| RS72648975 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72648980 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiomyopathy |
| RS72648981 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72648989 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72648990 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS72648994 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS72648995 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS72648997 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72649848 |
WNK1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary sensory and autonomic |
| RS72649856 |
WNK1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary sensory and autonomic |
| RS72650008 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72650011 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Cardiomyopathy |
| RS72650019 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS72650020 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72650030 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Myopathy, myofibrillar |
| RS72650031 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiomyopathy |
| RS72650034 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiomyopathy |
| RS72650035 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72650036 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Early-onset myopathy with fatal cardiomyopathy, Myopathy |
| RS72650040 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72650057 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72650062 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS72650064 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS72650077 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72650080 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
6 conditions, 6 conditions |
| RS72650362 |
SLC4A4
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive proximal renal tubular acidosis, SLC4A4-related disorder |
| RS72650666 |
IL2RA
|
Health Risk |
Conflicting classifications of pathogenicity |
Immunodeficiency due to CD25 deficiency, IL2RA-related disorder |
| RS72650671 |
PTPN22
|
Health Risk |
Conflicting classifications of pathogenicity |
PTPN22-related disorder, PTPN22-related disorder |
| RS72650674 |
AIRE
|
Health Risk |
Conflicting classifications of pathogenicity |
Polyglandular autoimmune syndrome, type 1 |
| RS72650677 |
AIRE
|
Health Risk |
Conflicting classifications of pathogenicity |
Polyglandular autoimmune syndrome, type 1 |
| RS72650678 |
AIRE
|
Health Risk |
Conflicting classifications of pathogenicity |
Polyglandular autoimmune syndrome, type 1 |
| RS72650680 |
AIRE
|
Health Risk |
Conflicting classifications of pathogenicity |
Polyglandular autoimmune syndrome, type 1 |
| RS72650695 |
GIMAP5;GIMAP1-GIMAP5
|
Health Risk |
Conflicting classifications of pathogenicity |
Portal hypertension, noncirrhotic |
| RS72650697 |
ABCC6
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72650698 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72650699 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72650700 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72650701 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72650702 |
ABCC6
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72650717 |
WNK1
|
Health Risk |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C, Neuropathy |
| RS72650720 |
WNK1
|
Health Risk |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C, Neuropathy |
| RS72650763 |
WNK1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary sensory and autonomic |
| RS72650764 |
WNK1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary sensory and autonomic |
| RS72650768 |
WNK1
|
Health Risk |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C, Neuropathy |
| RS72651613 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72651614 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae |
| RS72651615 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae |
| RS72651618 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta with normal sclerae, dominant form |
| RS72651619 |
COL1A1
|
Health Risk |
Pathogenic |
— |
| RS72651620 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta |
| RS72651621 |
COL1A1
|
Health Risk |
Pathogenic |
COL1A1-related disorder, Osteogenesis imperfecta type I |
| RS72651622 |
COL1A1
|
Health Risk |
Pathogenic |
— |
| RS72651623 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72651626 |
COL1A1
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS72651631 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, COL1A1-related disorder |
| RS72651632 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta |
| RS72651634 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta |
| RS72651635 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72651639 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72651640 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, COL1A1-related disorder |
| RS72651641 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type III |
| RS72651642 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae |
| RS72651643 |
COL1A1
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS72651644 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Thyroid cancer |
| RS72651645 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type III, Osteogenesis imperfecta type I |
| RS72651646 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72651647 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS72651648 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72651651 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72651653 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72651654 |
COL1A1
|
Health Risk |
Likely pathogenic |
— |
| RS72651657 |
COL1A1
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72651658 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta |
| RS72651659 |
COL1A1
|
Health Risk |
Pathogenic |
— |
| RS72651661 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta with normal sclerae, dominant form |
| RS72651663 |
COL1A1
|
Health Risk |
Pathogenic |
— |
| RS72651666 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72651667 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72651668 |
COL1A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Osteogenesis imperfecta type I, Cardiovascular phenotype |
| RS72653059 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS72653060 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, autosomal dominant |
| RS72653061 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS72653063 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial hypobetalipoproteinemia 1, Hypercholesterolemia |
| RS72653071 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial hypobetalipoproteinemia 1, Hypercholesterolemia |
| RS72653073 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial hypobetalipoproteinemia 1, Hypercholesterolemia |
| RS72653074 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, autosomal dominant |
| RS72653076 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, autosomal dominant |
| RS72653077 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS72653078 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, autosomal dominant |
| RS72653083 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS72653084 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, autosomal dominant |
| RS72653090 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS72653091 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, autosomal dominant |
| RS72653092 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS72653093 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS72653095 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS72653097 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial hypobetalipoproteinemia 1, Hypercholesterolemia |
| RS72653098 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, autosomal dominant |
| RS72653100 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, autosomal dominant |
| RS72653102 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, autosomal dominant |