NM_000213.5(ITGB4):c.794dup (p.Ala266fs)Pathogenic
Junctional epidermolysis bullosa with pyloric atresia|not provided|Epidermolysis bullosa, junctional 5A, intermediate;Junctional epidermolysis bullosa with pyloric atresia
★★☆☆2025→ Residue 266
NM_000213.5(ITGB4):c.2550+1G>APathogenic
Junctional epidermolysis bullosa with pyloric atresia|not provided
★★☆☆2025
NM_000213.5(ITGB4):c.1660C>T (p.Arg554Ter)Pathogenic
Junctional epidermolysis bullosa with pyloric atresia|Epidermolysis bullosa, junctional 5A, intermediate;Junctional epidermolysis bullosa with pyloric atresia|not provided
★★☆☆2025→ Residue 554
NM_000213.5(ITGB4):c.1860+1G>ALikely pathogenic
not provided
★★☆☆2025
NM_000213.5(ITGB4):c.3674G>A (p.Arg1225His)Pathogenic
Junctional epidermolysis bullosa with pyloric atresia|Junctional epidermolysis bullosa
★★☆☆2025→ Residue 1225
NM_000213.5(ITGB4):c.2254+1G>TPathogenic
not provided|Epidermolysis bullosa, junctional 5A, intermediate;Junctional epidermolysis bullosa with pyloric atresia|Cervical cancer
★★☆☆2025
NM_000213.5(ITGB4):c.600dup (p.Phe201fs)Pathogenic
not provided|Epidermolysis bullosa, junctional 5A, intermediate|Junctional epidermolysis bullosa with pyloric atresia
★★☆☆2024→ Residue 201
NM_000213.5(ITGB4):c.1135C>T (p.Arg379Ter)Pathogenic
Abnormality of the skin|not provided|Junctional epidermolysis bullosa with pyloric atresia;Epidermolysis bullosa, junctional 5A, intermediate
★★☆☆2024→ Residue 379
NM_000213.5(ITGB4):c.1860G>A (p.Ala620=)Pathogenic
not provided|Junctional epidermolysis bullosa with pyloric atresia;Epidermolysis bullosa, junctional 5A, intermediate
★★☆☆2024→ Residue 620
NM_000213.5(ITGB4):c.4355dup (p.Ser1454fs)Pathogenic
not provided|Junctional epidermolysis bullosa with pyloric atresia;Epidermolysis bullosa, junctional 5A, intermediate
★★☆☆2024→ Residue 1454
NM_000213.5(ITGB4):c.754C>T (p.Arg252Cys)Pathogenic
Epidermolysis bullosa, junctional 5A, intermediate;Junctional epidermolysis bullosa with pyloric atresia|not provided
★★☆☆2024→ Residue 252
NM_000213.5(ITGB4):c.5257C>T (p.Gln1753Ter)Pathogenic
not provided|Epidermolysis bullosa, junctional 5A, intermediate;Junctional epidermolysis bullosa with pyloric atresia
★★☆☆2024→ Residue 1753
NM_000213.5(ITGB4):c.3841C>T (p.Arg1281Trp)Pathogenic
Junctional epidermolysis bullosa with pyloric atresia|not provided|Junctional epidermolysis bullosa|Epidermolysis bullosa, junctional 5A, intermediate;Junctional epidermolysis bullosa with pyloric atresia
★★☆☆2024→ Residue 1281
NM_000213.5(ITGB4):c.5058_5064del (p.Ala1687fs)Pathogenic
not provided|Junctional epidermolysis bullosa with pyloric atresia;Epidermolysis bullosa, junctional 5A, intermediate
★★☆☆2024→ Residue 1687
NM_000213.5(ITGB4):c.997T>G (p.Tyr333Asp)Pathogenic
Junctional epidermolysis bullosa with pyloric atresia|Epidermolysis bullosa, junctional 5A, intermediate;Junctional epidermolysis bullosa with pyloric atresia
★★☆☆2024→ Residue 333
NM_000213.5(ITGB4):c.614del (p.Asn205fs)Pathogenic
not provided|Junctional epidermolysis bullosa with pyloric atresia;Epidermolysis bullosa, junctional 5A, intermediate
★★☆☆2024→ Residue 205
NM_000213.5(ITGB4):c.3793+1G>APathogenic
Junctional epidermolysis bullosa with pyloric atresia|not provided
★★☆☆2024
NM_000213.5(ITGB4):c.1614del (p.Glu537_Tyr538insTer)Pathogenic
not provided|Junctional epidermolysis bullosa with pyloric atresia;Epidermolysis bullosa, junctional 5A, intermediate
★★☆☆2024→ Residue 537
NM_000213.5(ITGB4):c.658del (p.Leu220fs)Pathogenic
not provided|Junctional epidermolysis bullosa with pyloric atresia;Epidermolysis bullosa, junctional 5A, intermediate
★★☆☆2024→ Residue 220
NM_000213.5(ITGB4):c.3321_3331del (p.Asp1109fs)Pathogenic
Junctional epidermolysis bullosa with pyloric atresia|not provided|Epidermolysis bullosa, junctional 5A, intermediate;Junctional epidermolysis bullosa with pyloric atresia
★★☆☆2024→ Residue 1109