Heritable thoracic aortic disease (HTAD)
|  |
ACTA2
|
Familial hypertrophic cardiomyopathy (FHCM)
|  |
ACTC1
|
Hereditary hemorrhagic telangiectasia type 2
|  |
ACVRL1
|
APC-associated polyposis
|  |
APC
|
Familial Hypercholesterolemia
|  |
APOB
|
Wilson disease
|  |
ATP7B
|
Dilated Cardiomyopathy
|  |
BAG3
|
Juvenile polyposis syndrome
|  |
BMPR1A
|
Hereditary breast and ovarian cancer syndrome
|  |
BRCA1
|
Hereditary breast and ovarian cancer syndrome
|  |
BRCA2
|
Biotinidase deficiency
|  |
BTD
|
Malignant hyperthermia
|  |
CACNA1S
|
Long QT syndrome
|  |
CALM1
|
Long QT syndrome
|  |
CALM2
|
Long QT syndrome
|  |
CALM3
|
Catecholaminergic polymorphic ventricular tachycardia (CPVT)
|  |
CASQ2
|
Heritable thoracic aortic disease (HTAD)
|  |
COL3A1
|
Ehlers-Danlos syndrome, type 4
|  |
COL3A1
|
Dilated Cardiomyopathy
|  |
DES
|
Familial arrhythmogenic right ventricular cardiomyopathy (ARVC)
|  |
DSC2
|
Familial arrhythmogenic right ventricular cardiomyopathy (ARVC)
|  |
DSG2
|
Familial arrhythmogenic right ventricular cardiomyopathy (ARVC)
|  |
DSP
|
Hereditary hemorrhagic telangiectasia type 1
|  |
ENG
|
Heritable thoracic aortic disease (HTAD)
|  |
FBN1
|
Marfan syndrome
|  |
FBN1
|
Dilated Cardiomyopathy
|  |
FLNC
|
Pompe disease
|  |
GAA
|
Fabry disease
|  |
GLA
|
Hereditary hemochromatosis
|  |
HFE
|
Maturity-Onset Diabetes of the Young (MODY)
|  |
HNF1A
|
Long QT syndrome
|  |
KCNH2
|
Long QT syndrome
|  |
KCNQ1
|
Familial Hypercholesterolemia
|  |
LDLR
|
Familial dilated cardiomyopathy
|  |
LMNA
|
Hereditary paraganglioma-pheochromocytoma syndrome
|  |
MAX
|
Multiple endocrine neoplasia
|  |
MEN1
|
Lynch syndrome
|  |
MLH1
|
Lynch syndrome
|  |
MSH2
|
Lynch syndrome
|  |
MSH6
|
MUTYH-associated polyposis
|  |
MUTYH
|
Familial dilated cardiomyopathy
|  |
MYBPC3
|
Familial hypertrophic cardiomyopathy (FHCM)
|  |
MYBPC3
|
Heritable thoracic aortic disease (HTAD)
|  |
MYH11
|
Familial hypertrophic cardiomyopathy (FHCM)
|  |
MYH7
|
Familial hypertrophic cardiomyopathy (FHCM)
|  |
MYL2
|
Familial hypertrophic cardiomyopathy (FHCM)
|  |
MYL3
|
Neurofibromatosis type 2
|  |
NF2
|
Ornithine transcarbamylase deficiency
|  |
OTC
|
Hereditary Breast Cancer
|  |
PALB2
|
Familial Hypercholesterolemia
|  |
PCSK9
|
Familial arrhythmogenic right ventricular cardiomyopathy (ARVC)
|  |
PKP2
|
Lynch syndrome
|  |
PMS2
|
Familial hypertrophic cardiomyopathy (FHCM)
|  |
PRKAG2
|
PTEN hamartoma tumor syndrome
|  |
PTEN
|
Retinoblastoma
|  |
RB1
|
Dilated Cardiomyopathy
|  |
RBM20
|
Multiple endocrine neoplasia
|  |
RET
|
Familial medullary thyroid carcinoma
|  |
RET
|
Leber Congenital Amaurosis/Early onset severe retinal dystrophy
|  |
RPE65
|
Malignant hyperthermia
|  |
RYR1
|
Catecholaminergic polymorphic ventricular tachycardia (CPVT)
|  |
RYR2
|
Brugada syndrome
|  |
SCN5A
|
Long QT syndrome
|  |
SCN5A
|
Paragangliomas
|  |
SDHAF2
|
Paragangliomas
|  |
SDHB
|
Paragangliomas
|  |
SDHC
|
Paragangliomas
|  |
SDHD
|
Heritable thoracic aortic disease (HTAD)
|  |
SMAD3
|
Loeys-Dietz syndrome
|  |
SMAD3
|
Juvenile polyposis syndrome
|  |
SMAD4
|
Peutz-Jeghers syndrome
|  |
STK11
|
Loeys-Dietz syndrome
|  |
TBFBR2
|
Heritable thoracic aortic disease (HTAD)
|  |
TGFBR1
|
Loeys-Dietz syndrome
|  |
TGFBR1
|
Marfan syndrome
|  |
TGFBR1
|
Heritable thoracic aortic disease (HTAD)
|  |
TGFBR2
|
Hereditary paraganglioma-pheochromocytoma syndrome
|  |
TMEM127
|
Familial arrhythmogenic right ventricular cardiomyopathy (ARVC)
|  |
TMEM43
|
Dilated Cardiomyopathy
|  |
TNNC1
|
Familial hypertrophic cardiomyopathy (FHCM)
|  |
TNNI3
|
Left ventricular noncompaction (LVNC)
|  |
TNNT2
|
Li-Fraumeni syndrome
|  |
TP53
|
Familial hypertrophic cardiomyopathy (FHCM)
|  |
TPM1
|
Long QT Syndrome
|  |
TRDN
|
Tuberous sclerosis
|  |
TSC1
|
Tuberous sclerosis
|  |
TSC2
|
Dilated Cardiomyopathy
|  |
TTN
|
Hereditary TTR amyloidosis
|  |
TTR
|
Von Hippel-Lindau syndrome
|  |
VHL
|
Wilms’ tumor
|  |
WT1
|