| RS267607258 |
MPV17
|
Health Risk |
Likely pathogenic |
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MPV17-related disorder |
| RS267607260 |
MPV17
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) |
| RS267607261 |
MPV17
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MPV17-related mitochondrial DNA maintenance defect |
| RS267607263 |
MPV17
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease |
| RS267607264 |
MPV17
|
Health Risk |
Conflicting classifications of pathogenicity |
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome |
| RS267607266 |
MPV17
|
Health Risk |
Pathogenic |
— |
| RS267607267 |
MPV17
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) |
| RS267607268 |
MPV17
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial DNA depletion syndrome, Mitochondrial DNA depletion syndrome |
| RS267607269 |
HBA2
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS267607276 |
CALM1
|
Health Risk |
Likely pathogenic |
Catecholaminergic polymorphic ventricular tachycardia 4, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS267607277 |
CALM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Catecholaminergic polymorphic ventricular tachycardia 4, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS267607280 |
ERCC5
|
Health Risk |
Pathogenic |
Xeroderma pigmentosum, group G |
| RS267607281 |
ERCC5
|
Health Risk |
Pathogenic |
Xeroderma pigmentosum, group G |
| RS267607291 |
HBB
|
Health Risk |
Pathogenic |
beta Thalassemia, beta Thalassemia |
| RS267607293 |
HBB
|
Health Risk |
Pathogenic |
beta Thalassemia, beta Thalassemia |
| RS267607295 |
HBB
|
Health Risk |
Pathogenic |
beta Thalassemia, beta Thalassemia |
| RS267607297 |
HBB
|
Health Risk |
Pathogenic/Likely pathogenic |
Beta zero thalassemia, beta Thalassemia |
| RS267607301 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS267607305 |
VWF
|
Health Risk |
Pathogenic |
Hereditary von Willebrand disease, VWF-related disorder |
| RS267607307 |
VWF
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS267607309 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 2, von Willebrand disease type 2 |
| RS267607312 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 1, von Willebrand disease type 1 |
| RS267607314 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 2, von Willebrand disease type 1 |
| RS267607316 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 1, von Willebrand disease type 1 |
| RS267607321 |
VWF
|
Health Risk |
Likely pathogenic |
Hereditary von Willebrand disease, von Willebrand disease type 2 |
| RS267607324 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 2, von Willebrand disease type 2 |
| RS267607325 |
VWF
|
Health Risk |
Pathogenic |
— |
| RS267607326 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 2, Hereditary von Willebrand disease |
| RS267607328 |
VWF
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary von Willebrand disease, von Willebrand disorder |
| RS267607331 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disorder, Hereditary von Willebrand disease |
| RS267607332 |
VWF
|
Health Risk |
Pathogenic/Likely pathogenic |
Von Willebrand disease type 2A, Hereditary von Willebrand disease |
| RS267607334 |
VWF
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary von Willebrand disease, von Willebrand disease type 2 |
| RS267607335 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 2, von Willebrand disease type 2 |
| RS267607337 |
VWF
|
Health Risk |
Pathogenic |
Hereditary von Willebrand disease, von Willebrand disease type 3 |
| RS267607340 |
VWF
|
Health Risk |
Likely pathogenic |
Hereditary von Willebrand disease, von Willebrand disease type 2 |
| RS267607343 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS267607344 |
VWF
|
Health Risk |
Pathogenic |
Hereditary von Willebrand disease, Hereditary von Willebrand disease |
| RS267607345 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 1, von Willebrand disease type 1 |
| RS267607347 |
VWF
|
Health Risk |
Likely pathogenic |
— |
| RS267607349 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 2, von Willebrand disease type 2 |
| RS267607352 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 2, von Willebrand disease type 2M |
| RS267607353 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 2, von Willebrand disease type 2M |
| RS267607355 |
VWF
|
Health Risk |
Pathogenic/Likely pathogenic |
von Willebrand disease type 1, von Willebrand disorder |
| RS267607358 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS267607359 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS267607363 |
VWF
|
Health Risk |
Pathogenic |
Hereditary von Willebrand disease, Hereditary von Willebrand disease |
| RS267607364 |
VWF
|
Health Risk |
Pathogenic/Likely pathogenic |
von Willebrand disorder, von Willebrand disease type 3 |
| RS267607365 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS267607366 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 3, von Willebrand disease type 1 |
| RS267607368 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS267607379 |
KRT10
|
Health Risk |
Pathogenic |
Epidermolytic hyperkeratosis 2B, autosomal recessive |
| RS267607381 |
KRT10
|
Health Risk |
Pathogenic |
Epidermolytic hyperkeratosis 2B, autosomal recessive |
| RS267607384 |
KRT10
|
Health Risk |
Pathogenic |
Congenital reticular ichthyosiform erythroderma, KRT10-related disorder |
| RS267607387 |
KRT12
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS267607389 |
KRT14
|
Health Risk |
Pathogenic |
Epidermolysis bullosa simplex, Epidermolysis bullosa simplex |
| RS267607390 |
KRT14
|
Health Risk |
Pathogenic |
Naegeli-Franceschetti-Jadassohn syndrome, Naegeli-Franceschetti-Jadassohn syndrome |
| RS267607391 |
KRT14
|
Health Risk |
Pathogenic |
Naegeli-Franceschetti-Jadassohn syndrome, Naegeli-Franceschetti-Jadassohn syndrome |
| RS267607398 |
KRT14
|
Health Risk |
Likely pathogenic |
— |
| RS267607400 |
KRT14
|
Health Risk |
Pathogenic |
— |
| RS267607401 |
KRT14
|
Health Risk |
Likely pathogenic |
— |
| RS267607406 |
KRT14
|
Health Risk |
Pathogenic |
Epidermolysis bullosa simplex, Epidermolysis bullosa simplex |
| RS267607412 |
KRT17
|
Health Risk |
Pathogenic |
— |
| RS267607420 |
KRT9
|
Health Risk |
Pathogenic |
— |
| RS267607421 |
KRT1
|
Health Risk |
Pathogenic |
Palmoplantar keratoderma, epidermolytic |
| RS267607422 |
KRT1
|
Health Risk |
Pathogenic |
Epidermolytic hyperkeratosis 1, Epidermolytic hyperkeratosis 1 |
| RS267607424 |
KRT1
|
Health Risk |
Pathogenic |
Diffuse nonepidermolytic palmoplantar keratoderma, Diffuse nonepidermolytic palmoplantar keratoderma |
| RS267607428 |
KRT1
|
Health Risk |
Likely pathogenic |
— |
| RS267607430 |
KRT1
|
Health Risk |
Likely pathogenic |
— |
| RS267607431 |
KRT3
|
Health Risk |
Pathogenic |
Corneal dystrophy, Meesmann |
| RS267607443 |
KRT5
|
Health Risk |
Pathogenic |
— |
| RS267607446 |
KRT5
|
Health Risk |
Pathogenic |
— |
| RS267607448 |
KRT5
|
Health Risk |
Conflicting classifications of pathogenicity |
Epidermolysis bullosa simplex, Koebner type |
| RS267607451 |
KRT5
|
Health Risk |
Pathogenic |
— |
| RS267607455 |
KRT5
|
Health Risk |
Pathogenic |
— |
| RS267607456 |
KRT5
|
Health Risk |
Pathogenic |
Epidermolysis bullosa simplex, Epidermolysis bullosa simplex |
| RS267607457 |
KRT5
|
Health Risk |
Pathogenic |
Epidermolysis bullosa simplex, Epidermolysis bullosa simplex |
| RS267607458 |
KRT5
|
Health Risk |
Pathogenic |
Epidermolysis bullosa simplex, Epidermolysis bullosa simplex |
| RS267607462 |
KRT6A
|
Health Risk |
Pathogenic |
— |
| RS267607463 |
KRT6A
|
Health Risk |
Pathogenic |
— |
| RS267607464 |
KRT6A
|
Health Risk |
Pathogenic |
Pachyonychia congenita 3, Pachyonychia congenita 3 |
| RS267607468 |
KRT6A
|
Health Risk |
Likely pathogenic |
Pachyonychia congenita 3, Pachyonychia congenita 3 |
| RS267607472 |
KRT6B
|
Health Risk |
Pathogenic |
Pachyonychia congenita 4, Pachyonychia congenita 4 |
| RS267607473 |
KRT6B
|
Health Risk |
Pathogenic/Likely pathogenic |
Pachyonychia congenita 4, Pachyonychia congenita 4 |
| RS267607474 |
KRT6C
|
Health Risk |
Pathogenic |
Focal palmoplantar keratoderma, Focal palmoplantar keratoderma |
| RS267607475 |
KRT6C
|
Health Risk |
Pathogenic |
Focal palmoplantar keratoderma, Focal palmoplantar keratoderma |
| RS267607477 |
KRT74
|
Health Risk |
Pathogenic |
Hypotrichosis 3, Hypotrichosis 3 |
| RS267607478 |
KRT74
|
Health Risk |
Pathogenic |
Autosomal dominant wooly hair, Autosomal dominant wooly hair |
| RS267607482 |
DES
|
Health Risk |
Pathogenic |
Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy |
| RS267607483 |
DES
|
Health Risk |
Pathogenic |
Primary dilated cardiomyopathy, Desmin-related myofibrillar myopathy |
| RS267607484 |
DES
|
Health Risk |
Pathogenic |
Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy |
| RS267607485 |
DES
|
Health Risk |
Pathogenic/Likely pathogenic |
Myofibrillar myopathy, Desmin-related myofibrillar myopathy |
| RS267607486 |
DES
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy |
| RS267607488 |
DES
|
Health Risk |
Conflicting classifications of pathogenicity |
Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy |
| RS267607490 |
DES
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary familial hypertrophic cardiomyopathy, Primary dilated cardiomyopathy |
| RS267607494 |
DES
|
Health Risk |
Conflicting classifications of pathogenicity |
Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy |
| RS267607495 |
DES
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Neuromuscular disease |
| RS267607499 |
DES
|
Health Risk |
Conflicting classifications of pathogenicity |
Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome |
| RS267607507 |
GFAP
|
Health Risk |
Conflicting classifications of pathogenicity |
Alexander disease, Alexander disease |
| RS267607508 |
GFAP
|
Health Risk |
Pathogenic |
Alexander disease, Alexander disease |
| RS267607509 |
GFAP
|
Health Risk |
Pathogenic/Likely pathogenic |
Alexander disease, Alexander disease |