NM_000404.4(GLB1):c.245C>T (p.Thr82Met)Pathogenic
GM1 gangliosidosis type 3|Inborn genetic diseases|Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis|GM1 gangliosidosis type 3;Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis type 2;Infantile GM1 gangliosidosis|Infantile GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B|not provided
★★☆☆2026→ Residue 82
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln)Pathogenic
GM1 gangliosidosis type 3|GM1 gangliosidosis type 3;GM1 gangliosidosis type 2;Infantile GM1 gangliosidosis|GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B
★★☆☆2026→ Residue 457
NM_000404.4(GLB1):c.785G>A (p.Gly262Glu)Pathogenic
Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis|GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B
★★☆☆2026→ Residue 262
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys)Pathogenic
Infantile GM1 gangliosidosis|not provided|GM1 gangliosidosis type 2|GM1 gangliosidosis type 3|Mucopolysaccharidosis, MPS-IV-B|Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis|GM1 gangliosidosis|GM1 gangliosidosis type 3;Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis type 2;Infantile GM1 gangliosidosis|Inborn genetic diseases
★★☆☆2026→ Residue 208
NM_000404.4(GLB1):c.107A>G (p.Tyr36Cys)Pathogenic
GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B|not provided|Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis type 3;Infantile GM1 gangliosidosis;GM1 gangliosidosis type 2|Mucopolysaccharidosis, MPS-IV-B
★★☆☆2026→ Residue 36
NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu)Pathogenic
Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B|Infantile GM1 gangliosidosis|not provided|Mucopolysaccharidosis, MPS-IV-B;Infantile GM1 gangliosidosis;GM1 gangliosidosis type 3;GM1 gangliosidosis type 2
★★☆☆2026→ Residue 273
NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu)Pathogenic
Mucopolysaccharidosis, MPS-IV-B|not provided|GM1 gangliosidosis type 3;Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis type 2;Infantile GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis|Spondyloepiphyseal dysplasia|GM1 gangliosidosis
★★☆☆2026→ Residue 438
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr)Pathogenic
GM1 gangliosidosis type 3|GM1 gangliosidosis type 3;Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis type 2;Infantile GM1 gangliosidosis|Infantile GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B
★★☆☆2026→ Residue 51
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)Pathogenic
not provided|GM1 gangliosidosis type 3;Infantile GM1 gangliosidosis;GM1 gangliosidosis type 2;Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B|Mucopolysaccharidosis, MPS-IV-B|Infantile GM1 gangliosidosis
★★☆☆2026→ Residue 155
NM_000404.4(GLB1):c.572G>A (p.Ser191Asn)Pathogenic
Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis type 2;GM1 gangliosidosis type 3;Infantile GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B
★★☆☆2026→ Residue 191
NM_000404.4(GLB1):c.443G>A (p.Arg148His)Pathogenic
Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis type 2;GM1 gangliosidosis type 3;Mucopolysaccharidosis, MPS-IV-B;Infantile GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis
★★☆☆2026→ Residue 148
NM_000404.4(GLB1):c.699del (p.Gln234fs)Pathogenic
GM1 gangliosidosis|not provided|GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis type 2;Infantile GM1 gangliosidosis;GM1 gangliosidosis type 3;Mucopolysaccharidosis, MPS-IV-B|Mucopolysaccharidosis, MPS-IV-B
★★☆☆2026→ Residue 234
NM_000404.4(GLB1):c.1398_1399del (p.Gly467fs)Pathogenic
GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B|Mucopolysaccharidosis, MPS-IV-B
★★☆☆2026→ Residue 467
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala)Pathogenic
Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis type 3;Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis type 2;Infantile GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis|GM1 gangliosidosis|not provided|GM1 gangliosidosis type 3
★★☆☆2026→ Residue 500
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser)Pathogenic
GM1 gangliosidosis type 3;Mucopolysaccharidosis, MPS-IV-B;Infantile GM1 gangliosidosis;GM1 gangliosidosis type 2|not provided|Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis|GM1 gangliosidosis|GLB1-related disorder|Mucopolysaccharidosis, MPS-IV-B|Lung cancer
★★☆☆2026→ Residue 148
NM_000404.4(GLB1):c.602G>A (p.Arg201His)Pathogenic
not provided|GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis type 2|Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis|Infantile GM1 gangliosidosis|GM1 gangliosidosis type 2;Mucopolysaccharidosis, MPS-IV-B;Infantile GM1 gangliosidosis;GM1 gangliosidosis type 3
★★☆☆2026→ Residue 201
NM_000404.4(GLB1):c.733+1G>APathogenic
GM1 gangliosidosis type 3;Mucopolysaccharidosis, MPS-IV-B;Infantile GM1 gangliosidosis;GM1 gangliosidosis type 2|Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis|not provided|Mucopolysaccharidosis, MPS-IV-B
★★☆☆2026
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln)Pathogenic
GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B|Infantile GM1 gangliosidosis;GM1 gangliosidosis type 3;GM1 gangliosidosis type 2;Mucopolysaccharidosis, MPS-IV-B|not provided|Infantile GM1 gangliosidosis|GLB1-related disorder|GM1 gangliosidosis type 2|GM1 gangliosidosis type 3|Mucopolysaccharidosis, MPS-IV-B
★★☆☆2026→ Residue 442
NM_000404.4(GLB1):c.846del (p.Thr283fs)Pathogenic
Infantile GM1 gangliosidosis;GM1 gangliosidosis type 2;Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis type 3|GM1 gangliosidosis type 2|GM1 gangliosidosis|GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B|Mucopolysaccharidosis, MPS-IV-B
★★☆☆2025→ Residue 283
NM_000404.4(GLB1):c.902C>T (p.Ala301Val)Pathogenic
not provided|Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B|GLB1-related disorder|GM1 gangliosidosis
★★☆☆2025→ Residue 301