Total 11 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
STAT3 gain of function
Hyper-IgE recurrent infection syndrome 1, autosomal dominant		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341510 rs_113994139

9 SubmittersRCV000019970RCV000317206RCV000587895RCV000653282
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 SubmittersRCV000144537RCV000119832
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 SubmittersRCV000119833RCV000144536
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 SubmittersRCV000255312RCV000586892RCV000792133
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 SubmittersRCV003333718RCV004673874
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