NM_001330588.2(TPP2):c.1066del (p.Tyr356fs)Pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
β
βββ2026β Residue 356
NM_001330588.2(TPP2):c.2952+1G>CLikely pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
β
βββ2025
NM_001330588.2(TPP2):c.3466_3467del (p.Gly1156fs)Pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
β
βββ2025β Residue 1156
NM_001330588.2(TPP2):c.2563C>T (p.Gln855Ter)Pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
β
βββ2024β Residue 855
NM_001330588.2(TPP2):c.3012del (p.Tyr1005fs)Likely pathogenic
Immunodeficiency 78 with autoimmunity and developmental delay
β
βββ2024β Residue 1005
NM_001330588.2(TPP2):c.1320_1321del (p.Gly441fs)Pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
β
βββ2023β Residue 441
NM_001330588.2(TPP2):c.3071C>G (p.Ser1024Ter)Pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
β
βββ2023β Residue 1024
NM_001330588.2(TPP2):c.3244C>T (p.Arg1082Ter)Pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
β
βββ2023β Residue 1082
NM_001330588.2(TPP2):c.1844dup (p.Tyr616fs)Pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
β
βββ2022β Residue 616
NM_001330588.2(TPP2):c.2420T>G (p.Leu807Ter)Pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
β
βββ2022β Residue 807
NM_001330588.2(TPP2):c.2665C>T (p.Arg889Ter)Likely pathogenic
not provided
β
βββ2022β Residue 889
NM_001330588.2(TPP2):c.2619T>G (p.Tyr873Ter)Pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
β
βββ2022β Residue 873
NM_001330588.2(TPP2):c.2873+1G>ALikely pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
β
βββ2021
NM_001330588.2(TPP2):c.2433_2434insA (p.Val812fs)Pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
β
βββ2018β Residue 812
NM_001330588.2(TPP2):c.2843del (p.Pro948fs)Pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
β
βββ2018β Residue 948
NM_001330588.2(TPP2):c.2394-550_2952+659delPathogenic
7 conditions|Immunodeficiency 78 with autoimmunity and developmental delay
ββββ2021
NM_001330588.2(TPP2):c.2343C>G (p.Tyr781Ter)Pathogenic
Immunodeficiency 78 with autoimmunity and developmental delay
ββββ2021β Residue 781
NM_001330588.2(TPP2):c.1499G>A (p.Gly500Asp)Pathogenic
Immunodeficiency 78 with autoimmunity and developmental delay
ββββ2021β Residue 500
NM_001330588.2(TPP2):c.433del (p.Ala145fs)Pathogenic
Immunodeficiency 78 with autoimmunity and developmental delay
ββββ2015β Residue 145