Sugi Variant

Sugi Variant/DCLRE1C

DCLRE1C — 1122 ClinVar variants

All ClinVar germline DCLRE1C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 330 flagged for review →

64 Pathogenic · 21 Pathogenic/Likely pathogenic · 95 Likely pathogenic · 23 Conflicting · 30 Benign · 10 Benign/Likely benign · 470 Likely benign · 409 Uncertain significance

Full DCLRE1C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 330

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 2

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

Predictors lean, ClinVar uncertain 230

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 230

Predictors split 98

The independent predictors disagree with each other — read with care.

All DCLRE1C variants

Pathogenic 64

  • c.109+1G>T Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • c.161+2T>G Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Arg191Ter Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Arg383Ter Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Arg81Ter Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gly118Ter Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.His35Asp Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Ser119Ter Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Thr65Ile Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Tyr174Ter Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Tyr199Ter Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • c.362+1G>T Multiple submitters Athabaskan severe combined immunodeficiency
  • c.464+1G>A Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asp451fs Multiple submitters Omenn syndrome
  • p.Cys436Ter Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • c.109+1G>A Single submitter Athabaskan severe combined immunodeficiency
  • c.1156+1G>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.362+2T>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.362+2T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.465-1G>T Single submitter Athabaskan severe combined immunodeficiency
  • p.Ala438fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asp497delinsAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrThrValLysProArgLeuTyrTer Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asp501fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Cys61fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gln480Ter Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gln517Ter Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gln546Ter Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gln549Ter Single submitter severe combined immunodeficiency
  • p.Glu263Ter Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Glu439fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Glu439Ter Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Glu498Ter Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Glu502fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gly434fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gly515Ter Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.His151fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Ile159fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Leu110fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Leu187Ter Single submitter
  • p.Leu189fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Leu223Ter Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Leu429fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Lys424Ter Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Lys520fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Met234fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Phe416delinsLeuIleIlePheThrLysCysProSerPheThrTer Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Phe416fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Pro171Ter Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Pro426fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Ser161fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Ser220fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Ser503fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Ser516fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Thr275fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Trp267Ter Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Trp293Ter Single submitter Omenn syndrome
  • p.Trp489_Glu490delinsTer Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Trp489Ter Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Tyr163fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Tyr210fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Tyr407Ter Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Val107fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.972+1G>C No assertion criteria severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Lys103_Gln226del No assertion criteria severe combined immunodeficiency due to DCLRE1C deficiency

Pathogenic/Likely pathogenic 21

  • c.1156+2T>G Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • c.310_313del Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • c.465-1G>C Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • c.780+1del Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asp524_Ser525insTer Multiple submitters Omenn syndrome
  • p.Asp556fs Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Cys272Ter Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gln252Ter Multiple submitters Omenn syndrome
  • p.Glu423fs Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gly118Val Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gly154fs Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gly224fs Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Ile543fs Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Leu111fs Multiple submitters Omenn syndrome
  • p.Lys368fs Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Lys481fs Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Pro413fs Multiple submitters Omenn syndrome
  • p.Ser422Ter Multiple submitters severe combined immunodeficiency
  • p.Ser62fs Multiple submitters Omenn syndrome
  • p.Thr530fs Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Thr557fs Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency

Likely pathogenic 95

  • p.Ala28Pro Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asp136Asn Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Cys116Arg Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gly135Glu Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Ile16Thr Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Leu47Ter Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Leu69Ter Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Ser32Cys Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Ser32Phe Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Tyr60Ter Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • c.1061+1G>A Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • c.247-2A>G Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • c.306+2T>A Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • c.306+2T>C Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • c.465-2A>C Multiple submitters Omenn syndrome
  • c.465-2A>G Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • c.678+2T>G Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • c.780+1G>C Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Glu498fs Multiple submitters Omenn syndrome
  • p.Glu584fs Multiple submitters Athabaskan severe combined immunodeficiency
  • p.His200fs Multiple submitters Athabaskan severe combined immunodeficiency
  • p.Ser310fs Multiple submitters Omenn syndrome
  • c.110-2A>G Single submitter Athabaskan severe combined immunodeficiency
  • c.1156+1G>A Single submitter Omenn syndrome
  • c.1157-1_1162dup Single submitter
  • c.162-1G>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.162-2A>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.246+2T>G Single submitter Omenn syndrome
  • c.306+1G>A Single submitter Omenn syndrome
  • c.362+5G>C Single submitter Athabaskan severe combined immunodeficiency
  • c.363-2A>C Single submitter Athabaskan severe combined immunodeficiency
  • c.363-2A>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.426_464+123del Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.464+2T>C Single submitter Omenn syndrome
  • c.465-1_469del Single submitter Athabaskan severe combined immunodeficiency
  • c.465-1G>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.537+1G>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.538-1G>A Single submitter Omenn syndrome
  • c.538-1G>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.678+1G>A Single submitter Omenn syndrome
  • c.679-1G>A Single submitter Omenn syndrome
  • c.679-1G>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.781-1G>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.781-2A>G Single submitter Athabaskan severe combined immunodeficiency
  • c.86_306del Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.917+1G>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.918-1G>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.939_972+715del Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.972+1G>A Single submitter Athabaskan severe combined immunodeficiency
  • c.973-1G>A Single submitter Omenn syndrome
  • p.Ala482fs Single submitter Omenn syndrome
  • p.Arg138Thr Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asn536fs Single submitter Athabaskan severe combined immunodeficiency
  • p.Asp395fs Single submitter Omenn syndrome
  • p.Asp611fs Single submitter Omenn syndrome
  • p.Cys440fs Single submitter Omenn syndrome
  • p.Gln226Ter Single submitter Omenn syndrome
  • p.Gln363fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gln442Ter Single submitter Omenn syndrome
  • p.Gln593Ter Single submitter Omenn syndrome
  • p.Gln92fs Single submitter Omenn syndrome
  • p.Glu240Ter Single submitter Athabaskan severe combined immunodeficiency
  • p.Glu453Ter Single submitter Omenn syndrome
  • p.Glu462fs Single submitter Omenn syndrome
  • p.Glu505Ter Single submitter Omenn syndrome
  • p.Glu592fs Single submitter Omenn syndrome
  • p.Glu592Ter Single submitter Omenn syndrome
  • p.Gly126Asp Single submitter Omenn syndrome
  • p.Gly135Arg Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gly373Val Single submitter Omenn syndrome ⚠
  • p.Gly515fs Single submitter Omenn syndrome
  • p.His542fs Single submitter Athabaskan severe combined immunodeficiency
  • p.Leu110Arg Single submitter Omenn syndrome
  • p.Leu111Ter Single submitter Athabaskan severe combined immunodeficiency
  • p.Leu123Ter Single submitter Omenn syndrome
  • p.Leu139Ter Single submitter Omenn syndrome
  • p.Leu31Pro Single submitter Athabaskan severe combined immunodeficiency
  • p.Leu560fs Single submitter
  • p.Leu95fs Single submitter
  • p.Lys520Ter Single submitter Athabaskan severe combined immunodeficiency
  • p.Lys80fs Single submitter Athabaskan severe combined immunodeficiency
  • p.Met1Val Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Phe393fs Single submitter Omenn syndrome
  • p.Pro112Leu Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Pro117fs Single submitter Athabaskan severe combined immunodeficiency
  • p.Pro239fs Single submitter Omenn syndrome
  • p.Ser178fs Single submitter Athabaskan severe combined immunodeficiency
  • p.Ser362Xaa Single submitter Omenn syndrome
  • p.Ser607delinsGlyTyrLeuLeuTer Single submitter Omenn syndrome
  • p.Thr167_Phe168delinsMetLeu Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Thr71Pro Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Tyr214fs Single submitter Omenn syndrome
  • p.Tyr369Ter Single submitter Omenn syndrome
  • p.Tyr602_Ser603insTer Single submitter Omenn syndrome
  • p.Val381fs Single submitter Athabaskan severe combined immunodeficiency

Conflicting classifications of pathogenicity 23

  • c.306+14A>G Single submitter Omenn syndrome
  • p.Arg664Ter Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asn128= Single submitter Omenn syndrome
  • p.Asn456= Single submitter Omenn syndrome
  • p.Asp497= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asp569fs Single submitter Omenn syndrome
  • p.Cys597fs Single submitter Omenn syndrome
  • p.Gln554= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Glu462del Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Glu498Asp Single submitter Inborn genetic diseases ⚠
  • p.Ile570= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Ile586fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Ile596fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Leu70del Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Met121Thr Single submitter Omenn syndrome ⚠
  • p.Pro367= Single submitter Omenn syndrome
  • p.Ser152= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Ser290= Single submitter Omenn syndrome
  • p.Ser529= Single submitter Omenn syndrome
  • p.Ser534= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Ser567fs Single submitter Omenn syndrome
  • p.Tyr602fs Single submitter Athabaskan severe combined immunodeficiency
  • p.Val305= Single submitter Omenn syndrome

Benign 30

  • p.Arg76Thr Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Glu632Lys Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gly153Arg Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.His243Arg Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Lys428Asn Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Pro171Arg Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Ser320Cys Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • c.161+119A>G Multiple submitters
  • c.780+10C>T Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • c.781-17C>G Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Leu215= Multiple submitters severe combined immunodeficiency
  • c.109+176G>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.110-17del Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.162-16dup Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.362+86T>C Single submitter
  • c.362+9del Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.362+9dup Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.465-16dup Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.537+20C>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.*1125T>C Single submitter Omenn syndrome
  • c.*1287T>C Single submitter Omenn syndrome
  • c.*1339G>C Single submitter Omenn syndrome
  • c.*1390T>C Single submitter Omenn syndrome
  • c.*15T>G Single submitter
  • c.*752T>C Single submitter Omenn syndrome
  • c.*792A>C Single submitter Omenn syndrome
  • c.*848A>G Single submitter Omenn syndrome
  • c.*975G>A Single submitter Omenn syndrome
  • n.149T>C Single submitter
  • p.Leu479= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency

Benign/Likely benign 10

  • c.537+14G>A Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • c.918-14del Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • c.*12G>A Multiple submitters Omenn syndrome
  • c.*4T>C Multiple submitters
  • p.Asn336= Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asp501= Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gly515= Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Leu667= Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Pro12= Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Pro631= Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency

Likely benign 470

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

  • p.Ala140Val Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Arg191Gln Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Arg445His Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Cys597= Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Val186Leu Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Val57Phe Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • c.161+16A>C Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asp600= Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • p.His254= Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Leu51= Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • c.1061+12C>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.1061+15G>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.1061+15G>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.1061+16T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.1061+17T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.1061+19T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.1061+20G>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.1061+9T>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.1062-12G>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.1062-18T>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.1062-4T>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.1062-8C>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.1062-9dup Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.1062-9T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.109+10G>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.109+11G>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.109+12C>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.109+13T>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.109+14G>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.109+14G>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.109+16G>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.109+17C>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.109+17C>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.109+19T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.109+20C>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.109+7G>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.109+7G>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.109+8A>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.110-12T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.110-16G>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.110-3del Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.110-7T>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.110-7T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.110-7T>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.110-9T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.1156+11T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.1156+18G>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.1156+20G>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.1157-11T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.1157-14_1157-10del Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.1157-15TTGT[3] Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.1157-18_1157-16dup Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.1157-4A>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.1157-6C>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.161+13G>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.161+7T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.161+8A>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.161+9T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.162-10T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.162-14T>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.162-14T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.162-6T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.162-7C>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.246+10A>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.246+11T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.246+15T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.246+15T>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.246+16T>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.246+9T>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.247-10_247-6del Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.247-12T>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.247-16T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.247-4A>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.247-5T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.247-5T>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.247-7T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.306+13T>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.306+15A>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.306+18A>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.306+19T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.306+6_306+7insGATTTAATAATCA Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.306+7A>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.306+9A>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.307-13_307-9del Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.307-13A>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.307-14T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.307-17_307-14del Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.307-17C>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.307-17C>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.307-18T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.307-18T>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.362+14T>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.362+19T>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.362+8G>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.362+9G>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.363-12T>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.363-15A>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.363-23_363-15dup Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.363-4T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.363-5T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.464+10C>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.464+10C>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.464+12C>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.464+13G>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.464+13G>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.464+16T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.464+17A>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.464+18G>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.464+19G>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.464+19G>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.464+20T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.464+8G>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.464+8G>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.464+9C>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.464+9C>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.465-13T>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.465-16T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.465-17A>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.465-18A>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.465-8C>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.465-8C>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.537+10C>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.537+12T>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.537+13G>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.537+16G>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.537+17G>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.537+20C>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.537+7C>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.538-19T>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.538-20C>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.538-4C>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.538-6G>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.538-7T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.538-9C>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.678+10C>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.678+12G>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.678+12G>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.678+15C>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.678+16_678+19del Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.678+17T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.678+18T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.678+18T>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.678+19C>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.678+19C>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.678+7T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.678+8G>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.679-10T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.679-12T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.679-14A>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.679-14A>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.679-17T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.679-20G>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.679-4T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.679-6C>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.679-7G>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.780+13G>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.780+14T>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.780+16_780+30del Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.780+19C>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.780+20C>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.780+20C>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.780+7G>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.780+7G>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.780+9G>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.781-10T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.781-11_781-7del Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.781-11A>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.781-18G>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.781-20A>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.781-20A>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.781-4T>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.781-6T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.781-7T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.781-8T>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.781-9C>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.917+10C>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.917+12A>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.917+15T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.917+15T>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.917+17A>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.917+20G>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.917+4AG[2] Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.917+7G>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.917+9G>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.918-11C>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.918-14T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.918-18_918-17del Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.918-6C>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.918-6del Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.918-8C>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.972+12C>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.972+13C>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.972+13C>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.972+14A>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.972+14A>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.972+18_972+19insCATATAAT Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.972+9A>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.973-10C>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.973-14T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.973-18T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.973-18T>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.973-19_973-14del Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.973-19G>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.973-4C>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.973-7T>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.973-7T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.973-8T>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.973-8T>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.973-9T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.*44C>G Single submitter
  • c.*878C>T Single submitter Omenn syndrome
  • p.Ala140= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Ala208= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Ala255= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Ala28= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Ala337= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Ala378= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Ala44= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Ala588= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Ala659= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Ala9= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Arg138= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Arg18= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Arg196= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Arg236= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Arg257= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Arg27= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Arg297= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Arg299= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Arg383= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Arg445= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Arg565= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Arg579= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Arg608= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Arg664= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Arg81= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asn205= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asn230= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asn237= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asn302= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asn340= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asn594= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asn638= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asp158= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asp165= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asp20= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asp37= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asp390= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asp394= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asp483= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asp485= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asp552= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asp556= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asp604= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asp611= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asp644= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Cys116= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Cys256= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Cys315= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Cys61= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Cys687= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gln125= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gln141= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gln160= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gln175= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gln266= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gln431= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gln442= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gln480= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gln488= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gln535= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gln646= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gln668= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gln7= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Glu10= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Glu181= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Glu263= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Glu423= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Glu454= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Glu528= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Glu584= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Glu660= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Glu665= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Glu98= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gly135= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gly142= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gly211= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gly345= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gly373= Single submitter
  • p.Gly434= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gly474= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gly484= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gly514= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gly527= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gly550= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gly568= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gly677= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.His115= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.His151= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.His200= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency

Uncertain significance 409

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

  • c.247-1G>C Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • c.973-1801T>A Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Ala208Val Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ala44Asp Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ala9Thr Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Arg146Gly Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Arg18His Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Arg196Gln Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Arg196Trp Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Arg664Gln Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Arg81Gln Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Asn205Ile Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Asp170Gly Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Asp17Gly Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Asp97= Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Cys61Arg Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Gln141His Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Gln92His Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Glu104Lys Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Glu105Asp Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Glu180Val Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Glu188Asp Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Glu5Gln Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Glu88Lys Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Gly153Trp Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Gly185Glu Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Gly211Ala Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Gly6Glu Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.His33Tyr Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ile14Ser Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ile14Thr Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ile159Phe Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ile176Val Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ile82Thr Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ile83Leu Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ile83Val Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Leu164Val Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Lys157Thr Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Lys36Glu Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Met1Thr Expert panel severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Met8Ile Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Phe19Leu Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Pro117Leu Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Pro12Ser Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Pro198Leu Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ser184Cys Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ser197Asn Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ser197Gly Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ser84Cys Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ser94Tyr Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Thr46Ile Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Thr71Met Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Thr89Ala Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Tyr212Asn Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Val107Ile Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Val162Ile Expert panel severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • c.678+5G>A Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • c.679-3T>C Multiple submitters Omenn syndrome
  • c.780+5G>A Multiple submitters Omenn syndrome
  • c.*1487G>C Multiple submitters Omenn syndrome
  • p.Ala314Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala681Pro Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Arg249Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg249His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg360Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg360Trp Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Arg430Gly Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Arg445Cys Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Asn127Ser Multiple submitters Omenn syndrome ⚠
  • p.Asn448Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Asp609Tyr Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Glu353Lys Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Glu439Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Glu461Lys Multiple submitters Omenn syndrome ⚠
  • p.Glu462Val Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Glu528Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu564Asp Multiple submitters Omenn syndrome ⚠
  • p.Glu633Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Gly114Ser Multiple submitters Inborn genetic diseases ⚠
  • p.His403Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His629Tyr Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ile342Val Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ile532Ser Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ile543Val Multiple submitters Omenn syndrome ⚠
  • p.Ile570Ser Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Leu111Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Leu329Met Multiple submitters Omenn syndrome ⚠
  • p.Leu661Ter Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Leu670_Tyr671insTer Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Lys610Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Lys684fs Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Phe651Ser Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Pro408Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro519Leu Multiple submitters Omenn syndrome ⚠
  • p.Pro580Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro616Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro616Thr Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ser635Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Ser655Leu Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Thr246Ile Multiple submitters Omenn syndrome ⚠
  • p.Thr247Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr251Ser Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Thr301Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Thr557Ile Multiple submitters Omenn syndrome ⚠
  • p.Thr622Ile Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Thr623Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Trp267Arg Multiple submitters Omenn syndrome ⚠
  • p.Tyr578Cys Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Val612Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val682Asp Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • c.1161_1163del Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.161+3A>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.247-3T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.306+5C>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.362+6G>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.464+6G>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.678+5G>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.780+4C>T Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.780+6T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.780+6T>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.918-3T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • c.*1044A>G Single submitter Omenn syndrome
  • c.*1060G>A Single submitter Omenn syndrome
  • c.*1064A>G Single submitter Omenn syndrome
  • c.*1108G>C Single submitter Omenn syndrome
  • c.*1174G>A Single submitter Omenn syndrome
  • c.*1186T>G Single submitter Omenn syndrome
  • c.*11C>T Single submitter Omenn syndrome
  • c.*1215C>T Single submitter Omenn syndrome
  • c.*1216G>A Single submitter Omenn syndrome
  • c.*1236A>G Single submitter Omenn syndrome
  • c.*1276C>G Single submitter Omenn syndrome
  • c.*1280C>T Single submitter Omenn syndrome
  • c.*1394C>T Single submitter Omenn syndrome
  • c.*1407C>T Single submitter Omenn syndrome
  • c.*1408G>A Single submitter Omenn syndrome
  • c.*1452G>A Single submitter Omenn syndrome
  • c.*1525A>T Single submitter Omenn syndrome
  • c.*1535A>G Single submitter Omenn syndrome
  • c.*154G>T Single submitter Omenn syndrome
  • c.*179G>A Single submitter Omenn syndrome
  • c.*238A>C Single submitter Omenn syndrome
  • c.*241_*242del Single submitter
  • c.*306G>A Single submitter Omenn syndrome
  • c.*314G>A Single submitter Omenn syndrome
  • c.*391C>T Single submitter Omenn syndrome
  • c.*429C>T Single submitter Omenn syndrome
  • c.*482T>C Single submitter Omenn syndrome
  • c.*490T>C Single submitter Omenn syndrome
  • c.*506G>A Single submitter Omenn syndrome
  • c.*530A>C Single submitter Omenn syndrome
  • c.*540A>G Single submitter Omenn syndrome
  • c.*550A>G Single submitter Omenn syndrome
  • c.*550dup Single submitter
  • c.*551G>A Single submitter Omenn syndrome
  • c.*555A>G Single submitter Omenn syndrome
  • c.*616T>C Single submitter Omenn syndrome
  • c.*74G>A Single submitter Omenn syndrome
  • c.*759T>C Single submitter Omenn syndrome
  • c.*768G>T Single submitter Omenn syndrome
  • c.*772A>G Single submitter Omenn syndrome
  • c.*878C>G Single submitter Omenn syndrome
  • c.*915G>A Single submitter Omenn syndrome
  • c.*949G>C Single submitter Omenn syndrome
  • p.Ala140Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala26Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala314Val Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ala378Ser Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ala438Val Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ala482Asp Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ala482Ser Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ala681Val Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Arg172Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg179Gln Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Arg179Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg249Leu Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Arg257Trp Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Arg279Gly Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Arg383Gly Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Arg565Ile Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Arg579Ser Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Arg685fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Asn302Thr Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Asn340Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn642Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp233Glu Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Asp395Glu Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Asp526Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp526His Single submitter Inborn genetic diseases ⚠
  • p.Asp600His Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Asp604His Single submitter Inborn genetic diseases ⚠
  • p.Asp644His Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Asp644Val Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Cys256Tyr Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Cys272Ser Single submitter Inborn genetic diseases ⚠
  • p.Cys435Arg Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Gln252His Single submitter Omenn syndrome ⚠
  • p.Gln363Arg Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Gln431Pro Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Gln470Lys Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Gln480Leu Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Gln535Arg Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Gln539Arg Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Gln546Glu Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Gln646Ter Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gln668Ter Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Glu10Gly Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Glu221Gly Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Glu22Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu309Gln Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Glu324Gly Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Glu353Gly Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Glu388Asp Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Glu409Ala Single submitter Inborn genetic diseases ⚠
  • p.Glu414Gly Single submitter Omenn syndrome ⚠
  • p.Glu423Gly Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Glu439Gln Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Glu453Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu498Lys Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Glu502Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu502Lys Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Glu545Gln Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Glu564Gly Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Glu627Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu627Lys Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Glu633fs Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Glu652Gly Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Glu652Lys Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Glu658Lys Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Glu660Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu660Gly Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Glu678Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu678Lys Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Gly154= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Gly224Glu Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Gly273Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly308Glu Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Gly515Arg Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Gly547Val Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Gly550Arg Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Gly677Ser Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.His200Arg Single submitter Inborn genetic diseases ⚠
  • p.His243Tyr Single submitter Inborn genetic diseases ⚠
  • p.His244Tyr Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.His258Gln Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.His319Gln Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.His33Gln Single submitter Athabaskan severe combined immunodeficiency ⚠
  • p.His403Asn Single submitter Inborn genetic diseases ⚠
  • p.His531Asn Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.His666Asp Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ile14Met Single submitter Inborn genetic diseases ⚠
  • p.Ile16Met Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ile284Val Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ile354Leu Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ile399Val Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ile465Met Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ile630Met Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ile630Val Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ile680Leu Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Ile680Thr Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Leu110Val Single submitter ⚠
  • p.Leu332Arg Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Leu332Phe Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Leu358Ser Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Leu392Phe Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Leu392Val Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Leu559Ser Single submitter Inborn genetic diseases ⚠
  • p.Leu590Pro Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Leu59Val Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Leu636Met Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Leu689Phe Single submitter ⚠
  • p.Leu689Val Single submitter Inborn genetic diseases ⚠
  • p.Lys260Arg Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Lys350Glu Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Lys356Thr Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Lys404Asn Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Lys520Asn Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Lys583Gln Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Lys599Glu Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Lys663Thr Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Lys683Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys683Gln Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Lys684Ter Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Met121Ile Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Met121Leu Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Met238Ile Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Met238Val Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Met292Ile Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Met441Arg Single submitter Inborn genetic diseases ⚠
  • p.Met441Ile Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Met591Ile Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Met591Val Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Phe30Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe328Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe411Leu Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Phe493del Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
  • p.Phe522Ser Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Pro117Gln Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
  • p.Pro117Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro357Ala Single submitter Inborn genetic diseases ⚠