Sugi Variant

Sugi Variant/TPP2

TPP2 — 797 ClinVar variants

All ClinVar germline TPP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 314 flagged for review →

15 Pathogenic · 4 Likely pathogenic · 5 Conflicting · 40 Benign · 3 Benign/Likely benign · 390 Likely benign · 340 Uncertain significance

Full TPP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 314

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 3

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 157

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 157

Predictors split 154

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 154

All TPP2 variants

Pathogenic 15

  • p.Arg1082Ter Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gln855Ter Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gly1156fs Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gly441fs Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Leu807Ter Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Pro948fs Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ser1024Ter Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Tyr356fs Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Tyr616fs Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Tyr873Ter Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Val812fs Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2394-550_2952+659del No assertion criteria immunodeficiency 78 with autoimmunity and developmental delay
  • p.Ala145fs No assertion criteria immunodeficiency 78 with autoimmunity and developmental delay
  • p.Gly500Asp No assertion criteria immunodeficiency 78 with autoimmunity and developmental delay
  • p.Tyr781Ter No assertion criteria immunodeficiency 78 with autoimmunity and developmental delay

Likely pathogenic 4

  • c.2873+1G>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2952+1G>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Arg889Ter Single submitter
  • p.Tyr1005fs Single submitter immunodeficiency 78 with autoimmunity and developmental delay

Conflicting classifications of pathogenicity 5

  • c.166-4dup Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ala41Thr Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Arg225Gly Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Lys1112Arg Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Thr1160Ser Single submitter Inborn genetic diseases ⚠

Benign 40

  • c.1245-20T>A Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1837-15G>A Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2021-20TTCT[2] Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2952+10A>G Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3240+19G>A Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.620+10G>A Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ala1198= Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ser260= Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Val512Ile Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Val634= Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Val65Ile Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1144+16del Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1393+26C>T Single submitter
  • c.1679-23A>G Single submitter
  • c.1679-94C>T Single submitter
  • c.1837-54G>C Single submitter
  • c.1837-5dup Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1914-40T>C Single submitter
  • c.2020+84G>A Single submitter
  • c.2021-86dup Single submitter
  • c.2176-87_2176-86insTA Single submitter
  • c.2628+23del Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2629-4del Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2873+119dup Single submitter
  • c.2873+36G>T Single submitter
  • c.295-7del Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.295-7dup Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.295-8_295-7del Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2952+17dup Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2992-170A>G Single submitter
  • c.3144-50G>C Single submitter
  • c.3579+110G>A Single submitter
  • c.3580-27C>A Single submitter
  • c.3580-67G>T Single submitter
  • c.784+105C>T Single submitter
  • c.939+73C>G Single submitter
  • c.*52G>A Single submitter
  • p.Ala963= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Asn1056= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Asn484= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency

Benign/Likely benign 3

  • c.1393+9G>A Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.621-7T>C Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Asn161= Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency

Likely benign 390

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1016+17A>G Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2020+19T>A Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Asn1227= Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gly203= Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.His264= Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Leu604= Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Lys803= Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1016+12T>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1017-11C>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1017-16A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1144+18G>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1145-10C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1145-6C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1145-8T>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1244+13A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1244+17C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1244+18G>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1244+19C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1244+20G>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1244+7_1244+8delinsTG Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1244+8del Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1245-12C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1393+11T>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1393+19G>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1393+7G>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1393+8T>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1394-11C>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1394-15G>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1394-16T>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1509+17G>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1509+18A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1509+19A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1510-10T>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1510-14A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1510-16A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1510-19T>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.165+12C>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.166-15T>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.166-17A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.166-5T>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1678+19G>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1678+8A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1679-14C>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1679-4C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1679-8C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1836+16dup Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1836+17A>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1836+7A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1836+9G>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1837-11C>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1837-16del Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1837-17C>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1837-18dup Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1837-20_1837-17del Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1837-8T>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1913+18C>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1913+18C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1913+9C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1914-12A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1914-18A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1914-18A>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1914-9_1914-6del Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2020+12T>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2020+20G>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2020+8A>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2020+8A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2020+9A>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2021-10_2021-8del Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2021-11T>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2021-12T>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2021-14_2021-12del Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2021-14C>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2021-15_2021-8del Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2021-21C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2175+12TA[3] Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2175+7T>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2176-10T>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2176-13C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2176-14A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2176-5T>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2292+13del Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2292+14C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2292+19T>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2293-15A>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2293-15A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2293-9C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2490+13C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2490+18A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2491-18T>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2491-18T>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2628+11G>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2628+15G>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2628+9T>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2629-15_2629-13del Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2629-5T>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2629-7T>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2873+14T>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2873+20A>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2873+9T>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2874-13T>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2874-3del Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2874-5T>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2874-9C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.294+7C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.295-13T>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.295-19A>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.295-6C>T Single submitter
  • c.295-6dup Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.295-7T>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2992-12C>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2992-14C>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2992-16C>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2992-20A>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2992-4G>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2992-5C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3143+10T>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3144-13_3144-11del Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3144-14T>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3144-15T>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3144-17C>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3144-18T>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3144-9C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3240+11T>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3240+16del Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3240+8A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3240+8A>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3241-16C>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3241-6C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3241-8C>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3241-8C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3372-10del Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3372-9G>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3579+14T>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3579+15T>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3579+8T>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3580-13T>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3580-16A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3580-7A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3580-8C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3580-9A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3699+14A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3699+17A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3700-16T>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3700-17_3700-15del Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3700-20_3700-16del Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3700-4G>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.390+11A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.390+16G>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.390+7T>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.391-10G>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.391-20T>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.495+13C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.495+14G>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.495+15A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.495+17T>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.495+20A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.496-18A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.620+19A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.620+9C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.621-15C>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.621-15C>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.621-15C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.621-6T>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.784+13A>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.784+14G>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.784+21del Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.784+7C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.784+8A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.785-15C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.785-6C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.785-7T>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.939+15G>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.940-20A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ala1157= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ala1162= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ala1202= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ala1244= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ala149= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ala24= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ala24Ser Single submitter Inborn genetic diseases
  • p.Ala286= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ala394= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ala4= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ala419= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ala426= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ala432= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ala468= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ala486= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ala489= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ala51= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ala700= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ala721= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ala759= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ala766= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ala929= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ala970= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Arg1039= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Arg1116= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Arg133= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Arg36= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Arg440= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Arg536= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Arg660= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Arg661= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Asn1230= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Asn362= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Asn363= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Asn491= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Asn622= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Asn946= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Asp1155= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Asp1191= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Asp139= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Asp417= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Asp472= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Asp885= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Cys1260= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Cys150= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Cys592= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Cys733= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gln1075= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gln1152= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gln153= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gln177= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gln513= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gln591= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gln658= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gln896= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Glu1033= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Glu1167= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Glu1170= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Glu154= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Glu214= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Glu331= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Glu395= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Glu665= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Glu7= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Glu705= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Glu821= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Glu895= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Glu979= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gly1209= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gly1211= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gly192= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gly22= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gly284= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gly307= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gly35= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gly361= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gly364= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gly37= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gly418= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gly447= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gly498= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gly53= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gly548= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gly74= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gly870= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gly966= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.His1074= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.His1150= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.His13= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.His142= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.His201= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.His499= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ile1089= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ile1100Met Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ile137= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ile210= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ile271= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ile296= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ile355= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ile631= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ile64= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ile859= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ile89= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Leu1076= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Leu1133= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Leu1144= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Leu1212= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Leu125= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Leu169= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Leu180= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Leu181= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Leu218= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Leu301= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Leu402= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Leu43= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Leu444= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Leu511= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Leu846= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Leu847= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Leu856= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Leu914= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Lys1026= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Lys1028= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Lys1059= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Lys134= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Lys321= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Lys351= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency

Uncertain significance 340

Showing the top 300 by review status; the full set is in the sitemap.

  • p.Ala1143Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala460Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala619Thr Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ala648Asp Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Arg1072Gln Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Arg598His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg893Cys Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Arg902His Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1192Ser Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Asn1227Ser Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Asn771Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asp86His Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Cys1231Tyr Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Cys710Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Gln1154Pro Multiple submitters immunodeficiency 78 with autoimmunity and developmental delay ⚠
  • p.Gln290Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1025Gly Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Glu132Lys Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Glu204Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu278Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Glu851Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Gly113Asp Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.His1099Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His1099Asp Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.His1147Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His142Gln Multiple submitters Inborn genetic diseases ⚠
  • p.His320Arg Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ile424Met Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ile424Val Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ile492Met Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ile631Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ile67Thr Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ile68Thr Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ile746Asn Multiple submitters immunodeficiency 78 with autoimmunity and developmental delay ⚠
  • p.Ile959Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Leu174His Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Lys136Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Lys220Gln Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Met1111Val Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Pro1009Ser Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Pro1009Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Pro106Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1252Arg Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Pro31Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Pro31Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro625Leu Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Pro667Leu Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Pro806Thr Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ser1131Phe Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ser25Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Ser801Asn Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Thr1121Ala Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Thr1151Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr222Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Thr515Ala Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Thr676Ile Multiple submitters immunodeficiency 78 with autoimmunity and developmental delay ⚠
  • p.Thr78Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr510Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Val1070Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val1261Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val194Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val205Ile Multiple submitters Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Val223Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val246Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val47Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val56Ile Multiple submitters Inborn genetic diseases ⚠
  • c.1245-10T>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1245-16A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1245-179_1245-6del Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1393+6C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1509+6G>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.1678+11G>C Single submitter
  • c.1906_1913+18dup Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2020+3A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2393+5C>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.2629-3C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3579+5C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.3579+6G>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.495+13C>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.495+4G>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.496-3T>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.620+3A>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.621-3T>C Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.784+5C>A Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.784+5C>T Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.784+6C>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.939+9_939+12del Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • c.940-17C>G Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ala1078Thr Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ala1092Thr Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ala1104Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ala1153Pro Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ala1162Glu Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ala1162Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ala1198Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ala1202Pro Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ala149Ser Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ala159Asp Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ala24Thr Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ala416Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ala489Thr Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ala543Pro Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ala5Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ala623Thr Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ala636Thr Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ala637Gly Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ala637Pro Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ala648Gly Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ala700Thr Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ala759Gly Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Arg1085Gly Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Arg133Gln Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Arg282Gln Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Arg29= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Arg36Pro Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Arg531Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg602Gly Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Arg660Gln Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Arg699Thr Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Arg736His Single submitter Inborn genetic diseases ⚠
  • p.Arg772Cys Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Arg798Cys Single submitter ⚠
  • p.Arg817Gly Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Arg865Lys Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Arg889Gln Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Asn1056Lys Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Asn1087Lys Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Asn1192His Single submitter Inborn genetic diseases ⚠
  • p.Asn1227Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn160Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn160Ser Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Asn161Lys Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Asn161Ser Single submitter ⚠
  • p.Asn213Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn213Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn337Asp Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Asn469Ser Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Asn470Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn558Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn771Thr Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Asn827Lys Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Asn925Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn938Ser Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Asp1023Asn Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Asp1040Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp1077His Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Asp1174Tyr Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Asp190Asn Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Asp323Glu Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Asp509Glu Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Asp546Glu Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Asp646Glu Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Asp66Ala Single submitter Inborn genetic diseases ⚠
  • p.Asp747His Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Asp957del Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Cys1260Arg Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Cys28Gly Single submitter immunodeficiency 78 with autoimmunity and developmental delay ⚠
  • p.Cys582Arg Single submitter Inborn genetic diseases ⚠
  • p.Cys710Arg Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Cys787Phe Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Cys844Arg Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Gln231Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln581Arg Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Gln591His Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Gln658His Single submitter Inborn genetic diseases ⚠
  • p.Gln776Glu Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Gln862Arg Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Gln896Glu Single submitter Inborn genetic diseases ⚠
  • p.Glu1060Gly Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Glu1182Lys Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Glu1226Asp Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Glu148Val Single submitter Inborn genetic diseases ⚠
  • p.Glu154Ala Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Glu179Lys Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Glu214Lys Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Glu232Gln Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Glu240Ala Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Glu278Gly Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Glu316Gly Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Glu493= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Glu612Lys Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Glu720Gly Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Glu782Lys Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Glu979Asp Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Gly1016Ser Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Gly1156Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly1164Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly1239= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gly162Ser Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Gly288Ser Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Gly307Asp Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Gly37Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly548Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Gly607= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Gly607Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Gly60Glu Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Gly669Asp Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.His111Leu Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.His1201Tyr Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.His201Arg Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.His264Pro Single submitter Inborn genetic diseases ⚠
  • p.His352Tyr Single submitter Inborn genetic diseases ⚠
  • p.His499Arg Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.His499Asn Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.His609Arg Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ile1054Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ile1097Met Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ile1122Thr Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ile114Leu Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ile114Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ile137Leu Single submitter Inborn genetic diseases ⚠
  • p.Ile170Met Single submitter Inborn genetic diseases ⚠
  • p.Ile248Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ile294Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ile40Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ile431Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ile502Phe Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ile618Thr Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ile631Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ile68Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ile734Thr Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ile746Thr Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ile750Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ile859Thr Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ile89Met Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ile922Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ile99Phe Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Leu1006Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Leu1041Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Leu1144Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Leu1189Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Leu198Phe Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Leu301Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Leu39Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Leu511Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Leu567Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu626Phe Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Leu647= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Leu784Pro Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Leu914Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu975Ser Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Lys1048= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Lys109Arg Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Lys1140Arg Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Lys136Ile Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Lys168Thr Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Lys171Glu Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Lys61Thr Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Lys805Thr Single submitter Inborn genetic diseases ⚠
  • p.Lys832Gln Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Lys864Arg Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Lys933Arg Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Lys98Glu Single submitter Inborn genetic diseases ⚠
  • p.Met1046Val Single submitter immunodeficiency 78 with autoimmunity and developmental delay ⚠
  • p.Met1126Thr Single submitter Inborn genetic diseases ⚠
  • p.Met1126Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Met1207Ile Single submitter Inborn genetic diseases ⚠
  • p.Met1254Ile Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Met1254Leu Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Met314Thr Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Met450Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Met54Thr Single submitter Inborn genetic diseases ⚠
  • p.Met54Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Phe120Val Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Phe236Ser Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Phe722Leu Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Phe773Ile Single submitter Inborn genetic diseases ⚠
  • p.Pro1008Ser Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Pro1063Leu Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Pro106Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro1117Ser Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Pro1117Thr Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Pro140Leu Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Pro191Ser Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Pro31Ser Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Pro365Arg Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Pro365Ser Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Pro52Ala Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Pro553Leu Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Pro553Ser Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Pro556Leu Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Pro621Ser Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Pro630Leu Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Pro713Thr Single submitter immunodeficiency 78 with autoimmunity and developmental delay ⚠
  • p.Pro786Ala Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Pro838Ala Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Pro84Leu Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Pro907Ser Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ser1017Asn Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ser1159Pro Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ser1171Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser1245Cys Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ser25Cys Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ser293Pro Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ser415= Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
  • p.Ser423Asn Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ser562Thr Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ser584Arg Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠
  • p.Ser703Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser711Cys Single submitter Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ⚠