NM_000337.6(SGCD):c.493C>T (p.Arg165Ter)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2F|Autosomal recessive limb-girdle muscular dystrophy type 2F;Dilated cardiomyopathy 1L|not provided|Dilated cardiomyopathy 1L|Autosomal recessive limb-girdle muscular dystrophy
β
β
β
β2025β Residue 165
NM_000337.6(SGCD):c.289C>T (p.Arg97Ter)Pathogenic
not provided|Dilated cardiomyopathy 1L|Autosomal recessive limb-girdle muscular dystrophy type 2F|Autosomal recessive limb-girdle muscular dystrophy
β
β
β
β2025β Residue 97
NM_000337.6(SGCD):c.10C>T (p.Gln4Ter)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2F|Autosomal recessive limb-girdle muscular dystrophy type 2F;Dilated cardiomyopathy 1L
β
β
ββ2026β Residue 4
NM_000337.6(SGCD):c.192+1G>ALikely pathogenic
Dilated cardiomyopathy 1L;Autosomal recessive limb-girdle muscular dystrophy type 2F|Autosomal recessive limb-girdle muscular dystrophy type 2F
β
β
ββ2025
NM_000337.6(SGCD):c.65dup (p.Tyr23fs)Pathogenic
not provided|Autosomal recessive limb-girdle muscular dystrophy type 2F
β
β
ββ2025β Residue 23
NM_000337.6(SGCD):c.390del (p.Ala131fs)Pathogenic
Neuromuscular disease|Autosomal recessive limb-girdle muscular dystrophy type 2F
β
β
ββ2025β Residue 131
NM_000337.6(SGCD):c.441dup (p.Leu148fs)Pathogenic
Dilated cardiomyopathy 1L|Autosomal recessive limb-girdle muscular dystrophy type 2F
β
β
ββ2024β Residue 148
NM_000337.6(SGCD):c.248_249del (p.Asp82_Ser83insTer)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2F|Dilated cardiomyopathy 1L
β
β
ββ2024β Residue 82
NM_000337.6(SGCD):c.784G>A (p.Glu262Lys)Likely pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2F|Dilated cardiomyopathy 1L
β
β
ββ2024β Residue 262
NM_000337.6(SGCD):c.97C>T (p.Arg33Ter)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2F|not provided|Autosomal recessive limb-girdle muscular dystrophy type 2F;Dilated cardiomyopathy 1L
β
β
ββ2024β Residue 33
NM_000337.6(SGCD):c.294+1G>ALikely pathogenic
Neuromuscular disease|Autosomal recessive limb-girdle muscular dystrophy type 2F;Dilated cardiomyopathy 1L|Autosomal recessive limb-girdle muscular dystrophy type 2F
β
β
ββ2024
NM_000337.6(SGCD):c.354_358del (p.Thr119fs)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2F|Dilated cardiomyopathy 1L
β
β
ββ2023β Residue 119
NM_000337.6(SGCD):c.657del (p.Thr220fs)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2F|Dilated cardiomyopathy 1L
β
β
ββ2023β Residue 220
NM_000337.6(SGCD):c.4-1G>TLikely pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2F|Dilated cardiomyopathy 1L
β
β
ββ2023
NM_000337.6(SGCD):c.491T>G (p.Leu164Ter)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2F
β
βββ2026β Residue 164
NM_000337.6(SGCD):c.466G>T (p.Glu156Ter)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2F
β
βββ2025β Residue 156
NM_000337.6(SGCD):c.90G>A (p.Trp30Ter)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2F
β
βββ2025β Residue 30
NM_000337.6(SGCD):c.506del (p.Ala169fs)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2F
β
βββ2025β Residue 169
NM_000337.6(SGCD):c.382+2T>CLikely pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2F
β
βββ2024
NM_000337.6(SGCD):c.414del (p.Lys138fs)Likely pathogenic
Muscular dystrophy
β
βββ2024β Residue 138