Total 42 pathogenic variants reported for Purine-nucleoside phosphorylase deficiency 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000270.4(PNP):c.265G>A (p.Glu89Lys) SNV
Germline		 Chr14:20474555 Pathogenic Purine-nucleoside phosphorylase deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123669 rs_104894453

5 SubmittersRCV000015025RCV005237380
NM_000270.4(PNP):c.520G>C (p.Ala174Pro) SNV
Germline		 Chr14:20475120 Likely pathogenic Purine-nucleoside phosphorylase deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123671 rs_104894454

4 SubmittersRCV000015026RCV004700237
NM_000270.4(PNP):c.383A>G (p.Asp128Gly) SNV
Germline		 Chr14:20474870 Pathogenic/Likely pathogenic Purine-nucleoside phosphorylase deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123673 rs_104894450

3 SubmittersRCV000015027RCV006263627
NM_000270.4(PNP):c.701G>C (p.Arg234Pro) SNV
Germline		 Chr14:20476432 Pathogenic/Likely pathogenic Purine-nucleoside phosphorylase deficiency
Condition: not provided
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123675 rs_104894451

6 SubmittersRCV000015028RCV000419921RCV002298444
NM_000270.4(PNP):c.575A>G (p.Tyr192Cys) SNV
Germline		 Chr14:20475175 Conflicting classifications of pathogenicity Purine-nucleoside phosphorylase deficiency
not specified		 Criteria Provided
Conflicting Classifications
 CA123680 rs_104894452

3 SubmittersRCV000015030RCV003330390
NM_000270.4(PNP):c.70C>T (p.Arg24Ter) SNV
Germline		 Chr14:20472366 Pathogenic Purine-nucleoside phosphorylase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123682 rs_104894455

3 SubmittersRCV000015032RCV005430931
NM_000270.4(PNP):c.172C>T (p.Arg58Ter) SNV
Germline		 Chr14:20472468 Pathogenic Purine-nucleoside phosphorylase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123685 rs_104894460

7 SubmittersRCV000015033RCV002221477
NM_000270.4(PNP):c.285+1G>A SNV
Germline		 Chr14:20474576 Pathogenic Purine-nucleoside phosphorylase deficiency No Assertion Criteria Provided
 CA389145062 rs_1566525400

1 SubmittersRCV000015034
NM_000270.4(PNP):c.678C>T (p.Ile226=) SNV
Germline		 Chr14:20476409 Conflicting classifications of pathogenicity Purine-nucleoside phosphorylase deficiency Criteria Provided
Conflicting Classifications
 CA7082207 rs_563086985

2 SubmittersRCV000289959
NM_000270.4(PNP):c.159C>A (p.Ile53=) SNV
Germline		 Chr14:20472455 Conflicting classifications of pathogenicity Purine-nucleoside phosphorylase deficiency Criteria Provided
Conflicting Classifications
 CA10644963 rs_367991537

2 SubmittersRCV000356988
NM_000270.4(PNP):c.286-18G>A SNV
Germline		 Chr14:20474755 Pathogenic/Likely pathogenic Purine-nucleoside phosphorylase deficiency
Severe combined immunodeficiency disease
Acute myeloid leukemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7082090 rs_1026474882

6 SubmittersRCV000606768RCV003479170RCV005898769
NM_000270.4(PNP):c.437C>T (p.Pro146Leu) SNV
Germline		 Chr14:20474924 Pathogenic/Likely pathogenic Condition: not provided
Purine-nucleoside phosphorylase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA389145393 rs_1594427504

3 SubmittersRCV000788367RCV001824147
NM_000270.4(PNP):c.769C>G (p.His257Asp) SNV
Germline		 Chr14:20476500 Pathogenic/Likely pathogenic Condition: not provided
Purine-nucleoside phosphorylase deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA389146119 rs_1247497521

3 SubmittersRCV000788357RCV000819434RCV005438032
NM_000270.4(PNP):c.181G>T (p.Val61Leu) SNV
Germline		 Chr14:20472477 Likely pathogenic Purine-nucleoside phosphorylase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA389144821 rs_1398420394

2 SubmittersRCV001068226
NM_000270.4(PNP):c.645C>T (p.Asp215=) SNV
Germline		 Chr14:20475245 Conflicting classifications of pathogenicity Purine-nucleoside phosphorylase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7082181 rs_369193020

5 SubmittersRCV001114107RCV005243470
NM_000270.4(PNP):c.*15G>A SNV
Germline		 Chr14:20476616 Conflicting classifications of pathogenicity Purine-nucleoside phosphorylase deficiency
not specified		 Criteria Provided
Conflicting Classifications
 CA7082232 rs_201497504

2 SubmittersRCV001110075RCV004689993
NM_000270.4(PNP):c.244C>T (p.Gln82Ter) SNV
Germline		 Chr14:20474534 Pathogenic Purine-nucleoside phosphorylase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA389144963 rs_867750505

2 SubmittersRCV001389833RCV001532738
NM_000270.4(PNP):c.12-1G>C SNV
Germline		 Chr14:20472307 Pathogenic/Likely pathogenic Purine-nucleoside phosphorylase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA389143937 rs_2139335095

2 SubmittersRCV001782663
NM_000270.4(PNP):c.11+2T>A SNV
Germline		 Chr14:20469537 Likely pathogenic Purine-nucleoside phosphorylase deficiency Criteria Provided
Single Submitter
 CA389141735 rs_2139331878

1 SubmittersRCV003631079
NM_000270.4(PNP):c.199C>T (p.Arg67Ter) SNV
Germline		 Chr14:20474489 Pathogenic Purine-nucleoside phosphorylase deficiency
Condition: not provided
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA389144867 rs_754734713

5 SubmittersRCV002034794RCV002034793RCV005238007
NM_000270.4(PNP):c.700C>T (p.Arg234Ter) SNV
Germline		 Chr14:20476431 Pathogenic Purine-nucleoside phosphorylase deficiency Criteria Provided
Single Submitter
 CA257418803 rs_896550845

1 SubmittersRCV001956429
NM_000270.4(PNP):c.601G>T (p.Glu201Ter) SNV
Germline		 Chr14:20475201 Pathogenic/Likely pathogenic Severe combined immunodeficiency disease
Purine-nucleoside phosphorylase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257418300 rs_922257453

2 SubmittersRCV002469964RCV003775503
NM_000270.4(PNP):c.182-2A>G SNV
Germline		 Chr14:20474470 Likely pathogenic Purine-nucleoside phosphorylase deficiency Criteria Provided
Single Submitter
 CA389144828 rs_1882052778

1 SubmittersRCV002588727
NM_000270.4(PNP):c.97T>C (p.Ser33Pro) SNV
Germline		 Chr14:20472393 Conflicting classifications of pathogenicity Purine-nucleoside phosphorylase deficiency
not specified		 Criteria Provided
Conflicting Classifications
 CA389144440 rs_2501830093

2 SubmittersRCV003225633RCV005240729
NM_000270.4(PNP):c.569G>T (p.Gly190Val) SNV
Germline		 Chr14:20475169 Pathogenic Purine-nucleoside phosphorylase deficiency Criteria Provided
Single Submitter
 CA389145686 rs_772212348

1 SubmittersRCV003516361
NM_000270.4(PNP):c.83C>T (p.Ala28Val) SNV
Germline		 Chr14:20472379 Likely pathogenic Purine-nucleoside phosphorylase deficiency Criteria Provided
Single Submitter
 CA389144363 rs_2501830039

1 SubmittersRCV003990009
NM_000270.4(PNP):c.349G>A (p.Ala117Thr) SNV
Germline		 Chr14:20474836 Likely pathogenic Purine-nucleoside phosphorylase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005631409
NM_000270.4(PNP):c.694G>T (p.Gly232Ter) SNV
Germline		 Chr14:20476425 Pathogenic Purine-nucleoside phosphorylase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006495077
NM_000270.4(PNP):c.281G>A (p.Trp94Ter) SNV
Germline		 Chr14:20474571 Pathogenic Purine-nucleoside phosphorylase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006515498