| RS727504242 |
TNNI3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy |
| RS727504243 |
TNNI3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS727504244 |
TNNT2
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1D, Cardiomyopathy |
| RS727504245 |
TNNT2
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1D, Cardiomyopathy |
| RS727504246 |
TNNT2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1D |
| RS727504247 |
TNNT2
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D |
| RS727504248 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727504252 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727504253 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727504255 |
TNNT2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 2 |
| RS727504259 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727504260 |
TNNT2
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1D, Cardiomyopathy |
| RS727504261 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727504262 |
LAMP2
|
Health Risk |
Likely pathogenic |
Danon disease, Danon disease |
| RS727504264 |
TPM1
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727504265 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS727504267 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727504269 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS727504271 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS727504272 |
MYH7
|
Health Risk |
Likely pathogenic |
MYH7-related disorder, Hypertrophic cardiomyopathy |
| RS727504273 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS727504274 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727504275 |
TNNI3
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727504276 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727504277 |
TNNT2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS727504279 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727504283 |
MYH7
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727504285 |
TNNI3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS727504286 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727504287 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy |
| RS727504288 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4 |
| RS727504289 |
MYBPC3
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiomyopathy |
| RS727504290 |
TPM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS727504291 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS727504292 |
TGFBR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Loeys-Dietz syndrome, Loeys-Dietz syndrome 2 |
| RS727504293 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727504294 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727504295 |
SOS1
|
Health Risk |
Pathogenic |
Noonan syndrome, RASopathy |
| RS727504299 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy |
| RS727504300 |
MYL2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy 10, Cardiovascular phenotype |
| RS727504301 |
PCDH15
|
Health Risk |
Pathogenic |
Usher syndrome type 1F, Rare genetic deafness |
| RS727504302 |
GJB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 1A |
| RS727504303 |
SLC26A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Pendred syndrome, Pendred syndrome |
| RS727504304 |
TMPRSS3
|
Health Risk |
Pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 8 |
| RS727504305 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727504307 |
USH2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 2A, Inborn genetic diseases |
| RS727504308 |
ACTC1
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R |
| RS727504309 |
GJB2
|
Health Risk |
Conflicting classifications of pathogenicity |
8 conditions, Autosomal recessive nonsyndromic hearing loss 1A |
| RS727504310 |
MYH7
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy 1, Cardiovascular phenotype |
| RS727504311 |
MYH7
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS727504313 |
TPM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS727504314 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727504315 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS727504317 |
MAP2K1
|
Health Risk |
Pathogenic |
Cardiofaciocutaneous syndrome 3, RASopathy |
| RS727504319 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS727504320 |
MYH7
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, Cardiomyopathy |
| RS727504321 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS727504322 |
TNNT2
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1D, Cardiomyopathy |
| RS727504323 |
ACTC1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727504325 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727504327 |
TAFAZZIN
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, 3-Methylglutaconic aciduria type 2 |
| RS727504329 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS727504331 |
TNNT2
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727504333 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727504334 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS727504340 |
LMNA
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype |
| RS727504344 |
TGFBR2
|
Health Risk |
Uncertain significance/Uncertain risk allele |
Diabetic retinopathy, Diabetic retinopathy |
| RS727504347 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS727504348 |
GLA
|
Health Risk |
Pathogenic/Likely pathogenic |
Fabry disease, Hypertrophic cardiomyopathy |
| RS727504349 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727504350 |
GLA
|
Health Risk |
Pathogenic |
Fabry disease, Fabry disease |
| RS727504356 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727504366 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4 |
| RS727504367 |
TNNI3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727504370 |
MAP2K2
|
Health Risk |
Likely pathogenic |
RASopathy, Cardio-facio-cutaneous syndrome |
| RS727504371 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727504374 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS727504375 |
BRAF
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardio-facio-cutaneous syndrome, Noonan syndrome |
| RS727504379 |
ACTC1
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy 11 |
| RS727504381 |
VCL
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS727504382 |
MAP2K2
|
Health Risk |
Likely pathogenic |
RASopathy, Cardio-facio-cutaneous syndrome |
| RS727504385 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727504389 |
TPM1
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS727504390 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727504392 |
PRKAG2
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727504394 |
TAFAZZIN
|
Health Risk |
Pathogenic |
3-Methylglutaconic aciduria type 2, Primary dilated cardiomyopathy |
| RS727504396 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4 |
| RS727504397 |
PTPN11
|
Health Risk |
Conflicting classifications of pathogenicity |
RASopathy, RASopathy |
| RS727504399 |
ACTC1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R |
| RS727504406 |
TGFBR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2 |
| RS727504407 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS727504409 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727504410 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS727504411 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS727504412 |
JAG1
|
Health Risk |
Pathogenic |
Alagille syndrome due to a JAG1 point mutation, Arteriohepatic dysplasia |
| RS727504417 |
EDA
|
Health Risk |
Pathogenic |
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS727504419 |
ELN
|
Health Risk |
Pathogenic |
Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS727504420 |
APC
|
Health Risk |
Likely pathogenic |
Familial multiple polyposis syndrome, Familial multiple polyposis syndrome |
| RS727504421 |
TGFBR2
|
Health Risk |
Pathogenic/Likely pathogenic |
Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS727504423 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |