NM_198129.4(LAMA3):c.8203C>T (p.Arg2735Ter)Pathogenic
Junctional epidermolysis bullosa gravis of Herlitz|not provided|Epidermolysis bullosa, junctional 2B, severe|Junctional epidermolysis bullosa
★★☆☆2026→ Residue 2735
NM_198129.4(LAMA3):c.6319-1G>ALikely pathogenic
Laryngo-onycho-cutaneous syndrome|Epidermolysis bullosa, junctional 2B, severe|Epidermolysis bullosa, junctional 2A, intermediate|not provided
★★☆☆2026
NM_198129.4(LAMA3):c.6808C>T (p.Arg2270Ter)Pathogenic
Junctional epidermolysis bullosa gravis of Herlitz|not provided|Epidermolysis bullosa, junctional 2B, severe|Laryngo-onycho-cutaneous syndrome;Epidermolysis bullosa, junctional 2A, intermediate;Epidermolysis bullosa, junctional 2B, severe
★★☆☆2026→ Residue 2270
NM_198129.4(LAMA3):c.6567del (p.Glu2190fs)Pathogenic
Junctional epidermolysis bullosa gravis of Herlitz|not provided|Junctional epidermolysis bullosa
★★☆☆2025→ Residue 2190
NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter)Pathogenic
not provided|Junctional epidermolysis bullosa gravis of Herlitz;Junctional epidermolysis bullosa, non-Herlitz type;Laryngo-onycho-cutaneous syndrome|Junctional epidermolysis bullosa, non-Herlitz type|Junctional epidermolysis bullosa gravis of Herlitz|LAMA3-related disorder
★★☆☆2025→ Residue 2981
NM_198129.4(LAMA3):c.5725-1G>ALikely pathogenic
not provided|Junctional epidermolysis bullosa
★★☆☆2025
NM_198129.4(LAMA3):c.1273+51C>TPathogenic
LAMA3-related disorder|Epidermolysis bullosa, junctional 2A, intermediate|Epidermolysis bullosa, junctional 2A, intermediate;Epidermolysis bullosa, junctional 2B, severe;Laryngo-onycho-cutaneous syndrome
★★☆☆2025
NM_198129.4(LAMA3):c.8043G>A (p.Ser2681=)Pathogenic
Laryngo-onycho-cutaneous syndrome;Epidermolysis bullosa, junctional 2A, intermediate;Epidermolysis bullosa, junctional 2B, severe|not provided
★★☆☆2025→ Residue 2681
NM_198129.4(LAMA3):c.6473+2T>ALikely pathogenic
not provided|Junctional epidermolysis bullosa
★★☆☆2025
NM_198129.4(LAMA3):c.7120C>T (p.Arg2374Ter)Pathogenic
not provided
★★☆☆2025→ Residue 2374
NM_000227.6(LAMA3):c.108del (p.Leu38fs)Pathogenic
Junctional epidermolysis bullosa gravis of Herlitz|not provided|Epidermolysis bullosa, junctional 2B, severe
★★☆☆2024→ Residue 38
NM_198129.4(LAMA3):c.5119C>T (p.Gln1707Ter)Pathogenic
Epidermolysis bullosa, junctional 2B, severe|not provided
★★☆☆2024→ Residue 1707
NM_000227.6(LAMA3):c.151dup (p.Val51fs)Pathogenic
Laryngo-onycho-cutaneous syndrome|Junctional epidermolysis bullosa gravis of Herlitz|not provided
★★☆☆2024→ Residue 51
NM_198129.4(LAMA3):c.8705del (p.Gln2902fs)Pathogenic
not provided|Epidermolysis bullosa, junctional 2A, intermediate;Epidermolysis bullosa, junctional 2B, severe;Laryngo-onycho-cutaneous syndrome
★★☆☆2024→ Residue 2902
NM_198129.4(LAMA3):c.5112+1G>ALikely pathogenic
Junctional epidermolysis bullosa gravis of Herlitz|not provided|Epidermolysis bullosa, junctional 2A, intermediate|Laryngo-onycho-cutaneous syndrome;Epidermolysis bullosa, junctional 2A, intermediate;Epidermolysis bullosa, junctional 2B, severe
★★☆☆2024
NM_198129.4(LAMA3):c.9642G>T (p.Lys3214Asn)Pathogenic
not provided|Junctional epidermolysis bullosa|Melanoma
★★☆☆2024→ Residue 3214
NM_198129.4(LAMA3):c.5049del (p.Cys1684fs)Pathogenic
Junctional epidermolysis bullosa gravis of Herlitz|not provided|Epidermolysis bullosa, junctional 2A, intermediate;Epidermolysis bullosa, junctional 2B, severe;Laryngo-onycho-cutaneous syndrome
★★☆☆2024→ Residue 1684
NM_198129.4(LAMA3):c.8436+1G>APathogenic
not provided|LAMA3-related disorder|Epidermolysis bullosa, junctional 2B, severe
★★☆☆2024
NM_198129.4(LAMA3):c.7204C>T (p.Arg2402Ter)Pathogenic
Junctional epidermolysis bullosa|not provided|Laryngo-onycho-cutaneous syndrome;Epidermolysis bullosa, junctional 2A, intermediate;Epidermolysis bullosa, junctional 2B, severe
★★☆☆2024→ Residue 2402
NM_198129.4(LAMA3):c.8599C>T (p.Gln2867Ter)Pathogenic
not provided|Epidermolysis bullosa, junctional 2A, intermediate|Epidermolysis bullosa, junctional 2A, intermediate;Laryngo-onycho-cutaneous syndrome;Epidermolysis bullosa, junctional 2B, severe
★★☆☆2024→ Residue 2867