Total 202 pathogenic variants reported for Combined immunodeficiency due to DOCK8 deficiency 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_203447.4(DOCK8):c.1418A>G (p.Lys473Arg) SNV
Germline
Chr9:336714 Pathogenic Combined immunodeficiency due to DOCK8 deficiency
Severe combined immunodeficiency disease
Criteria Provided
Multiple Submitters
No Conflicts
CA114673 rs_112321280

3 SubmittersRCV000000999RCV006263610

NM_203447.4(DOCK8):c.3058A>G (p.Ile1020Val) SNV
Germline
Chr9:396872 Conflicting classifications of pathogenicity not specified
Combined immunodeficiency due to DOCK8 deficiency
Condition: not provided
DOCK8-related disorder
Criteria Provided
Conflicting Classifications
CA249195 rs_151094543

6 SubmittersRCV000202995RCV000645157RCV001697210RCV003401098

NM_203447.4(DOCK8):c.2017A>T (p.Ile673Phe) SNV
Germline
Chr9:372194 Conflicting classifications of pathogenicity not specified
Condition: not provided
Combined immunodeficiency due to DOCK8 deficiency
DOCK8-related disorder
Hyper-IgE recurrent infection syndrome 3, autosomal recessive
Criteria Provided
Conflicting Classifications
CA4958048 rs_372858877

6 SubmittersRCV000213603RCV000766471RCV000808945RCV003947716RCV005416332

NM_203447.4(DOCK8):c.3543A>G (p.Val1181=) SNV
Germline
Chr9:414794 Conflicting classifications of pathogenicity not specified
Combined immunodeficiency due to DOCK8 deficiency
Criteria Provided
Conflicting Classifications
CA4958745 rs_753242273

3 SubmittersRCV000216010RCV000893485

NM_203447.4(DOCK8):c.54-1G>T SNV
Germline
Chr9:271626 Conflicting classifications of pathogenicity Condition: not provided
Combined immunodeficiency due to DOCK8 deficiency
not specified
Intellectual disability
DOCK8-related disorder
Acute myeloid leukemia
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA4957100 rs_192864327

17 SubmittersRCV000256030RCV000645149RCV000825915RCV001251745RCV003930033RCV005895446RCV005895445

NM_203447.4(DOCK8):c.949C>T (p.Arg317Ter) SNV
Germline
Chr9:328076 Pathogenic Condition: not provided
Combined immunodeficiency due to DOCK8 deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA4957539 rs_113432057

3 SubmittersRCV000398158RCV002282098

NM_203447.4(DOCK8):c.663C>A (p.Asp221Glu) SNV
Germline
Chr9:312088 Conflicting classifications of pathogenicity Condition: not provided
Combined immunodeficiency due to DOCK8 deficiency
Intellectual disability
DOCK8-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA4957358 rs_139391329

7 SubmittersRCV000762543RCV001085149RCV001251743RCV003902435RCV006443301

NM_203447.4(DOCK8):c.1044+13G>T SNV
Germline
Chr9:328184 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Conflicting Classifications
CA4957572 rs_754374567

2 SubmittersRCV000301184

NM_203447.4(DOCK8):c.1797+13A>C SNV
Germline
Chr9:368148 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Conflicting Classifications
CA4957880 rs_776147775

2 SubmittersRCV000323624

NM_203447.4(DOCK8):c.3519C>T (p.Ala1173=) SNV
Germline
Chr9:407058 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4958708 rs_144299704

3 SubmittersRCV000262712RCV003430972

NM_203447.4(DOCK8):c.5828C>T (p.Thr1943Ile) SNV
Germline
Chr9:449794 Conflicting classifications of pathogenicity Condition: not provided
Combined immunodeficiency due to DOCK8 deficiency
Hyper-IgE recurrent infection syndrome 3, autosomal recessive
Intellectual disability
Criteria Provided
Conflicting Classifications
CA4959568 rs_148368084

7 SubmittersRCV001577068RCV000820827RCV005416349RCV005625573

NM_203447.4(DOCK8):c.53+11C>T SNV
Germline
Chr9:215040 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA4956924 rs_764626266

4 SubmittersRCV000373258RCV004696129RCV006458322

NM_203447.4(DOCK8):c.380G>A (p.Arg127His) SNV
Germline
Chr9:289557 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
Intellectual disability
Condition: not provided
not specified
DOCK8-related disorder
Criteria Provided
Conflicting Classifications
CA4957202 rs_150742426

12 SubmittersRCV000645163RCV001251744RCV001531727RCV001821120RCV003922651

NM_203447.4(DOCK8):c.1391C>A (p.Ser464Tyr) SNV
Germline
Chr9:336687 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
DOCK8-related disorder
Criteria Provided
Conflicting Classifications
CA4957710 rs_531279290

3 SubmittersRCV000269945RCV004739710

NM_203447.4(DOCK8):c.36C>A (p.Phe12Leu) SNV
Germline
Chr9:215012 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Conflicting Classifications
CA4956910 rs_566738926

2 SubmittersRCV000332616

NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu) SNV
Germline
Chr9:304670 Conflicting classifications of pathogenicity Condition: not provided
Combined immunodeficiency due to DOCK8 deficiency
Criteria Provided
Conflicting Classifications
CA4957259 rs_146490788

8 SubmittersRCV000762542RCV000768199

NM_203447.4(DOCK8):c.2275G>A (p.Val759Met) SNV
Germline
Chr9:377046 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
Intellectual disability
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA4958155 rs_148693111

6 SubmittersRCV000697622RCV001251748RCV002508933RCV005434893

NM_203447.4(DOCK8):c.452G>A (p.Arg151Gln) SNV
Germline
Chr9:304628 Conflicting classifications of pathogenicity not specified
Combined immunodeficiency due to DOCK8 deficiency
DOCK8-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4957247 rs_149918318

7 SubmittersRCV000413355RCV000645182RCV003897816RCV004584698

NM_203447.4(DOCK8):c.550G>A (p.Val184Met) SNV
Germline
Chr9:311975 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4957315 rs_143461644

4 SubmittersRCV000693678RCV002244840

NM_203447.4(DOCK8):c.4497G>A (p.Glu1499=) SNV
Germline
Chr9:429725 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Conflicting Classifications
CA10633788 rs_886063957

2 SubmittersRCV000364099

NM_203447.4(DOCK8):c.5139C>T (p.Asp1713=) SNV
Germline
Chr9:439304 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA4959317 rs_568641163

3 SubmittersRCV000264591RCV004975491

NM_203447.4(DOCK8):c.2937C>G (p.Val979=) SNV
Germline
Chr9:390533 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Conflicting Classifications
CA4958415 rs_751748445

2 SubmittersRCV000264296

NM_203447.4(DOCK8):c.3195G>A (p.Arg1065=) SNV
Germline
Chr9:399220 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Conflicting Classifications
CA10634122 rs_781062154

2 SubmittersRCV000346650

NM_203447.4(DOCK8):c.3220C>A (p.His1074Asn) SNV
Germline
Chr9:399245 Conflicting classifications of pathogenicity Condition: not provided
Combined immunodeficiency due to DOCK8 deficiency
Intellectual disability
Criteria Provided
Conflicting Classifications
CA4958564 rs_150298985

4 SubmittersRCV000893429RCV001085892RCV001251749

NM_203447.4(DOCK8):c.3270T>C (p.Ile1090=) SNV
Germline
Chr9:404953 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
DOCK8-related disorder
Criteria Provided
Conflicting Classifications
CA4958625 rs_377297446

3 SubmittersRCV000266200RCV003950303

NM_203447.4(DOCK8):c.3312G>C (p.Glu1104Asp) SNV
Germline
Chr9:404995 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
Condition: not provided
not specified
Hyper-IgE recurrent infection syndrome 3, autosomal recessive
Criteria Provided
Conflicting Classifications
CA4958637 rs_138810908

7 SubmittersRCV000526922RCV001723965RCV003987525RCV005416346

NM_203447.4(DOCK8):c.4024-4C>T SNV
Germline
Chr9:420945 Conflicting classifications of pathogenicity not specified
Combined immunodeficiency due to DOCK8 deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4958917 rs_111306749

7 SubmittersRCV000601801RCV000905669RCV001573987

NM_203447.4(DOCK8):c.5223+4A>G SNV
Germline
Chr9:439392 Conflicting classifications of pathogenicity Condition: not provided
Combined immunodeficiency due to DOCK8 deficiency
Criteria Provided
Conflicting Classifications
CA4959348 rs_117109271

3 SubmittersRCV000479759RCV001088227

NM_203447.4(DOCK8):c.1648C>T (p.Arg550Ter) SNV
Germline
Chr9:340290 Pathogenic/Likely pathogenic Condition: not provided
Combined immunodeficiency due to DOCK8 deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA16042694 rs_1057518028

3 SubmittersRCV000412782RCV006462585

NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys) SNV
Germline
Chr9:420579 Conflicting classifications of pathogenicity not specified
Combined immunodeficiency due to DOCK8 deficiency
Condition: not provided
DOCK8-related disorder
Intellectual disability
Ovarian serous cystadenocarcinoma
Thymoma
Thyroid cancer, nonmedullary, 1
Melanoma
Familial cancer of breast
Lung cancer
Criteria Provided
Conflicting Classifications
CA4958890 rs_116920018

12 SubmittersRCV000414337RCV000645180RCV001507743RCV003922668RCV005625579RCV005900654RCV005900655RCV005900656RCV005900657RCV005900653RCV005900658

NM_203447.4(DOCK8):c.1582C>A (p.Leu528Met) SNV
Germline
Chr9:340224 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
Condition: not provided
not specified
DOCK8-related disorder
Criteria Provided
Conflicting Classifications
CA4957793 rs_146250176

5 SubmittersRCV000530757RCV001705568RCV001821159RCV003970112

NM_203447.4(DOCK8):c.2971-6C>T SNV
Germline
Chr9:396779 Conflicting classifications of pathogenicity not specified
Condition: not provided
Inborn genetic diseases
Combined immunodeficiency due to DOCK8 deficiency
Criteria Provided
Conflicting Classifications
CA4958452 rs_773500215

4 SubmittersRCV000422081RCV004546493RCV004619287RCV006606391

NM_203447.4(DOCK8):c.3988C>G (p.Leu1330Val) SNV
Germline
Chr9:420548 Conflicting classifications of pathogenicity Condition: not provided
Combined immunodeficiency due to DOCK8 deficiency
Intellectual disability
DOCK8-related disorder
Criteria Provided
Conflicting Classifications
CA4958884 rs_148081681

6 SubmittersRCV000439452RCV001087724RCV001251750RCV003912613

NM_203447.4(DOCK8):c.4346C>T (p.Ser1449Leu) SNV
Germline
Chr9:428369 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
Condition: not provided
DOCK8-related disorder
Criteria Provided
Conflicting Classifications
CA4959059 rs_370123223

5 SubmittersRCV000691493RCV001704338RCV003392247RCV005090802

NM_203447.4(DOCK8):c.2971-1G>A SNV
Germline
Chr9:396784 Pathogenic Condition: not provided
Thyroid cancer, nonmedullary, 1
Combined immunodeficiency due to DOCK8 deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA4958455 rs_777066716

3 SubmittersRCV000431039RCV005900876RCV006555922

NM_203447.4(DOCK8):c.3603C>G (p.Arg1201=) SNV
Germline
Chr9:414854 Conflicting classifications of pathogenicity Condition: not provided
Combined immunodeficiency due to DOCK8 deficiency
Criteria Provided
Conflicting Classifications
CA4958758 rs_149908718

2 SubmittersRCV000417513RCV006609564

NM_203447.4(DOCK8):c.1881T>C (p.Phe627=) SNV
Germline
Chr9:371440 Conflicting classifications of pathogenicity Condition: not provided
Combined immunodeficiency due to DOCK8 deficiency
Criteria Provided
Conflicting Classifications
CA4957992 rs_140134223

3 SubmittersRCV000421559RCV000645162

NM_203447.4(DOCK8):c.3460C>T (p.Arg1154Cys) SNV
Germline
Chr9:406999 Conflicting classifications of pathogenicity Condition: not provided
Combined immunodeficiency due to DOCK8 deficiency
not specified
DOCK8-related disorder
Criteria Provided
Conflicting Classifications
CA4958695 rs_34390308

8 SubmittersRCV000479850RCV001086901RCV001821389RCV003925401

NM_203447.4(DOCK8):c.1979C>A (p.Ala660Asp) SNV
Germline
Chr9:371538 Conflicting classifications of pathogenicity Condition: not provided
Combined immunodeficiency due to DOCK8 deficiency
Criteria Provided
Conflicting Classifications
CA4958016 rs_550289472

3 SubmittersRCV000489600RCV001167344

NM_203447.4(DOCK8):c.52A>G (p.Arg18Gly) SNV
Germline
Chr9:215028 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Combined immunodeficiency due to DOCK8 deficiency
Criteria Provided
Conflicting Classifications
CA4956918 rs_200689054

3 SubmittersRCV000494317RCV000624829RCV006606428

NM_203447.4(DOCK8):c.2971-5C>T SNV
Germline
Chr9:396780 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Conflicting Classifications
CA4958453 rs_373718659

3 SubmittersRCV000509471

NM_203447.4(DOCK8):c.3023G>A (p.Arg1008Gln) SNV
Germline
Chr9:396837 Conflicting classifications of pathogenicity Condition: not provided
Combined immunodeficiency due to DOCK8 deficiency
not specified
Hyper-IgE recurrent infection syndrome 3, autosomal recessive
Criteria Provided
Conflicting Classifications
CA4958471 rs_145844320

8 SubmittersRCV000521228RCV000534712RCV003155221RCV005416360

NM_203447.4(DOCK8):c.5155G>A (p.Ala1719Thr) SNV
Germline
Chr9:439320 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4959323 rs_144279637

3 SubmittersRCV000531138RCV001797102

NM_203447.4(DOCK8):c.405-8C>G SNV
Germline
Chr9:304573 Conflicting classifications of pathogenicity not specified
Combined immunodeficiency due to DOCK8 deficiency
Criteria Provided
Conflicting Classifications
CA4957236 rs_748853895

2 SubmittersRCV000578821RCV006608747

NM_203447.4(DOCK8):c.378C>G (p.Ile126Met) SNV
Germline
Chr9:289555 Conflicting classifications of pathogenicity not specified
Combined immunodeficiency due to DOCK8 deficiency
Criteria Provided
Conflicting Classifications
CA4957199 rs_141175202

3 SubmittersRCV000593065RCV000983932

NM_203447.4(DOCK8):c.5481T>C (p.His1827=) SNV
Germline
Chr9:442000 Conflicting classifications of pathogenicity not specified
Combined immunodeficiency due to DOCK8 deficiency
DOCK8-related disorder
Criteria Provided
Conflicting Classifications
CA463700050 rs_1554708887

4 SubmittersRCV000610688RCV000817998RCV003945552

NM_203447.4(DOCK8):c.3841-11C>T SNV
Germline
Chr9:420390 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4958857 rs_372829200

3 SubmittersRCV001334765RCV001704754

NM_203447.4(DOCK8):c.2971-4G>A SNV
Germline
Chr9:396781 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
Condition: not provided
DOCK8-related disorder
Criteria Provided
Conflicting Classifications
CA4958454 rs_186097329

4 SubmittersRCV000645160RCV001704701RCV003927955

NM_203447.4(DOCK8):c.3263C>T (p.Thr1088Met) SNV
Germline
Chr9:404946 Conflicting classifications of pathogenicity not specified
Condition: not provided
Inborn genetic diseases
Combined immunodeficiency due to DOCK8 deficiency
Criteria Provided
Conflicting Classifications
CA4958621 rs_149065013

4 SubmittersRCV000601144RCV000733045RCV002531618RCV006607861

NM_203447.4(DOCK8):c.4627-3C>T SNV
Germline
Chr9:432163 Conflicting classifications of pathogenicity not specified
Combined immunodeficiency due to DOCK8 deficiency
Criteria Provided
Conflicting Classifications
CA4959164 rs_368566107

2 SubmittersRCV000602249RCV001860356

NM_203447.4(DOCK8):c.986C>T (p.Ala329Val) SNV
Germline
Chr9:328113 Conflicting classifications of pathogenicity Inborn genetic diseases
Combined immunodeficiency due to DOCK8 deficiency
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA4957552 rs_75352090

5 SubmittersRCV000623051RCV000645170RCV001571318RCV004782477

NM_203447.4(DOCK8):c.4162C>T (p.Arg1388Ter) SNV
Germline
Chr9:422056 Pathogenic Condition: not provided
Combined immunodeficiency due to DOCK8 deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA372764572 rs_1476130680

2 SubmittersRCV000627240RCV006556466

NM_203447.4(DOCK8):c.5132C>A (p.Ser1711Ter) SNV
Germline
Chr9:439297 Pathogenic Condition: not provided
Combined immunodeficiency due to DOCK8 deficiency
DOCK8-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA372767725 rs_1554707993

3 SubmittersRCV000627241RCV001824146RCV004740376

NM_203447.4(DOCK8):c.2779-2A>C SNV
Germline
Chr9:386329 Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA4958349 rs_776399238

2 SubmittersRCV005357857

NM_203447.4(DOCK8):c.2383G>C (p.Val795Leu) SNV
Germline
Chr9:377154 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
Inborn genetic diseases
DOCK8-related disorder
Criteria Provided
Conflicting Classifications
CA4958178 rs_369449324

4 SubmittersRCV000700047RCV004026498RCV004740412

NM_203447.4(DOCK8):c.3530+1G>A SNV
Germline
Chr9:407070 Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA372758604 rs_1564025732

2 SubmittersRCV000694410

NM_203447.4(DOCK8):c.3757G>A (p.Gly1253Ser) SNV
Germline
Chr9:418124 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA372762193 rs_1395205685

3 SubmittersRCV000706145RCV003432747

NM_203447.4(DOCK8):c.742-15T>G SNV
Germline
Chr9:317028 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Conflicting Classifications
CA4957438 rs_111627162

2 SubmittersRCV005046935

NM_203447.4(DOCK8):c.1680-2A>G SNV
Germline
Chr9:368016 Likely pathogenic Condition: not provided
Combined immunodeficiency due to DOCK8 deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA4957857 rs_749633690

2 SubmittersRCV002223911RCV006463929

NM_203447.4(DOCK8):c.5386C>T (p.Arg1796Ter) SNV
Germline
Chr9:441905 Pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA4959418 rs_775544616

2 SubmittersRCV000699467

NM_203447.4(DOCK8):c.3234+2T>C SNV
Germline
Chr9:399261 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Conflicting Classifications
CA4958566 rs_756871628

4 SubmittersRCV000695389

NM_017950.4(CCDC40):c.2440C>T (p.Arg814Ter) SNV
Germline
Chr17:80086207 Pathogenic Primary ciliary dyskinesia
Combined immunodeficiency due to DOCK8 deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA8814192 rs_747233125

3 SubmittersRCV000689717RCV003448338

NM_203447.4(DOCK8):c.1817G>A (p.Ser606Asn) SNV
Germline
Chr9:370249 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA4957954 rs_778451048

3 SubmittersRCV000820249RCV002537463RCV005092446

NM_203447.4(DOCK8):c.541C>G (p.His181Asp) SNV
Germline
Chr9:311966 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4957311 rs_200684000

3 SubmittersRCV000880794RCV003424437

NM_203447.4(DOCK8):c.4724G>A (p.Arg1575Lys) SNV
Germline
Chr9:432263 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA4959180 rs_141252560

4 SubmittersRCV000879098RCV002251528RCV004027922

NM_203447.4(DOCK8):c.5962-9T>C SNV
Germline
Chr9:452002 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
not specified
Criteria Provided
Conflicting Classifications
CA4959634 rs_1324502895

3 SubmittersRCV000893257RCV001818681

NM_203447.4(DOCK8):c.5892C>T (p.Asn1964=) SNV
Germline
Chr9:449858 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
not specified
Criteria Provided
Conflicting Classifications
CA4959573 rs_138617736

3 SubmittersRCV000898497RCV001818733

NM_203447.4(DOCK8):c.1098G>A (p.Thr366=) SNV
Germline
Chr9:332451 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
DOCK8-related disorder
Criteria Provided
Conflicting Classifications
CA4957601 rs_139297216

3 SubmittersRCV000925408RCV003983279

NM_203447.4(DOCK8):c.5205C>T (p.Ala1735=) SNV
Germline
Chr9:439370 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4959339 rs_150682688

3 SubmittersRCV000916304RCV004705915

NM_203447.4(DOCK8):c.53+10C>T SNV
Germline
Chr9:215039 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Conflicting Classifications
CA4956923 rs_763565243

2 SubmittersRCV001168672

NM_203447.4(DOCK8):c.538C>T (p.Arg180Cys) SNV
Germline
Chr9:311963 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4957308 rs_141961156

2 SubmittersRCV001063084RCV003433007

NM_203447.4(DOCK8):c.1036G>A (p.Val346Ile) SNV
Germline
Chr9:328163 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Conflicting Classifications
CA4957566 rs_148994877

2 SubmittersRCV001167141

NM_203447.4(DOCK8):c.1656A>G (p.Val552=) SNV
Germline
Chr9:340298 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
DOCK8-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4957812 rs_150595667

4 SubmittersRCV001165680RCV003396780RCV003886483

NM_203447.4(DOCK8):c.1782T>C (p.Ala594=) SNV
Germline
Chr9:368120 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Conflicting Classifications
CA4957876 rs_748721463

2 SubmittersRCV001165760

NM_203447.4(DOCK8):c.2444A>C (p.Asn815Thr) SNV
Germline
Chr9:379774 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Conflicting Classifications
CA4958202 rs_141451302

2 SubmittersRCV001165975

NM_203447.4(DOCK8):c.2946T>C (p.Tyr982=) SNV
Germline
Chr9:390542 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Conflicting Classifications
CA4958416 rs_762327114

2 SubmittersRCV001166252

NM_203447.4(DOCK8):c.5904T>A (p.Pro1968=) SNV
Germline
Chr9:449870 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Conflicting Classifications
CA4959578 rs_182402358

2 SubmittersRCV001167670

NM_203447.4(DOCK8):c.6120G>A (p.Arg2040=) SNV
Germline
Chr9:463568 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Conflicting Classifications
CA4959688 rs_150524921

2 SubmittersRCV001169745

NM_203447.4(DOCK8):c.529-10T>C SNV
Germline
Chr9:311944 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Conflicting Classifications
CA4957300 rs_757276569

2 SubmittersRCV001166959

NM_203447.4(DOCK8):c.828-15C>G SNV
Germline
Chr9:325656 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Conflicting Classifications
CA4957479 rs_773615177

2 SubmittersRCV001165546

NM_203447.4(DOCK8):c.3531-10G>C SNV
Germline
Chr9:414772 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Conflicting Classifications
CA4958740 rs_760907119

2 SubmittersRCV001166895

NM_203447.4(DOCK8):c.4024-6G>C SNV
Germline
Chr9:420943 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Conflicting Classifications
CA4958916 rs_555906969

2 SubmittersRCV001168611

NM_203447.4(DOCK8):c.4241+12G>A SNV
Germline
Chr9:422147 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Conflicting Classifications
CA4958984 rs_371073556

2 SubmittersRCV001169370

NM_203447.4(DOCK8):c.4785+8G>A SNV
Germline
Chr9:432332 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Conflicting Classifications
CA4959193 rs_759399965

2 SubmittersRCV001167027

NM_203447.4(DOCK8):c.5818-13G>A SNV
Germline
Chr9:449771 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Conflicting Classifications
CA4959562 rs_368826292

2 SubmittersRCV001167087

NM_203447.4(DOCK8):c.5962-8C>T SNV
Germline
Chr9:452003 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
not specified
Condition: not provided
Acute myeloid leukemia
Criteria Provided
Conflicting Classifications
CA187829505 rs_749575443

6 SubmittersRCV001167671RCV001726442RCV001702086RCV005908869

NM_203447.4(DOCK8):c.4241+19T>G SNV
Germline
Chr9:422154 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Conflicting Classifications
CA1120367433 rs_2056303175

2 SubmittersRCV001199259

NM_203447.4(DOCK8):c.1963C>T (p.Gln655Ter) SNV
Germline
Chr9:371522 Pathogenic/Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA372761548 rs_1287635563

2 SubmittersRCV005049790RCV005094082

NM_203447.4(DOCK8):c.4527C>G (p.His1509Gln) SNV
Germline
Chr9:429755 Conflicting classifications of pathogenicity not specified
Combined immunodeficiency due to DOCK8 deficiency
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA4959117 rs_533492555

3 SubmittersRCV001819993RCV006466324RCV005809520

NM_203447.4(DOCK8):c.4850A>G (p.Gln1617Arg) SNV
Germline
Chr9:433939 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
not specified
Criteria Provided
Conflicting Classifications
CA4959228 rs_140846364

2 SubmittersRCV001347815RCV006457043

NM_203447.4(DOCK8):c.3841-1G>T SNV
Germline
Chr9:420400 Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter
CA372763452 rs_1486452597

1 SubmittersRCV006466807

NM_203447.4(DOCK8):c.1498C>T (p.Arg500Ter) SNV
Germline
Chr9:339081 Pathogenic Combined immunodeficiency due to DOCK8 deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA4957751 rs_770748316

2 SubmittersRCV001381865RCV005094515

NM_203447.4(DOCK8):c.5161C>T (p.Gln1721Ter) SNV
Germline
Chr9:439326 Pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter
CA4959325 rs_754989398

1 SubmittersRCV006466856

NM_203447.4(DOCK8):c.1798-4A>G SNV
Germline
Chr9:370226 Conflicting classifications of pathogenicity Condition: not provided
Combined immunodeficiency due to DOCK8 deficiency
Criteria Provided
Conflicting Classifications
CA585875467 rs_774596616

4 SubmittersRCV001531728RCV006467648

NM_203447.4(DOCK8):c.4241+1G>A SNV
Germline
Chr9:422136 Pathogenic Combined immunodeficiency due to DOCK8 deficiency
Condition: not provided
Criteria Provided
Single Submitter
CA372764977 rs_2131649330

1 SubmittersRCV001733785RCV002508818

NM_203447.4(DOCK8):c.5799C>T (p.Ser1933=) SNV
Germline
Chr9:446588 Conflicting classifications of pathogenicity not specified
Combined immunodeficiency due to DOCK8 deficiency
Criteria Provided
Conflicting Classifications
CA4959538 rs_149602835

2 SubmittersRCV001820543RCV006611340

NM_203447.4(DOCK8):c.4533C>G (p.Val1511=) SNV
Germline
Chr9:429761 Conflicting classifications of pathogenicity not specified
Combined immunodeficiency due to DOCK8 deficiency
Criteria Provided
Conflicting Classifications
CA463696806 rs_2056640828

2 SubmittersRCV001822536RCV006468052

NM_203447.4(DOCK8):c.53+1G>A SNV
Germline
Chr9:215030 Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter
CA372755875 rs_2046707580

1 SubmittersRCV006558274

NM_203447.4(DOCK8):c.6115C>T (p.Gln2039Ter) SNV
Germline
Chr9:463563 Pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter
CA372751627 rs_2131982095

1 SubmittersRCV006557891

NM_203447.4(DOCK8):c.2464G>T (p.Glu822Ter) SNV
Germline
Chr9:379794 Pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter
CA4958209 rs_372503899

2 SubmittersRCV005861270

NM_203447.4(DOCK8):c.5620G>A (p.Glu1874Lys) SNV
Germline
Chr9:446409 Conflicting classifications of pathogenicity Inborn genetic diseases
Combined immunodeficiency due to DOCK8 deficiency
Criteria Provided
Conflicting Classifications
CA4959498 rs_779199376

3 SubmittersRCV003167376RCV004720343

NM_203447.4(DOCK8):c.2007+2T>G SNV
Germline
Chr9:371568 Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter
CA372761649 rs_2131215770

1 SubmittersRCV002249030

NM_203447.4(DOCK8):c.1174C>T (p.Gln392Ter) SNV
Germline
Chr9:334273 Pathogenic/Likely pathogenic Severe combined immunodeficiency disease
Combined immunodeficiency due to DOCK8 deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA187758823 rs_372598000

2 SubmittersRCV002266193RCV006558717

NM_203447.4(DOCK8):c.2206-2A>G SNV
Germline
Chr9:376975 Pathogenic Combined immunodeficiency due to DOCK8 deficiency No Assertion Criteria Provided
CA372763001 rs_2538340189

1 SubmittersRCV002292406

NM_203447.4(DOCK8):c.5287C>T (p.Arg1763Ter) SNV
Germline
Chr9:441349 Pathogenic Combined immunodeficiency due to DOCK8 deficiency No Assertion Criteria Provided
CA372768069 rs_1564072946

1 SubmittersRCV002292407

NM_203447.4(DOCK8):c.4070C>A (p.Ser1357Ter) SNV
Germline
Chr9:420995 Pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter
CA372764367 rs_2538795130

1 SubmittersRCV006471824

NM_203447.4(DOCK8):c.828G>A (p.Lys276=) SNV
Germline
Chr9:325671 Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA463681822 rs_1156965453

2 SubmittersRCV006471880RCV006342752

NM_203447.4(DOCK8):c.1868+1G>A SNV
Germline
Chr9:370301 Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter
CA372761101 rs_2053227203

1 SubmittersRCV006472116

NM_203447.4(DOCK8):c.2265C>T (p.Phe755=) SNV
Germline
Chr9:377036 Conflicting classifications of pathogenicity Condition: not provided
Combined immunodeficiency due to DOCK8 deficiency
Criteria Provided
Conflicting Classifications
CA187814529 rs_565241553

2 SubmittersRCV005242263RCV006471561

NM_203447.4(DOCK8):c.1125+1G>A SNV
Germline
Chr9:332479 Pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter
CA4957607 rs_777092009

1 SubmittersRCV006471524

NM_203447.4(DOCK8):c.310C>T (p.Gln104Ter) SNV
Germline
Chr9:286614 Pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter
CA372756466 rs_2537560344

1 SubmittersRCV006559869

NM_203447.4(DOCK8):c.4974C>G (p.Tyr1658Ter) SNV
Germline
Chr9:434870 Pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter
CA372767375 rs_1564065545

1 SubmittersRCV006559981

NM_203447.4(DOCK8):c.3550A>T (p.Lys1184Ter) SNV
Germline
Chr9:414801 Pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter
CA372760253 rs_770475792

1 SubmittersRCV006560072

NM_203447.4(DOCK8):c.4626+76A>G SNV
Germline
Chr9:429930 Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter
CA2580080172 rs_2537335758

1 SubmittersRCV006612076

NM_203447.4(DOCK8):c.4024-2A>G SNV
Germline
Chr9:420947 Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter
CA372764260 rs_2538794640

1 SubmittersRCV006560645

NM_203447.4(DOCK8):c.1357G>T (p.Glu453Ter) SNV
Germline
Chr9:336653 Pathogenic/Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA4957702 rs_113203757

2 SubmittersRCV003335887

NM_203447.4(DOCK8):c.4626+1G>A SNV
Germline
Chr9:429855 Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter
CA372766560 rs_1237936911

1 SubmittersRCV003448877

NM_203447.4(DOCK8):c.741+2T>C SNV
Germline
Chr9:312168 Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter
CA372761011 rs_1586672470

1 SubmittersRCV006562831

NM_203447.4(DOCK8):c.5490+2T>C SNV
Germline
Chr9:442011 Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter
CA372768543 rs_2537437189

1 SubmittersRCV006562760

NM_203447.4(DOCK8):c.510C>A (p.Cys170Ter) SNV
Germline
Chr9:304686 Pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter
CA372758954 rs_2537713873

1 SubmittersRCV006563340

NM_203447.4(DOCK8):c.4215G>A (p.Trp1405Ter) SNV
Germline
Chr9:422109 Pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter
CA372764819 rs_2538803372

1 SubmittersRCV006563502

NM_203447.4(DOCK8):c.6022C>T (p.Arg2008Ter) SNV
Germline
Chr9:452071 Pathogenic/Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA372769753 rs_1418593569

2 SubmittersRCV005051364

NM_203447.4(DOCK8):c.1797+1G>T SNV
Germline
Chr9:368136 Pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter
CA372759713 rs_2053100837

1 SubmittersRCV003990857

NM_203447.4(DOCK8):c.529-2A>G SNV
Germline
Chr9:311952 Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005048323

NM_203447.4(DOCK8):c.5132C>G (p.Ser1711Ter) SNV
Germline
Chr9:439297 Pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006566314

NM_203447.4(DOCK8):c.2986C>T (p.Gln996Ter) SNV
Germline
Chr9:396800 Pathogenic/Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006554732

NM_203447.4(DOCK8):c.5567T>A (p.Leu1856Ter) SNV
Germline
Chr9:443503 Pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006566459

NM_203447.4(DOCK8):c.742-1G>A SNV
Germline
Chr9:317042 Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006566629

NM_203447.4(DOCK8):c.5428C>T (p.Gln1810Ter) SNV
Germline
Chr9:441947 Pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006566824

NM_203447.4(DOCK8):c.726C>G (p.Tyr242Ter) SNV
Germline
Chr9:312151 Pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006567042

NM_203447.4(DOCK8):c.1798-1G>A SNV
Germline
Chr9:370229 Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005622395

NM_203447.4(DOCK8):c.5625T>G (p.Tyr1875Ter) SNV
Germline
Chr9:446414 Pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005860971

NM_203447.4(DOCK8):c.115C>T (p.Arg39Ter) SNV
Germline
Chr9:271688 Pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006488079

NM_203447.4(DOCK8):c.1869-2A>G SNV
Germline
Chr9:371426 Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006521575

NM_203447.4(DOCK8):c.1044+1G>C SNV
Germline
Chr9:328172 Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006514866

NM_203447.4(DOCK8):c.3235-1G>C SNV
Germline
Chr9:404917 Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006525721

NM_203447.4(DOCK8):c.156+2T>C SNV
Germline
Chr9:271731 Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006572412

NM_203447.4(DOCK8):c.4242-1G>C SNV
Germline
Chr9:426884 Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006632251