NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn)Pathogenic
Hypertrophic cardiomyopathy 3|Primary familial hypertrophic cardiomyopathy|not provided|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Dilated cardiomyopathy 1Y|Primary dilated cardiomyopathy
★★☆☆2026→ Residue 175
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys)Pathogenic
not provided|Left ventricular noncompaction 9|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 3|Cardiovascular phenotype|Cardiomyopathy|Primary dilated cardiomyopathy|Dilated cardiomyopathy 1Y;Hypertrophic cardiomyopathy 3
★★☆☆2026→ Residue 192
NM_001018005.2(TPM1):c.284T>C (p.Val95Ala)Pathogenic
Hypertrophic cardiomyopathy 3|not provided|Hypertrophic cardiomyopathy|Cardiovascular phenotype
★★☆☆2025→ Residue 95
NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn)Pathogenic
not provided|Primary dilated cardiomyopathy|Hypertrophic cardiomyopathy|Dilated cardiomyopathy 1Y;Hypertrophic cardiomyopathy 3|TPM1-related disorder
★★☆☆2025→ Residue 230
NM_001018005.2(TPM1):c.250G>A (p.Asp84Asn)Likely pathogenic
Cardiovascular phenotype|not provided|Hypertrophic cardiomyopathy|Dilated cardiomyopathy 1Y
★★☆☆2025→ Residue 84
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val)Pathogenic
not provided|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy 3
★★☆☆2025→ Residue 63
NM_001018005.2(TPM1):c.479G>A (p.Arg160His)Pathogenic
not provided|Primary dilated cardiomyopathy|Dilated cardiomyopathy 1Y|Hypertrophic cardiomyopathy|Dilated cardiomyopathy 1Y;Hypertrophic cardiomyopathy 3
★★☆☆2025→ Residue 160
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu)Pathogenic
not provided|Cardiomyopathy|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Dilated cardiomyopathy 1Y
★★☆☆2025→ Residue 215
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn)Pathogenic
Primary dilated cardiomyopathy|not provided|Hypertrophic cardiomyopathy|Dilated cardiomyopathy 1Y|Cardiomyopathy|Left ventricular noncompaction 9|Hypertrophic cardiomyopathy 3|Familial cardiomyopathy
★★☆☆2024→ Residue 159
NM_001018005.2(TPM1):c.184G>C (p.Glu62Gln)Likely pathogenic
not provided|Hypertrophic cardiomyopathy|Cardiovascular phenotype
★★☆☆2024→ Residue 62
NM_001018005.2(TPM1):c.85AAG[1] (p.Lys30del)Likely pathogenic
Cardiomyopathy|TPM1-related disorder
★★☆☆2023→ Residue 30
NM_001018005.2(TPM1):c.539A>G (p.Glu180Gly)Pathogenic
Hypertrophic cardiomyopathy 3|not provided|Hypertrophic cardiomyopathy
★★☆☆2023→ Residue 180
NM_001018005.2(TPM1):c.292G>A (p.Glu98Lys)Pathogenic
Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 3
★★☆☆2022→ Residue 98
NM_001018005.2(TPM1):c.281T>A (p.Leu94Gln)Pathogenic
Dilated cardiomyopathy 1Y
★☆☆☆2025→ Residue 94
NM_001018005.2(TPM1):c.724G>A (p.Ala242Thr)Likely pathogenic
not provided
★☆☆☆2025→ Residue 242
NM_001018005.2(TPM1):c.553C>T (p.Leu185Phe)Pathogenic
Hypertrophic cardiomyopathy
★☆☆☆2025→ Residue 185
NM_001018005.2(TPM1):c.42C>G (p.Asp14Glu)Likely pathogenic
Dilated cardiomyopathy 1Y
★☆☆☆2025→ Residue 14
NM_001018005.2(TPM1):c.791A>G (p.Lys264Arg)Likely pathogenic
Hypertrophic cardiomyopathy 3
★☆☆☆2025→ Residue 264
NM_001018005.2(TPM1):c.615G>T (p.Lys205Asn)Likely pathogenic
Cardiovascular phenotype
★☆☆☆2025→ Residue 205
NM_001018005.2(TPM1):c.435G>T (p.Glu145Asp)Likely pathogenic
Hypertrophic cardiomyopathy 3;Dilated cardiomyopathy 1Y
★☆☆☆2024→ Residue 145