NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr)Pathogenic
Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M|not specified|Cardiovascular phenotype|Cardiomyopathy|not provided|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 12
β
β
ββ2026β Residue 150
NM_003476.5(CSRP3):c.364C>T (p.Arg122Ter)Pathogenic
not provided|Cardiomyopathy|Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M
β
β
ββ2025β Residue 122
NM_003476.5(CSRP3):c.172T>G (p.Cys58Gly)Pathogenic
Hypertrophic cardiomyopathy 12|Cardiovascular phenotype|Dilated cardiomyopathy 1M;Hypertrophic cardiomyopathy 12
β
β
ββ2025β Residue 58
NM_003476.5(CSRP3):c.414+1G>TLikely pathogenic
Cardiomyopathy|Dilated cardiomyopathy 1M;Hypertrophic cardiomyopathy 12|Cardiovascular phenotype
β
β
ββ2025
NM_003476.5(CSRP3):c.50_51insGCAGATTTCTT (p.Tyr18fs)Pathogenic
not provided|Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M|Cardiovascular phenotype
β
β
ββ2024β Residue 18
NM_003476.5(CSRP3):c.111C>A (p.Cys37Ter)Pathogenic
Cardiomyopathy|Dilated cardiomyopathy 1M;Hypertrophic cardiomyopathy 12
β
β
ββ2023β Residue 37
NM_003476.5(CSRP3):c.49_55del (p.Val17fs)Pathogenic
Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M
β
βββ2025β Residue 17
NM_003476.5(CSRP3):c.298del (p.Arg100fs)Pathogenic
Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M
β
βββ2025β Residue 100
NM_003476.5(CSRP3):c.281+1G>CLikely pathogenic
Dilated cardiomyopathy 1M;Hypertrophic cardiomyopathy 12
β
βββ2025
NM_003476.5(CSRP3):c.186T>G (p.Tyr62Ter)Pathogenic
Dilated cardiomyopathy 1M;Hypertrophic cardiomyopathy 12
β
βββ2025β Residue 62
NM_003476.5(CSRP3):c.161C>A (p.Ser54Ter)Pathogenic
Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M
β
βββ2025β Residue 54
NM_003476.5(CSRP3):c.54C>A (p.Tyr18Ter)Pathogenic
Dilated cardiomyopathy 1M;Hypertrophic cardiomyopathy 12
β
βββ2024β Residue 18
NM_003476.5(CSRP3):c.72del (p.Gln24fs)Pathogenic
Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M
β
βββ2024β Residue 24
NM_003476.5(CSRP3):c.414+1G>CLikely pathogenic
Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M
β
βββ2024
NM_003476.5(CSRP3):c.27del (p.Lys9fs)Pathogenic
Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M
β
βββ2024β Residue 9
NM_003476.5(CSRP3):c.444dup (p.Ile149fs)Pathogenic
Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M
β
βββ2024β Residue 149
NM_003476.5(CSRP3):c.52del (p.Tyr18fs)Pathogenic
Dilated cardiomyopathy 1M;Hypertrophic cardiomyopathy 12
β
βββ2024β Residue 18
NM_003476.5(CSRP3):c.55del (p.His19fs)Pathogenic
Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M
β
βββ2024β Residue 19
NM_003476.5(CSRP3):c.82_85del (p.Arg28fs)Pathogenic
Dilated cardiomyopathy 1M;Hypertrophic cardiomyopathy 12
β
βββ2024β Residue 28
NM_003476.5(CSRP3):c.165del (p.Ile56fs)Pathogenic
Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M
β
βββ2024β Residue 56