| - GRCh37:
- Chr7:151257696
- GRCh38:
- Chr7:151560610
| PRKAG2 | R531Q, R487Q, R406Q, R290Q, R407Q | not provided, Lethal congenital glycogen storage disease of heart | Pathogenic
(Aug 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:151257697
- GRCh38:
- Chr7:151560611
| PRKAG2 | R407W, R406W, R487W, R290W, R531W | Lethal congenital glycogen storage disease of heart | Likely pathogenic
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:151257697
- GRCh38:
- Chr7:151560611
| PRKAG2 | R531G, R290G, R407G, R406G, R487G | Cardiovascular phenotype | Pathogenic
(Jul 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:151257699
- GRCh38:
- Chr7:151560613
| PRKAG2 | H530R, H406R, H289R, H486R, H405R | Cardiovascular phenotype, not provided, Lethal congenital glycogen storage disease of heart,
Hypertrophic cardiomyopathy | Pathogenic
(Oct 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:151257700
- GRCh38:
- Chr7:151560614
| PRKAG2 | H289D, H486D, H406D, H530D, H405D | Lethal congenital glycogen storage disease of heart | Pathogenic
(Sep 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:151261232
- GRCh38:
- Chr7:151564146
| PRKAG2 | E506Q, E381Q, E382Q, E265Q, E462Q | not provided, Hypertrophic cardiomyopathy | Likely pathogenic
(Oct 3, 2016) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:151261285
- GRCh38:
- Chr7:151564199
| PRKAG2 | N488I, N247I, N363I, N364I, N444I | Hypertrophic cardiomyopathy 6 | Pathogenic
(Feb 1, 2002) | no assertion criteria provided |
| - GRCh37:
- Chr7:151261295
- GRCh38:
- Chr7:151564209
| PRKAG2 | K264E, K377E, K244E, K360E, K361E, K389E, K485E, K243E, K379E, K440E, K441E, K484E, K260E, K388E | Lethal congenital glycogen storage disease of heart | Pathogenic
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:151265834
- GRCh38:
- Chr7:151568748
| PRKAG2 | H401D, H276D, H277D, H160D, H357D | Lethal congenital glycogen storage disease of heart | Likely pathogenic
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:151265836
- GRCh38:
- Chr7:151568750
| PRKAG2 | T400N, T275N, T276N, T159N, T356N | Hypertrophic cardiomyopathy | Likely pathogenic
(Jan 3, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:151265884
- GRCh38:
- Chr7:151568798
| PRKAG2 | R384T, R259T, R340T, R143T, R260T | Lethal congenital glycogen storage disease of heart | Pathogenic
(Oct 1, 2007) | no assertion criteria provided |
| - GRCh37:
- Chr7:151269750-151269751
- GRCh38:
- Chr7:151572664-151572665
| PRKAG2 | | Hypertrophic cardiomyopathy 6 | Pathogenic
(May 15, 2001) | no assertion criteria provided |
| - GRCh37:
- Chr7:151269771
- GRCh38:
- Chr7:151572685
| PRKAG2 | H344Y, H219Y, H300Y, H220Y, H103Y | Hypertrophic cardiomyopathy | Likely pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr7:151269779
- GRCh38:
- Chr7:151572693
| PRKAG2 | L341S, L100S, L216S, L217S, L297S | Hypertrophic cardiomyopathy | Likely pathogenic
(Oct 31, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:151269794
- GRCh38:
- Chr7:151572708
| PRKAG2 | V336A, V95A, V292A, V211A, V212A | Lethal congenital glycogen storage disease of heart | Pathogenic
(Sep 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:151272015
- GRCh38:
- Chr7:151574929
| PRKAG2 | F323I, F198I, F279I, F199I, F82I | Hypertrophic cardiomyopathy | Likely pathogenic
(Mar 1, 2008) | no assertion criteria provided |
| - GRCh37:
- Chr7:151273498
- GRCh38:
- Chr7:151576412
| PRKAG2 | R302P, R177P, R258P, R61P, R178P | Cardiovascular phenotype, Lethal congenital glycogen storage disease of heart | Pathogenic/Likely pathogenic
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:151273498
- GRCh38:
- Chr7:151576412
| PRKAG2 | R302Q, R61Q, R178Q, R177Q, R258Q | Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Cardiovascular phenotype, not provided,
Cardiomyopathy, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 6,
Lethal congenital glycogen storage disease of heart, Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy
| Pathogenic
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:151273524
- GRCh38:
- Chr7:151576438
| PRKAG2 | F293L, F168L, F169L, F249L, F52L | Lethal congenital glycogen storage disease of heart, Cardiomyopathy, Hypertrophic cardiomyopathy
| Pathogenic/Likely pathogenic
(Aug 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:151273534
- GRCh38:
- Chr7:151576448
| PRKAG2 | K290I, K166I, K165I, K246I, K49I | Lethal congenital glycogen storage disease of heart | Pathogenic
(Mar 18, 2022) | criteria provided, single submitter |