NM_000228.3(LAMB3):c.628+1G>APathogenic
Junctional epidermolysis bullosa gravis of Herlitz|not provided|Junctional epidermolysis bullosa|Amelogenesis imperfecta type 1A
★★☆☆2026
NM_000228.3(LAMB3):c.2116del (p.Lys705_Ile706insTer)Pathogenic
not provided|Junctional epidermolysis bullosa gravis of Herlitz;Junctional epidermolysis bullosa, non-Herlitz type;Amelogenesis imperfecta type 1A
★★☆☆2026→ Residue 705
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter)Pathogenic
Junctional epidermolysis bullosa gravis of Herlitz|not provided|Junctional epidermolysis bullosa, non-Herlitz type|Amelogenesis imperfecta type 1A;Junctional epidermolysis bullosa gravis of Herlitz;Junctional epidermolysis bullosa, non-Herlitz type
★★☆☆2026→ Residue 569
NM_000228.3(LAMB3):c.285G>A (p.Trp95Ter)Pathogenic
not provided|Junctional epidermolysis bullosa gravis of Herlitz;Junctional epidermolysis bullosa, non-Herlitz type;Amelogenesis imperfecta type 1A
★★☆☆2026→ Residue 95
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter)Pathogenic
Junctional epidermolysis bullosa gravis of Herlitz|Junctional epidermolysis bullosa, non-Herlitz type|not provided|Junctional epidermolysis bullosa|Junctional epidermolysis bullosa, non-Herlitz type;Junctional epidermolysis bullosa gravis of Herlitz;Amelogenesis imperfecta type 1A|LAMB3-related disorder
★★☆☆2026→ Residue 635
NM_000228.3(LAMB3):c.2911_2938delPathogenic
Junctional epidermolysis bullosa gravis of Herlitz;Junctional epidermolysis bullosa, non-Herlitz type;Amelogenesis imperfecta type 1A|not provided
★★☆☆2026
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter)Pathogenic
Junctional epidermolysis bullosa gravis of Herlitz|not provided|Junctional epidermolysis bullosa, non-Herlitz type;Junctional epidermolysis bullosa gravis of Herlitz;Amelogenesis imperfecta type 1A|Junctional epidermolysis bullosa, non-Herlitz type|LAMB3-related disorder
★★☆☆2026→ Residue 42
NM_000228.3(LAMB3):c.1702C>T (p.Gln568Ter)Pathogenic
not provided|Junctional epidermolysis bullosa gravis of Herlitz|LAMB3-related disorder
★★☆☆2025→ Residue 568
NM_000228.3(LAMB3):c.463dup (p.Ser155fs)Pathogenic
Junctional epidermolysis bullosa gravis of Herlitz|not provided|Amelogenesis imperfecta type 1A;Junctional epidermolysis bullosa gravis of Herlitz;Junctional epidermolysis bullosa, non-Herlitz type
★★☆☆2025→ Residue 155
NM_000228.3(LAMB3):c.1676del (p.Gly558_Leu559insTer)Pathogenic
not provided|Junctional epidermolysis bullosa gravis of Herlitz;Junctional epidermolysis bullosa, non-Herlitz type;Amelogenesis imperfecta type 1A
★★☆☆2025→ Residue 558
NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter)Pathogenic
not provided|Amelogenesis imperfecta type 1A;Junctional epidermolysis bullosa gravis of Herlitz;Junctional epidermolysis bullosa, non-Herlitz type
★★☆☆2025→ Residue 339
NM_000228.3(LAMB3):c.3228+1G>APathogenic
not provided|Junctional epidermolysis bullosa|Junctional epidermolysis bullosa gravis of Herlitz;Junctional epidermolysis bullosa, non-Herlitz type;Amelogenesis imperfecta type 1A
★★☆☆2025
NM_000228.3(LAMB3):c.2269G>T (p.Gly757Ter)Pathogenic
not provided|Junctional epidermolysis bullosa
★★☆☆2025→ Residue 757
NM_000228.3(LAMB3):c.3G>A (p.Met1Ile)Likely pathogenic
not provided|Junctional epidermolysis bullosa
★★☆☆2025→ Residue 1
NM_000228.3(LAMB3):c.565-2A>GPathogenic
not provided|Junctional epidermolysis bullosa gravis of Herlitz;Junctional epidermolysis bullosa, non-Herlitz type|Junctional epidermolysis bullosa
★★☆☆2025
NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys)Pathogenic
Junctional epidermolysis bullosa, non-Herlitz type|not provided|Junctional epidermolysis bullosa|Junctional epidermolysis bullosa, non-Herlitz type;Junctional epidermolysis bullosa gravis of Herlitz;Amelogenesis imperfecta type 1A
★★☆☆2025→ Residue 210
NM_000228.3(LAMB3):c.1978C>T (p.Arg660Ter)Pathogenic
Junctional epidermolysis bullosa gravis of Herlitz|not provided|Amelogenesis imperfecta type 1A;Junctional epidermolysis bullosa gravis of Herlitz;Junctional epidermolysis bullosa, non-Herlitz type|Junctional epidermolysis bullosa, non-Herlitz type
★★☆☆2025→ Residue 660
NM_000228.3(LAMB3):c.31dup (p.Leu11fs)Pathogenic
Junctional epidermolysis bullosa gravis of Herlitz|not provided|Junctional epidermolysis bullosa, non-Herlitz type|Amelogenesis imperfecta type 1A;Junctional epidermolysis bullosa gravis of Herlitz;Junctional epidermolysis bullosa, non-Herlitz type|LAMB3-related disorder
★★☆☆2025→ Residue 11
NM_000228.3(LAMB3):c.2011del (p.Leu671fs)Pathogenic
Junctional epidermolysis bullosa gravis of Herlitz|Epidermolysis bullosa simplex 1A, generalized severe
★★☆☆2025→ Residue 671
NM_000228.3(LAMB3):c.241C>T (p.Arg81Ter)Pathogenic
not provided|Junctional epidermolysis bullosa|Amelogenesis imperfecta type 1A;Junctional epidermolysis bullosa gravis of Herlitz;Junctional epidermolysis bullosa, non-Herlitz type
★★☆☆2024→ Residue 81