Total 32 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 Conflicting classifications of pathogenicity Purine-nucleoside phosphorylase deficiency Criteria Provided
Conflicting Classifications
 CA123669 rs_104894453

4 SubmittersRCV000015025
NM_000270.4(PNP):c.383A>G (p.Asp128Gly) SNV
Germline		 Chr14:20474870 Pathogenic Purine-nucleoside phosphorylase deficiency Criteria Provided
Single Submitter
 CA123673 rs_104894450

2 SubmittersRCV000015027
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.70C>T (p.Arg24Ter) SNV
Germline		 Chr14:20472366 Pathogenic Purine-nucleoside phosphorylase deficiency Criteria Provided
Single Submitter
 CA123682 rs_104894455

2 SubmittersRCV000015032
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

6 SubmittersRCV000015033RCV002221477
NM_000270.4(PNP):c.285+1G>A SNV
Germline		 Chr14:20474576 Pathogenic Purine-nucleoside phosphorylase deficiency No Assertion Criteria Provided
 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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7082090 rs_1026474882

5 SubmittersRCV000606768RCV003479170
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
 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		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1247497521

2 SubmittersRCV000788357RCV000819434
NM_000270.4(PNP):c.181G>T (p.Val61Leu) SNV
Germline		 Chr14:20472477 Likely pathogenic Purine-nucleoside phosphorylase deficiency Criteria Provided
Single Submitter
 rs_1398420394

1 SubmittersRCV001068226
NM_000270.4(PNP):c.645C>T (p.Asp215=) SNV
Germline		 Chr14:20475245 Conflicting classifications of pathogenicity Purine-nucleoside phosphorylase deficiency Criteria Provided
Conflicting Classifications
 rs_369193020

3 SubmittersRCV001114107
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
 rs_867750505

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

2 SubmittersRCV001782663RCV004040808
NM_000270.4(PNP):c.11+2T>A SNV
Germline		 Chr14:20469537 Likely pathogenic Purine-nucleoside phosphorylase deficiency Criteria Provided
Single Submitter
 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		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_754734713

2 SubmittersRCV002034794RCV002034793
NM_000270.4(PNP):c.700C>T (p.Arg234Ter) SNV
Germline		 Chr14:20476431 Pathogenic Purine-nucleoside phosphorylase deficiency Criteria Provided
Single Submitter
 rs_896550845

1 SubmittersRCV001956429
NM_000270.4(PNP):c.286-18G>C SNV
Germline		 Chr14:20474755 Conflicting classifications of pathogenicity Purine-nucleoside phosphorylase deficiency
not specified		 Criteria Provided
Conflicting Classifications
 rs_1026474882

2 SubmittersRCV002132745RCV003331312
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

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

1 SubmittersRCV002588727
NM_000270.4(PNP):c.97T>C (p.Ser33Pro) SNV
Unknown		 Chr14:20472393 Likely pathogenic Purine-nucleoside phosphorylase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003225633
NM_000270.4(PNP):c.569G>T (p.Gly190Val) SNV
Germline		 Chr14:20475169 Likely pathogenic Purine-nucleoside phosphorylase deficiency Criteria Provided
Single Submitter

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

1 SubmittersRCV003990009