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 Autosomal recessive hyper-IgE syndrome	Criteria Provided Single Submitter	CA114673	rs_112321280	2 SubmittersRCV000000999 RCV003595851
NM_139276.3(STAT3):c.1909G>A (p.Val637Met)	SNV Germline	Chr17:42322474	Pathogenic	Hyper-IgE syndrome Hyper-IgE recurrent infection syndrome 1, autosomal dominant Condition: not provided Hyper-IgE recurrent infection syndrome 1, autosomal dominant STAT3 gain of function	Criteria Provided Multiple Submitters No Conflicts	CA341510	rs_113994139	9 SubmittersRCV000587895 RCV000019970 RCV000317206 RCV000653282
NM_015599.3(PGM3):c.248T>C (p.Leu83Ser)	SNV Germline	Chr6:83188755	Pathogenic	Immunodeficiency 23 Hyper-IgE syndrome	No Assertion Criteria Provided	CA156418	rs_267608260	2 SubmittersRCV000119832 RCV000144537
NM_015599.3(PGM3):c.1504G>T (p.Asp502Tyr)	SNV Germline	Chr6:83170340	Pathogenic	Immunodeficiency 23 Hyper-IgE syndrome	No Assertion Criteria Provided	CA156420	rs_267608261	2 SubmittersRCV000119833 RCV000144536
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 DOCK8-related disorder Condition: not provided Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA249195	rs_151094543	6 SubmittersRCV000202995 RCV000645157 RCV003401098 RCV001697210 RCV003761826
NM_203447.4(DOCK8):c.2017A>T (p.Ile673Phe)	SNV Germline	Chr9:372194	Conflicting classifications of pathogenicity	not specified Combined immunodeficiency due to DOCK8 deficiency Condition: not provided Autosomal recessive hyper-IgE syndrome DOCK8-related disorder	Criteria Provided Conflicting Classifications	CA4958048	rs_372858877	6 SubmittersRCV000213603 RCV000808945 RCV000766471 RCV003595894 RCV003947716
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 Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA4958745	rs_753242273	3 SubmittersRCV000216010 RCV000893485 RCV003595893
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 Autosomal recessive hyper-IgE syndrome DOCK8-related disorder	Criteria Provided Conflicting Classifications	CA4957100	rs_192864327	14 SubmittersRCV000256030 RCV000645149 RCV000825915 RCV001251745 RCV003761883 RCV003930033
NM_139276.3(STAT3):c.1979T>C (p.Met660Thr)	SNV Germline	Chr17:42322404	Pathogenic/Likely pathogenic	Condition: not provided Hyper-IgE syndrome STAT3 gain of function Hyper-IgE recurrent infection syndrome 1, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA10588650	rs_886039434	5 SubmittersRCV000255312 RCV000586892 RCV000792133
NM_203447.4(DOCK8):c.949C>T (p.Arg317Ter)	SNV Germline	Chr9:328076	Pathogenic	Condition: not provided Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome	Criteria Provided Multiple Submitters No Conflicts	CA4957539	rs_113432057	3 SubmittersRCV000398158 RCV002282098 RCV003595907
NM_203447.4(DOCK8):c.663C>A (p.Asp221Glu)	SNV Germline	Chr9:312088	Conflicting classifications of pathogenicity	Intellectual disability Combined immunodeficiency due to DOCK8 deficiency Condition: not provided DOCK8-related disorder Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA4957358	rs_139391329	6 SubmittersRCV001251743 RCV001085149 RCV000762543 RCV003902435 RCV003761949
NM_203447.4(DOCK8):c.1044+13G>T	SNV Germline	Chr9:328184	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA4957572	rs_754374567	2 SubmittersRCV000301184 RCV003761950
NM_203447.4(DOCK8):c.1797+13A>C	SNV Germline	Chr9:368148	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA4957880	rs_776147775	2 SubmittersRCV000323624 RCV003595943
NM_203447.4(DOCK8):c.3519C>T (p.Ala1173=)	SNV Germline	Chr9:407058	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4958708	rs_144299704	3 SubmittersRCV000262712 RCV003761961 RCV003430972
NM_203447.4(DOCK8):c.53+11C>T	SNV Germline	Chr9:215040	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4956924	rs_764626266	3 SubmittersRCV000373258 RCV003595937 RCV004696129
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 Autosomal recessive hyper-IgE syndrome DOCK8-related disorder	Criteria Provided Conflicting Classifications	CA4957202	rs_150742426	11 SubmittersRCV000645163 RCV001251744 RCV001531727 RCV001821120 RCV003761945 RCV003922651
NM_203447.4(DOCK8):c.1391C>A (p.Ser464Tyr)	SNV Germline	Chr9:336687	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome DOCK8-related disorder	Criteria Provided Conflicting Classifications	CA4957710	rs_531279290	3 SubmittersRCV000269945 RCV003595942 RCV004739710
NM_203447.4(DOCK8):c.36C>A (p.Phe12Leu)	SNV Germline	Chr9:215012	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA4956910	rs_566738926	2 SubmittersRCV000332616 RCV003761943
NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu)	SNV Germline	Chr9:304670	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Condition: not provided Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA4957259	rs_146490788	8 SubmittersRCV000768199 RCV000762542 RCV003595938
NM_203447.4(DOCK8):c.828-7A>G	SNV Germline	Chr9:325664	Conflicting classifications of pathogenicity	Hyper-IgE syndrome not specified Condition: not provided DOCK8-related disorder Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA4957483	rs_200243583	5 SubmittersRCV000336278 RCV001821121 RCV003430969 RCV003957869 RCV003595941
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 Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA4957247	rs_149918318	6 SubmittersRCV000413355 RCV000645182 RCV003897816 RCV004584698 RCV003761946
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 Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA4957315	rs_143461644	4 SubmittersRCV000693678 RCV002244840 RCV003761948
NM_203447.4(DOCK8):c.4497G>A (p.Glu1499=)	SNV Germline	Chr9:429725	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA10633788	rs_886063957	2 SubmittersRCV000364099 RCV003761962
NM_203447.4(DOCK8):c.5139C>T (p.Asp1713=)	SNV Germline	Chr9:439304	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4959317	rs_568641163	3 SubmittersRCV000264591 RCV003595950 RCV004975491
NM_203447.4(DOCK8):c.3195G>A (p.Arg1065=)	SNV Germline	Chr9:399220	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA10634122	rs_781062154	2 SubmittersRCV000346650 RCV003761956
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 Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA4958564	rs_150298985	4 SubmittersRCV000893429 RCV001085892 RCV001251749 RCV003595945
NM_203447.4(DOCK8):c.3270T>C (p.Ile1090=)	SNV Germline	Chr9:404953	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome DOCK8-related disorder	Criteria Provided Conflicting Classifications	CA4958625	rs_377297446	3 SubmittersRCV000266200 RCV003761958 RCV003950303
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 Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA4958637	rs_138810908	7 SubmittersRCV000526922 RCV001723965 RCV003987525 RCV003761959
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 Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA4958917	rs_111306749	7 SubmittersRCV000601801 RCV000905669 RCV001573987 RCV003595949
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 Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA4959348	rs_117109271	3 SubmittersRCV000479759 RCV001088227 RCV003595951
NM_203447.4(DOCK8):c.1648C>T (p.Arg550Ter)	SNV Germline	Chr9:340290	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive hyper-IgE syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16042694	rs_1057518028	3 SubmittersRCV000412782 RCV003761966
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 Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA4958890	rs_116920018	10 SubmittersRCV000414337 RCV000645180 RCV001507743 RCV003922668 RCV003761965
NM_203447.4(DOCK8):c.1582C>A (p.Leu528Met)	SNV Germline	Chr9:340224	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency not specified Autosomal recessive hyper-IgE syndrome Condition: not provided DOCK8-related disorder	Criteria Provided Conflicting Classifications	CA4957793	rs_146250176	5 SubmittersRCV000530757 RCV001821159 RCV003761974 RCV001705568 RCV003970112
NM_203447.4(DOCK8):c.2971-6C>T	SNV Germline	Chr9:396779	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive hyper-IgE syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4958452	rs_773500215	4 SubmittersRCV000422081 RCV004546493 RCV003595975 RCV004619287
NM_203447.4(DOCK8):c.3988C>G (p.Leu1330Val)	SNV Germline	Chr9:420548	Conflicting classifications of pathogenicity	Condition: not provided Intellectual disability Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome DOCK8-related disorder	Criteria Provided Conflicting Classifications	CA4958884	rs_148081681	5 SubmittersRCV000439452 RCV001251750 RCV001087724 RCV003595959 RCV003912613
NM_203447.4(DOCK8):c.2971-1G>A	SNV Germline	Chr9:396784	Pathogenic	Condition: not provided Autosomal recessive hyper-IgE syndrome	Criteria Provided Multiple Submitters No Conflicts	CA4958455	rs_777066716	2 SubmittersRCV000431039 RCV003595961
NM_203447.4(DOCK8):c.3603C>G (p.Arg1201=)	SNV Germline	Chr9:414854	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA4958758	rs_149908718	2 SubmittersRCV000417513 RCV003595988
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 Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA4957992	rs_140134223	3 SubmittersRCV000421559 RCV000645162 RCV003595958
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 Autosomal recessive hyper-IgE syndrome DOCK8-related disorder	Criteria Provided Conflicting Classifications	CA4958695	rs_34390308	8 SubmittersRCV000479850 RCV001086901 RCV001821389 RCV003762746 RCV003925401
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 Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA4958016	rs_550289472	3 SubmittersRCV000489600 RCV001167344 RCV003596004
NM_203447.4(DOCK8):c.52A>G (p.Arg18Gly)	SNV Germline	Chr9:215028	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA4956918	rs_200689054	3 SubmittersRCV000624829 RCV000494317 RCV003762755
NM_203447.4(DOCK8):c.2971-5C>T	SNV Germline	Chr9:396780	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA4958453	rs_373718659	3 SubmittersRCV000509471 RCV003596009
NM_203447.4(DOCK8):c.2779A>G (p.Ile927Val)	SNV Germline	Chr9:386331	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA4958350	rs_759239515	3 SubmittersRCV000521870 RCV003596014
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 Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA4958471	rs_145844320	7 SubmittersRCV000521228 RCV000534712 RCV003155221 RCV003596011
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 Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA4959323	rs_144279637	3 SubmittersRCV000531138 RCV001797102 RCV003762784
NM_203447.4(DOCK8):c.405-8C>G	SNV Germline	Chr9:304573	Conflicting classifications of pathogenicity	not specified Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA4957236	rs_748853895	2 SubmittersRCV000578821 RCV003596042
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 Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA4957199	rs_141175202	3 SubmittersRCV000593065 RCV000983932 RCV003596052
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 Autosomal recessive hyper-IgE syndrome DOCK8-related disorder	Criteria Provided Conflicting Classifications	CA463700050	rs_1554708887	4 SubmittersRCV000610688 RCV000817998 RCV003596072 RCV003945552
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 Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications	CA4958857	rs_372829200	3 SubmittersRCV001334765 RCV001704754 RCV003596062
NM_203447.4(DOCK8):c.2971-4G>A	SNV Germline	Chr9:396781	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome Condition: not provided DOCK8-related disorder	Criteria Provided Conflicting Classifications	CA4958454	rs_186097329	4 SubmittersRCV000645160 RCV003596055 RCV001704701 RCV003927955
NM_203447.4(DOCK8):c.3263C>T (p.Thr1088Met)	SNV Germline	Chr9:404946	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Autosomal recessive hyper-IgE syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4958621	rs_149065013	4 SubmittersRCV000601144 RCV002531618 RCV003596070 RCV000733045
NM_203447.4(DOCK8):c.986C>T (p.Ala329Val)	SNV Germline	Chr9:328113	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Inborn genetic diseases Autosomal recessive hyper-IgE syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA4957552	rs_75352090	5 SubmittersRCV000645170 RCV000623051 RCV003762841 RCV004782477 RCV001571318
NM_203447.4(DOCK8):c.4162C>T (p.Arg1388Ter)	SNV Germline	Chr9:422056	Pathogenic	Condition: not provided Autosomal recessive hyper-IgE syndrome	Criteria Provided Multiple Submitters No Conflicts	CA372764572	rs_1476130680	2 SubmittersRCV000627240 RCV003596077
NM_203447.4(DOCK8):c.2779-2A>C	SNV Germline	Chr9:386329	Likely pathogenic	Autosomal recessive hyper-IgE syndrome	Criteria Provided Single Submitter	CA4958349	rs_776399238	1 SubmittersRCV003596099
NM_203447.4(DOCK8):c.2383G>C (p.Val795Leu)	SNV Germline	Chr9:377154	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency DOCK8-related disorder Inborn genetic diseases Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications		rs_369449324	4 SubmittersRCV000700047 RCV004740412 RCV004026498 RCV003596526
NM_203447.4(DOCK8):c.1868+6T>C	SNV Germline	Chr9:370306	Conflicting classifications of pathogenicity	not specified Autosomal recessive hyper-IgE syndrome DOCK8-related disorder	Criteria Provided Conflicting Classifications		rs_777072262	3 SubmittersRCV001816694 RCV003596489 RCV003907942
NM_203447.4(DOCK8):c.1680-2A>G	SNV Germline	Chr9:368016	Likely pathogenic	Autosomal recessive hyper-IgE syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_749633690	2 SubmittersRCV003596507 RCV002223911
NM_203447.4(DOCK8):c.5386C>T (p.Arg1796Ter)	SNV Germline	Chr9:441905	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications		rs_775544616	2 SubmittersRCV000699467 RCV003596525
NM_203447.4(DOCK8):c.3234+2T>C	SNV Germline	Chr9:399261	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications		rs_756871628	3 SubmittersRCV000695389 RCV003596513
NM_139276.3(STAT3):c.1234A>T (p.Thr412Ser)	SNV Germline	Chr17:42329457	Conflicting classifications of pathogenicity	Hyper-IgE syndrome Hyper-IgE recurrent infection syndrome 1, autosomal dominant STAT3 gain of function	Criteria Provided Conflicting Classifications		rs_1567713850	2 SubmittersRCV000781883 RCV001045489
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 Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications		rs_778451048	3 SubmittersRCV000820249 RCV002537463 RCV003596616
NM_203447.4(DOCK8):c.541C>G (p.His181Asp)	SNV Germline	Chr9:311966	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_200684000	3 SubmittersRCV000880794 RCV003762912 RCV003424437
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 Autosomal recessive hyper-IgE syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_141252560	4 SubmittersRCV000879098 RCV002251528 RCV003596637 RCV004027922
NM_203447.4(DOCK8):c.5962-9T>C	SNV Germline	Chr9:452002	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency not specified Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications		rs_1324502895	3 SubmittersRCV000893257 RCV001818681 RCV003596653
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 Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications		rs_138617736	3 SubmittersRCV000898497 RCV001818733 RCV003596659
NM_203447.4(DOCK8):c.1098G>A (p.Thr366=)	SNV Germline	Chr9:332451	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome DOCK8-related disorder	Criteria Provided Conflicting Classifications		rs_139297216	3 SubmittersRCV000925408 RCV003596711 RCV003983279
NM_203447.4(DOCK8):c.5205C>T (p.Ala1735=)	SNV Germline	Chr9:439370	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_150682688	3 SubmittersRCV000916304 RCV003596689 RCV004705915
NM_203447.4(DOCK8):c.53+10C>T	SNV Germline	Chr9:215039	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications		rs_763565243	2 SubmittersRCV001168672 RCV003595623
NM_203447.4(DOCK8):c.1036G>A (p.Val346Ile)	SNV Germline	Chr9:328163	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications		rs_148994877	2 SubmittersRCV001167141 RCV003595698
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 Autosomal recessive hyper-IgE syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_150595667	4 SubmittersRCV001165680 RCV003396780 RCV003595693 RCV003886483
NM_203447.4(DOCK8):c.1782T>C (p.Ala594=)	SNV Germline	Chr9:368120	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications		rs_748721463	2 SubmittersRCV001165760 RCV003763820
NM_203447.4(DOCK8):c.2444A>C (p.Asn815Thr)	SNV Germline	Chr9:379774	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications		rs_141451302	2 SubmittersRCV001165975 RCV003763821
NM_203447.4(DOCK8):c.5904T>A (p.Pro1968=)	SNV Germline	Chr9:449870	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications		rs_182402358	2 SubmittersRCV001167670 RCV003763824
NM_203447.4(DOCK8):c.6120G>A (p.Arg2040=)	SNV Germline	Chr9:463568	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications		rs_150524921	2 SubmittersRCV001169745 RCV003595702
NM_203447.4(DOCK8):c.3531-10G>C	SNV Germline	Chr9:414772	Conflicting classifications of pathogenicity	Autosomal recessive hyper-IgE syndrome Combined immunodeficiency due to DOCK8 deficiency	Criteria Provided Conflicting Classifications		rs_760907119	2 SubmittersRCV003595695 RCV001166895
NM_203447.4(DOCK8):c.4024-6G>C	SNV Germline	Chr9:420943	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications		rs_555906969	2 SubmittersRCV001168611 RCV003595700
NM_203447.4(DOCK8):c.4241+12G>A	SNV Germline	Chr9:422147	Conflicting classifications of pathogenicity	Autosomal recessive hyper-IgE syndrome Combined immunodeficiency due to DOCK8 deficiency	Criteria Provided Conflicting Classifications		rs_371073556	2 SubmittersRCV003595701 RCV001169370
NM_203447.4(DOCK8):c.4785+8G>A	SNV Germline	Chr9:432332	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications		rs_759399965	2 SubmittersRCV001167027 RCV003763822
NM_203447.4(DOCK8):c.5818-13G>A	SNV Germline	Chr9:449771	Conflicting classifications of pathogenicity	Autosomal recessive hyper-IgE syndrome Combined immunodeficiency due to DOCK8 deficiency	Criteria Provided Conflicting Classifications		rs_368826292	2 SubmittersRCV003595697 RCV001167087
NM_203447.4(DOCK8):c.5962-8C>T	SNV Germline	Chr9:452003	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency not specified Autosomal recessive hyper-IgE syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_749575443	5 SubmittersRCV001167671 RCV001726442 RCV003595699 RCV001702086
NM_203447.4(DOCK8):c.4241+19T>G	SNV Germline	Chr9:422154	Conflicting classifications of pathogenicity	Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications		rs_2056303175	2 SubmittersRCV001199259 RCV003770224
NM_203447.4(DOCK8):c.1963C>T (p.Gln655Ter)	SNV Germline	Chr9:371522	Pathogenic	Autosomal recessive hyper-IgE syndrome	Criteria Provided Single Submitter		rs_1287635563	1 SubmittersRCV003763857
NM_203447.4(DOCK8):c.3734C>T (p.Ser1245Leu)	SNV Germline	Chr9:418101	Conflicting classifications of pathogenicity	Condition: not provided not specified Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications		rs_373318465	3 SubmittersRCV003433102 RCV004770013 RCV003595734
NM_203447.4(DOCK8):c.6064A>G (p.Met2022Val)	SNV Germline	Chr9:452113	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications		rs_143458628	3 SubmittersRCV003426059 RCV003595756
NM_203447.4(DOCK8):c.3841-1G>T	SNV Germline	Chr9:420400	Likely pathogenic	Autosomal recessive hyper-IgE syndrome	Criteria Provided Single Submitter		rs_1486452597	1 SubmittersRCV003771224
NM_203447.4(DOCK8):c.5161C>T (p.Gln1721Ter)	SNV Germline	Chr9:439326	Pathogenic	Autosomal recessive hyper-IgE syndrome	Criteria Provided Single Submitter		rs_754989398	1 SubmittersRCV003761215
NM_203447.4(DOCK8):c.1798-4A>G	SNV Germline	Chr9:370226	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications		rs_774596616	4 SubmittersRCV001531728 RCV003761392
NM_203447.4(DOCK8):c.5799C>T (p.Ser1933=)	SNV Germline	Chr9:446588	Conflicting classifications of pathogenicity	not specified Autosomal recessive hyper-IgE syndrome	Criteria Provided Conflicting Classifications		rs_149602835	2 SubmittersRCV001820543 RCV003597219
NM_203447.4(DOCK8):c.53+1G>A	SNV Germline	Chr9:215030	Likely pathogenic	Autosomal recessive hyper-IgE syndrome	Criteria Provided Single Submitter		rs_2046707580	1 SubmittersRCV003762119
NM_203447.4(DOCK8):c.6115C>T (p.Gln2039Ter)	SNV Germline	Chr9:463563	Pathogenic	Autosomal recessive hyper-IgE syndrome	Criteria Provided Single Submitter		rs_2131982095	1 SubmittersRCV003762005
NM_203447.4(DOCK8):c.2464G>T (p.Glu822Ter)	SNV Germline	Chr9:379794	Pathogenic	Autosomal recessive hyper-IgE syndrome	Criteria Provided Single Submitter		rs_372503899	1 SubmittersRCV003772933
NM_203447.4(DOCK8):c.5620G>A (p.Glu1874Lys)	SNV Germline	Chr9:446409	Conflicting classifications of pathogenicity	Autosomal recessive hyper-IgE syndrome Inborn genetic diseases Combined immunodeficiency due to DOCK8 deficiency	Criteria Provided Conflicting Classifications		rs_779199376	3 SubmittersRCV003597262 RCV003167376 RCV004720343
NM_203447.4(DOCK8):c.1174C>T (p.Gln392Ter)	SNV Germline	Chr9:334273	Pathogenic/Likely pathogenic	Severe combined immunodeficiency disease Autosomal recessive hyper-IgE syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_372598000	2 SubmittersRCV002266193 RCV003763066
NM_203447.4(DOCK8):c.4070C>A (p.Ser1357Ter)	SNV Germline	Chr9:420995	Pathogenic	Autosomal recessive hyper-IgE syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003596164
NM_203447.4(DOCK8):c.1868+1G>A	SNV Germline	Chr9:370301	Likely pathogenic	Autosomal recessive hyper-IgE syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003761554
NM_203447.4(DOCK8):c.1125+1G>A	SNV Germline	Chr9:332479	Pathogenic	Autosomal recessive hyper-IgE syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003776618
NM_203447.4(DOCK8):c.310C>T (p.Gln104Ter)	SNV Germline	Chr9:286614	Pathogenic	Autosomal recessive hyper-IgE syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003763976
NM_203447.4(DOCK8):c.4974C>G (p.Tyr1658Ter)	SNV Germline	Chr9:434870	Pathogenic	Autosomal recessive hyper-IgE syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003764009
NM_203447.4(DOCK8):c.3550A>T (p.Lys1184Ter)	SNV Germline	Chr9:414801	Pathogenic	Autosomal recessive hyper-IgE syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003764032
NM_203447.4(DOCK8):c.4626+76A>G	SNV Germline	Chr9:429930	Likely pathogenic	Autosomal recessive hyper-IgE syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003596114
NM_203447.4(DOCK8):c.4024-2A>G	SNV Germline	Chr9:420947	Likely pathogenic	Autosomal recessive hyper-IgE syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003764206
NM_003153.5(STAT6):c.1256A>G (p.Asp419Gly)	SNV Germline	Chr12:57102878	Pathogenic	Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections	No Assertion Criteria Provided			1 SubmittersRCV003333716
NM_003153.5(STAT6):c.1255G>T (p.Asp419Tyr)	SNV Germline	Chr12:57102879	Pathogenic	Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections	No Assertion Criteria Provided			1 SubmittersRCV003333717
NM_003153.5(STAT6):c.1255G>C (p.Asp419His)	SNV Germline/somatic	Chr12:57102879	Pathogenic	Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections Neoplasm	No Assertion Criteria Provided			2 SubmittersRCV003333718 RCV004673874
NM_003153.5(STAT6):c.1144G>C (p.Glu382Gln)	SNV Germline	Chr12:57104532	Pathogenic	Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections	No Assertion Criteria Provided			1 SubmittersRCV003333719
NM_003153.5(STAT6):c.1555G>C (p.Asp519His)	SNV Germline	Chr12:57100048	Pathogenic	Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections	No Assertion Criteria Provided			1 SubmittersRCV003333720
NM_003153.5(STAT6):c.1114G>A (p.Glu372Lys)	SNV Germline	Chr12:57104562	Pathogenic	Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections	No Assertion Criteria Provided			1 SubmittersRCV003333721
NM_203447.4(DOCK8):c.741+2T>C	SNV Germline	Chr9:312168	Likely pathogenic	Autosomal recessive hyper-IgE syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003762376
NM_203447.4(DOCK8):c.5490+2T>C	SNV Germline	Chr9:442011	Likely pathogenic	Autosomal recessive hyper-IgE syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003762310
NM_203447.4(DOCK8):c.510C>A (p.Cys170Ter)	SNV Germline	Chr9:304686	Pathogenic	Autosomal recessive hyper-IgE syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003763296
NM_203447.4(DOCK8):c.4215G>A (p.Trp1405Ter)	SNV Germline	Chr9:422109	Pathogenic	Autosomal recessive hyper-IgE syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003763443
NM_203447.4(DOCK8):c.6022C>T (p.Arg2008Ter)	SNV Germline	Chr9:452071	Pathogenic	Autosomal recessive hyper-IgE syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003763455

NM_203447.4(DOCK8):c.1418A>G (p.Lys473Arg)

SNV
Germline

Chr9:336714

Pathogenic

Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Single Submitter

CA114673

rs_112321280

2 SubmittersRCV000000999 RCV003595851

NM_139276.3(STAT3):c.1909G>A (p.Val637Met)

SNV
Germline

Chr17:42322474

Pathogenic

Hyper-IgE syndrome
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
Condition: not provided
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
STAT3 gain of function

Criteria Provided
Multiple Submitters
No Conflicts

CA341510

rs_113994139

9 SubmittersRCV000587895 RCV000019970 RCV000317206 RCV000653282

NM_015599.3(PGM3):c.248T>C (p.Leu83Ser)

SNV
Germline

Chr6:83188755

Pathogenic

Immunodeficiency 23
Hyper-IgE syndrome

No Assertion Criteria Provided

CA156418

rs_267608260

2 SubmittersRCV000119832 RCV000144537

NM_015599.3(PGM3):c.1504G>T (p.Asp502Tyr)

SNV
Germline

Chr6:83170340

Pathogenic

Immunodeficiency 23
Hyper-IgE syndrome

No Assertion Criteria Provided

CA156420

rs_267608261

2 SubmittersRCV000119833 RCV000144536

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
DOCK8-related disorder
Condition: not provided
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA249195

rs_151094543

6 SubmittersRCV000202995 RCV000645157 RCV003401098 RCV001697210 RCV003761826

NM_203447.4(DOCK8):c.2017A>T (p.Ile673Phe)

SNV
Germline

Chr9:372194

Conflicting classifications of pathogenicity

not specified
Combined immunodeficiency due to DOCK8 deficiency
Condition: not provided
Autosomal recessive hyper-IgE syndrome
DOCK8-related disorder

Criteria Provided
Conflicting Classifications

CA4958048

rs_372858877

6 SubmittersRCV000213603 RCV000808945 RCV000766471 RCV003595894 RCV003947716

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
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA4958745

rs_753242273

3 SubmittersRCV000216010 RCV000893485 RCV003595893

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
Autosomal recessive hyper-IgE syndrome
DOCK8-related disorder

Criteria Provided
Conflicting Classifications

CA4957100

rs_192864327

14 SubmittersRCV000256030 RCV000645149 RCV000825915 RCV001251745 RCV003761883 RCV003930033

NM_139276.3(STAT3):c.1979T>C (p.Met660Thr)

SNV
Germline

Chr17:42322404

Pathogenic/Likely pathogenic

Condition: not provided
Hyper-IgE syndrome
STAT3 gain of function
Hyper-IgE recurrent infection syndrome 1, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA10588650

rs_886039434

5 SubmittersRCV000255312 RCV000586892 RCV000792133

NM_203447.4(DOCK8):c.949C>T (p.Arg317Ter)

SNV
Germline

Chr9:328076

Pathogenic

Condition: not provided
Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA4957539

rs_113432057

3 SubmittersRCV000398158 RCV002282098 RCV003595907

NM_203447.4(DOCK8):c.663C>A (p.Asp221Glu)

SNV
Germline

Chr9:312088

Conflicting classifications of pathogenicity

Intellectual disability
Combined immunodeficiency due to DOCK8 deficiency
Condition: not provided
DOCK8-related disorder
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA4957358

rs_139391329

6 SubmittersRCV001251743 RCV001085149 RCV000762543 RCV003902435 RCV003761949

NM_203447.4(DOCK8):c.1044+13G>T

SNV
Germline

Chr9:328184

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA4957572

rs_754374567

2 SubmittersRCV000301184 RCV003761950

NM_203447.4(DOCK8):c.1797+13A>C

SNV
Germline

Chr9:368148

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA4957880

rs_776147775

2 SubmittersRCV000323624 RCV003595943

NM_203447.4(DOCK8):c.3519C>T (p.Ala1173=)

SNV
Germline

Chr9:407058

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4958708

rs_144299704

3 SubmittersRCV000262712 RCV003761961 RCV003430972

NM_203447.4(DOCK8):c.53+11C>T

SNV
Germline

Chr9:215040

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4956924

rs_764626266

3 SubmittersRCV000373258 RCV003595937 RCV004696129

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
Autosomal recessive hyper-IgE syndrome
DOCK8-related disorder

Criteria Provided
Conflicting Classifications

CA4957202

rs_150742426

11 SubmittersRCV000645163 RCV001251744 RCV001531727 RCV001821120 RCV003761945 RCV003922651

NM_203447.4(DOCK8):c.1391C>A (p.Ser464Tyr)

SNV
Germline

Chr9:336687

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome
DOCK8-related disorder

Criteria Provided
Conflicting Classifications

CA4957710

rs_531279290

3 SubmittersRCV000269945 RCV003595942 RCV004739710

NM_203447.4(DOCK8):c.36C>A (p.Phe12Leu)

SNV
Germline

Chr9:215012

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA4956910

rs_566738926

2 SubmittersRCV000332616 RCV003761943

NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu)

SNV
Germline

Chr9:304670

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Condition: not provided
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA4957259

rs_146490788

8 SubmittersRCV000768199 RCV000762542 RCV003595938

NM_203447.4(DOCK8):c.828-7A>G

SNV
Germline

Chr9:325664

Conflicting classifications of pathogenicity

Hyper-IgE syndrome
not specified
Condition: not provided
DOCK8-related disorder
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA4957483

rs_200243583

5 SubmittersRCV000336278 RCV001821121 RCV003430969 RCV003957869 RCV003595941

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
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA4957247

rs_149918318

6 SubmittersRCV000413355 RCV000645182 RCV003897816 RCV004584698 RCV003761946

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
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA4957315

rs_143461644

4 SubmittersRCV000693678 RCV002244840 RCV003761948

NM_203447.4(DOCK8):c.4497G>A (p.Glu1499=)

SNV
Germline

Chr9:429725

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA10633788

rs_886063957

2 SubmittersRCV000364099 RCV003761962

NM_203447.4(DOCK8):c.5139C>T (p.Asp1713=)

SNV
Germline

Chr9:439304

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4959317

rs_568641163

3 SubmittersRCV000264591 RCV003595950 RCV004975491

NM_203447.4(DOCK8):c.3195G>A (p.Arg1065=)

SNV
Germline

Chr9:399220

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA10634122

rs_781062154

2 SubmittersRCV000346650 RCV003761956

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
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA4958564

rs_150298985

4 SubmittersRCV000893429 RCV001085892 RCV001251749 RCV003595945

NM_203447.4(DOCK8):c.3270T>C (p.Ile1090=)

SNV
Germline

Chr9:404953

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome
DOCK8-related disorder

Criteria Provided
Conflicting Classifications

CA4958625

rs_377297446

3 SubmittersRCV000266200 RCV003761958 RCV003950303

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
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA4958637

rs_138810908

7 SubmittersRCV000526922 RCV001723965 RCV003987525 RCV003761959

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
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA4958917

rs_111306749

7 SubmittersRCV000601801 RCV000905669 RCV001573987 RCV003595949

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
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA4959348

rs_117109271

3 SubmittersRCV000479759 RCV001088227 RCV003595951

NM_203447.4(DOCK8):c.1648C>T (p.Arg550Ter)

SNV
Germline

Chr9:340290

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16042694

rs_1057518028

3 SubmittersRCV000412782 RCV003761966

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
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA4958890

rs_116920018

10 SubmittersRCV000414337 RCV000645180 RCV001507743 RCV003922668 RCV003761965

NM_203447.4(DOCK8):c.1582C>A (p.Leu528Met)

SNV
Germline

Chr9:340224

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
not specified
Autosomal recessive hyper-IgE syndrome
Condition: not provided
DOCK8-related disorder

Criteria Provided
Conflicting Classifications

CA4957793

rs_146250176

5 SubmittersRCV000530757 RCV001821159 RCV003761974 RCV001705568 RCV003970112

NM_203447.4(DOCK8):c.2971-6C>T

SNV
Germline

Chr9:396779

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive hyper-IgE syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4958452

rs_773500215

4 SubmittersRCV000422081 RCV004546493 RCV003595975 RCV004619287

NM_203447.4(DOCK8):c.3988C>G (p.Leu1330Val)

SNV
Germline

Chr9:420548

Conflicting classifications of pathogenicity

Condition: not provided
Intellectual disability
Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome
DOCK8-related disorder

Criteria Provided
Conflicting Classifications

CA4958884

rs_148081681

5 SubmittersRCV000439452 RCV001251750 RCV001087724 RCV003595959 RCV003912613

NM_203447.4(DOCK8):c.2971-1G>A

SNV
Germline

Chr9:396784

Pathogenic

Condition: not provided
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA4958455

rs_777066716

2 SubmittersRCV000431039 RCV003595961

NM_203447.4(DOCK8):c.3603C>G (p.Arg1201=)

SNV
Germline

Chr9:414854

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA4958758

rs_149908718

2 SubmittersRCV000417513 RCV003595988

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
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA4957992

rs_140134223

3 SubmittersRCV000421559 RCV000645162 RCV003595958

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
Autosomal recessive hyper-IgE syndrome
DOCK8-related disorder

Criteria Provided
Conflicting Classifications

CA4958695

rs_34390308

8 SubmittersRCV000479850 RCV001086901 RCV001821389 RCV003762746 RCV003925401

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
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA4958016

rs_550289472

3 SubmittersRCV000489600 RCV001167344 RCV003596004

NM_203447.4(DOCK8):c.52A>G (p.Arg18Gly)

SNV
Germline

Chr9:215028

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA4956918

rs_200689054

3 SubmittersRCV000624829 RCV000494317 RCV003762755

NM_203447.4(DOCK8):c.2971-5C>T

SNV
Germline

Chr9:396780

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA4958453

rs_373718659

3 SubmittersRCV000509471 RCV003596009

NM_203447.4(DOCK8):c.2779A>G (p.Ile927Val)

SNV
Germline

Chr9:386331

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA4958350

rs_759239515

3 SubmittersRCV000521870 RCV003596014

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
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA4958471

rs_145844320

7 SubmittersRCV000521228 RCV000534712 RCV003155221 RCV003596011

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
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA4959323

rs_144279637

3 SubmittersRCV000531138 RCV001797102 RCV003762784

NM_203447.4(DOCK8):c.405-8C>G

SNV
Germline

Chr9:304573

Conflicting classifications of pathogenicity

not specified
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA4957236

rs_748853895

2 SubmittersRCV000578821 RCV003596042

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
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA4957199

rs_141175202

3 SubmittersRCV000593065 RCV000983932 RCV003596052

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
Autosomal recessive hyper-IgE syndrome
DOCK8-related disorder

Criteria Provided
Conflicting Classifications

CA463700050

rs_1554708887

4 SubmittersRCV000610688 RCV000817998 RCV003596072 RCV003945552

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
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

CA4958857

rs_372829200

3 SubmittersRCV001334765 RCV001704754 RCV003596062

NM_203447.4(DOCK8):c.2971-4G>A

SNV
Germline

Chr9:396781

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome
Condition: not provided
DOCK8-related disorder

Criteria Provided
Conflicting Classifications

CA4958454

rs_186097329

4 SubmittersRCV000645160 RCV003596055 RCV001704701 RCV003927955

NM_203447.4(DOCK8):c.3263C>T (p.Thr1088Met)

SNV
Germline

Chr9:404946

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Autosomal recessive hyper-IgE syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4958621

rs_149065013

4 SubmittersRCV000601144 RCV002531618 RCV003596070 RCV000733045

NM_203447.4(DOCK8):c.986C>T (p.Ala329Val)

SNV
Germline

Chr9:328113

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Inborn genetic diseases
Autosomal recessive hyper-IgE syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4957552

rs_75352090

5 SubmittersRCV000645170 RCV000623051 RCV003762841 RCV004782477 RCV001571318

NM_203447.4(DOCK8):c.4162C>T (p.Arg1388Ter)

SNV
Germline

Chr9:422056

Pathogenic

Condition: not provided
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA372764572

rs_1476130680

2 SubmittersRCV000627240 RCV003596077

NM_203447.4(DOCK8):c.2779-2A>C

SNV
Germline

Chr9:386329

Likely pathogenic

Autosomal recessive hyper-IgE syndrome

Criteria Provided
Single Submitter

CA4958349

rs_776399238

1 SubmittersRCV003596099

NM_203447.4(DOCK8):c.2383G>C (p.Val795Leu)

SNV
Germline

Chr9:377154

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
DOCK8-related disorder
Inborn genetic diseases
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

rs_369449324

4 SubmittersRCV000700047 RCV004740412 RCV004026498 RCV003596526

NM_203447.4(DOCK8):c.1868+6T>C

SNV
Germline

Chr9:370306

Conflicting classifications of pathogenicity

not specified
Autosomal recessive hyper-IgE syndrome
DOCK8-related disorder

Criteria Provided
Conflicting Classifications

rs_777072262

3 SubmittersRCV001816694 RCV003596489 RCV003907942

NM_203447.4(DOCK8):c.1680-2A>G

SNV
Germline

Chr9:368016

Likely pathogenic

Autosomal recessive hyper-IgE syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_749633690

2 SubmittersRCV003596507 RCV002223911

NM_203447.4(DOCK8):c.5386C>T (p.Arg1796Ter)

SNV
Germline

Chr9:441905

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

rs_775544616

2 SubmittersRCV000699467 RCV003596525

NM_203447.4(DOCK8):c.3234+2T>C

SNV
Germline

Chr9:399261

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

rs_756871628

3 SubmittersRCV000695389 RCV003596513

NM_139276.3(STAT3):c.1234A>T (p.Thr412Ser)

SNV
Germline

Chr17:42329457

Conflicting classifications of pathogenicity

Hyper-IgE syndrome
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
STAT3 gain of function

Criteria Provided
Conflicting Classifications

rs_1567713850

2 SubmittersRCV000781883 RCV001045489

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
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

rs_778451048

3 SubmittersRCV000820249 RCV002537463 RCV003596616

NM_203447.4(DOCK8):c.541C>G (p.His181Asp)

SNV
Germline

Chr9:311966

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200684000

3 SubmittersRCV000880794 RCV003762912 RCV003424437

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
Autosomal recessive hyper-IgE syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_141252560

4 SubmittersRCV000879098 RCV002251528 RCV003596637 RCV004027922

NM_203447.4(DOCK8):c.5962-9T>C

SNV
Germline

Chr9:452002

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
not specified
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

rs_1324502895

3 SubmittersRCV000893257 RCV001818681 RCV003596653

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
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

rs_138617736

3 SubmittersRCV000898497 RCV001818733 RCV003596659

NM_203447.4(DOCK8):c.1098G>A (p.Thr366=)

SNV
Germline

Chr9:332451

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome
DOCK8-related disorder

Criteria Provided
Conflicting Classifications

rs_139297216

3 SubmittersRCV000925408 RCV003596711 RCV003983279

NM_203447.4(DOCK8):c.5205C>T (p.Ala1735=)

SNV
Germline

Chr9:439370

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_150682688

3 SubmittersRCV000916304 RCV003596689 RCV004705915

NM_203447.4(DOCK8):c.53+10C>T

SNV
Germline

Chr9:215039

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

rs_763565243

2 SubmittersRCV001168672 RCV003595623

NM_203447.4(DOCK8):c.1036G>A (p.Val346Ile)

SNV
Germline

Chr9:328163

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

rs_148994877

2 SubmittersRCV001167141 RCV003595698

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
Autosomal recessive hyper-IgE syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_150595667

4 SubmittersRCV001165680 RCV003396780 RCV003595693 RCV003886483

NM_203447.4(DOCK8):c.1782T>C (p.Ala594=)

SNV
Germline

Chr9:368120

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

rs_748721463

2 SubmittersRCV001165760 RCV003763820

NM_203447.4(DOCK8):c.2444A>C (p.Asn815Thr)

SNV
Germline

Chr9:379774

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

rs_141451302

2 SubmittersRCV001165975 RCV003763821

NM_203447.4(DOCK8):c.5904T>A (p.Pro1968=)

SNV
Germline

Chr9:449870

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

rs_182402358

2 SubmittersRCV001167670 RCV003763824

NM_203447.4(DOCK8):c.6120G>A (p.Arg2040=)

SNV
Germline

Chr9:463568

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

rs_150524921

2 SubmittersRCV001169745 RCV003595702

NM_203447.4(DOCK8):c.3531-10G>C

SNV
Germline

Chr9:414772

Conflicting classifications of pathogenicity

Autosomal recessive hyper-IgE syndrome
Combined immunodeficiency due to DOCK8 deficiency

Criteria Provided
Conflicting Classifications

rs_760907119

2 SubmittersRCV003595695 RCV001166895

NM_203447.4(DOCK8):c.4024-6G>C

SNV
Germline

Chr9:420943

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

rs_555906969

2 SubmittersRCV001168611 RCV003595700

NM_203447.4(DOCK8):c.4241+12G>A

SNV
Germline

Chr9:422147

Conflicting classifications of pathogenicity

Autosomal recessive hyper-IgE syndrome
Combined immunodeficiency due to DOCK8 deficiency

Criteria Provided
Conflicting Classifications

rs_371073556

2 SubmittersRCV003595701 RCV001169370

NM_203447.4(DOCK8):c.4785+8G>A

SNV
Germline

Chr9:432332

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

rs_759399965

2 SubmittersRCV001167027 RCV003763822

NM_203447.4(DOCK8):c.5818-13G>A

SNV
Germline

Chr9:449771

Conflicting classifications of pathogenicity

Autosomal recessive hyper-IgE syndrome
Combined immunodeficiency due to DOCK8 deficiency

Criteria Provided
Conflicting Classifications

rs_368826292

2 SubmittersRCV003595697 RCV001167087

NM_203447.4(DOCK8):c.5962-8C>T

SNV
Germline

Chr9:452003

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
not specified
Autosomal recessive hyper-IgE syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_749575443

5 SubmittersRCV001167671 RCV001726442 RCV003595699 RCV001702086

NM_203447.4(DOCK8):c.4241+19T>G

SNV
Germline

Chr9:422154

Conflicting classifications of pathogenicity

Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

rs_2056303175

2 SubmittersRCV001199259 RCV003770224

NM_203447.4(DOCK8):c.1963C>T (p.Gln655Ter)

SNV
Germline

Chr9:371522

Pathogenic

Autosomal recessive hyper-IgE syndrome

Criteria Provided
Single Submitter

rs_1287635563

1 SubmittersRCV003763857

NM_203447.4(DOCK8):c.3734C>T (p.Ser1245Leu)

SNV
Germline

Chr9:418101

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

rs_373318465

3 SubmittersRCV003433102 RCV004770013 RCV003595734

NM_203447.4(DOCK8):c.6064A>G (p.Met2022Val)

SNV
Germline

Chr9:452113

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

rs_143458628

3 SubmittersRCV003426059 RCV003595756

NM_203447.4(DOCK8):c.3841-1G>T

SNV
Germline

Chr9:420400

Likely pathogenic

Autosomal recessive hyper-IgE syndrome

Criteria Provided
Single Submitter

rs_1486452597

1 SubmittersRCV003771224

NM_203447.4(DOCK8):c.5161C>T (p.Gln1721Ter)

SNV
Germline

Chr9:439326

Pathogenic

Autosomal recessive hyper-IgE syndrome

Criteria Provided
Single Submitter

rs_754989398

1 SubmittersRCV003761215

NM_203447.4(DOCK8):c.1798-4A>G

SNV
Germline

Chr9:370226

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

rs_774596616

4 SubmittersRCV001531728 RCV003761392

NM_203447.4(DOCK8):c.5799C>T (p.Ser1933=)

SNV
Germline

Chr9:446588

Conflicting classifications of pathogenicity

not specified
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Conflicting Classifications

rs_149602835

2 SubmittersRCV001820543 RCV003597219

NM_203447.4(DOCK8):c.53+1G>A

SNV
Germline

Chr9:215030

Likely pathogenic

Autosomal recessive hyper-IgE syndrome

Criteria Provided
Single Submitter

rs_2046707580

1 SubmittersRCV003762119

NM_203447.4(DOCK8):c.6115C>T (p.Gln2039Ter)

SNV
Germline

Chr9:463563

Pathogenic

Autosomal recessive hyper-IgE syndrome

Criteria Provided
Single Submitter

rs_2131982095

1 SubmittersRCV003762005

NM_203447.4(DOCK8):c.2464G>T (p.Glu822Ter)

SNV
Germline

Chr9:379794

Pathogenic

Autosomal recessive hyper-IgE syndrome

Criteria Provided
Single Submitter

rs_372503899

1 SubmittersRCV003772933

NM_203447.4(DOCK8):c.5620G>A (p.Glu1874Lys)

SNV
Germline

Chr9:446409

Conflicting classifications of pathogenicity

Autosomal recessive hyper-IgE syndrome
Inborn genetic diseases
Combined immunodeficiency due to DOCK8 deficiency

Criteria Provided
Conflicting Classifications

rs_779199376

3 SubmittersRCV003597262 RCV003167376 RCV004720343

NM_203447.4(DOCK8):c.1174C>T (p.Gln392Ter)

SNV
Germline

Chr9:334273

Pathogenic/Likely pathogenic

Severe combined immunodeficiency disease
Autosomal recessive hyper-IgE syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_372598000

2 SubmittersRCV002266193 RCV003763066

NM_203447.4(DOCK8):c.4070C>A (p.Ser1357Ter)

SNV
Germline

Chr9:420995

Pathogenic

Autosomal recessive hyper-IgE syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003596164

NM_203447.4(DOCK8):c.1868+1G>A

SNV
Germline

Chr9:370301

Likely pathogenic

Autosomal recessive hyper-IgE syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003761554

NM_203447.4(DOCK8):c.1125+1G>A

SNV
Germline

Chr9:332479

Pathogenic

Autosomal recessive hyper-IgE syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003776618

NM_203447.4(DOCK8):c.310C>T (p.Gln104Ter)

SNV
Germline

Chr9:286614

Pathogenic

Autosomal recessive hyper-IgE syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003763976

NM_203447.4(DOCK8):c.4974C>G (p.Tyr1658Ter)

SNV
Germline

Chr9:434870

Pathogenic

Autosomal recessive hyper-IgE syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003764009

NM_203447.4(DOCK8):c.3550A>T (p.Lys1184Ter)

SNV
Germline

Chr9:414801

Pathogenic

Autosomal recessive hyper-IgE syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003764032

NM_203447.4(DOCK8):c.4626+76A>G

SNV
Germline

Chr9:429930

Likely pathogenic

Autosomal recessive hyper-IgE syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003596114

NM_203447.4(DOCK8):c.4024-2A>G

SNV
Germline

Chr9:420947

Likely pathogenic

Autosomal recessive hyper-IgE syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003764206

NM_003153.5(STAT6):c.1256A>G (p.Asp419Gly)

SNV
Germline

Chr12:57102878

Pathogenic

Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections

No Assertion Criteria Provided

1 SubmittersRCV003333716

NM_003153.5(STAT6):c.1255G>T (p.Asp419Tyr)

SNV
Germline

Chr12:57102879

Pathogenic

Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections

No Assertion Criteria Provided

1 SubmittersRCV003333717

NM_003153.5(STAT6):c.1255G>C (p.Asp419His)

SNV
Germline/somatic

Chr12:57102879

Pathogenic

Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
Neoplasm

No Assertion Criteria Provided

2 SubmittersRCV003333718 RCV004673874

NM_003153.5(STAT6):c.1144G>C (p.Glu382Gln)

SNV
Germline

Chr12:57104532

Pathogenic

Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections

No Assertion Criteria Provided

1 SubmittersRCV003333719

NM_003153.5(STAT6):c.1555G>C (p.Asp519His)

SNV
Germline

Chr12:57100048

Pathogenic

Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections

No Assertion Criteria Provided

1 SubmittersRCV003333720

NM_003153.5(STAT6):c.1114G>A (p.Glu372Lys)

SNV
Germline

Chr12:57104562

Pathogenic

Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections

No Assertion Criteria Provided

1 SubmittersRCV003333721

NM_203447.4(DOCK8):c.741+2T>C

SNV
Germline

Chr9:312168

Likely pathogenic

Autosomal recessive hyper-IgE syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003762376

NM_203447.4(DOCK8):c.5490+2T>C

SNV
Germline

Chr9:442011

Likely pathogenic

Autosomal recessive hyper-IgE syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003762310

NM_203447.4(DOCK8):c.510C>A (p.Cys170Ter)

SNV
Germline

Chr9:304686

Pathogenic

Autosomal recessive hyper-IgE syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003763296

NM_203447.4(DOCK8):c.4215G>A (p.Trp1405Ter)

SNV
Germline

Chr9:422109

Pathogenic

Autosomal recessive hyper-IgE syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003763443

NM_203447.4(DOCK8):c.6022C>T (p.Arg2008Ter)

SNV
Germline

Chr9:452071

Pathogenic

Autosomal recessive hyper-IgE syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003763455