| RS137854499 |
ABCA1
|
Health Risk |
Pathogenic |
Hypoalphalipoproteinemia, primary |
| RS137854501 |
ABCA1
|
Health Risk |
Likely pathogenic |
Tangier disease, Tangier disease |
| RS137854502 |
ABCA1
|
Health Risk |
Pathogenic |
Tangier disease, Tangier disease |
| RS137854503 |
LHX3
|
Health Risk |
Likely pathogenic |
Non-acquired combined pituitary hormone deficiency with spine abnormalities, Combined pituitary hormone deficiencies |
| RS137854504 |
LHX3
|
Health Risk |
Pathogenic |
Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities |
| RS137854505 |
LHX3
|
Health Risk |
Pathogenic |
Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities |
| RS137854506 |
LHX3
|
Health Risk |
Pathogenic |
Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities |
| RS137854508 |
NCF2
|
Health Risk |
Pathogenic/Likely pathogenic |
Granulomatous disease, chronic |
| RS137854521 |
ANO5
|
Health Risk |
Pathogenic |
Miyoshi muscular dystrophy 3, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS137854523 |
ANO5
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2L, ANO5-related disorder |
| RS137854524 |
ANO5
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2L, Miyoshi muscular dystrophy 3 |
| RS137854526 |
ANO5
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS137854527 |
ANO5
|
Health Risk |
Pathogenic |
Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS137854528 |
ANO5
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS137854529 |
ANO5
|
Health Risk |
Pathogenic |
Miyoshi muscular dystrophy 3, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS137854530 |
GNAS
|
Health Risk |
Pathogenic |
Pseudohypoparathyroidism, 8 conditions |
| RS137854531 |
GNAS
|
Health Risk |
Pathogenic |
Pseudohypoparathyroidism, Pseudohypoparathyroidism |
| RS137854532 |
GNAS
|
Health Risk |
Pathogenic |
Pseudohypoparathyroidism, Hereditary spastic paraplegia 4 |
| RS137854533 |
GNAS
|
Health Risk |
Pathogenic |
Pituitary adenoma 3, multiple types |
| RS137854534 |
GNAS
|
Health Risk |
Pathogenic |
Pseudohypoparathyroidism, Pseudohypoparathyroidism |
| RS137854535 |
GNAS
|
Health Risk |
Conflicting classifications of pathogenicity |
Pseudopseudohypoparathyroidism, Inborn genetic diseases |
| RS137854536 |
GNAS
|
Health Risk |
Pathogenic |
Pseudopseudohypoparathyroidism, Pseudopseudohypoparathyroidism |
| RS137854537 |
GNAS
|
Health Risk |
Conflicting classifications of pathogenicity |
PSEUDOHYPOPARATHYROIDISM, TYPE IA |
| RS137854538 |
GNAS
|
Health Risk |
Pathogenic |
Pseudohypoparathyroidism, Pseudohypoparathyroidism type I A |
| RS137854539 |
GNAS
|
Health Risk |
Pathogenic/Likely pathogenic |
Pseudohypoparathyroidism, Pseudopseudohypoparathyroidism |
| RS137854540 |
CTSA
|
Health Risk |
Likely pathogenic |
GALACTOSIALIDOSIS, LATE INFANTILE |
| RS137854541 |
CTSA
|
Health Risk |
Pathogenic/Likely pathogenic |
Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS137854542 |
CTSA
|
Health Risk |
Likely pathogenic |
Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS137854543 |
CTSA
|
Health Risk |
Pathogenic/Likely pathogenic |
Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS137854544 |
CTSA
|
Health Risk |
Pathogenic |
Combined deficiency of sialidase AND beta galactosidase, GALACTOSIALIDOSIS |
| RS137854546 |
CTSA
|
Health Risk |
Pathogenic |
GALACTOSIALIDOSIS, EARLY INFANTILE |
| RS137854547 |
CTSA
|
Health Risk |
Conflicting classifications of pathogenicity |
GALACTOSIALIDOSIS, EARLY INFANTILE |
| RS137854548 |
CTSA
|
Health Risk |
Pathogenic |
GALACTOSIALIDOSIS, LATE INFANTILE |
| RS137854549 |
CTSA
|
Health Risk |
Pathogenic |
GALACTOSIALIDOSIS, LATE INFANTILE |
| RS137854550 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS137854551 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS137854552 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS137854553 |
NF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurofibromatosis, type 1 |
| RS137854554 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS137854555 |
NF1
|
Health Risk |
Pathogenic |
Juvenile myelomonocytic leukemia, Neurofibromatosis |
| RS137854556 |
NF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurofibromatosis, type 1 |
| RS137854557 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS137854558 |
NF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurofibromatosis, type 1 |
| RS137854559 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS137854560 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS137854562 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS137854563 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, familial spinal |
| RS137854564 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS137854565 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS137854566 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS137854568 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Gardner syndrome, Familial adenomatous polyposis 1 |
| RS137854569 |
APC
|
Health Risk |
Pathogenic |
Gardner syndrome, Familial multiple polyposis syndrome |
| RS137854570 |
APC
|
Health Risk |
Pathogenic |
Gardner syndrome, Hereditary cancer-predisposing syndrome |
| RS137854571 |
APC
|
Health Risk |
Pathogenic |
Gastric cancer, Hereditary cancer-predisposing syndrome |
| RS137854572 |
APC
|
Health Risk |
Pathogenic |
BRAIN TUMOR-POLYPOSIS SYNDROME 2, Familial adenomatous polyposis 1 |
| RS137854573 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS137854574 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS137854575 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS137854576 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS137854577 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, BRAIN TUMOR-POLYPOSIS SYNDROME 2 |
| RS137854578 |
APC
|
Health Risk |
Pathogenic |
Hepatoblastoma, Hepatoblastoma |
| RS137854580 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Gardner syndrome, Familial adenomatous polyposis 1 |
| RS137854582 |
APC
|
Health Risk |
Pathogenic |
Gardner syndrome, Familial adenomatous polyposis 1 |
| RS137854583 |
APC
|
Health Risk |
Pathogenic |
Gardner syndrome, Hereditary cancer-predisposing syndrome |
| RS137854584 |
STK11
|
Health Risk |
Pathogenic |
Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS137854585 |
CYBB
|
Health Risk |
Likely pathogenic |
Granulomatous disease, chronic |
| RS137854586 |
CYBB
|
Health Risk |
Pathogenic |
Granulomatous disease, chronic |
| RS137854588 |
CYBB
|
Health Risk |
Pathogenic |
Granulomatous disease, chronic |
| RS137854589 |
CYBB
|
Health Risk |
Pathogenic |
Granulomatous disease, chronic |
| RS137854590 |
CYBB
|
Health Risk |
Pathogenic |
Granulomatous disease, chronic |
| RS137854591 |
CYBB
|
Health Risk |
Pathogenic |
Granulomatous disease, chronic |
| RS137854592 |
CYBB
|
Health Risk |
Pathogenic |
Granulomatous disease, chronic |
| RS137854593 |
CYBB
|
Health Risk |
Pathogenic |
Granulomatous disease, chronic |
| RS137854594 |
CYBB
|
Health Risk |
Likely pathogenic |
Granulomatous disease, chronic |
| RS137854595 |
CYBB
|
Health Risk |
Pathogenic |
Granulomatous disease, chronic |
| RS137854596 |
CYBB
|
Health Risk |
Pathogenic |
Granulomatous disease, chronic |
| RS137854598 |
CDKN2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial melanoma, Hereditary cancer-predisposing syndrome |
| RS137854599 |
CDKN2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Melanoma, cutaneous malignant |
| RS137854600 |
SCN5A
|
Health Risk |
Likely pathogenic |
Long QT syndrome 3, Long QT syndrome 3/6 |
| RS137854601 |
SCN5A
|
Health Risk |
Pathogenic/Likely pathogenic |
Long QT syndrome 3, Brugada syndrome 1 |
| RS137854602 |
SCN5A
|
Health Risk |
Conflicting classifications of pathogenicity |
Brugada syndrome 1, Primary familial hypertrophic cardiomyopathy |
| RS137854603 |
SCN5A
|
Health Risk |
Conflicting classifications of pathogenicity |
Brugada syndrome 1, Brugada syndrome |
| RS137854604 |
SCN5A
|
Health Risk |
Pathogenic/Likely pathogenic |
Ventricular fibrillation, paroxysmal familial |
| RS137854605 |
SCN5A
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome 3, Cardiovascular phenotype |
| RS137854606 |
SCN5A
|
Health Risk |
Pathogenic |
CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE |
| RS137854607 |
SCN5A
|
Health Risk |
Pathogenic/Likely pathogenic |
Progressive familial heart block, type 1A |
| RS137854609 |
SCN5A
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome 3, Congenital long QT syndrome |
| RS137854611 |
SCN5A
|
Health Risk |
Pathogenic |
Brugada syndrome 1, Brugada syndrome |
| RS137854612 |
SCN5A
|
Health Risk |
Pathogenic |
Sick sinus syndrome 1, Brugada syndrome 1 |
| RS137854613 |
SCN5A
|
Health Risk |
Pathogenic |
Sick sinus syndrome 1, Familial isolated arrhythmogenic right ventricular dysplasia |
| RS137854614 |
SCN5A
|
Health Risk |
Pathogenic |
Long QT syndrome 3, Congenital long QT syndrome |
| RS137854615 |
SCN5A
|
Health Risk |
Pathogenic |
Brugada syndrome 1, Brugada syndrome |
| RS137854616 |
SCN5A
|
Health Risk |
Conflicting classifications of pathogenicity |
Brugada syndrome 1, Brugada syndrome |
| RS137854617 |
SCN5A
|
Health Risk |
Pathogenic |
Brugada syndrome 1, Atrial fibrillation |
| RS137854618 |
SCN5A
|
Health Risk |
Pathogenic |
Dilated cardiomyopathy 1E, Brugada syndrome |
| RS137854619 |
SCN5A
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome 2/3, digenic |
| RS137854620 |
SCN5A
|
Health Risk |
Pathogenic |
Brugada syndrome 1, Brugada syndrome 1 |
| RS137854855 |
LTBP2
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS137854856 |
LTBP2
|
Health Risk |
Pathogenic |
Weill-Marchesani syndrome 3, Weill-Marchesani syndrome 1 |
| RS137854858 |
LTBP2
|
Health Risk |
Likely pathogenic |
Primary open angle glaucoma, Primary open angle glaucoma |