Sugi Variant

Sugi Variant/DOCK8

DOCK8 — 2888 ClinVar variants

All ClinVar germline DOCK8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1104 flagged for review →

72 Pathogenic · 8 Pathogenic/Likely pathogenic · 42 Likely pathogenic · 94 Conflicting · 264 Benign · 46 Benign/Likely benign · 1196 Likely benign · 1166 Uncertain significance

Full DOCK8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1104

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 27

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

Predictors lean, ClinVar uncertain 703

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 703

Predictors split 373

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 373

All DOCK8 variants

Pathogenic 72

  • c.2971-1G>A Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Arg1388Ter Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Arg1796Ter Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Arg317Ter Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Arg500Ter Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Asp310fs Multiple submitters Inborn genetic diseases
  • p.Leu1754fs Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Lys473Arg Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Tyr2007fs Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.1125+1G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1797+1G>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2606-1G>A Single submitter
  • c.3531-9_3531-8insCA Single submitter
  • c.4153+1G>A Single submitter
  • c.4241+1G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Ala1170fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Ala11fs Single submitter
  • p.Arg1183fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Arg1388fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Arg1828Ter Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Arg234fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Arg254fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Arg317fs Single submitter
  • p.Arg39Ter Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Arg499fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Asn536fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Asp1413fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Asp490_Tyr491insTer Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Cys170Ter Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Gln104Ter Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Gln1721Ter Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Gln1810Ter Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Gln2039Ter Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Gln215Ter Single submitter severe combined immunodeficiency
  • p.Gln818fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Glu1401Ter Single submitter
  • p.Glu1680fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Glu378fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Glu822Ter Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Ile1127fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Ile586fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Leu1856Ter Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Leu284fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Leu510fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Leu671fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Lys1184Ter Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Met1114fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Met1146fs Single submitter Inherited Immunodeficiency Diseases
  • p.Met935fs Single submitter
  • p.Phe1268fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Ser1357Ter Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Ser1573_Leu1574insTer Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Ser1711Ter Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Ser426fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Ser936fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Thr1653fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Trp1405Ter Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Tyr1658Ter Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Tyr1875Ter Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Tyr242Ter Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Tyr491fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Tyr628fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Val1813_Tyr1814insTer Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Val530fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1126-395_2971-2751del No assertion criteria combined immunodeficiency due to DOCK8 deficiency
  • c.2206-2A>G No assertion criteria combined immunodeficiency due to DOCK8 deficiency
  • c.5961+791_6068+2021del No assertion criteria combined immunodeficiency due to DOCK8 deficiency
  • p.Ala1169fs No assertion criteria combined immunodeficiency due to DOCK8 deficiency
  • p.Arg1763Ter No assertion criteria combined immunodeficiency due to DOCK8 deficiency
  • p.Leu1770fs No assertion criteria combined immunodeficiency due to DOCK8 deficiency
  • p.Ser1051fs No assertion criteria combined immunodeficiency due to DOCK8 deficiency
  • p.Thr1165fs No assertion criteria combined immunodeficiency due to DOCK8 deficiency

Pathogenic/Likely pathogenic 8

  • p.Arg2008Ter Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Arg550Ter Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Gln392Ter Multiple submitters severe combined immunodeficiency
  • p.Gln655Ter Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Gln996Ter Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Glu453Ter Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Leu1059fs Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Phe1113fs Multiple submitters combined immunodeficiency due to DOCK8 deficiency

Likely pathogenic 42

  • c.1680-2A>G Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.2779-2A>C Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.3530+1G>A Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.529-2A>G Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.1044+1G>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1126_1285+1del Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.156+2T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1797+61A>C Single submitter
  • c.1798-1G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1868+1G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1869-2A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2007+2T>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2083_2109+62del Single submitter
  • c.2606-5_2606del Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.3235-1G>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.3841-1G>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.4024-2A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.4154-1G>C Single submitter Susceptibility to severe COVID-19
  • c.4242-1G>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.4626+1G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.4626+76A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.5223+1del Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.53+1G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.5490+2T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.741+2T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.742-1G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Asn1395fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Asp1224fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Asp187fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Cys2024Tyr Single submitter Inherited Immunodeficiency Diseases
  • p.Gln354fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Glu1377fs Single submitter
  • p.Glu295fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Glu357fs Single submitter DOCK8-related disorder
  • p.Gly66fs Single submitter
  • p.Lys1855fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Phe649fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Thr1771fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Thr1820fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Tyr982fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Val1203fs Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.157-1G>T No assertion criteria DOCK8-related disorder

Conflicting classifications of pathogenicity 94

  • c.1044+13G>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1797+13A>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1798-4A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1868+6T>C Single submitter
  • c.2440+13_2440+22del Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2971-4G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2971-5C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2971-6C>T Single submitter Inborn genetic diseases
  • c.3234+2T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.3531-10G>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.3841-11C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.4024-4C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.4024-6G>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.405-8C>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.4241+12G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.4241+19T>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.4627-3C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.4785+8G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.5223+4A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.529-10T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.53+10C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.53+11C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.53+13C>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.54-1G>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.5818-13G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.5962-36_5962-21del Single submitter
  • c.5962-8C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.5962-9T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.742-15T>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.828-15C>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Ala1173= Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Ala1719Thr Single submitter combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Ala329Val Single submitter Inborn genetic diseases ⚠
  • p.Ala594= Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Ala660Asp Single submitter combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg1008Gln Single submitter combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg1154Cys Single submitter combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg1201= Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Arg127His Single submitter combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg151Gln Single submitter combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg1575Lys Single submitter combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg180Cys Single submitter combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg18Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg2040= Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Asn1964= Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Asn520Ser Single submitter hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Asn815Thr Single submitter combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Asp1713= Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Asp221Glu Single submitter combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Gln1617Arg Single submitter combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Glu1104Asp Single submitter hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Glu1499= Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Glu1874Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu2029Asp Single submitter ⚠
  • p.Gly1253Ser Single submitter combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Gly46Asp Single submitter severe combined immunodeficiency ⚠
  • p.His1074Asn Single submitter combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.His1509Gln Single submitter Inborn genetic diseases ⚠
  • p.His181Asp Single submitter combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.His1827= Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Ile1020Val Single submitter DOCK8-related disorder ⚠
  • p.Ile1090= Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Ile126Met Single submitter combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Ile673Phe Single submitter hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Ile927Val Single submitter ⚠
  • p.Leu1330Val Single submitter combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Leu528Met Single submitter combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Lys1204Asn Single submitter hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Lys276= Single submitter Inborn genetic diseases
  • p.Met2022Val Single submitter ⚠
  • p.Phe12Leu Single submitter combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Phe627= Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Phe755= Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Pro1968= Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Ser1245Leu Single submitter ⚠
  • p.Ser1449Leu Single submitter DOCK8-related disorder ⚠
  • p.Ser165Leu Single submitter combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Ser1933= Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Ser464Tyr Single submitter combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Ser606Asn Single submitter Inborn genetic diseases ⚠
  • p.Thr1088Met Single submitter combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Thr1121Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr1237Ala Single submitter hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Thr1943Ile Single submitter combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Thr366= Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Tyr1340Cys Single submitter intellectual disability ⚠
  • p.Tyr982= Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Val1181= Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Val1511= Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Val184Met Single submitter combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Val346Ile Single submitter combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Val552= Single submitter combined immunodeficiency due to DOCK8 deficiency
  • p.Val759Met Single submitter combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Val795Leu Single submitter Inborn genetic diseases ⚠

Benign 264

Benign/Likely benign 46

  • c.1422+17C>T Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.1516+16C>G Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.2778+20G>A Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.3234+15_3234+16delinsAC Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.3234+15del Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.3234+8T>C Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.332+9T>G Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.3701-17C>T Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.3840+3A>G Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.4887-16C>T Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.528+7C>A Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.53+14C>G Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.53+14del Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.5355+6C>T Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.5491-7T>A Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.5818-16T>C Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.5962-16_5962-9del Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.5962-17_5962-9del Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.5962-19_5962-9del Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.5962-34_5962-26del Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.828-7A>G Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Ala1670= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Ala1970Pro Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Ala22Val Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Ala318Thr Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Ala597Val Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg1008Trp Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Asn1070Asp Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Asn1386= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Asn413Ser Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Asp63Asn Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Cys1202= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Glu2067= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Glu227Lys Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Glu237Lys Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Glu770= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Ile1189Val Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Lys1271= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Pro339= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Pro529= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Ser1077Asn Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Ser1191= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Thr157Met Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Tyr1927= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Val1027Ile Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Val194Ile Multiple submitters combined immunodeficiency due to DOCK8 deficiency

Likely benign 1196

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

  • c.1044+12C>T Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.1045-17A>T Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.1422+101G>T Multiple submitters
  • c.1517-60C>T Multiple submitters
  • c.156+1383T>C Multiple submitters
  • c.1679+173G>C Multiple submitters
  • c.1679+212A>G Multiple submitters
  • c.1679+263G>A Multiple submitters
  • c.1680-102G>A Multiple submitters
  • c.1680-150A>G Multiple submitters
  • c.1680-183A>G Multiple submitters
  • c.1798-10T>C Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.2206-12C>T Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.2440+130G>A Multiple submitters
  • c.2874+8AG[2] Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.2970+16G>A Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.3120+82A>G Multiple submitters
  • c.3234+12C>T Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.3234+15_3234+16insCA Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.3234+22A>C Multiple submitters
  • c.3234+38C>T Multiple submitters
  • c.333-29C>T Multiple submitters
  • c.3390+21C>G Multiple submitters
  • c.3530+179C>A Multiple submitters
  • c.3531-196A>G Multiple submitters
  • c.3701-143A>G Multiple submitters
  • c.405-130A>G Multiple submitters
  • c.4241+16A>G Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.4242-128G>A Multiple submitters
  • c.4242-200A>G Multiple submitters
  • c.4474-85C>T Multiple submitters
  • c.5079+7dup Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.5223+15G>T Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.529-140C>G Multiple submitters
  • c.529-5C>G Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.53+144C>G Multiple submitters
  • c.53+20G>A Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.53+248G>A Multiple submitters
  • c.53+31G>T Multiple submitters
  • c.53+52T>G Multiple submitters
  • c.5356-165A>G Multiple submitters
  • c.54-55T>C Multiple submitters
  • c.5961+65C>T Multiple submitters
  • c.5962-16_5962-8del Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.5962-18_5962-9del Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.5962-20_5962-9del Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.5962-20T>A Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.5962-22_5962-9del Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.5962-34_5962-19del Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.5962-34_5962-21del Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.5962-34_5962-25del Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.5962-34A>T Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.5962-38_5962-17del Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.6068+22A>G Multiple submitters
  • c.6239+15G>C Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.741+16T>G Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.741+176T>C Multiple submitters
  • c.827+53C>A Multiple submitters
  • c.895-14C>T Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Ala1212= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Ala1423= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Ala1735= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Ala219= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Ala909= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Ala928= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Arg878= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Asp246= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Gln1249= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Glu1339= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Glu1568= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Glu1597= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Glu1733= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Glu613= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Glu918= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.His621= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Ile1211= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Ile131= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Ile809= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Leu1451= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Leu2046= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Leu290= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Phe647= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Pro159= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Pro1686= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Pro608= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Ser1245= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Ser496= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Ser701= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Ser823= Multiple submitters Inborn genetic diseases
  • p.Thr1724= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Thr232= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Thr366Met Multiple submitters Inborn genetic diseases
  • p.Thr972= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Val1276Leu Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Val1666= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Val1995= Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.1044+13G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1044+16C>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1044+16C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1044+18G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1044+18G>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1044+317G>A Single submitter
  • c.1045-10T>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1045-11T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1045-14C>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1045-14C>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1045-15T>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1045-17A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1045-20A>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1045-4G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1045-5G>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1125+13G>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1125+14A>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1125+15G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1125+15G>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1125+195_1125+197del Single submitter
  • c.1125+19T>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1125+20G>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1126-12A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1126-172G>T Single submitter
  • c.1126-17T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1126-17T>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1126-18C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1126-231G>A Single submitter
  • c.1285+11del Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1285+12A>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1285+13C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1285+17C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1285+18A>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1285+46C>T Single submitter
  • c.1286-12T>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1286-14T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1286-15T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1286-16A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1286-20G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1286-299C>G Single submitter
  • c.1422+13A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1422+18A>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1422+18A>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1422+20T>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1422+271G>T Single submitter
  • c.1423-10C>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1423-13T>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1423-15C>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1423-15C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1423-17G>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1423-19_1423-18del Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1423-222C>T Single submitter
  • c.1423-8C>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1423-8C>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1423-8C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1516+10A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1516+15T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1516+17T>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1516+20A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1517-11TC[2] Single submitter
  • c.1517-15A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1517-18C>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1517-18C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1517-4T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1517-6C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.156+15del Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.156+17G>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.156+29G>A Single submitter
  • c.157-13C>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.157-19C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.157-20C>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.157-310G>C Single submitter
  • c.157-4C>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.157-6C>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.157-6C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1679+10A>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1679+11_1679+12del Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1679+14G>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1679+15C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1679+16T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1679+17C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1679+18G>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1679+20G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1679+7A>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1680-16A>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1680-20C>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1680-7T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1797+14C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1797+15G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1797+18C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1797+8G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1798-105A>G Single submitter
  • c.1798-11C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1798-16C>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1798-18T>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1798-19T>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1798-20C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1798-45C>T Single submitter
  • c.1798-4A>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1798-7T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1798-8G>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1798-8G>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1868+13C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1868+17A>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1868+9A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1868+9A>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1869-16T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1869-20A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1869-20A>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1869-6A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2007+10T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2007+11T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2007+13C>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2007+15G>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2007+18T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2007+237G>A Single submitter
  • c.2007+9T>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2008-11A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2008-140G>A Single submitter
  • c.2008-14A>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2008-20A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2008-7G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2008-9C>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2109+14T>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2109+15G>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2109+19A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2109+51A>T Single submitter
  • c.2110-11C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2110-13dup Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2110-14T>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2110-14T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2110-16T>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2205+10G>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2205+11T>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2205+15G>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2205+16G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2205+20A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2206-10C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2206-15C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2206-16C>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2206-16C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2206-225A>C Single submitter
  • c.2206-4G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2206-5C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2206-9C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2440+12C>G Single submitter
  • c.2440+12C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2440+15G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2440+20G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2440+327G>A Single submitter
  • c.2440+8C>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2440+9C>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2440+9C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2441-10G>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2441-15C>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2441-9G>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2605+100_2605+160del Single submitter
  • c.2605+12C>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2605+18G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2606-15C>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2606-18C>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2606-20C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2606-6G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2778+11T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2778+13T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2778+19C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2778+8A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2778+8del Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2778+9G>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2779-13T>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2779-17T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2779-18A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2779-20C>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2779-246A>C Single submitter
  • c.2779-7A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2779-9G>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2874+10A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2874+12A>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2874+13G>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2874+16A>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2874+17del Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2874+17T>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2874+20G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2874+7A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2875-103C>T Single submitter
  • c.2875-12G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2875-15G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2875-17T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2875-187G>T Single submitter
  • c.2875-272T>C Single submitter
  • c.2875-7T>C Single submitter
  • c.2970+13C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2970+14G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2970+15C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2970+16G>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2970+17T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2970+19T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2970+19T>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2970+20G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2970+20G>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2970+91C>G Single submitter
  • c.2970+9C>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2971-12C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2971-18C>T Single submitter combined immunodeficiency due to DOCK8 deficiency

Uncertain significance 1166

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

  • c.156+7A>G Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.1868+4A>T Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.2205+6G>C Multiple submitters
  • c.4886+6C>T Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.5580+3A>G Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.5580+6C>T Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • c.*1031G>A Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Ala1045Val Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Ala1170Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1252Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1262Val Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Ala1290Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala13Pro Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Ala1423Gly Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Ala1423Pro Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Ala1579Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1736Gly Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Ala1736Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala2037Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala219Val Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Ala229Asp Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Ala229Pro Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Ala660Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala702Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala810Thr Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Ala870Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala914Thr Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg1004Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1004Trp Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg1011Cys Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg1015Cys Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Arg1015His Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg1065Trp Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg1073Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1238Cys Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Arg1238His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1241Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1294His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg134Trp Multiple submitters ⚠
  • p.Arg1363Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1363Trp Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg1370His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1406Gln Multiple submitters DOCK8-related disorder ⚠
  • p.Arg1486Cys Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg1763Gln Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg1766Gln Multiple submitters ⚠
  • p.Arg1766Trp Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg1891Gln Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg1891Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1904Gln Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Arg1904Trp Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Arg1906Gln Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg202His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg2033Cys Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Arg2063Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg2063Trp Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg2074Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Arg2080Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg209Gln Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg230Gln Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Arg230Trp Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg234Lys Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg254Cys Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg317Gln Multiple submitters ⚠
  • p.Arg393His Multiple submitters ⚠
  • p.Arg398Gln Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg436Trp Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg448Lys Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg478His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg537Gln Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Arg537Trp Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Arg550Gln Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Arg550Pro Multiple submitters intellectual disability, autosomal dominant 2 ⚠
  • p.Arg678His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg758Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg784Cys Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Arg885Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1070Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1085Ser Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Asn1108Ser Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Asn133Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1428Ile Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Asn1428Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1698Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn212Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Asn561Lys Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Asn596Asp Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Asn596Ser Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Asn622Ser Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Asn696Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn73Ser Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Asn815Ser Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Asn905Tyr Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Asp1018Asn Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Asp1148Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1197Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1347Glu Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Asp1387His Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1715Asn Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Asp1786Asn Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Asp1852Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Asp187Asn Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Asp249Asn Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Asp342His Multiple submitters Inborn genetic diseases ⚠
  • p.Asp481Asn Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Asp836His Multiple submitters Inborn genetic diseases ⚠
  • p.Asp907Asn Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Cys143Phe Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Cys305Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Gln1141His Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Gln123His Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Gln1635Arg Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Gln655Arg Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Gln897His Multiple submitters Inborn genetic diseases ⚠
  • p.Gln996His Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1041Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1152Lys Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Glu1418Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1502Gln Multiple submitters ⚠
  • p.Glu1597Val Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1714Lys Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Glu1911Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Glu2062Lys Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Glu211Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu228Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Glu60Asp Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Glu703Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu766Lys Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Glu8Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Glu917Lys Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Glu99Lys Multiple submitters ⚠
  • p.Gly1253Val Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Gly190Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly314Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly429Glu Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Gly910Glu Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.His1667Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.His1910Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His2009Tyr Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.His304Gln Multiple submitters Inborn genetic diseases ⚠
  • p.His319Tyr Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.His541Gln Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.His733Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His912Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1023Val Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Ile1072Met Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1263Val Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Ile1316Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1756Leu Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Ile1865Met Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1949Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile2072Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile268Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ile281Val Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Ile288Val Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Ile343Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile406Met Multiple submitters Inborn genetic diseases ⚠
  • p.Leu1111Arg Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Leu1162Phe Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Leu1171Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu1229Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu158Val Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Leu1744Phe Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Leu307Val Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Leu50Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu510Met Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Leu75Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu794Pro Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Leu874Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Lys1204Glu Multiple submitters ⚠
  • p.Lys1491Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys1632Arg Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Lys1803Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Lys1955Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Lys208Arg Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Lys298Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys462Arg Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Lys492Arg Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Lys531Arg Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Lys657Arg Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Lys798Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys920Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Met1001Thr Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Met1092Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met1297Val Multiple submitters ⚠
  • p.Met1304Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met1877Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met1Thr Multiple submitters combined immunodeficiency due to DOCK8 deficiency
  • p.Phe1113Leu Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Phe1138Leu Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Phe1799Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Phe222Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Phe28Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro105Arg Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Pro108Leu Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Pro1205Arg Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Pro159Leu Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Pro179Leu Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Pro1823Ser Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Pro1850Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro193Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Pro206Leu Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Pro255Thr Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Pro339Leu Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Pro364Ser Multiple submitters ⚠
  • p.Pro364Thr Multiple submitters ⚠
  • p.Pro5Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Pro608Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Pro687Leu Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Ser1029Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1191Arg Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Ser1279Phe Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Ser1426Gly Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Ser1706Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1706Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ser2087Asn Multiple submitters intellectual disability, autosomal dominant 2 ⚠
  • p.Ser287Ile Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Ser300Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Ser442Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ser578Ala Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Ser698Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ser903Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Thr1653Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Thr1741Ala Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Thr1882Lys Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Thr2036Met Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Thr337Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Thr813Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr911Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr96Met Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Tyr1057His Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Tyr1282Cys Multiple submitters ⚠
  • p.Tyr1282His Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Tyr1871Cys Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Tyr19Cys Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Tyr2007Cys Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Tyr56Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Val1186Ile Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Val132Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val1335Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Val1335Leu Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Val1687Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val1868Leu Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Val188Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val1961Leu Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Val457Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Val468Ile Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Val530Met Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Val662Met Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • p.Val804Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val824Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val852Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val855Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val865Ala Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Val865Met Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Val93Leu Multiple submitters combined immunodeficiency due to DOCK8 deficiency ⚠
  • p.Val94Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val991Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val998Leu Multiple submitters hyper-IgE recurrent infection syndrome 3, autosomal recessive ⚠
  • c.1044+5T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1126-3C>T Single submitter hyper-IgE recurrent infection syndrome 3, autosomal recessive
  • c.1285+4A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1286-5T>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1516+4T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1516+5G>C Single submitter
  • c.1680-2428G>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.1680-3C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2007+5G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2110-12T>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2110-5_2110-2del Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2441-3C>A Single submitter
  • c.2605+14G>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2778+5G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2779-10del Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2779-10T>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2779-3T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2874+3A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.2874+5T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.3120+5C>G Single submitter
  • c.3120+5C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.3390+4A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.3391-29T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.3531-3C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.3700+3A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.3700+5T>C Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.3701-3C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.3840+5G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.4024-8T>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.405-16A>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.4154-5C>G Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.4241+14C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.4338+5G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.4339-3C>G Single submitter
  • c.4474-26C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.4887-3C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.5079+6G>A Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.5223+5G>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.529-3C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.53+23C>T Single submitter combined immunodeficiency due to DOCK8 deficiency
  • c.53+24215A>T Single submitter combined immunodeficiency due to DOCK8 deficiency