| RS730880018 |
HFM1
|
Health Risk |
Pathogenic |
Premature ovarian failure 9, Premature ovarian failure 9 |
| RS730880022 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS730880023 |
DSP
|
Health Risk |
Pathogenic |
Lethal acantholytic epidermolysis bullosa, Lethal acantholytic epidermolysis bullosa |
| RS730880024 |
DSP
|
Health Risk |
Pathogenic/Likely pathogenic |
Lethal acantholytic epidermolysis bullosa, Arrhythmogenic right ventricular dysplasia 8 |
| RS730880025 |
TUBA4A
|
Health Risk |
Likely pathogenic |
Amyotrophic lateral sclerosis type 22, Amyotrophic lateral sclerosis type 22 |
| RS730880026 |
TUBA4A
|
Health Risk |
Pathogenic |
Amyotrophic lateral sclerosis type 22, Amyotrophic lateral sclerosis type 22 |
| RS730880027 |
TUBA4A
|
Health Risk |
Pathogenic |
Amyotrophic lateral sclerosis type 22, Amyotrophic lateral sclerosis type 22 |
| RS730880029 |
TUBA4A
|
Health Risk |
Pathogenic |
Amyotrophic lateral sclerosis type 22, Amyotrophic lateral sclerosis type 22 |
| RS730880030 |
CHCHD10
|
Health Risk |
Pathogenic/Likely pathogenic |
Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 |
| RS730880031 |
CHCHD10
|
Health Risk |
Pathogenic |
Lower motor neuron syndrome with late-adult onset, Autosomal dominant mitochondrial myopathy with exercise intolerance |
| RS730880033 |
CHCHD10
|
Health Risk |
Pathogenic |
Autosomal dominant mitochondrial myopathy with exercise intolerance, Autosomal dominant mitochondrial myopathy with exercise intolerance |
| RS730880034 |
BCOR
|
Health Risk |
Pathogenic |
Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome |
| RS730880043 |
AKAP9
|
Health Risk |
Likely pathogenic |
Long QT syndrome 11, Long QT syndrome 11 |
| RS730880052 |
APOB
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, autosomal dominant |
| RS730880054 |
BAG3
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Myofibrillar myopathy 6 |
| RS730880055 |
BAG3
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS730880056 |
CACNA1C
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome, Timothy syndrome |
| RS730880064 |
COL5A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome |
| RS730880066 |
COL5A2
|
Health Risk |
Conflicting classifications of pathogenicity |
Connective tissue disorder, Ehlers-Danlos syndrome |
| RS730880079 |
DSP
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS730880080 |
DSP
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiac arrest, Cardiomyopathy |
| RS730880081 |
DSP
|
Health Risk |
Pathogenic |
Primary familial hypertrophic cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS730880082 |
DSP
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiac arrest, Familial isolated arrhythmogenic right ventricular dysplasia |
| RS730880084 |
DSP
|
Health Risk |
Conflicting classifications of pathogenicity |
Left ventricular noncompaction cardiomyopathy, Cardiomyopathy |
| RS730880088 |
DSP
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS730880089 |
DSP
|
Health Risk |
Conflicting classifications of pathogenicity |
Ventricular fibrillation, paroxysmal familial |
| RS730880092 |
DSP
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS730880093 |
DSP
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS730880095 |
ELANE
|
Health Risk |
Likely pathogenic |
Cyclical neutropenia, Cyclical neutropenia |
| RS730880096 |
ENG
|
Health Risk |
Pathogenic/Likely pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS730880097 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS730880098 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS730880099 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections |
| RS730880100 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS730880101 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS730880102 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS730880103 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS730880104 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS730880105 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS730880106 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS730880107 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS730880108 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS730880114 |
JUP
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS730880116 |
KCNH2
|
Health Risk |
Pathogenic |
Long QT syndrome 2, Long QT syndrome |
| RS730880118 |
KCNH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome, Cardiovascular phenotype |
| RS730880125 |
LAMB2
|
Health Risk |
Pathogenic |
Pierson syndrome, Pierson syndrome |
| RS730880126 |
LAMP2
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Danon disease |
| RS730880128 |
LDB3
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS730880129 |
LDB3
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Myofibrillar myopathy 4 |
| RS730880130 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS730880131 |
LDLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholesterolemia, familial |
| RS730880141 |
MYBPC3
|
Health Risk |
Likely pathogenic |
— |
| RS730880143 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS730880147 |
MYH11
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm |
| RS730880150 |
MYH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Cardiovascular phenotype |
| RS730880156 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy |
| RS730880159 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS730880161 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS730880162 |
MYL3
|
Health Risk |
Likely pathogenic |
Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS730880164 |
MYLK
|
Health Risk |
Conflicting classifications of pathogenicity |
Loeys-Dietz syndrome, Aortic aneurysm |
| RS730880170 |
MYPN
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1KK |
| RS730880174 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS730880175 |
NPHS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Proteinuria, Finnish congenital nephrotic syndrome |
| RS730880176 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS730880179 |
PKP2
|
Health Risk |
Conflicting classifications of pathogenicity |
AV junctional rhythm, Ventricular tachycardia |
| RS730880182 |
RBM20
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1DD |
| RS730880184 |
RBM20
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1DD |
| RS730880187 |
RYR2
|
Health Risk |
Likely pathogenic |
Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS730880192 |
RYR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome, Cardiomyopathy |
| RS730880194 |
RYR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia |
| RS730880196 |
RYR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype |
| RS730880199 |
RYR2
|
Health Risk |
Likely pathogenic |
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy |
| RS730880201 |
RYR2
|
Health Risk |
Likely pathogenic |
Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS730880207 |
SCN5A
|
Health Risk |
Conflicting classifications of pathogenicity |
Brugada syndrome, Cardiac arrhythmia |
| RS730880210 |
SCN5A
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary familial hypertrophic cardiomyopathy, Brugada syndrome (shorter-than-normal QT interval) |
| RS730880211 |
SCN5A
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS730880214 |
SMAD3
|
Health Risk |
Pathogenic/Likely pathogenic |
Loeys-Dietz syndrome, Connective tissue disorder |
| RS730880215 |
SMAD3
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS730880216 |
SMAD3
|
Health Risk |
Conflicting classifications of pathogenicity |
Arterial dissection, Cutaneous polyarteritis nodosa |
| RS730880221 |
TGFB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Loeys-Dietz syndrome, Loeys-Dietz syndrome 4 |
| RS730880223 |
TGFBR1
|
Health Risk |
Pathogenic |
Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS730880224 |
TGFBR2
|
Health Risk |
Pathogenic |
— |
| RS730880225 |
TMEM43
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome, Arrhythmogenic right ventricular dysplasia 5 |
| RS730880229 |
TMPO
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Loeys-Dietz syndrome 2 |
| RS730880231 |
TNNI3
|
Health Risk |
Pathogenic |
Restrictive cardiomyopathy, Restrictive cardiomyopathy |
| RS730880239 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1G |
| RS730880241 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS730880242 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS730880243 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS730880244 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS730880245 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS730880246 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS730880250 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS730880251 |
BLM
|
Health Risk |
Conflicting classifications of pathogenicity |
Bloom syndrome, Hereditary cancer-predisposing syndrome |
| RS730880254 |
JPH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS730880255 |
GTPBP3
|
Health Risk |
Pathogenic |
Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23 |
| RS730880256 |
ACTG2
|
Health Risk |
Pathogenic/Likely pathogenic |
Visceral myopathy 1, Visceral myopathy 1 |
| RS730880257 |
KATNB1
|
Health Risk |
Pathogenic |
Lissencephaly 6 with microcephaly, Lissencephaly 6 with microcephaly |
| RS730880258 |
KATNB1
|
Health Risk |
Pathogenic |
Lissencephaly 6 with microcephaly, Lissencephaly 6 with microcephaly |
| RS730880259 |
KATNB1
|
Health Risk |
Pathogenic |
Lissencephaly 6 with microcephaly, Lissencephaly 6 with microcephaly |