| RS2495746816 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495749193 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4 |
| RS2495749375 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495749440 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, Cardiomyopathy |
| RS2495749552 |
MYBPC3
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2495749625 |
MYBPC3
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2495749637 |
MYBPC3
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS2495749734 |
SHANK2
|
Health Risk |
Likely pathogenic |
Autism, susceptibility to |
| RS2495749748 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495749773 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495749842 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4 |
| RS2495749850 |
MYBPC3
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2495749896 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495749953 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495750255 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2495750393 |
MYBPC3
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Primary familial hypertrophic cardiomyopathy |
| RS2495750437 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495750440 |
MYBPC3
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2495751032 |
TCN1
|
Health Risk |
Pathogenic |
Transcobalamin I deficiency, Transcobalamin I deficiency |
| RS2495752024 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495752203 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS2495752399 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4 |
| RS2495752414 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495752429 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4 |
| RS2495752548 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495752615 |
BBS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome 1 |
| RS2495752844 |
BBS1
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2495752994 |
BBS1
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome 1 |
| RS2495754560 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495754669 |
MYBPC3
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2495754771 |
MYBPC3
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2495754785 |
MYBPC3
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2495755085 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS2495755876 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4 |
| RS2495755909 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495755972 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495756173 |
MYBPC3
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2495756385 |
MYBPC3
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2495756454 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495756478 |
SPTBN2
|
Health Risk |
Pathogenic |
— |
| RS2495756497 |
MYBPC3
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS2495759181 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4 |
| RS2495759571 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS2495759765 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495759836 |
BBS1
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1 |
| RS2495759901 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495760022 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495760139 |
BBS1
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2495760531 |
BBS1
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1 |
| RS2495760621 |
BBS1
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2495761138 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495761226 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495761254 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495761294 |
MYBPC3
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2495761329 |
MYBPC3
|
Health Risk |
Pathogenic |
— |
| RS2495761341 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495761423 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495762188 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495762440 |
PC
|
Health Risk |
Pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495762508 |
MYBPC3
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2495762572 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy |
| RS2495762628 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, Cardiomyopathy |
| RS2495762791 |
MYBPC3
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2495763202 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, Cardiomyopathy |
| RS2495763269 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495763359 |
MYBPC3
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2495763527 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495763599 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495763967 |
MYBPC3
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS2495764042 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4 |
| RS2495764162 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495764226 |
MYBPC3
|
Health Risk |
Likely pathogenic |
— |
| RS2495764248 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4 |
| RS2495764295 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS2495765339 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495765534 |
MYBPC3
|
Health Risk |
Likely pathogenic |
— |
| RS2495765760 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495765762 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4 |
| RS2495765804 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495769395 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495770501 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS2495770958 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495771025 |
MYBPC3
|
Health Risk |
Pathogenic |
Cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495771043 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495773703 |
PC
|
Health Risk |
Conflicting classifications of pathogenicity |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495773871 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495774106 |
MYBPC3
|
Health Risk |
Pathogenic |
Cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495774531 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495774704 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Long QT syndrome, Long QT syndrome |
| RS2495775259 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2495775289 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS2495775452 |
MYBPC3
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2495775461 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, Cardiomyopathy |
| RS2495776642 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495776834 |
BBS1
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1 |
| RS2495776914 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495776917 |
BBS1
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2495776992 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495777036 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495779138 |
BBS1
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1 |