NM_031483.7(ITCH):c.394dup (p.Ile132fs)Pathogenic
Syndromic multisystem autoimmune disease due to ITCH deficiency|not provided
★★☆☆2024→ Residue 132
NM_031483.7(ITCH):c.378_394del (p.Lys126fs)Pathogenic
Syndromic multisystem autoimmune disease due to ITCH deficiency
★☆☆☆2025→ Residue 126
NM_031483.7(ITCH):c.1300_1303del (p.Leu434fs)Pathogenic
Syndromic multisystem autoimmune disease due to ITCH deficiency
★☆☆☆2025→ Residue 434
NM_031483.7(ITCH):c.337+1G>ALikely pathogenic
Syndromic multisystem autoimmune disease due to ITCH deficiency
★☆☆☆2025
NM_031483.7(ITCH):c.1737C>G (p.Tyr579Ter)Pathogenic
Syndromic multisystem autoimmune disease due to ITCH deficiency
★☆☆☆2025→ Residue 579
NM_031483.7(ITCH):c.2214+1G>TLikely pathogenic
Syndromic multisystem autoimmune disease due to ITCH deficiency
★☆☆☆2025
NM_031483.7(ITCH):c.361C>T (p.Gln121Ter)Pathogenic
Syndromic multisystem autoimmune disease due to ITCH deficiency
★☆☆☆2024→ Residue 121
NM_031483.7(ITCH):c.3G>A (p.Met1Ile)Likely pathogenic
Syndromic multisystem autoimmune disease due to ITCH deficiency
★☆☆☆2024→ Residue 1
NM_031483.7(ITCH):c.1569+1G>TLikely pathogenic
Syndromic multisystem autoimmune disease due to ITCH deficiency
★☆☆☆2023
NM_031483.7(ITCH):c.1664G>A (p.Trp555Ter)Pathogenic
Syndromic multisystem autoimmune disease due to ITCH deficiency
★☆☆☆2023→ Residue 555
NM_031483.7(ITCH):c.194G>A (p.Trp65Ter)Pathogenic
Syndromic multisystem autoimmune disease due to ITCH deficiency
★☆☆☆2023→ Residue 65
NM_031483.7(ITCH):c.1099_1140+38dupLikely pathogenic
Syndromic multisystem autoimmune disease due to ITCH deficiency
★☆☆☆2022
NM_031483.7(ITCH):c.2334del (p.Ile778fs)Pathogenic
Syndromic multisystem autoimmune disease due to ITCH deficiency
★☆☆☆2022→ Residue 778
NM_031483.7(ITCH):c.2004del (p.Glu669fs)Likely pathogenic
not provided
★☆☆☆2021→ Residue 669
NM_031483.7(ITCH):c.2119C>T (p.Arg707Ter)Pathogenic
Syndromic multisystem autoimmune disease due to ITCH deficiency
★☆☆☆2021→ Residue 707
NM_031483.7(ITCH):c.2256G>A (p.Trp752Ter)Pathogenic
Syndromic multisystem autoimmune disease due to ITCH deficiency
★☆☆☆2020→ Residue 752
NM_031483.7(ITCH):c.1952+3_1952+6delLikely pathogenic
Syndromic multisystem autoimmune disease due to ITCH deficiency
★☆☆☆2019
NM_031483.7(ITCH):c.2005_2008del (p.Glu669fs)Pathogenic
Syndromic multisystem autoimmune disease due to ITCH deficiency
☆☆☆☆2020→ Residue 669
NM_031483.7(ITCH):c.603del (p.Leu202fs)Pathogenic
Syndromic multisystem autoimmune disease due to ITCH deficiency
☆☆☆☆2020→ Residue 202
NM_031483.7(ITCH):c.1954G>T (p.Glu652Ter)Pathogenic
Syndromic multisystem autoimmune disease due to ITCH deficiency
☆☆☆☆2020→ Residue 652