NM_005562.3(LAMC2):c.3328+1G>APathogenic
not provided|Epidermolysis bullosa, junctional 3A, intermediate;Epidermolysis bullosa, junctional 3B, severe
★★☆☆2026
NM_005562.3(LAMC2):c.640+1G>ALikely pathogenic
not provided|Epidermolysis bullosa, junctional 3A, intermediate;Epidermolysis bullosa, junctional 3B, severe
★★☆☆2026
NM_005562.3(LAMC2):c.1045C>T (p.Arg349Ter)Pathogenic
Junctional epidermolysis bullosa|not provided|Epidermolysis bullosa, junctional 3B, severe;Epidermolysis bullosa, junctional 3A, intermediate
★★☆☆2026→ Residue 349
NM_005562.3(LAMC2):c.1350C>A (p.Tyr450Ter)Pathogenic
not provided
★★☆☆2025→ Residue 450
NM_005562.3(LAMC2):c.3365T>G (p.Leu1122Ter)Pathogenic
not provided|Abnormality of the skin|Epidermolysis bullosa, junctional 3B, severe
★★☆☆2025→ Residue 1122
NM_005562.3(LAMC2):c.508C>T (p.Arg170Ter)Pathogenic
not provided|Junctional epidermolysis bullosa
★★☆☆2025→ Residue 170
NM_005562.3(LAMC2):c.3385C>T (p.Arg1129Ter)Pathogenic
Junctional epidermolysis bullosa gravis of Herlitz|not provided|Junctional epidermolysis bullosa, non-Herlitz type|Epidermolysis bullosa, junctional 3B, severe|Junctional epidermolysis bullosa
★★☆☆2024→ Residue 1129
NM_005562.3(LAMC2):c.136C>T (p.Gln46Ter)Pathogenic
not provided|Epidermolysis bullosa, junctional 3B, severe
★★☆☆2024→ Residue 46
NM_005562.3(LAMC2):c.1715-2A>GLikely pathogenic
not provided|Epidermolysis bullosa, junctional 3A, intermediate;Epidermolysis bullosa, junctional 3B, severe
★★☆☆2024
NM_005562.3(LAMC2):c.1065C>G (p.Tyr355Ter)Pathogenic
Junctional epidermolysis bullosa gravis of Herlitz|Epidermolysis bullosa, junctional 3B, severe|Epidermolysis bullosa, junctional 3A, intermediate;Epidermolysis bullosa, junctional 3B, severe
★★☆☆2024→ Residue 355
NM_005562.3(LAMC2):c.2006_2012del (p.Ile669fs)Pathogenic
Junctional epidermolysis bullosa gravis of Herlitz|not provided|Junctional epidermolysis bullosa|Epidermolysis bullosa, junctional 3A, intermediate;Epidermolysis bullosa, junctional 3B, severe
★★☆☆2024→ Residue 669
NM_005562.3(LAMC2):c.1924G>T (p.Gly642Ter)Pathogenic
not provided|Epidermolysis bullosa, junctional 3A, intermediate;Epidermolysis bullosa, junctional 3B, severe
★★☆☆2024→ Residue 642
NM_005562.3(LAMC2):c.2074C>T (p.Gln692Ter)Pathogenic
Junctional epidermolysis bullosa|not provided|Epidermolysis bullosa, junctional 3A, intermediate;Epidermolysis bullosa, junctional 3B, severe
★★☆☆2024→ Residue 692
NM_005562.3(LAMC2):c.667C>T (p.Arg223Ter)Pathogenic
Junctional epidermolysis bullosa gravis of Herlitz|not provided|Epidermolysis bullosa, junctional 3A, intermediate;Epidermolysis bullosa, junctional 3B, severe
★★☆☆2024→ Residue 223
NM_005562.3(LAMC2):c.1782_1783del (p.Lys594fs)Pathogenic
Junctional epidermolysis bullosa gravis of Herlitz|Junctional epidermolysis bullosa|not provided|Epidermolysis bullosa, junctional 3A, intermediate;Epidermolysis bullosa, junctional 3B, severe
★★☆☆2024→ Residue 594
NM_005562.3(LAMC2):c.268+1G>ALikely pathogenic
Junctional epidermolysis bullosa gravis of Herlitz|not provided|Epidermolysis bullosa, junctional 3A, intermediate;Epidermolysis bullosa, junctional 3B, severe
★★☆☆2024
NM_005562.3(LAMC2):c.146_150dup (p.Phe51fs)Pathogenic
Junctional epidermolysis bullosa gravis of Herlitz|not provided|LAMC2-related disorder|Epidermolysis bullosa, junctional 3A, intermediate;Epidermolysis bullosa, junctional 3B, severe
★★☆☆2024→ Residue 51
NM_005562.3(LAMC2):c.2489dup (p.Leu830fs)Pathogenic
not provided|Junctional epidermolysis bullosa
★★☆☆2023→ Residue 830
NM_005562.3(LAMC2):c.733C>T (p.Arg245Ter)Pathogenic
Junctional epidermolysis bullosa|not provided|Epidermolysis bullosa, junctional 3A, intermediate
★★☆☆2023→ Residue 245
NM_005562.3(LAMC2):c.134_137del (p.Arg45fs)Pathogenic
Junctional epidermolysis bullosa gravis of Herlitz|not provided|Epidermolysis bullosa, junctional 3A, intermediate;Epidermolysis bullosa, junctional 3B, severe
★★☆☆2023→ Residue 45