NM_002204.4(ITGA3):c.240dup (p.Pro81fs)Pathogenic
not provided|Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
★★☆☆2025→ Residue 81
NM_002204.4(ITGA3):c.821G>A (p.Arg274Gln)Likely pathogenic
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
★★☆☆2024→ Residue 274
NM_002204.4(ITGA3):c.2070+1G>APathogenic
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
★★☆☆2024
NM_002204.4(ITGA3):c.2623C>T (p.Arg875Ter)Likely pathogenic
not provided|Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome|Malignant tumor of esophagus
★★☆☆2022→ Residue 875
NM_002204.4(ITGA3):c.2577_2583+13delPathogenic
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
★☆☆☆2025
NM_002204.4(ITGA3):c.1528C>T (p.Arg510Ter)Pathogenic
not provided
★☆☆☆2024→ Residue 510
NM_002204.4(ITGA3):c.446G>A (p.Trp149Ter)Likely pathogenic
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
★☆☆☆2024→ Residue 149
NM_002204.4(ITGA3):c.2641G>T (p.Gly881Ter)Likely pathogenic
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
★☆☆☆2024→ Residue 881
NM_002204.4(ITGA3):c.2261_2264dup (p.Val756fs)Likely pathogenic
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
★☆☆☆2024→ Residue 756
NM_002204.4(ITGA3):c.665-1G>ALikely pathogenic
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
★☆☆☆2024
NM_002204.4(ITGA3):c.*32-1G>CLikely pathogenic
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
★☆☆☆2024
NM_002204.4(ITGA3):c.493C>T (p.Arg165Ter)Likely pathogenic
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
★☆☆☆2024→ Residue 165
NM_002204.4(ITGA3):c.2219+1G>ALikely pathogenic
not provided|ITGA3-related disorder
★☆☆☆2024
NM_002204.4(ITGA3):c.2299delLikely pathogenic
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
★☆☆☆2024
NM_002204.4(ITGA3):c.2401-11_2409delLikely pathogenic
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
★☆☆☆2024
NM_002204.4(ITGA3):c.1469+2T>ALikely pathogenic
not provided
★☆☆☆2023
NM_002204.4(ITGA3):c.826C>T (p.Arg276Ter)Likely pathogenic
ITGA3-related disorder
★☆☆☆2023→ Residue 276
NM_002204.4(ITGA3):c.2794C>T (p.Arg932Ter)Likely pathogenic
ITGA3-related disorder
★☆☆☆2023→ Residue 932
NM_002204.4(ITGA3):c.1387C>T (p.Arg463Trp)Likely pathogenic
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
★☆☆☆2021→ Residue 463
NM_002204.4(ITGA3):c.1912A>T (p.Lys638Ter)Likely pathogenic
not provided
★☆☆☆2021→ Residue 638