NM_170707.4(LMNA):c.1412G>A (p.Arg471His)Pathogenic
Primary dilated cardiomyopathy|not provided|Dilated cardiomyopathy 1A|Cardiovascular phenotype|Charcot-Marie-Tooth disease type 2|Cardiomyopathy
β
β
ββ2026β Residue 471
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp)Pathogenic
not provided|Dilated cardiomyopathy 1S|Charcot-Marie-Tooth disease type 2|Cardiovascular phenotype|Primary dilated cardiomyopathy|LMNA-related disorder|Dilated cardiomyopathy 1A|7 conditions
β
β
ββ2026β Residue 190
NM_170707.4(LMNA):c.74G>A (p.Arg25His)Likely pathogenic
Charcot-Marie-Tooth disease type 2|Dilated cardiomyopathy 1A
β
β
ββ2026β Residue 25
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln)Pathogenic
not provided|Cardiovascular phenotype|Cardiomyopathy|Charcot-Marie-Tooth disease type 2|Primary dilated cardiomyopathy|Dilated cardiomyopathy 1A
β
β
ββ2026β Residue 190
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)Pathogenic
Emery-Dreifuss muscular dystrophy 2, autosomal dominant|not provided|Muscular dystrophy|Charcot-Marie-Tooth disease type 2|Dilated cardiomyopathy 1A|Abnormality of the musculature|Congenital muscular dystrophy due to LMNA mutation|Cardiovascular phenotype
β
β
ββ2026β Residue 453
NM_170707.4(LMNA):c.1582A>C (p.Thr528Pro)Pathogenic
not provided|Charcot-Marie-Tooth disease type 2
β
β
ββ2026β Residue 528
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)Pathogenic
Primary dilated cardiomyopathy|not provided|Charcot-Marie-Tooth disease type 2|Dilated cardiomyopathy 1A|Charcot-Marie-Tooth disease type 2B1|Cardiovascular phenotype|Dilated cardiomyopathy 1A;Emery-Dreifuss muscular dystrophy 2, autosomal dominant;Congenital muscular dystrophy due to LMNA mutation|Cardiomyopathy
β
β
ββ2026β Residue 377
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)Pathogenic
not provided|Primary dilated cardiomyopathy|Charcot-Marie-Tooth disease type 2|Cardiovascular phenotype|Dilated cardiomyopathy 1A|Hutchinson-Gilford syndrome|LMNA-related disorder|Congenital muscular dystrophy|Emery-Dreifuss muscular dystrophy 2, autosomal dominant
β
β
ββ2026β Residue 541
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)Pathogenic
Dilated cardiomyopathy 1A|not provided|Primary dilated cardiomyopathy|Charcot-Marie-Tooth disease type 2|Cardiomyopathy|Long QT syndrome|Cardiovascular phenotype
β
β
ββ2026β Residue 161
NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys)Pathogenic
not provided|Muscular dystrophy|Charcot-Marie-Tooth disease type 2
β
β
ββ2026β Residue 361
NM_170707.4(LMNA):c.1526dup (p.Thr510fs)Pathogenic
Primary dilated cardiomyopathy|not provided|Charcot-Marie-Tooth disease type 2|Cardiovascular phenotype
β
β
ββ2025β Residue 510
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)Pathogenic
Primary dilated cardiomyopathy|not provided|Cardiovascular phenotype|Charcot-Marie-Tooth disease type 2|11 conditions|Primary familial dilated cardiomyopathy|Cardiomyopathy|Dilated cardiomyopathy 1A
β
β
ββ2025β Residue 321
NM_170707.4(LMNA):c.1057C>T (p.Gln353Ter)Pathogenic
not provided|Charcot-Marie-Tooth disease type 2|Cardiovascular phenotype|Neuronopathy, distal hereditary motor, autosomal dominant
β
β
ββ2025β Residue 353
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)Pathogenic
Dilated cardiomyopathy 1A|not provided|Emery-Dreifuss muscular dystrophy 2, autosomal dominant|Primary dilated cardiomyopathy|Charcot-Marie-Tooth disease type 2|Cardiomyopathy|Cardiovascular phenotype
β
β
ββ2025β Residue 225
NM_170707.4(LMNA):c.768G>A (p.Val256=)Pathogenic
not provided|Primary dilated cardiomyopathy|Charcot-Marie-Tooth disease type 2|Dilated cardiomyopathy 1A|Cardiovascular phenotype|11 conditions
β
β
ββ2025β Residue 256
NM_170707.4(LMNA):c.811-2A>GPathogenic
Charcot-Marie-Tooth disease type 2|Dilated cardiomyopathy 1A
β
β
ββ2025
NM_170707.4(LMNA):c.1401G>A (p.Trp467Ter)Pathogenic
not provided|Dilated cardiomyopathy 1A|Charcot-Marie-Tooth disease type 2
β
β
ββ2025β Residue 467
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)Pathogenic
Familial partial lipodystrophy, Dunnigan type|not provided|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 2|Familial partial lipodystrophy|Cardiovascular phenotype|11 conditions|LMNA-related disorder
β
β
ββ2025β Residue 482
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)Pathogenic
Primary dilated cardiomyopathy|not provided|Charcot-Marie-Tooth disease type 2|not specified|Cardiomyopathy|Primary familial dilated cardiomyopathy|Cardiovascular phenotype|Dilated cardiomyopathy 1A|LMNA-related disorder
β
β
ββ2025β Residue 317
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)Pathogenic
Primary dilated cardiomyopathy|not provided|Charcot-Marie-Tooth disease type 2|Cardiovascular phenotype|Heart-hand syndrome, Slovenian type|Arrhythmogenic right ventricular cardiomyopathy|Left ventricular noncompaction|Laminopathy;Primary dilated cardiomyopathy|Dilated cardiomyopathy 1A|Cardiomyopathy|11 conditions|Primary familial dilated cardiomyopathy|LMNA-related disorder
β
β
ββ2025β Residue 335