NM_032806.6(POMGNT2):c.1232del (p.Gln411fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8|not provided
β
β
ββ2025β Residue 411
NM_032806.6(POMGNT2):c.758C>T (p.Pro253Leu)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8|Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
β
β
ββ2024β Residue 253
NM_032806.6(POMGNT2):c.1232_1233del (p.Gln411fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β
β
ββ2024β Residue 411
NM_032806.6(POMGNT2):c.1258del (p.Ala420fs)Pathogenic
not provided|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β
β
ββ2022β Residue 420
NM_032806.6(POMGNT2):c.1042C>T (p.Gln348Ter)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β
βββ2025β Residue 348
NM_032806.6(POMGNT2):c.248G>A (p.Trp83Ter)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β
βββ2025β Residue 83
NM_032806.6(POMGNT2):c.1555G>T (p.Glu519Ter)Likely pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β
βββ2025β Residue 519
NM_032806.6(POMGNT2):c.509del (p.Asp170fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β
βββ2025β Residue 170
NM_032806.6(POMGNT2):c.1333C>T (p.Arg445Ter)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β
βββ2025β Residue 445
NM_032806.6(POMGNT2):c.1216G>T (p.Glu406Ter)Likely pathogenic
not provided
β
βββ2025β Residue 406
NM_032806.6(POMGNT2):c.740_741del (p.Phe247fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β
βββ2025β Residue 247
NM_032806.6(POMGNT2):c.851del (p.Leu284fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β
βββ2025β Residue 284
NM_032806.6(POMGNT2):c.1170T>G (p.Tyr390Ter)Likely pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β
βββ2023β Residue 390
NM_032806.6(POMGNT2):c.118C>T (p.Arg40Ter)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β
βββ2023β Residue 40
NM_032806.6(POMGNT2):c.1264C>T (p.Gln422Ter)Likely pathogenic
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β
βββ2023β Residue 422
NM_032806.6(POMGNT2):c.410_411delinsG (p.Ala137fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β
βββ2022β Residue 137
NM_032806.6(POMGNT2):c.1234G>A (p.Gly412Arg)Likely pathogenic
not provided
β
βββ2022β Residue 412
NM_032806.6(POMGNT2):c.1510del (p.Val504fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β
βββ2022β Residue 504
NM_032806.6(POMGNT2):c.1000_1003del (p.Leu334fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β
βββ2022β Residue 334
NM_032806.6(POMGNT2):c.40del (p.Val14fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β
βββ2022β Residue 14