Total 49 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
Agammaglobulinemia 7, autosomal recessive
SHORT syndrome
Immunodeficiency 36 with lymphoproliferation		 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
Agammaglobulinemia 7, autosomal recessive
Immunodeficiency 36 with lymphoproliferation
SHORT syndrome
Immunodeficiency 36 with lymphoproliferation
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344799 rs_397515453

14 SubmittersRCV000054534RCV000414540RCV000515192RCV001197921RCV001265992
NM_181523.3(PIK3R1):c.1892G>A (p.Arg631Gln) SNV
Germline		 Chr5:68296248 Conflicting classifications of pathogenicity SHORT syndrome Criteria Provided
Conflicting Classifications
 CA347796 rs_515726149

3 SubmittersRCV000202555
NM_181523.3(PIK3R1):c.1425+1G>T SNV
Germline		 Chr5:68293835 Pathogenic Immunodeficiency 36 with lymphoproliferation
Condition: not provided
Agammaglobulinemia 7, autosomal recessive
SHORT syndrome
Immunodeficiency 36 with lymphoproliferation		 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 with lymphoproliferation
not specified
Inborn genetic diseases
Agammaglobulinemia 7, autosomal recessive
SHORT syndrome
Immunodeficiency 36 with lymphoproliferation
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA170736 rs_587777709

5 SubmittersRCV000144066RCV000508456RCV000623166RCV000800719RCV003156075
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 with lymphoproliferation
Agammaglobulinemia 7, autosomal recessive
SHORT syndrome
Immunodeficiency 36 with lymphoproliferation
Inborn genetic diseases
See cases
PIK3R1-related disorder
Inherited Immunodeficiency Diseases
SHORT syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16042620 rs_587777709

14 SubmittersRCV000413301RCV000515768RCV000705809RCV001266930RCV003156092RCV003922673RCV001027613RCV000987525
NM_181523.3(PIK3R1):c.1692C>G (p.Asn564Lys) SNV
Germline		 Chr5:68295271 Conflicting classifications of pathogenicity Agammaglobulinemia 7, autosomal recessive
SHORT syndrome
Immunodeficiency 36 with lymphoproliferation
SHORT syndrome		 Criteria Provided
Conflicting Classifications
 CA16602529 rs_773686816

2 SubmittersRCV001309508RCV005252886
NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter) SNV
Germline		 Chr5:68293790 Pathogenic/Likely pathogenic SHORT syndrome
Agammaglobulinemia 7, autosomal recessive
SHORT syndrome
Immunodeficiency 36 with lymphoproliferation		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16602707 rs_1057519838

2 SubmittersRCV003333061RCV000799708
NM_181523.3(PIK3R1):c.552C>T (p.Asp184=) SNV
Germline		 Chr5:68279651 Conflicting classifications of pathogenicity not specified
Immunodeficiency 36 with lymphoproliferation
SHORT syndrome
Agammaglobulinemia 7, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA3290072 rs_374140006

2 SubmittersRCV000503574RCV003766843
NM_181523.3(PIK3R1):c.1425+2T>A SNV
Germline		 Chr5:68293836 Pathogenic Immunodeficiency 36 with lymphoproliferation
Immunodeficiency 36 with lymphoproliferation
SHORT syndrome
Agammaglobulinemia 7, autosomal recessive
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359880509 rs_1554051075

3 SubmittersRCV000515774RCV002527446RCV005384746
NM_181523.3(PIK3R1):c.1020-3C>T SNV
Germline		 Chr5:68293098 Conflicting classifications of pathogenicity Immunodeficiency 36 with lymphoproliferation
SHORT syndrome
Agammaglobulinemia 7, autosomal recessive
not specified		 Criteria Provided
Conflicting Classifications
 CA3290318 rs_200653607

3 SubmittersRCV000638597RCV001816586
NM_181523.3(PIK3R1):c.1185A>G (p.Pro395=) SNV
Germline		 Chr5:68293369 Conflicting classifications of pathogenicity Condition: not provided
Immunodeficiency 36 with lymphoproliferation
SHORT syndrome
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
Immunodeficiency 36 with lymphoproliferation
SHORT syndrome
Agammaglobulinemia 7, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA3290316 rs_770213442

2 SubmittersRCV000659015RCV001502380
NM_181523.3(PIK3R1):c.649G>A (p.Glu217Lys) SNV
Germline		 Chr5:68280542 Conflicting classifications of pathogenicity SHORT syndrome
Agammaglobulinemia 7, autosomal recessive
Immunodeficiency 36 with lymphoproliferation
Agammaglobulinemia 7, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3290118 rs_540361957

3 SubmittersRCV000698771RCV003989585RCV005243342
NM_181523.3(PIK3R1):c.917-1513G>T SNV
Germline		 Chr5:68290746 Conflicting classifications of pathogenicity SHORT syndrome
Immunodeficiency 36 with lymphoproliferation
Agammaglobulinemia 7, autosomal recessive
Condition: not provided
Multiple congenital anomalies/dysmorphic syndrome		 Criteria Provided
Conflicting Classifications
 CA3290219 rs_144312303

5 SubmittersRCV000768046RCV001796779RCV005626201
NM_181523.3(PIK3R1):c.502+1G>C SNV
Germline		 Chr5:68274014 Likely pathogenic SHORT syndrome Criteria Provided
Single Submitter
 CA3290036 rs_773461483

1 SubmittersRCV001192682
NM_181523.3(PIK3R1):c.343C>G (p.Leu115Val) SNV
Germline		 Chr5:68273398 Conflicting classifications of pathogenicity SHORT syndrome
Immunodeficiency 36 with lymphoproliferation
Agammaglobulinemia 7, autosomal recessive
Condition: not provided
Activated PI3K-delta syndrome		 Criteria Provided
Conflicting Classifications
 CA359872525 rs_763574306

3 SubmittersRCV001351892RCV004809571RCV005410931
NM_181523.3(PIK3R1):c.901C>T (p.Arg301Ter) SNV
Germline		 Chr5:68280991 Pathogenic SHORT syndrome
Immunodeficiency 36 with lymphoproliferation
Agammaglobulinemia 7, autosomal recessive
PIK3R1-related disorder
Agammaglobulinemia 7, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3290163 rs_367669362

3 SubmittersRCV001384927RCV003399205RCV005429352
NM_181523.3(PIK3R1):c.428-6T>C SNV
Germline		 Chr5:68273933 Conflicting classifications of pathogenicity SHORT syndrome
Immunodeficiency 36 with lymphoproliferation
Agammaglobulinemia 7, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1553391695 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 with lymphoproliferation
SHORT syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3289968 rs_368742778

3 SubmittersRCV001467141RCV001824968RCV003132500
NM_181523.3(PIK3R1):c.1426-20T>G SNV
Germline		 Chr5:68294516 Conflicting classifications of pathogenicity SHORT syndrome
Immunodeficiency 36 with lymphoproliferation
Agammaglobulinemia 7, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3290408 rs_201254436

2 SubmittersRCV002074053RCV003237667
NM_181523.3(PIK3R1):c.484C>T (p.Arg162Ter) SNV
Germline		 Chr5:68273995 Pathogenic SHORT syndrome
Immunodeficiency 36 with lymphoproliferation
Agammaglobulinemia 7, autosomal recessive		 Criteria Provided
Single Submitter
 CA359873078 rs_1230037871

1 SubmittersRCV001877177
NM_181523.3(PIK3R1):c.450C>G (p.Tyr150Ter) SNV
Germline		 Chr5:68273961 Pathogenic Agammaglobulinemia 7, autosomal recessive
SHORT syndrome
Immunodeficiency 36 with lymphoproliferation		 Criteria Provided
Single Submitter
 CA359872930 rs_1339790364

1 SubmittersRCV001999758
NM_181523.3(PIK3R1):c.916+1G>A SNV
Germline		 Chr5:68281007 Pathogenic SHORT syndrome Criteria Provided
Single Submitter
 CA359876053 rs_2112197421

1 SubmittersRCV002250237
NM_181523.3(PIK3R1):c.502+1G>T SNV
Germline		 Chr5:68274014 Likely pathogenic SHORT syndrome Criteria Provided
Single Submitter
 CA119892054 rs_773461483

1 SubmittersRCV002251137
NM_181523.3(PIK3R1):c.916+2T>C SNV
Germline		 Chr5:68281008 Likely pathogenic SHORT syndrome
Agammaglobulinemia 7, autosomal recessive
Immunodeficiency 36 with lymphoproliferation		 Criteria Provided
Single Submitter
 CA359876060 rs_2530954124

1 SubmittersRCV002863776
NM_181523.3(PIK3R1):c.1946G>A (p.Arg649Gln) SNV
Germline		 Chr5:68296302 Likely pathogenic Immunodeficiency 36 with lymphoproliferation
Agammaglobulinemia 7, autosomal recessive
SHORT syndrome		 Criteria Provided
Single Submitter
 CA359884564 rs_1389187507

1 SubmittersRCV002942435
NM_181523.3(PIK3R1):c.505A>G (p.Thr169Ala) SNV
Germline		 Chr5:68279604 Conflicting classifications of pathogenicity Immunodeficiency 36 with lymphoproliferation
Agammaglobulinemia 7, autosomal recessive
SHORT syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA359873696 rs_1261761196

2 SubmittersRCV003002056RCV005455646
NM_181523.3(PIK3R1):c.1072C>T (p.Arg358Ter) SNV
Germline		 Chr5:68293153 Pathogenic Immunodeficiency 36 with lymphoproliferation
Agammaglobulinemia 7, autosomal recessive
SHORT syndrome		 Criteria Provided
Single Submitter
 CA359879166 rs_2112253467

1 SubmittersRCV003051784
NM_181523.3(PIK3R1):c.1156C>T (p.Arg386Ter) SNV
Germline		 Chr5:68293340 Pathogenic SHORT syndrome
Agammaglobulinemia 7, autosomal recessive
Immunodeficiency 36 with lymphoproliferation		 Criteria Provided
Single Submitter

1 SubmittersRCV005210400
NM_181523.3(PIK3R1):c.836+2T>C SNV
Germline		 Chr5:68280731 Likely pathogenic SHORT syndrome
Agammaglobulinemia 7, autosomal recessive
Immunodeficiency 36 with lymphoproliferation		 Criteria Provided
Single Submitter

1 SubmittersRCV005223962
NM_181523.3(PIK3R1):c.1957A>T (p.Lys653Ter) SNV
Germline		 Chr5:68296313 Pathogenic SHORT syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005235861