Total 43 pathogenic variants reported for SHORT syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_181523.3(PIK3R1):c.893G>A (p.Trp298Ter) SNV
Germline		 Chr5:68280983 Pathogenic Agammaglobulinemia 7, autosomal recessive
SHORT syndrome
Agammaglobulinemia 7, autosomal recessive
Immunodeficiency 36		 Criteria Provided
Single Submitter
 CA143682 rs_397509384

2 SubmittersRCV000041966RCV001388977
NM_181523.3(PIK3R1):c.1465G>A (p.Glu489Lys) SNV
Germline		 Chr5:68294575 Pathogenic SHORT syndrome No Assertion Criteria Provided
 CA344798 rs_397514047

2 SubmittersRCV000054533
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) SNV
Germline		 Chr5:68296301 Pathogenic/Likely pathogenic SHORT syndrome
Condition: not provided
SHORT syndrome
Agammaglobulinemia 7, autosomal recessive
Immunodeficiency 36
Immunodeficiency 36
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344799 rs_397515453

12 SubmittersRCV000054534RCV000414540RCV000515192RCV001197921RCV001265992
NM_181523.3(PIK3R1):c.1425+1G>T SNV
Germline		 Chr5:68293835 Pathogenic Immunodeficiency 36
Condition: not provided
SHORT syndrome
Agammaglobulinemia 7, autosomal recessive
Immunodeficiency 36		 Criteria Provided
Multiple Submitters
No Conflicts
 CA170735 rs_587777709

5 SubmittersRCV000144065RCV000349198RCV001218386
NM_181523.3(PIK3R1):c.1425+1G>C SNV
Germline		 Chr5:68293835 Pathogenic Immunodeficiency 36
Agammaglobulinemia 7, autosomal recessive
SHORT syndrome
Immunodeficiency 36
See cases
not specified
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA170736 rs_587777709

5 SubmittersRCV000144066RCV000800719RCV003156075RCV000508456RCV000623166
NM_181523.3(PIK3R1):c.1106C>T (p.Thr369Ile) SNV
Germline		 Chr5:68293187 Likely pathogenic SHORT syndrome Criteria Provided
Single Submitter
 CA272459 rs_587784325

1 SubmittersRCV000147273
NM_181523.3(PIK3R1):c.1460T>C (p.Phe487Ser) SNV
Germline		 Chr5:68294570 Likely pathogenic SHORT syndrome Criteria Provided
Single Submitter
 CA276157 rs_797045063

1 SubmittersRCV000191118
NM_181523.3(PIK3R1):c.1425+1G>A SNV
Germline/somatic		 Chr5:68293835 Pathogenic/Likely pathogenic Condition: not provided
Immunodeficiency 36
Immunodeficiency 36
Agammaglobulinemia 7, autosomal recessive
SHORT syndrome
SHORT syndrome
Inherited Immunodeficiency Diseases
Inborn genetic diseases
See cases
PIK3R1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16042620 rs_587777709

13 SubmittersRCV000413301RCV000515768RCV000705809RCV000987525RCV001027613RCV001266930RCV003156092RCV003922673
NM_181523.3(PIK3R1):c.1692C>G (p.Asn564Lys) SNV
Germline/somatic		 Chr5:68295271 Pathogenic Neoplasm
Immunodeficiency 36
Agammaglobulinemia 7, autosomal recessive
SHORT syndrome		 Criteria Provided
Single Submitter
 CA16602529 rs_773686816

2 SubmittersRCV000424889RCV001309508
NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter) SNV
Germline/somatic		 Chr5:68293790 Pathogenic/Likely pathogenic Neoplasm
SHORT syndrome
Agammaglobulinemia 7, autosomal recessive
Immunodeficiency 36
SHORT syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16602707 rs_1057519838

3 SubmittersRCV000433630RCV000799708RCV003333061
NM_181523.3(PIK3R1):c.552C>T (p.Asp184=) SNV
Germline		 Chr5:68279651 Conflicting classifications of pathogenicity not specified
Agammaglobulinemia 7, autosomal recessive
Immunodeficiency 36
SHORT syndrome		 Criteria Provided
Conflicting Classifications
 CA3290072 rs_374140006

2 SubmittersRCV000503574RCV003766843
NM_181523.3(PIK3R1):c.1425+2T>A SNV
Germline		 Chr5:68293836 Pathogenic Immunodeficiency 36
Agammaglobulinemia 7, autosomal recessive
Immunodeficiency 36
SHORT syndrome		 Criteria Provided
Single Submitter
 CA359880509 rs_1554051075

2 SubmittersRCV000515774RCV002527446
NM_181523.3(PIK3R1):c.1020-3C>T SNV
Germline		 Chr5:68293098 Conflicting classifications of pathogenicity SHORT syndrome
Immunodeficiency 36
Agammaglobulinemia 7, autosomal recessive
not specified		 Criteria Provided
Conflicting Classifications
 CA3290318 rs_200653607

2 SubmittersRCV000638597RCV001816586
NM_181523.3(PIK3R1):c.1185A>G (p.Pro395=) SNV
Germline		 Chr5:68293369 Conflicting classifications of pathogenicity Condition: not provided
SHORT syndrome
Immunodeficiency 36
Agammaglobulinemia 7, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA3290348 rs_149905863

2 SubmittersRCV000659016RCV001087064
NM_181523.3(PIK3R1):c.1020-8C>G SNV
Germline		 Chr5:68293093 Conflicting classifications of pathogenicity Condition: not provided
SHORT syndrome
Immunodeficiency 36
Agammaglobulinemia 7, autosomal recessive		 Criteria Provided
Conflicting Classifications
 rs_770213442

2 SubmittersRCV000659015RCV001502380
NM_181523.3(PIK3R1):c.917-1513G>T SNV
Germline		 Chr5:68290746 Conflicting classifications of pathogenicity SHORT syndrome
Immunodeficiency 36
Agammaglobulinemia 7, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_144312303

4 SubmittersRCV000768046RCV001796779
NM_181523.3(PIK3R1):c.1300-2A>G SNV
Germline/somatic		 Chr5:68293707 Likely pathogenic Inherited Immunodeficiency Diseases
Agammaglobulinemia 7, autosomal recessive
SHORT syndrome
Immunodeficiency 36
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1403833564

3 SubmittersRCV001027611RCV001064934RCV001731193
NM_181523.3(PIK3R1):c.502+1G>C SNV
Germline		 Chr5:68274014 Likely pathogenic SHORT syndrome Criteria Provided
Single Submitter
 rs_773461483

1 SubmittersRCV001192682
NM_181523.3(PIK3R1):c.901C>T (p.Arg301Ter) SNV
Germline		 Chr5:68280991 Pathogenic SHORT syndrome
Agammaglobulinemia 7, autosomal recessive
Immunodeficiency 36
PIK3R1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_367669362

2 SubmittersRCV001384927RCV003399205
NM_181523.3(PIK3R1):c.428-6T>C SNV
Germline		 Chr5:68273933 Conflicting classifications of pathogenicity Immunodeficiency 36
SHORT syndrome
Agammaglobulinemia 7, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1746468268

2 SubmittersRCV001430652RCV003222321
NM_181523.3(PIK3R1):c.305C>T (p.Ser102Leu) SNV
Germline		 Chr5:68226980 Conflicting classifications of pathogenicity Agammaglobulinemia 7, autosomal recessive
SHORT syndrome
Immunodeficiency 36
SHORT syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_368742778

3 SubmittersRCV001467141RCV001824968RCV003132500
NM_181523.3(PIK3R1):c.1426-20T>G SNV
Germline		 Chr5:68294516 Conflicting classifications of pathogenicity Agammaglobulinemia 7, autosomal recessive
Immunodeficiency 36
SHORT syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_201254436

2 SubmittersRCV002074053RCV003237667
NM_181523.3(PIK3R1):c.484C>T (p.Arg162Ter) SNV
Germline		 Chr5:68273995 Pathogenic Immunodeficiency 36
Agammaglobulinemia 7, autosomal recessive
SHORT syndrome		 Criteria Provided
Single Submitter
 rs_1230037871

1 SubmittersRCV001877177
NM_181523.3(PIK3R1):c.450C>G (p.Tyr150Ter) SNV
Germline		 Chr5:68273961 Pathogenic SHORT syndrome
Immunodeficiency 36
Agammaglobulinemia 7, autosomal recessive		 Criteria Provided
Single Submitter
 rs_1339790364

1 SubmittersRCV001999758
NM_181523.3(PIK3R1):c.916+1G>A SNV
Germline		 Chr5:68281007 Pathogenic SHORT syndrome Criteria Provided
Single Submitter
 rs_2112197421

1 SubmittersRCV002250237
NM_181523.3(PIK3R1):c.502+1G>T SNV
Germline		 Chr5:68274014 Likely pathogenic SHORT syndrome Criteria Provided
Single Submitter
 rs_773461483

1 SubmittersRCV002251137
NM_181523.3(PIK3R1):c.916+2T>C SNV
Germline		 Chr5:68281008 Likely pathogenic Immunodeficiency 36
SHORT syndrome
Agammaglobulinemia 7, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV002863776
NM_181523.3(PIK3R1):c.1946G>A (p.Arg649Gln) SNV
Germline		 Chr5:68296302 Likely pathogenic Immunodeficiency 36
Agammaglobulinemia 7, autosomal recessive
SHORT syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV002942435
NM_181523.3(PIK3R1):c.1072C>T (p.Arg358Ter) SNV
Germline		 Chr5:68293153 Pathogenic SHORT syndrome
Agammaglobulinemia 7, autosomal recessive
Immunodeficiency 36		 Criteria Provided
Single Submitter

1 SubmittersRCV003051784