HPRT1 — 268 ClinVar variants
All ClinVar germline HPRT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →
64 Pathogenic · 1 Pathogenic/Likely pathogenic · 34 Likely pathogenic · 4 Conflicting · 18 Benign · 4 Benign/Likely benign · 77 Likely benign · 66 Uncertain significance
Full HPRT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 56
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 vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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HPRT1 p.Ala161Ser
Likely pathogenic
Single submitter
Lesch-Nyhan syndrome
-
HPRT1 p.Ala161Thr
Likely pathogenic
Single submitter
Lesch-Nyhan syndrome
Predictors lean, ClinVar uncertain 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
HPRT1 p.Gln144Arg
Uncertain significance
Multiple submitters
hypoxanthine guanine phosphoribosyltransferase partial deficiency
-
HPRT1 p.Phe187Val
Uncertain significance
Multiple submitters
Nephrolithiasis/nephrocalcinosis
-
HPRT1 p.Ser162Ile
Uncertain significance
Multiple submitters
hypoxanthine guanine phosphoribosyltransferase partial deficiency
-
HPRT1 p.Thr124Ala
Uncertain significance
Multiple submitters
hypoxanthine guanine phosphoribosyltransferase partial deficiency
-
HPRT1 p.Val8Ile
Uncertain significance
Multiple submitters
hypoxanthine guanine phosphoribosyltransferase partial deficiency
-
HPRT1 p.Ala218Gly
Uncertain significance
Single submitter
Lesch-Nyhan syndrome
-
HPRT1 p.Ala2Ser
Uncertain significance
Single submitter
Lesch-Nyhan syndrome
-
HPRT1 p.Arg151Ser
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
HPRT1 p.Arg200Lys
Uncertain significance
Single submitter
hypoxanthine guanine phosphoribosyltransferase partial deficiency
-
HPRT1 p.Arg91Ser
Uncertain significance
Single submitter
Lesch-Nyhan syndrome
-
HPRT1 p.Asn196Ser
Uncertain significance
Single submitter
Lesch-Nyhan syndrome
-
HPRT1 p.Asn26Ser
Uncertain significance
Single submitter
hypoxanthine guanine phosphoribosyltransferase partial deficiency
- HPRT1 p.Asp113Tyr Uncertain significance Single submitter
- HPRT1 p.Asp12Gly Uncertain significance Single submitter
-
HPRT1 p.Asp12Tyr
Uncertain significance
Single submitter
hypoxanthine guanine phosphoribosyltransferase partial deficiency
-
HPRT1 p.Asp138Asn
Uncertain significance
Single submitter
Lesch-Nyhan syndrome
-
HPRT1 p.Asp52Gly
Uncertain significance
Single submitter
Lesch-Nyhan syndrome
- HPRT1 p.Asp52Tyr Uncertain significance Single submitter
- HPRT1 p.Asp80Glu Uncertain significance Single submitter
- HPRT1 p.Cys206Tyr Uncertain significance Single submitter
-
HPRT1 p.Cys66Phe
Uncertain significance
Single submitter
Lesch-Nyhan syndrome
-
HPRT1 p.Glu197Lys
Uncertain significance
Single submitter
Lesch-Nyhan syndrome
-
HPRT1 p.Glu47Gln
Uncertain significance
Single submitter
hypoxanthine guanine phosphoribosyltransferase partial deficiency
-
HPRT1 p.Gly140Asp
Uncertain significance
Single submitter
Lesch-Nyhan syndrome
-
HPRT1 p.Gly140Cys
Uncertain significance
Single submitter
hypoxanthine guanine phosphoribosyltransferase partial deficiency
-
HPRT1 p.Gly190Glu
Uncertain significance
Single submitter
hypoxanthine guanine phosphoribosyltransferase partial deficiency
-
HPRT1 p.Ile117Thr
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
HPRT1 p.Ile24Leu
Uncertain significance
Single submitter
Lesch-Nyhan syndrome
-
HPRT1 p.Ile37Phe
Uncertain significance
Single submitter
hypoxanthine guanine phosphoribosyltransferase partial deficiency
-
HPRT1 p.Ile62Val
Uncertain significance
Single submitter
hypoxanthine guanine phosphoribosyltransferase partial deficiency
- HPRT1 p.Leu122Phe Uncertain significance Single submitter
- HPRT1 p.Leu193Phe Uncertain significance Single submitter
- HPRT1 p.Lys166Glu Uncertain significance Single submitter
-
HPRT1 p.Met54Thr
Uncertain significance
Single submitter
hypoxanthine guanine phosphoribosyltransferase partial deficiency
- HPRT1 p.Pro25Arg Uncertain significance Single submitter
-
HPRT1 p.Pro25Ser
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
HPRT1 p.Ser162Asn
Uncertain significance
Single submitter
Lesch-Nyhan syndrome
-
HPRT1 p.Ser209Arg
Uncertain significance
Single submitter
hypoxanthine guanine phosphoribosyltransferase partial deficiency
- HPRT1 p.Thr126Ala Uncertain significance Single submitter
- HPRT1 p.Tyr174Cys Uncertain significance Single submitter
- HPRT1 p.Val189Gly Uncertain significance Single submitter
-
HPRT1 p.Val53Met
Uncertain significance
Single submitter
hypoxanthine guanine phosphoribosyltransferase partial deficiency
-
HPRT1 p.Cys206Phe
Uncertain significance
No assertion criteria
HPRT1-related disorder
Predictors split 11
The independent predictors disagree with each other — read with care.
-
HPRT1 p.Asn26Thr
Uncertain significance
Multiple submitters
Lesch-Nyhan syndrome
-
HPRT1 p.Gln109Lys
Uncertain significance
Multiple submitters
History of neurodevelopmental disorder
-
HPRT1 p.Pro169Ala
Benign/Likely benign
Multiple submitters
hypoxanthine guanine phosphoribosyltransferase partial deficiency
-
HPRT1 p.Val179Ala
Uncertain significance
Multiple submitters
Lesch-Nyhan syndrome
- HPRT1 p.Arg34Gly Uncertain significance Single submitter
-
HPRT1 p.Asp18Gly
Uncertain significance
Single submitter
hypoxanthine guanine phosphoribosyltransferase partial deficiency
- HPRT1 p.Gln152His Uncertain significance Single submitter
-
HPRT1 p.Gly119Arg
Uncertain significance
Single submitter
hypoxanthine guanine phosphoribosyltransferase partial deficiency
-
HPRT1 p.His60Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- HPRT1 p.Ser92Pro Uncertain significance Single submitter
-
HPRT1 p.Thr168Ile
Pathogenic
No assertion criteria
hypoxanthine guanine phosphoribosyltransferase partial deficiency
All HPRT1 variants
Pathogenic 64
- c.384+1G>A Multiple submitters Lesch-Nyhan syndrome
- c.486-1G>A Multiple submitters Lesch-Nyhan syndrome
- c.532+1G>A Multiple submitters HPRT1-related disorder
- p.Arg48His Multiple submitters HPRT1-related disorder
- p.Arg51Ter Multiple submitters Lesch-Nyhan syndrome
- p.Gln109Ter Multiple submitters Lesch-Nyhan syndrome
- p.Tyr72fs Multiple submitters Lesch-Nyhan syndrome
- p.Val97fs Multiple submitters hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.28-2A>T Single submitter HPRT1-related disorder
- c.319-2A>G Single submitter Lesch-Nyhan syndrome
- c.385-2A>G Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.486-2A>G Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.486-3C>G Single submitter Lesch-Nyhan syndrome
- c.532+2T>G Single submitter
- c.533-1G>A Single submitter
- c.609+1G>A Single submitter
- c.610-1G>A Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.-147_384del Single submitter Lesch-Nyhan syndrome
- p.Ala64Asp Single submitter Lesch-Nyhan syndrome
- p.Arg4fs Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Asp113fs Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Asp135Tyr Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Asp194Glu Single submitter HPRT1-related disorder
- p.Asp194His Single submitter
- p.Asp20Val Single submitter HPRT1-related disorder
- p.Gln144Ter Single submitter Lesch-Nyhan syndrome
- p.Gln152Ter Single submitter
- p.Glu14fs Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Gly16Val Single submitter Lesch-Nyhan syndrome
- p.Gly190Ter Single submitter Lesch-Nyhan syndrome
- p.Gly40Ter Single submitter Lesch-Nyhan syndrome
- p.Gly70Arg Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Gly70Glu Single submitter Lesch-Nyhan syndrome
- p.Gly71fs Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Gly71Val Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.His204Leu Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Ile42fs Single submitter Lesch-Nyhan syndrome
- p.Leu49Phe Single submitter
- p.Leu68fs Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Leu68Phe Single submitter
- p.Leu68Pro Single submitter
- p.Leu78Pro Single submitter Lesch-Nyhan syndrome
- p.Lys186fs Single submitter Lesch-Nyhan syndrome
- p.Lys215fs Single submitter
- p.Met1Val Single submitter Lesch-Nyhan syndrome
- p.Phe74Cys Single submitter Lesch-Nyhan syndrome
- p.Ser89fs Single submitter
- p.Val130Asp Single submitter Lesch-Nyhan syndrome
- p.Val158fs Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Val188_Val189insTer Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.317_318del No assertion criteria Lesch-Nyhan syndrome
- c.532+5G>A No assertion criteria Lesch-Nyhan syndrome
- c.610-4_610-2delinsTTT No assertion criteria Lesch-Nyhan syndrome
- p.Arg45Lys No assertion criteria Lesch-Nyhan syndrome
- p.Asp177Tyr No assertion criteria Lesch-Nyhan syndrome
- p.Asp194Asn No assertion criteria Lesch-Nyhan syndrome
- p.Gly180Glu No assertion criteria Lesch-Nyhan syndrome
- p.Leu65Phe No assertion criteria hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Met143Lys No assertion criteria Lesch-Nyhan syndrome
- p.Met43fs No assertion criteria Lesch-Nyhan syndrome
- p.Met54fs No assertion criteria Lesch-Nyhan syndrome
- p.Pro176Leu No assertion criteria Lesch-Nyhan syndrome
- p.Thr168Ile No assertion criteria hypoxanthine guanine phosphoribosyltransferase partial deficiency ⚠
- p.Val130_Leu131insTer No assertion criteria Lesch-Nyhan syndrome
Pathogenic/Likely pathogenic 1
- p.Arg170Ter Multiple submitters HPRT1-related disorder
Likely pathogenic 34
- c.532+1_532+2del Multiple submitters hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.134+1G>C Single submitter Lesch-Nyhan syndrome
- c.27+174G>T Single submitter Lesch-Nyhan syndrome
- c.384+1G>T Single submitter Lesch-Nyhan syndrome
- c.402+1229A>G Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.609+5G>A Single submitter Lesch-Nyhan syndrome
- p.Ala161Ser Single submitter Lesch-Nyhan syndrome ⚠
- p.Ala161Thr Single submitter Lesch-Nyhan syndrome ⚠
- p.Ala50Pro Single submitter Nephrolithiasis/nephrocalcinosis
- p.Arg167Met Single submitter
- p.Arg200fs Single submitter Lesch-Nyhan syndrome
- p.Asp194Tyr Single submitter Lesch-Nyhan syndrome
- p.Asp44Gly Single submitter HPRT1-related disorder
- p.Asp80Gly Single submitter Lesch-Nyhan syndrome
- p.Asp80Tyr Single submitter Lesch-Nyhan syndrome
- p.Asp80Val Single submitter Lesch-Nyhan syndrome
- p.Glu47Val Single submitter Nephrolithiasis/nephrocalcinosis
- p.Gly16Ala Single submitter Lesch-Nyhan syndrome
- p.Gly71Arg Single submitter Lesch-Nyhan syndrome
- p.His204Asp Single submitter Lesch-Nyhan syndrome
- p.His204fs Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.His204Tyr Single submitter Lesch-Nyhan syndrome
- p.Leu147Pro Single submitter
- p.Leu41fs Single submitter HPRT1-related disorder
- p.Pro38Ala Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Pro38Leu Single submitter HPRT1-related disorder
- p.Ser110Leu Single submitter Lesch-Nyhan syndrome
- p.Ser162Arg Single submitter Lesch-Nyhan syndrome
- p.Thr139Asn Single submitter Lesch-Nyhan syndrome
- p.Tyr17Cys Single submitter HPRT1-related disorder
- p.Val189Ala Single submitter
- p.Val207fs Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.28-2A>G No assertion criteria Lesch-Nyhan syndrome
- p.Ser123Ter No assertion criteria Lesch-Nyhan spectrum
Conflicting classifications of pathogenicity 4
- c.134+18A>G Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.134+6_134+9del Single submitter Nephrolithiasis/nephrocalcinosis
- c.384+9C>T Single submitter Lesch-Nyhan syndrome
- p.Glu182= Single submitter HPRT1-related disorder
Benign 18
- c.319-7del Multiple submitters
- c.319-7dup Multiple submitters Lesch-Nyhan syndrome
- p.Val160= Multiple submitters Nephrolithiasis/nephrocalcinosis
- c.135-101= Single submitter
- c.28-14del Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.384+304dup Single submitter
- c.402+297TA[6] Single submitter
- c.403-12C>A Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.485+291A>G Single submitter
- c.486-12dup Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.609+20T>C Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.610-221A>C Single submitter
- c.610-5del Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.610-5dup Single submitter Lesch-Nyhan syndrome
- c.610-6_610-5del Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Arg170= Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Asp77= Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Tyr174= Single submitter Lesch-Nyhan syndrome
Benign/Likely benign 4
- c.384+19A>G Multiple submitters Lesch-Nyhan syndrome
- c.486-11G>A Multiple submitters hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Gly140= Multiple submitters hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Pro169Ala Multiple submitters hypoxanthine guanine phosphoribosyltransferase partial deficiency ⚠
Likely benign 77
- c.319-17T>G Multiple submitters hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.319-18T>G Multiple submitters Lesch-Nyhan syndrome
- c.319-8_319-7dup Multiple submitters hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.532+45C>A Multiple submitters
- p.Ile208= Multiple submitters hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Thr168= Multiple submitters Lesch-Nyhan syndrome
- c.134+12C>G Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.135-121dup Single submitter
- c.135-6C>T Single submitter Lesch-Nyhan syndrome
- c.27+19C>G Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.27+55G>A Single submitter
- c.27+7A>G Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.28-13A>G Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.28-15A>G Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.28-19A>G Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.28-208A>G Single submitter
- c.318+18A>C Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.318+3362C>T Single submitter
- c.318+7A>G Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.318+9A>G Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.319-124C>A Single submitter
- c.319-16T>A Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.319-16T>G Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.319-17_319-16insCT Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.319-18_319-17insG Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.319-19_319-18insG Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.319-19_319-18insGT Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.319-213C>G Single submitter
- c.319-7T>C Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.384+11T>C Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.384+13A>G Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.384+147G>A Single submitter
- c.385-5T>C Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.402+1211T>C Single submitter
- c.402+1346G>A Single submitter
- c.402+297TA[5] Single submitter
- c.402+8C>G Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.403-17G>A Single submitter Lesch-Nyhan syndrome
- c.403-18T>C Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.403-228C>T Single submitter
- c.403-7T>A Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.485+1206A>G Single submitter
- c.485+1206dup Single submitter
- c.485+1213G>A Single submitter
- c.485+15T>A Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.485+862G>A Single submitter
- c.532+18T>C Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.532+20T>C Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.533-11A>G Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.533-12G>T Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.533-13T>C Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- c.609+14T>G Single submitter Lesch-Nyhan syndrome
- c.610-4A>G Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Ala50= Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Ala64= Single submitter
- p.Arg34= Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Arg87= Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Asn86= Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Cys23= Single submitter Lesch-Nyhan syndrome
- p.Glu47= Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Gly112= Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Gly173= Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Gly58= Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Gly59= Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.His39= Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Leu131= Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Leu147= Single submitter Lesch-Nyhan syndrome
- p.Leu164= Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Leu19= Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Leu68= Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Ser148= Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Thr139= Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Thr3= Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Val133= Single submitter Lesch-Nyhan syndrome
- p.Val205= Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Val53= Single submitter Lesch-Nyhan syndrome
- c.319-9_319-7dup No assertion criteria HPRT1-related disorder
Uncertain significance 66
- p.Asn26Thr Multiple submitters Lesch-Nyhan syndrome ⚠
- p.Gln109Lys Multiple submitters History of neurodevelopmental disorder ⚠
- p.Gln144Arg Multiple submitters hypoxanthine guanine phosphoribosyltransferase partial deficiency ⚠
- p.Phe187Val Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
- p.Ser162Ile Multiple submitters hypoxanthine guanine phosphoribosyltransferase partial deficiency ⚠
- p.Thr124Ala Multiple submitters hypoxanthine guanine phosphoribosyltransferase partial deficiency ⚠
- p.Val179Ala Multiple submitters Lesch-Nyhan syndrome ⚠
- p.Val8Ile Multiple submitters hypoxanthine guanine phosphoribosyltransferase partial deficiency ⚠
- c.28-6T>C Single submitter Lesch-Nyhan syndrome
- c.384+5G>T Single submitter
- c.486-7T>G Single submitter
- c.533-5T>G Single submitter HPRT1-related disorder
- c.610-3T>A Single submitter
- c.610-5T>A Single submitter Lesch-Nyhan syndrome
- p.Ala218Gly Single submitter Lesch-Nyhan syndrome ⚠
- p.Ala2Ser Single submitter Lesch-Nyhan syndrome ⚠
- p.Arg151Ser Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Arg200Lys Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency ⚠
- p.Arg34Gly Single submitter ⚠
- p.Arg91Ser Single submitter Lesch-Nyhan syndrome ⚠
- p.Asn196Ser Single submitter Lesch-Nyhan syndrome ⚠
- p.Asn26Ser Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency ⚠
- p.Asp113Tyr Single submitter ⚠
- p.Asp12Gly Single submitter ⚠
- p.Asp12Tyr Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency ⚠
- p.Asp138Asn Single submitter Lesch-Nyhan syndrome ⚠
- p.Asp18Gly Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency ⚠
- p.Asp52Gly Single submitter Lesch-Nyhan syndrome ⚠
- p.Asp52Tyr Single submitter ⚠
- p.Asp80Glu Single submitter ⚠
- p.Cys206Tyr Single submitter ⚠
- p.Cys66Phe Single submitter Lesch-Nyhan syndrome ⚠
- p.Gln144= Single submitter
- p.Gln152His Single submitter ⚠
- p.Glu197Lys Single submitter Lesch-Nyhan syndrome ⚠
- p.Glu33Lys Single submitter Lesch-Nyhan syndrome
- p.Glu47Gln Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency ⚠
- p.Gly119Arg Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency ⚠
- p.Gly140Asp Single submitter Lesch-Nyhan syndrome ⚠
- p.Gly140Cys Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency ⚠
- p.Gly190Glu Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency ⚠
- p.His60Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile117Thr Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Ile24Leu Single submitter Lesch-Nyhan syndrome ⚠
- p.Ile37Phe Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency ⚠
- p.Ile62Val Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency ⚠
- p.Leu122Phe Single submitter ⚠
- p.Leu193Phe Single submitter ⚠
- p.Lys166Glu Single submitter ⚠
- p.Lys215_Tyr216insTer Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Met54Thr Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency ⚠
- p.Pro25Arg Single submitter ⚠
- p.Pro25Ser Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Ser162Asn Single submitter Lesch-Nyhan syndrome ⚠
- p.Ser171Asn Single submitter
- p.Ser209Arg Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency ⚠
- p.Ser92Pro Single submitter ⚠
- p.Ter219Lys Single submitter
- p.Thr126Ala Single submitter ⚠
- p.Tyr174Cys Single submitter ⚠
- p.Tyr195Ter Single submitter Lesch-Nyhan syndrome
- p.Tyr216Ter Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Val189Gly Single submitter ⚠
- p.Val207_Ile208insCysVal Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency
- p.Val53Met Single submitter hypoxanthine guanine phosphoribosyltransferase partial deficiency ⚠
- p.Cys206Phe No assertion criteria HPRT1-related disorder ⚠