NM_206926.2(SELENON):c.841G>A (p.Gly281Ser)Pathogenic
Eichsfeld type congenital muscular dystrophy|Congenital myopathy with fiber type disproportion|not provided|Eichsfeld type congenital muscular dystrophy;Congenital myopathy with fiber type disproportion|SEPN1-related disorder|Eichsfeld type congenital muscular dystrophy;Congenital myopathy 4A, autosomal dominant|SELENON-related myopathy|Malignant tumor of esophagus|Inborn genetic diseases
β
β
ββ2026β Residue 281
NM_206926.2(SELENON):c.1078G>T (p.Glu360Ter)Pathogenic
Eichsfeld type congenital muscular dystrophy
β
β
ββ2026β Residue 360
NM_206926.2(SELENON):c.611dup (p.Asn204fs)Pathogenic
Eichsfeld type congenital muscular dystrophy|not provided|Congenital myopathy with fiber type disproportion;Eichsfeld type congenital muscular dystrophy|SELENON-related disorder
β
β
ββ2026β Residue 204
NM_206926.2(SELENON):c.9_33del (p.Ala4fs)Pathogenic
not provided|Eichsfeld type congenital muscular dystrophy
β
β
ββ2026β Residue 4
NM_206926.2(SELENON):c.1285+1G>APathogenic
Eichsfeld type congenital muscular dystrophy
β
β
ββ2026
NM_206926.2(SELENON):c.1367G>A (p.Trp456Ter)Pathogenic
Eichsfeld type congenital muscular dystrophy|not provided
β
β
ββ2025β Residue 456
NM_206926.2(SELENON):c.1303C>T (p.Arg435Trp)Pathogenic
Eichsfeld type congenital muscular dystrophy|not provided
β
β
ββ2025β Residue 435
NM_206926.2(SELENON):c.13_22dup (p.Gln8fs)Pathogenic
not provided|Eichsfeld type congenital muscular dystrophy
β
β
ββ2025β Residue 8
NM_206926.2(SELENON):c.1213C>T (p.Arg405Ter)Pathogenic
not provided|Eichsfeld type congenital muscular dystrophy|See cases
β
β
ββ2025β Residue 405
NM_206926.2(SELENON):c.895_898del (p.Val299fs)Pathogenic
not provided|Eichsfeld type congenital muscular dystrophy|Congenital myopathy with fiber type disproportion
β
β
ββ2025β Residue 299
NM_206926.2(SELENON):c.1295G>A (p.Arg432Gln)Pathogenic
Eichsfeld type congenital muscular dystrophy|not provided|SEPN1-related disorder|Muscular dystrophy|Cleft lip/palate|Inborn genetic diseases
β
β
ββ2025β Residue 432
NM_206926.2(SELENON):c.770G>A (p.Arg257Gln)Pathogenic
not provided|Eichsfeld type congenital muscular dystrophy;Congenital myopathy with fiber type disproportion|Eichsfeld type congenital muscular dystrophy|See cases
β
β
ββ2025β Residue 257
NM_206926.2(SELENON):c.1A>G (p.Met1Val)Pathogenic
Eichsfeld type congenital muscular dystrophy|not provided|Congenital myopathy with fiber type disproportion|Eichsfeld type congenital muscular dystrophy;Congenital myopathy with fiber type disproportion
β
β
ββ2025β Residue 1
NM_206926.2(SELENON):c.379C>T (p.Arg127Ter)Pathogenic
Eichsfeld type congenital muscular dystrophy|Congenital myopathy with fiber type disproportion
β
β
ββ2025β Residue 127
NM_206926.2(SELENON):c.776A>G (p.His259Arg)Pathogenic
SEPN1-related disorder|Eichsfeld type congenital muscular dystrophy
β
β
ββ2025β Residue 259
NM_206926.2(SELENON):c.463C>T (p.Arg155Ter)Pathogenic
Eichsfeld type congenital muscular dystrophy|not provided
β
β
ββ2025β Residue 155
NM_206926.2(SELENON):c.-11_81del (p.Met1fs)Pathogenic
not provided|Congenital myopathy with fiber type disproportion|Eichsfeld type congenital muscular dystrophy
β
β
ββ2025β Residue 1
NM_206926.2(SELENON):c.581_587dup (p.Met196fs)Pathogenic
not provided|Eichsfeld type congenital muscular dystrophy
β
β
ββ2025β Residue 196
NM_206926.2(SELENON):c.1294C>T (p.Arg432Trp)Pathogenic
Eichsfeld type congenital muscular dystrophy|not provided
β
β
ββ2025β Residue 432
NM_206926.2(SELENON):c.770+2T>CPathogenic
not provided|Eichsfeld type congenital muscular dystrophy
β
β
ββ2025