Total 13 pathogenic variants reported for Hyper-IgE syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_139276.3(STAT3):c.1909G>A (p.Val637Met)	SNV Germline	Chr17:42322474	Pathogenic	Hyper-IgE recurrent infection syndrome 1, autosomal dominant Condition: not provided Hyper-IgE syndrome Hyper-IgE recurrent infection syndrome 1, autosomal dominant STAT3 gain of function	Criteria Provided Multiple Submitters No Conflicts	CA341510	rs_113994139	9 SubmittersRCV000019970 RCV000317206 RCV000587895 RCV000653282
NM_015599.3(PGM3):c.248T>C (p.Leu83Ser)	SNV Germline	Chr6:83188755	Pathogenic	Hyper-IgE syndrome Immunodeficiency 23	No Assertion Criteria Provided	CA156418	rs_267608260	2 SubmittersRCV000144537 RCV000119832
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_139276.3(STAT3):c.1979T>C (p.Met660Thr)	SNV Germline	Chr17:42322404	Pathogenic/Likely pathogenic	Condition: not provided Hyper-IgE recurrent infection syndrome 1, autosomal dominant STAT3 gain of function Hyper-IgE syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10588650	rs_886039434	5 SubmittersRCV000255312 RCV000792133 RCV000586892
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	Criteria Provided Conflicting Classifications	CA4957483	rs_200243583	6 SubmittersRCV000336278 RCV001821121 RCV003430969 RCV003957869 RCV005090619
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	CA385395212	rs_2548025666	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	CA385395224	rs_11172102	1 SubmittersRCV003333717
NM_003153.5(STAT6):c.1255G>C (p.Asp419His)	SNV Germline/somatic	Chr12:57102879	Likely pathogenic	Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections Neoplasm	Criteria Provided Single Submitter	CA385395237	rs_11172102	3 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	CA385396287	rs_2548028819	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	CA385427840	rs_2548019791	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	CA385396373	rs_2548028861	1 SubmittersRCV003333721