| RS869025466 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS869025467 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS869025468 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary familial hypertrophic cardiomyopathy, Left ventricular noncompaction 10 |
| RS869025469 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS869025470 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS869025477 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS869025483 |
MYH7
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869025485 |
MYL3
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS869025486 |
MYL3
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS869025492 |
NEXN
|
Health Risk |
Conflicting classifications of pathogenicity |
Left ventricular noncompaction cardiomyopathy, Cardiovascular phenotype |
| RS869025493 |
NOTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Ehlers-Danlos syndrome, type 3 |
| RS869025494 |
NOTCH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5 |
| RS869025495 |
NPHS2
|
Health Risk |
Pathogenic/Likely pathogenic |
Proteinuria, Nephrotic syndrome |
| RS869025496 |
PKP2
|
Health Risk |
Likely pathogenic |
Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype |
| RS869025498 |
PRKAG2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lethal congenital glycogen storage disease of heart, Cardiomyopathy |
| RS869025501 |
RAF1
|
Health Risk |
Pathogenic/Likely pathogenic |
RASopathy, Noonan syndrome 5 |
| RS869025511 |
RYR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS869025513 |
RYR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS869025517 |
SCN5A
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiac arrest, Cardiac arrest |
| RS869025519 |
SCN5A
|
Health Risk |
Likely pathogenic |
Sick sinus syndrome, Sick sinus syndrome |
| RS869025520 |
SCN5A
|
Health Risk |
Pathogenic/Likely pathogenic |
Brugada syndrome, Brugada syndrome |
| RS869025522 |
SCN5A
|
Health Risk |
Pathogenic/Likely pathogenic |
Brugada syndrome, Brugada syndrome 1 |
| RS869025523 |
SCN5A
|
Health Risk |
Likely pathogenic |
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy |
| RS869025525 |
SKI
|
Health Risk |
Conflicting classifications of pathogenicity |
Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome |
| RS869025531 |
TGFB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS869025533 |
TGFB2
|
Health Risk |
Likely pathogenic |
Loeys-Dietz syndrome, Loeys-Dietz syndrome |
| RS869025535 |
TGFBR1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Disproportionate tall stature |
| RS869025537 |
TGFBR2
|
Health Risk |
Likely pathogenic |
Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS869025541 |
TRPC6
|
Health Risk |
Pathogenic/Likely pathogenic |
Nephrotic syndrome, Focal segmental glomerulosclerosis 2 |
| RS869025542 |
TSFM
|
Health Risk |
Conflicting classifications of pathogenicity |
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
| RS869025544 |
TTN
|
Health Risk |
Likely pathogenic |
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869025545 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869025546 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869025548 |
TTN
|
Health Risk |
Pathogenic |
Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy 9 |
| RS869025549 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869025550 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869025552 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869025553 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS869025554 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869025555 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869025556 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS869025557 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869025558 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869025559 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869025561 |
WT1
|
Health Risk |
Likely pathogenic |
Familial idiopathic steroid-resistant nephrotic syndrome, Familial idiopathic steroid-resistant nephrotic syndrome |
| RS869025562 |
LIMS2
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2W, Autosomal recessive limb-girdle muscular dystrophy type 2W |
| RS869025564 |
ECM1
|
Health Risk |
Pathogenic |
Lipid proteinosis, Lipid proteinosis |
| RS869025565 |
ECM1
|
Health Risk |
Pathogenic |
Lipid proteinosis, ECM1-related disorder |
| RS869025568 |
KIT
|
Health Risk |
Likely pathogenic |
Gastrointestinal stromal tumor, Gastrointestinal stromal tumor |
| RS869025569 |
SETD2
|
Health Risk |
Pathogenic |
Luscan-Lumish syndrome, Luscan-Lumish syndrome |
| RS869025570 |
SETD2
|
Health Risk |
Pathogenic |
Luscan-Lumish syndrome, Luscan-Lumish syndrome |
| RS869025571 |
SETD2
|
Health Risk |
Pathogenic |
Luscan-Lumish syndrome, Luscan-Lumish syndrome |
| RS869025572 |
SETD2
|
Health Risk |
Pathogenic |
Luscan-Lumish syndrome, Luscan-Lumish syndrome |
| RS869025573 |
NRAS
|
Health Risk |
Likely pathogenic |
Noonan syndrome 1, RASopathy |
| RS869025575 |
COX8A
|
Health Risk |
Pathogenic |
Mitochondrial complex IV deficiency, nuclear type 1 |
| RS869025576 |
MSMO1
|
Health Risk |
Pathogenic |
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, Microcephaly-congenital cataract-psoriasiform dermatitis syndrome |
| RS869025577 |
MSMO1
|
Health Risk |
Pathogenic |
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, Microcephaly-congenital cataract-psoriasiform dermatitis syndrome |
| RS869025578 |
PGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal recessive 42 |
| RS869025579 |
PGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal recessive 42 |
| RS869025580 |
PGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal recessive 42 |
| RS869025581 |
PGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal recessive 42 |
| RS869025582 |
ZNF687
|
Health Risk |
Pathogenic |
Paget disease of bone 6, Paget disease of bone 6 |
| RS869025583 |
CCDC115
|
Health Risk |
Pathogenic |
CCDC115-CDG, Congenital disorders of glycosylation type II |
| RS869025584 |
IDUA
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis type 1, Hurler syndrome |
| RS869025585 |
NCF4
|
Health Risk |
Pathogenic |
Chronic granulomatous disease, Granulomatous disease |
| RS869025586 |
VMA12
|
Health Risk |
Pathogenic |
TMEM199-CDG, TMEM199-CDG |
| RS869025587 |
VMA12
|
Health Risk |
Pathogenic |
TMEM199-CDG, TMEM199-CDG |
| RS869025588 |
USP9X
|
Health Risk |
Pathogenic |
Intellectual disability, X-linked 99 |
| RS869025589 |
USP9X
|
Health Risk |
Pathogenic |
Intellectual disability, X-linked 99 |
| RS869025590 |
USP9X
|
Health Risk |
Pathogenic |
Intellectual disability, X-linked 99 |
| RS869025591 |
USP9X
|
Health Risk |
Pathogenic |
Intellectual disability, X-linked 99 |
| RS869025592 |
USP9X
|
Health Risk |
Pathogenic |
Intellectual disability, X-linked 99 |
| RS869025593 |
PRPS1
|
Health Risk |
Pathogenic |
Arts syndrome, Hearing loss |
| RS869025594 |
PRPS1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease X-linked recessive 5, Charcot-Marie-Tooth disease X-linked recessive 5 |
| RS869025596 |
PIEZO1
|
Health Risk |
Pathogenic |
Lymphatic malformation 6, Lymphatic malformation 6 |
| RS869025597 |
PIEZO1
|
Health Risk |
Pathogenic |
Lymphatic malformation 6, Lymphatic malformation 6 |
| RS869025598 |
PIEZO1
|
Health Risk |
Pathogenic |
Lymphatic malformation 6, Lymphatic malformation 6 |
| RS869025599 |
PIEZO1
|
Health Risk |
Pathogenic |
Lymphatic malformation 6, Lymphatic malformation 6 |
| RS869025600 |
PIEZO1
|
Health Risk |
Pathogenic |
Lymphatic malformation 6, Lymphatic malformation 6 |
| RS869025601 |
PIEZO1
|
Health Risk |
Pathogenic |
Lymphatic malformation 6, Lymphatic malformation 6 |
| RS869025602 |
LYRM7
|
Health Risk |
Pathogenic |
Mitochondrial complex III deficiency nuclear type 8, Mitochondrial complex III deficiency nuclear type 8 |
| RS869025603 |
LYRM7
|
Health Risk |
Pathogenic |
Mitochondrial complex III deficiency nuclear type 8, Mitochondrial complex III deficiency nuclear type 8 |
| RS869025604 |
LYRM7
|
Health Risk |
Likely pathogenic |
Mitochondrial complex III deficiency nuclear type 8, Mitochondrial complex III deficiency nuclear type 8 |
| RS869025605 |
LYRM7
|
Health Risk |
Pathogenic |
Mitochondrial complex III deficiency nuclear type 8, Mitochondrial complex III deficiency nuclear type 8 |
| RS869025606 |
BRAF
|
Health Risk |
Pathogenic |
Cardio-facio-cutaneous syndrome, Cardio-facio-cutaneous syndrome |
| RS869025608 |
MAP2K1
|
Health Risk |
Pathogenic |
Cardio-facio-cutaneous syndrome, Melorheostosis |
| RS869025609 |
TUBB8
|
Health Risk |
Pathogenic |
Oocyte maturation defect 2, Oocyte maturation defect 2 |
| RS869025610 |
TUBB8
|
Health Risk |
Pathogenic |
Oocyte maturation defect 2, Oocyte maturation defect 2 |
| RS869025611 |
TUBB8
|
Health Risk |
Pathogenic |
Oocyte maturation defect 2, Oocyte maturation defect 2 |
| RS869025612 |
TUBB8
|
Health Risk |
Pathogenic |
Oocyte maturation defect 2, Oocyte maturation defect 2 |
| RS869025613 |
BMPR1B
|
Health Risk |
Pathogenic |
Brachydactyly type A1D, Brachydactyly type A1D |
| RS869025614 |
BMPR1B
|
Health Risk |
Pathogenic |
Brachydactyly type A1D, Brachydactyly type A1D |
| RS869025615 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS869025616 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Pheochromocytoma |
| RS869025617 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS869025618 |
VHL
|
Health Risk |
Pathogenic/Likely pathogenic |
Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS869025619 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS869025620 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025621 |
VHL
|
Health Risk |
Pathogenic/Likely pathogenic |
Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS869025622 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |