PNP — 303 ClinVar variants
All ClinVar germline PNP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 98 flagged for review →
19 Pathogenic · 7 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 8 Conflicting · 25 Benign · 7 Benign/Likely benign · 105 Likely benign · 120 Uncertain significance
Full PNP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 98
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PNP p.Gly4Arg
Conflicting
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Ser33Pro
Conflicting
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Tyr192Cys
Conflicting
Single submitter
purine nucleoside phosphorylase deficiency
Predictors lean, ClinVar uncertain 76
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PNP p.Ala77Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNP p.Arg168Gln
Uncertain significance
Multiple submitters
purine nucleoside phosphorylase deficiency
-
PNP p.Arg185His
Uncertain significance
Multiple submitters
purine nucleoside phosphorylase deficiency
-
PNP p.Arg67Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNP p.Asp157Asn
Uncertain significance
Multiple submitters
purine nucleoside phosphorylase deficiency
-
PNP p.Gln82His
Uncertain significance
Multiple submitters
purine nucleoside phosphorylase deficiency
-
PNP p.Glu186Asp
Uncertain significance
Multiple submitters
purine nucleoside phosphorylase deficiency
-
PNP p.Glu272Gly
Uncertain significance
Multiple submitters
purine nucleoside phosphorylase deficiency
- PNP p.His20Gln Uncertain significance Multiple submitters
-
PNP p.Met170Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNP p.Val112Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNP p.Val126Ala
Uncertain significance
Multiple submitters
purine nucleoside phosphorylase deficiency
-
PNP p.Ala165Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNP p.Ala263Val
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Ala77Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNP p.Arg133Cys
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Arg133His
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Arg154Lys
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Arg158Cys
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Arg158His
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Arg158Pro
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Arg185Cys
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Arg24Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNP p.Arg58Gln
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Arg84Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNP p.Asn115Ser
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
- PNP p.Asn243Lys Uncertain significance Single submitter
-
PNP p.Asn243Ser
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Asn55Ser
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Asn74Lys
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Asp167Asn
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Asp215Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNP p.Asp49Glu
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Gln184Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNP p.Gln188Arg
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Glu183Asp
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
- PNP p.Glu201Gly Uncertain significance Single submitter
-
PNP p.Glu250Lys
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Glu2Gln
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Gly118Ala
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Gly156Arg
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Gly190Asp
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Gly190Ser
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
- PNP p.Gly90Arg Uncertain significance Single submitter
-
PNP p.His135Arg
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.His230Asn
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.His64Asn
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Ile129Thr
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Ile246Val
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Ile282Val
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Ile29Met
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Leu175Val
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Leu17Phe
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Leu212Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNP p.Leu240Phe
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Lys22Asn
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Met247Val
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Met279Arg
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
- PNP p.Met80Lys Uncertain significance Single submitter
-
PNP p.Met81Thr
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Phe155Ser
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Phe159Tyr
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Phe85Leu
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Pro122Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNP p.Pro122Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNP p.Pro146Thr
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Pro99Ser
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
- PNP p.Ser281Gly Uncertain significance Single submitter
-
PNP p.Thr60Ile
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Tyr10Cys
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Tyr5His
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
- PNP p.Val193Glu Uncertain significance Single submitter
-
PNP p.Val195Met
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Val222Leu
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Val27Ile
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Val69Ala
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 19
The independent predictors disagree with each other — read with care.
-
PNP p.Arg207His
Uncertain significance
Multiple submitters
purine nucleoside phosphorylase deficiency
-
PNP p.Arg229Gln
Uncertain significance
Multiple submitters
purine nucleoside phosphorylase deficiency
-
PNP p.Arg234Gln
Uncertain significance
Multiple submitters
purine nucleoside phosphorylase deficiency
-
PNP p.Asn137Ser
Uncertain significance
Multiple submitters
purine nucleoside phosphorylase deficiency
-
PNP p.Val227Ile
Benign/Likely benign
Multiple submitters
purine nucleoside phosphorylase deficiency
-
PNP p.Arg168Trp
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Asn151Ser
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Asp164Gly
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Asp248Gly
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Gly107Ser
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.His20Tyr
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
- PNP p.Leu120Met Uncertain significance Single submitter
-
PNP p.Lys95Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNP p.Met181Ile
Conflicting
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Phe124Leu
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Thr6Pro
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
-
PNP p.Trp94Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PNP p.Tyr249Ser Uncertain significance Single submitter
-
PNP p.Val113Ile
Uncertain significance
Single submitter
purine nucleoside phosphorylase deficiency
All PNP variants
Pathogenic 19
- p.Arg24Ter Multiple submitters purine nucleoside phosphorylase deficiency
- p.Arg58Ter Multiple submitters purine nucleoside phosphorylase deficiency
- p.Arg67Ter Multiple submitters purine nucleoside phosphorylase deficiency
- p.Gln82Ter Multiple submitters purine nucleoside phosphorylase deficiency
- p.Glu89Lys Multiple submitters PNP-related disorder
- p.Arg133fs Single submitter purine nucleoside phosphorylase deficiency
- p.Arg158fs Single submitter purine nucleoside phosphorylase deficiency
- p.Arg171fs Single submitter purine nucleoside phosphorylase deficiency
- p.Arg234Ter Single submitter purine nucleoside phosphorylase deficiency
- p.Asp215fs Single submitter purine nucleoside phosphorylase deficiency
- p.Glu183fs Single submitter purine nucleoside phosphorylase deficiency
- p.Gly190Val Single submitter purine nucleoside phosphorylase deficiency
- p.Gly232Ter Single submitter purine nucleoside phosphorylase deficiency
- p.Ile136fs Single submitter purine nucleoside phosphorylase deficiency
- p.Leu175fs Single submitter purine nucleoside phosphorylase deficiency
- p.Ser251fs Single submitter purine nucleoside phosphorylase deficiency
- p.Trp94Ter Single submitter purine nucleoside phosphorylase deficiency
- c.285+1G>A No assertion criteria purine nucleoside phosphorylase deficiency
- p.Lys244fs No assertion criteria purine nucleoside phosphorylase deficiency
Pathogenic/Likely pathogenic 7
- c.12-1G>C Multiple submitters purine nucleoside phosphorylase deficiency
- c.286-18G>A Multiple submitters severe combined immunodeficiency
- p.Arg234Pro Multiple submitters PNP-related disorder
- p.Asp128Gly Multiple submitters severe combined immunodeficiency
- p.Glu201Ter Multiple submitters severe combined immunodeficiency
- p.His257Asp Multiple submitters severe combined immunodeficiency
- p.Pro146Leu Multiple submitters purine nucleoside phosphorylase deficiency
Likely pathogenic 12
- p.Ala174Pro Multiple submitters severe combined immunodeficiency
- p.Val61Leu Multiple submitters purine nucleoside phosphorylase deficiency
- c.11+2T>A Single submitter purine nucleoside phosphorylase deficiency
- c.182-2A>G Single submitter purine nucleoside phosphorylase deficiency
- p.Ala117Thr Single submitter purine nucleoside phosphorylase deficiency
- p.Ala28Val Single submitter purine nucleoside phosphorylase deficiency
- p.Gln184Ter Single submitter PNP-related disorder
- p.Glu15fs Single submitter purine nucleoside phosphorylase deficiency
- p.Glu183Ter Single submitter PNP-related disorder
- p.Ile129del Single submitter purine nucleoside phosphorylase deficiency
- p.Tyr50_Gly51delinsTer Single submitter purine nucleoside phosphorylase deficiency
- p.Leu111fs No assertion criteria
Conflicting classifications of pathogenicity 8
- c.*15G>A Single submitter purine nucleoside phosphorylase deficiency
- p.Asp215= Single submitter purine nucleoside phosphorylase deficiency
- p.Gly4Arg Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Ile226= Single submitter purine nucleoside phosphorylase deficiency
- p.Ile53= Single submitter purine nucleoside phosphorylase deficiency
- p.Met181Ile Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Ser33Pro Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Tyr192Cys Single submitter purine nucleoside phosphorylase deficiency ⚠
Benign 25
- c.12-18A>T Multiple submitters purine nucleoside phosphorylase deficiency
- c.285+19T>C Multiple submitters purine nucleoside phosphorylase deficiency
- c.-83C>G Multiple submitters purine nucleoside phosphorylase deficiency
- c.-96G>A Multiple submitters purine nucleoside phosphorylase deficiency
- c.*254C>T Multiple submitters purine nucleoside phosphorylase deficiency
- c.*595C>T Multiple submitters purine nucleoside phosphorylase deficiency
- p.His20= Multiple submitters purine nucleoside phosphorylase deficiency
- c.12-10del Single submitter purine nucleoside phosphorylase deficiency
- c.12-3del Single submitter purine nucleoside phosphorylase deficiency
- c.12-9C>A Single submitter purine nucleoside phosphorylase deficiency
- c.461+24_461+25del Single submitter purine nucleoside phosphorylase deficiency
- c.461+25del Single submitter purine nucleoside phosphorylase deficiency
- c.461+25dup Single submitter purine nucleoside phosphorylase deficiency
- c.652+93T>A Single submitter
- c.-91G>T Single submitter purine nucleoside phosphorylase deficiency
- c.*1057T>C Single submitter purine nucleoside phosphorylase deficiency
- c.*1146A>C Single submitter purine nucleoside phosphorylase deficiency
- c.*1198T>C Single submitter purine nucleoside phosphorylase deficiency
- c.*1233T>C Single submitter purine nucleoside phosphorylase deficiency
- c.*1272T>C Single submitter purine nucleoside phosphorylase deficiency
- c.*1342A>T Single submitter purine nucleoside phosphorylase deficiency
- c.*1391T>C Single submitter purine nucleoside phosphorylase deficiency
- c.*728T>C Single submitter purine nucleoside phosphorylase deficiency
- c.*811G>A Single submitter purine nucleoside phosphorylase deficiency
- c.*816C>T Single submitter purine nucleoside phosphorylase deficiency
Benign/Likely benign 7
- c.285+10A>G Multiple submitters purine nucleoside phosphorylase deficiency
- c.461+16C>T Multiple submitters purine nucleoside phosphorylase deficiency
- c.653-4T>C Multiple submitters purine nucleoside phosphorylase deficiency
- p.Gly51Ser Multiple submitters purine nucleoside phosphorylase deficiency
- p.Pro57= Multiple submitters purine nucleoside phosphorylase deficiency
- p.Val217Ile Multiple submitters purine nucleoside phosphorylase deficiency
- p.Val227Ile Multiple submitters purine nucleoside phosphorylase deficiency ⚠
Likely benign 105
- c.286-18G>C Multiple submitters purine nucleoside phosphorylase deficiency
- p.Arg234= Multiple submitters purine nucleoside phosphorylase deficiency
- p.Leu131= Multiple submitters purine nucleoside phosphorylase deficiency
- p.Leu93= Multiple submitters purine nucleoside phosphorylase deficiency
- p.Tyr166= Multiple submitters purine nucleoside phosphorylase deficiency
- c.11+11C>T Single submitter purine nucleoside phosphorylase deficiency
- c.11+13C>A Single submitter purine nucleoside phosphorylase deficiency
- c.11+15A>G Single submitter purine nucleoside phosphorylase deficiency
- c.11+17_11+25del Single submitter purine nucleoside phosphorylase deficiency
- c.11+17G>A Single submitter purine nucleoside phosphorylase deficiency
- c.11+18C>T Single submitter purine nucleoside phosphorylase deficiency
- c.11+19C>A Single submitter purine nucleoside phosphorylase deficiency
- c.11+20C>G Single submitter purine nucleoside phosphorylase deficiency
- c.11+8G>C Single submitter purine nucleoside phosphorylase deficiency
- c.12-16A>G Single submitter purine nucleoside phosphorylase deficiency
- c.12-6C>T Single submitter purine nucleoside phosphorylase deficiency
- c.12-8T>A Single submitter purine nucleoside phosphorylase deficiency
- c.181+16A>T Single submitter purine nucleoside phosphorylase deficiency
- c.181+17G>A Single submitter purine nucleoside phosphorylase deficiency
- c.181+8C>G Single submitter purine nucleoside phosphorylase deficiency
- c.182-10T>G Single submitter purine nucleoside phosphorylase deficiency
- c.182-17_182-14del Single submitter purine nucleoside phosphorylase deficiency
- c.182-19C>T Single submitter purine nucleoside phosphorylase deficiency
- c.182-6A>G Single submitter purine nucleoside phosphorylase deficiency
- c.285+12G>T Single submitter purine nucleoside phosphorylase deficiency
- c.285+15T>C Single submitter purine nucleoside phosphorylase deficiency
- c.285+18G>A Single submitter purine nucleoside phosphorylase deficiency
- c.285+21del Single submitter purine nucleoside phosphorylase deficiency
- c.285+8A>G Single submitter purine nucleoside phosphorylase deficiency
- c.285+8del Single submitter purine nucleoside phosphorylase deficiency
- c.286-13G>A Single submitter purine nucleoside phosphorylase deficiency
- c.286-15T>C Single submitter purine nucleoside phosphorylase deficiency
- c.286-16_286-13del Single submitter purine nucleoside phosphorylase deficiency
- c.286-19C>T Single submitter purine nucleoside phosphorylase deficiency
- c.286-4G>A Single submitter purine nucleoside phosphorylase deficiency
- c.286-4G>C Single submitter purine nucleoside phosphorylase deficiency
- c.286-5C>T Single submitter purine nucleoside phosphorylase deficiency
- c.286-8C>T Single submitter purine nucleoside phosphorylase deficiency
- c.461+10T>A Single submitter
- c.461+10T>G Single submitter purine nucleoside phosphorylase deficiency
- c.461+13C>A Single submitter purine nucleoside phosphorylase deficiency
- c.461+17del Single submitter purine nucleoside phosphorylase deficiency
- c.461+17G>A Single submitter purine nucleoside phosphorylase deficiency
- c.461+18T>C Single submitter purine nucleoside phosphorylase deficiency
- c.461+18T>G Single submitter purine nucleoside phosphorylase deficiency
- c.461+9G>C Single submitter purine nucleoside phosphorylase deficiency
- c.462-4C>T Single submitter purine nucleoside phosphorylase deficiency
- c.462-5C>T Single submitter purine nucleoside phosphorylase deficiency
- c.462-9G>A Single submitter purine nucleoside phosphorylase deficiency
- c.462-9G>C Single submitter purine nucleoside phosphorylase deficiency
- c.652+10G>C Single submitter purine nucleoside phosphorylase deficiency
- c.652+19C>T Single submitter purine nucleoside phosphorylase deficiency
- c.652+9G>A Single submitter purine nucleoside phosphorylase deficiency
- c.653-13T>C Single submitter
- c.653-15C>G Single submitter purine nucleoside phosphorylase deficiency
- c.653-5A>C Single submitter purine nucleoside phosphorylase deficiency
- c.653-8A>G Single submitter purine nucleoside phosphorylase deficiency
- c.*178C>T Single submitter purine nucleoside phosphorylase deficiency
- c.*213C>G Single submitter purine nucleoside phosphorylase deficiency
- c.*799A>G Single submitter purine nucleoside phosphorylase deficiency
- c.*839T>C Single submitter purine nucleoside phosphorylase deficiency
- c.*944G>A Single submitter purine nucleoside phosphorylase deficiency
- p.Ala228= Single submitter purine nucleoside phosphorylase deficiency
- p.Ala267= Single submitter purine nucleoside phosphorylase deficiency
- p.Ala77= Single submitter purine nucleoside phosphorylase deficiency
- p.Arg67= Single submitter purine nucleoside phosphorylase deficiency
- p.Asn12= Single submitter purine nucleoside phosphorylase deficiency
- p.Asn145= Single submitter purine nucleoside phosphorylase deficiency
- p.Asn151= Single submitter purine nucleoside phosphorylase deficiency
- p.Asn243= Single submitter purine nucleoside phosphorylase deficiency
- p.Gln188= Single submitter purine nucleoside phosphorylase deficiency
- p.Gln26= Single submitter purine nucleoside phosphorylase deficiency
- p.Gln273= Single submitter purine nucleoside phosphorylase deficiency
- p.Gly140= Single submitter purine nucleoside phosphorylase deficiency
- p.Gly213= Single submitter purine nucleoside phosphorylase deficiency
- p.Gly51= Single submitter purine nucleoside phosphorylase deficiency
- p.His104= Single submitter purine nucleoside phosphorylase deficiency
- p.His135= Single submitter purine nucleoside phosphorylase deficiency
- p.Ile132= Single submitter purine nucleoside phosphorylase deficiency
- p.Leu105= Single submitter purine nucleoside phosphorylase deficiency
- p.Leu106= Single submitter purine nucleoside phosphorylase deficiency
- p.Leu138= Single submitter purine nucleoside phosphorylase deficiency
- p.Leu18= Single submitter purine nucleoside phosphorylase deficiency
- p.Leu212= Single submitter purine nucleoside phosphorylase deficiency
- p.Leu233= Single submitter purine nucleoside phosphorylase deficiency
- p.Leu240= Single submitter purine nucleoside phosphorylase deficiency
- p.Leu252= Single submitter purine nucleoside phosphorylase deficiency
- p.Leu278= Single submitter purine nucleoside phosphorylase deficiency
- p.Leu68= Single submitter
- p.Lys254= Single submitter purine nucleoside phosphorylase deficiency
- p.Lys265Arg Single submitter
- p.Phe85= Single submitter purine nucleoside phosphorylase deficiency
- p.Ser199= Single submitter
- p.Ser251= Single submitter purine nucleoside phosphorylase deficiency
- p.Thr177= Single submitter purine nucleoside phosphorylase deficiency
- p.Thr221= Single submitter purine nucleoside phosphorylase deficiency
- p.Tyr5= Single submitter purine nucleoside phosphorylase deficiency
- p.Tyr50= Single submitter purine nucleoside phosphorylase deficiency
- p.Tyr88= Single submitter purine nucleoside phosphorylase deficiency
- p.Val235= Single submitter purine nucleoside phosphorylase deficiency
- p.Val260= Single submitter purine nucleoside phosphorylase deficiency
- p.Val27= Single submitter purine nucleoside phosphorylase deficiency
- p.Val275= Single submitter purine nucleoside phosphorylase deficiency
- p.Val69= Single submitter purine nucleoside phosphorylase deficiency
- p.Val96= Single submitter purine nucleoside phosphorylase deficiency
Uncertain significance 120
- c.11+5G>T Multiple submitters purine nucleoside phosphorylase deficiency
- p.Ala77Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg168Gln Multiple submitters purine nucleoside phosphorylase deficiency ⚠
- p.Arg185His Multiple submitters purine nucleoside phosphorylase deficiency ⚠
- p.Arg185Ser Multiple submitters purine nucleoside phosphorylase deficiency
- p.Arg207His Multiple submitters purine nucleoside phosphorylase deficiency ⚠
- p.Arg229Gln Multiple submitters purine nucleoside phosphorylase deficiency ⚠
- p.Arg229Trp Multiple submitters purine nucleoside phosphorylase deficiency
- p.Arg234Gln Multiple submitters purine nucleoside phosphorylase deficiency ⚠
- p.Arg67Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn137Ser Multiple submitters purine nucleoside phosphorylase deficiency ⚠
- p.Asp157Asn Multiple submitters purine nucleoside phosphorylase deficiency ⚠
- p.Gln82His Multiple submitters purine nucleoside phosphorylase deficiency ⚠
- p.Glu186Asp Multiple submitters purine nucleoside phosphorylase deficiency ⚠
- p.Glu272Gly Multiple submitters purine nucleoside phosphorylase deficiency ⚠
- p.His20Gln Multiple submitters ⚠
- p.Met170Val Multiple submitters Inborn genetic diseases ⚠
- p.Thr60= Multiple submitters purine nucleoside phosphorylase deficiency
- p.Val112Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val126Ala Multiple submitters purine nucleoside phosphorylase deficiency ⚠
- c.11+3G>A Single submitter purine nucleoside phosphorylase deficiency
- c.12-7C>A Single submitter purine nucleoside phosphorylase deficiency
- c.461+3A>G Single submitter purine nucleoside phosphorylase deficiency
- c.652+5G>A Single submitter purine nucleoside phosphorylase deficiency
- c.652+9_652+25del Single submitter purine nucleoside phosphorylase deficiency
- c.653-9C>T Single submitter purine nucleoside phosphorylase deficiency
- c.-129C>A Single submitter purine nucleoside phosphorylase deficiency
- c.-150G>A Single submitter purine nucleoside phosphorylase deficiency
- c.*1386C>T Single submitter purine nucleoside phosphorylase deficiency
- c.*316C>T Single submitter purine nucleoside phosphorylase deficiency
- c.*317G>A Single submitter purine nucleoside phosphorylase deficiency
- c.*372G>A Single submitter purine nucleoside phosphorylase deficiency
- c.*372G>C Single submitter purine nucleoside phosphorylase deficiency
- c.*483A>C Single submitter purine nucleoside phosphorylase deficiency
- c.*560G>A Single submitter purine nucleoside phosphorylase deficiency
- c.*750T>A Single submitter purine nucleoside phosphorylase deficiency
- c.*78T>C Single submitter purine nucleoside phosphorylase deficiency
- c.*828T>C Single submitter purine nucleoside phosphorylase deficiency
- p.Ala161Val Single submitter purine nucleoside phosphorylase deficiency
- p.Ala165Asp Single submitter Inborn genetic diseases ⚠
- p.Ala263Val Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Ala77Thr Single submitter Inborn genetic diseases ⚠
- p.Arg133Cys Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Arg133His Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Arg154Lys Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Arg158Cys Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Arg158His Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Arg158Pro Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Arg168Trp Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Arg185Cys Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Arg24Gln Single submitter Inborn genetic diseases ⚠
- p.Arg58Gln Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Arg84Met Single submitter Inborn genetic diseases ⚠
- p.Asn115Ser Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Asn151Ser Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Asn243Lys Single submitter ⚠
- p.Asn243Ser Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Asn55Ser Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Asn74Lys Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Asp164Gly Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Asp167Asn Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Asp215Ala Single submitter Inborn genetic diseases ⚠
- p.Asp248Gly Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Asp49Glu Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Gln184Arg Single submitter Inborn genetic diseases ⚠
- p.Gln188Arg Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Glu183Asp Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Glu201Gly Single submitter ⚠
- p.Glu250Lys Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Glu2Gln Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Gly107Ser Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Gly118Ala Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Gly156Arg Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Gly190Asp Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Gly190Ser Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Gly90Arg Single submitter ⚠
- p.His135Arg Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.His20Tyr Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.His230Asn Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.His64Asn Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Ile129Thr Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Ile246Val Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Ile282Val Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Ile29Met Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Leu120Met Single submitter ⚠
- p.Leu175Val Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Leu17Phe Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Leu212Pro Single submitter Inborn genetic diseases ⚠
- p.Leu240Phe Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Lys22Asn Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Lys95Glu Single submitter Inborn genetic diseases ⚠
- p.Met247Val Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Met279Arg Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Met80Lys Single submitter ⚠
- p.Met81Thr Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Met87Lys Single submitter purine nucleoside phosphorylase deficiency
- p.Phe124Leu Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Phe155Ser Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Phe159Tyr Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Phe85Leu Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Pro122Ser Single submitter Inborn genetic diseases ⚠
- p.Pro122Thr Single submitter Inborn genetic diseases ⚠
- p.Pro146Thr Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Pro99Ser Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Ser281Gly Single submitter ⚠
- p.Thr60Ile Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Thr6Pro Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Trp94Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr10Cys Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Tyr249Ser Single submitter ⚠
- p.Tyr5His Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Val113Ile Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Val193Glu Single submitter ⚠
- p.Val195Ala Single submitter purine nucleoside phosphorylase deficiency
- p.Val195Met Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Val217= Single submitter purine nucleoside phosphorylase deficiency
- p.Val222Leu Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Val27Ile Single submitter purine nucleoside phosphorylase deficiency ⚠
- p.Val69Ala Single submitter Inborn genetic diseases ⚠
- p.Val69Leu Single submitter