NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln)Pathogenic
Wolff-Parkinson-White pattern|Hypertrophic cardiomyopathy 6|Primary familial hypertrophic cardiomyopathy|not provided|Lethal congenital glycogen storage disease of heart|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy|Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
★★☆☆2026→ Residue 302
NM_016203.4(PRKAG2):c.1592G>A (p.Arg531Gln)Pathogenic
Lethal congenital glycogen storage disease of heart|Hypertrophic cardiomyopathy|not provided|Gastric cancer
★★☆☆2026→ Residue 531
NM_016203.4(PRKAG2):c.1589A>G (p.His530Arg)Pathogenic
Hypertrophic cardiomyopathy 6|not provided|Lethal congenital glycogen storage disease of heart|Hypertrophic cardiomyopathy|Cardiovascular phenotype
★★☆☆2024→ Residue 530
NM_016203.4(PRKAG2):c.905G>C (p.Arg302Pro)Pathogenic
Lethal congenital glycogen storage disease of heart|Cardiovascular phenotype
★★☆☆2024→ Residue 302
NM_016203.4(PRKAG2):c.1199C>A (p.Thr400Asn)Likely pathogenic
Hypertrophic cardiomyopathy 6|Hypertrophic cardiomyopathy|PRKAG2-related disorder
★★☆☆2023→ Residue 400
NM_016203.4(PRKAG2):c.879C>A (p.Phe293Leu)Pathogenic
Cardiomyopathy|Hypertrophic cardiomyopathy|Lethal congenital glycogen storage disease of heart
★★☆☆2020→ Residue 293
NM_016203.4(PRKAG2):c.1516G>C (p.Glu506Gln)Likely pathogenic
Hypertrophic cardiomyopathy 6|not provided|Hypertrophic cardiomyopathy
★★☆☆2016→ Residue 506
NM_016203.4(PRKAG2):c.466+45171G>TLikely pathogenic
Hypertrophic cardiomyopathy 6
★☆☆☆2025
NM_016203.4(PRKAG2):c.1516G>A (p.Glu506Lys)Pathogenic
Lethal congenital glycogen storage disease of heart
★☆☆☆2024→ Residue 506
NM_016203.4(PRKAG2):c.1026G>C (p.Glu342Asp)Pathogenic
PRKAG2 syndrome
★☆☆☆2024→ Residue 342
NM_016203.4(PRKAG2):c.997T>C (p.Ser333Pro)Pathogenic
Lethal congenital glycogen storage disease of heart
★☆☆☆2024→ Residue 333
NM_016203.4(PRKAG2):c.1642T>G (p.Ser548Ala)Likely pathogenic
Lethal congenital glycogen storage disease of heart
★☆☆☆2023→ Residue 548
NM_016203.4(PRKAG2):c.1591C>T (p.Arg531Trp)Likely pathogenic
Lethal congenital glycogen storage disease of heart
★☆☆☆2022→ Residue 531
NM_016203.4(PRKAG2):c.1201C>G (p.His401Asp)Likely pathogenic
Lethal congenital glycogen storage disease of heart
★☆☆☆2022→ Residue 401
NM_016203.4(PRKAG2):c.1453A>G (p.Lys485Glu)Pathogenic
Lethal congenital glycogen storage disease of heart
★☆☆☆2022→ Residue 485
NM_016203.4(PRKAG2):c.869A>T (p.Lys290Ile)Pathogenic
Lethal congenital glycogen storage disease of heart
★☆☆☆2022→ Residue 290
NM_016203.4(PRKAG2):c.1149C>G (p.His383Gln)Likely pathogenic
Cardiovascular phenotype
★☆☆☆2021→ Residue 383
NM_016203.4(PRKAG2):c.1588C>G (p.His530Asp)Pathogenic
Lethal congenital glycogen storage disease of heart
★☆☆☆2021→ Residue 530
NM_016203.4(PRKAG2):c.1007T>C (p.Val336Ala)Pathogenic
Lethal congenital glycogen storage disease of heart
★☆☆☆2021→ Residue 336
NM_016203.4(PRKAG2):c.1022T>C (p.Leu341Ser)Likely pathogenic
Hypertrophic cardiomyopathy
★☆☆☆2018→ Residue 341