NM_005214.5(CTLA4):c.105C>A (p.Cys35Ter)Pathogenic
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
β
β
β
β2025β Residue 35
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu)Likely pathogenic
not provided|Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency|Celiac disease, susceptibility to, 3;Type 1 diabetes mellitus 12;Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency;Hashimoto thyroiditis;Systemic lupus erythematosus
β
β
β
β2025β Residue 137
NM_005214.5(CTLA4):c.416A>G (p.Tyr139Cys)Likely pathogenic
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency|not provided
β
β
β
β2025β Residue 139
NM_005214.5(CTLA4):c.94_101delinsTTCTCTTCATCA (p.Pro32fs)Pathogenic
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
β
β
β
β2025β Residue 32
NM_005214.5(CTLA4):c.457G>A (p.Asp153Asn)Pathogenic
not provided|Celiac disease, susceptibility to, 3;Hashimoto thyroiditis;Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency;Type 1 diabetes mellitus 12;Systemic lupus erythematosus|Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
β
β
β
β2025β Residue 153
NM_005214.5(CTLA4):c.223C>T (p.Arg75Trp)Pathogenic
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency|not provided
β
β
β
β2025β Residue 75
NM_005214.5(CTLA4):c.406C>T (p.Pro136Ser)Likely pathogenic
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
β
β
β
β2025β Residue 136
NM_005214.5(CTLA4):c.406C>G (p.Pro136Ala)Likely pathogenic
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
β
β
β
β2025β Residue 136
NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter)Pathogenic
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency|not provided|Inborn genetic diseases|Type 1 diabetes mellitus 12;Systemic lupus erythematosus;Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency;Celiac disease, susceptibility to, 3;Hashimoto thyroiditis
β
β
β
β2025β Residue 51
NM_005214.5(CTLA4):c.75del (p.Leu28fs)Pathogenic
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
β
β
β
β2025β Residue 28
NM_005214.5(CTLA4):c.71_72del (p.Leu24fs)Pathogenic
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
β
β
β
β2025β Residue 24
NM_005214.5(CTLA4):c.410C>G (p.Pro137Arg)Likely pathogenic
Inherited Immunodeficiency Diseases|Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
β
β
β
β2025β Residue 137
NM_005214.5(CTLA4):c.407C>T (p.Pro136Leu)Likely pathogenic
not provided|Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
β
β
β
β2025β Residue 136
NM_005214.5(CTLA4):c.81dup (p.Leu28fs)Pathogenic
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency|not provided
β
β
β
β2025β Residue 28
NM_005214.5(CTLA4):c.361del (p.Ala121fs)Pathogenic
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
β
β
β
β2025β Residue 121
NM_005214.5(CTLA4):c.209G>A (p.Arg70Gln)Likely pathogenic
Inherited Immunodeficiency Diseases|Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency|not provided
β
β
ββ2025β Residue 70
NM_005214.5(CTLA4):c.208C>T (p.Arg70Trp)Pathogenic
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency|not provided
β
β
ββ2025β Residue 70
NM_005214.5(CTLA4):c.436G>A (p.Gly146Arg)Pathogenic
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency|Inborn genetic diseases|CTLA4-related disorder
β
β
ββ2025β Residue 146
NM_005214.5(CTLA4):c.60G>A (p.Trp20Ter)Pathogenic
not provided|Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
β
β
ββ2024β Residue 20
NM_005214.5(CTLA4):c.226C>T (p.Gln76Ter)Pathogenic
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
β
β
ββ2022β Residue 76