NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)Pathogenic
Left ventricular noncompaction 4|Hypertrophic cardiomyopathy 11|Primary familial hypertrophic cardiomyopathy|not provided|Cardiomyopathy|Atrial septal defect 5;Dilated cardiomyopathy 1R;Hypertrophic cardiomyopathy 11|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Dilated cardiomyopathy 1R
★★★☆2025→ Residue 101
NM_005159.5(ACTC1):c.850A>T (p.Ile284Phe)Likely pathogenic
not specified|Hypertrophic cardiomyopathy 11;Dilated cardiomyopathy 1R;Atrial septal defect 5|Hypertrophic cardiomyopathy 11|Hypertrophic cardiomyopathy
★★★☆2025→ Residue 284
NM_005159.5(ACTC1):c.866T>C (p.Ile289Thr)Pathogenic
Primary dilated cardiomyopathy|not provided|Atrial septal defect 5;Dilated cardiomyopathy 1R;Hypertrophic cardiomyopathy 11
★★☆☆2025→ Residue 289
NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile)Likely pathogenic
not specified|not provided|Atrial septal defect 5;Dilated cardiomyopathy 1R;Hypertrophic cardiomyopathy 11|Cardiovascular phenotype
★★☆☆2025→ Residue 128
NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp)Pathogenic
Hypertrophic cardiomyopathy 11;Dilated cardiomyopathy 1R;Atrial septal defect 5|Cardiovascular phenotype|Cardiomyopathy
★★☆☆2024→ Residue 247
NM_005159.5(ACTC1):c.553C>T (p.Arg185Trp)Likely pathogenic
Primary dilated cardiomyopathy|Inborn genetic diseases
★★☆☆2016→ Residue 185
NM_005159.5(ACTC1):c.830A>G (p.His277Arg)Likely pathogenic
not provided
★☆☆☆2025→ Residue 277
NM_005159.5(ACTC1):c.716A>T (p.Glu239Val)Likely pathogenic
Dilated cardiomyopathy 1R;Atrial septal defect 5;Hypertrophic cardiomyopathy 11
★☆☆☆2025→ Residue 239
NM_005159.5(ACTC1):c.635G>C (p.Arg212Pro)Likely pathogenic
not provided
★☆☆☆2025→ Residue 212
NM_005159.5(ACTC1):c.643A>G (p.Lys215Glu)Likely pathogenic
Atrial septal defect 5
★☆☆☆2025→ Residue 215
NM_005159.5(ACTC1):c.889G>T (p.Ala297Ser)Pathogenic
Hypertrophic cardiomyopathy 11|Atrial septal defect 5;Dilated cardiomyopathy 1R;Hypertrophic cardiomyopathy 11
★☆☆☆2025→ Residue 297
NM_005159.5(ACTC1):c.951G>T (p.Lys317Asn)Likely pathogenic
Hypertrophic cardiomyopathy 11;Dilated cardiomyopathy 1R;Atrial septal defect 5
★☆☆☆2023→ Residue 317
NM_005159.5(ACTC1):c.581T>A (p.Ile194Asn)Likely pathogenic
Hypertrophic cardiomyopathy 11;Dilated cardiomyopathy 1R;Atrial septal defect 5
★☆☆☆2022→ Residue 194
NM_005159.5(ACTC1):c.663_679dup (p.Asn227fs)Likely pathogenic
Atrial septal defect 5
★☆☆☆2022→ Residue 227
NM_005159.5(ACTC1):c.155A>C (p.Lys52Thr)Likely pathogenic
Dilated cardiomyopathy 1R;Atrial septal defect 5;Hypertrophic cardiomyopathy 11
★☆☆☆2021→ Residue 52
NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro)Pathogenic
Hypertrophic cardiomyopathy 11|Atrial septal defect 5;Dilated cardiomyopathy 1R;Hypertrophic cardiomyopathy 11
★☆☆☆2019→ Residue 333
NM_005159.5(ACTC1):c.344A>G (p.Lys115Arg)Likely pathogenic
not provided
★☆☆☆2019→ Residue 115
NM_005159.5(ACTC1):c.715G>C (p.Glu239Gln)Likely pathogenic
not provided
★☆☆☆2016→ Residue 239
NM_005159.5(ACTC1):c.766C>T (p.Arg256Cys)Likely pathogenic
Hypertrophic cardiomyopathy 11;Dilated cardiomyopathy 1R;Atrial septal defect 5
★☆☆☆→ Residue 256
NM_005159.5(ACTC1):c.1121G>A (p.Arg374His)Likely pathogenic
Arthrogryposis
★☆☆☆→ Residue 374