pathogenic |
Joubert syndrome 2, Meckel syndrome |
| RS1057517513 |
SLC26A2
|
Health Risk |
Likely pathogenic |
Atelosteogenesis type II, Diastrophic dysplasia |
| RS1057517514 |
SLC26A2
|
Health Risk |
Likely pathogenic |
Diastrophic dysplasia, Achondrogenesis |
| RS1057517515 |
CPT2
|
Health Risk |
Pathogenic/Likely pathogenic |
Carnitine palmitoyl transferase II deficiency, myopathic form |
| RS1057517517 |
CPT2
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase II deficiency, severe infantile form |
| RS1057517518 |
PEX1
|
Health Risk |
Pathogenic/Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1057517519 |
GJB2
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A |
| RS1057517520 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B |
| RS1057517521 |
GJB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A |
| RS1057517522 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B |
| RS1057517523 |
SLC26A2
|
Health Risk |
Likely pathogenic |
Atelosteogenesis type II, Diastrophic dysplasia |
| RS1057517524 |
SLC26A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II |
| RS1057517525 |
CPT2
|
Health Risk |
Pathogenic/Likely pathogenic |
Carnitine palmitoyl transferase II deficiency, myopathic form |
| RS1057517526 |
SLC26A2
|
Health Risk |
Likely pathogenic |
Diastrophic dysplasia, Achondrogenesis |
| RS1057517528 |
TMEM216
|
Health Risk |
Likely pathogenic |
Meckel syndrome, type 2 |
| RS1057517529 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B |
| RS1057517530 |
SLC26A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Atelosteogenesis type II, Diastrophic dysplasia |
| RS1057517531 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1057517532 |
SLC26A2
|
Health Risk |
Pathogenic |
Atelosteogenesis type II, Achondrogenesis |
| RS1057517533 |
USH2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa 39, Usher syndrome type 2A |
| RS1057517539 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1057517541 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS1057517542 |
CDH1
|
Health Risk |
Likely pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS1057517543 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS1057517544 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS1057517549 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS1057517551 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms |
| RS1057517552 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Lynch syndrome 5, Hereditary cancer-predisposing syndrome |
| RS1057517553 |
APC
|
Health Risk |
Likely pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1057517557 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS1057517558 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 1, Colorectal cancer |
| RS1057517559 |
APC
|
Health Risk |
Likely pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS1057517561 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS1057517562 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS1057517563 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Breast-ovarian cancer |
| RS1057517565 |
BRCA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial |
| RS1057517566 |
BRCA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial |
| RS1057517568 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS1057517572 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS1057517574 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS1057517581 |
BMPR1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS1057517583 |
POLE
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, susceptibility to |
| RS1057517585 |
PALB2
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1057517586 |
RAD51D
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS1057517589 |
BARD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1057517590 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS1057517593 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome |
| RS1057517595 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS1057517596 |
CHEK2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS1057517600 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1057517602 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1057517609 |
POLE
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, susceptibility to |
| RS1057517611 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1057517613 |
POLE
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, susceptibility to |
| RS1057517617 |
MLH1
|
Health Risk |
Likely pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS1057517618 |
CDH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS1057517626 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS1057517629 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome 5, Hereditary cancer-predisposing syndrome |