Total 63 pathogenic variants reported for Partial hypoxanthine-guanine phosphoribosyltransferase deficiency 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000194.2(HPRT1):c.396T>G (p.Ile132Met) SNV
Germline		 ChrX:134490199 Pathogenic; other HPRT ANN ARBOR
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency		 No Assertion Criteria Provided
 CA120887 rs_137852477

1 SubmittersRCV000010713RCV000010712
NM_000194.2(HPRT1):c.239A>T (p.Asp80Val) SNV
Germline		 ChrX:134475285 Likely pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
HPRT ARLINGTON
Lesch-Nyhan syndrome
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency		 Criteria Provided
Single Submitter
 CA120888 rs_137852478

2 SubmittersRCV000010714RCV000010715RCV001851783
NM_000194.2(HPRT1):c.602A>G (p.Asp201Gly) SNV
Germline		 ChrX:134498677 Pathogenic; other Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
HPRT ASHVILLE		 No Assertion Criteria Provided
 CA120889 rs_137852479

1 SubmittersRCV000010716RCV000010717
NM_000194.2(HPRT1):c.329C>T (p.Ser110Leu) SNV
Germline		 ChrX:134486475 Likely pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
HPRT LONDON
Lesch-Nyhan syndrome
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency		 Criteria Provided
Single Submitter
 CA120894 rs_137852482

2 SubmittersRCV000010730RCV000010731RCV003764546
NM_000194.2(HPRT1):c.481G>T (p.Ala161Ser) SNV
Germline		 ChrX:134493586 Likely pathogenic HPRT MILWAUKEE
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Lesch-Nyhan syndrome
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency		 Criteria Provided
Single Submitter
 CA120896 rs_137852484

2 SubmittersRCV000010737RCV000010736RCV003764547
NM_000194.2(HPRT1):c.312C>A (p.Ser104Arg) SNV
Germline		 ChrX:134475358 Pathogenic; other HPRT MUNICH
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency		 No Assertion Criteria Provided
 CA120897 rs_137852485

1 SubmittersRCV000010739RCV000010738
NM_000194.2(HPRT1):c.209G>A (p.Gly70Glu) SNV
Germline		 ChrX:134475255 Pathogenic Lesch-Nyhan syndrome
HPRT NEW HAVEN
Lesch-Nyhan syndrome
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency		 Criteria Provided
Single Submitter
 CA120899 rs_137852487

2 SubmittersRCV000010742RCV000010743RCV001851784
NM_000194.3(HPRT1):c.325C>T (p.Gln109Ter) SNV
Germline		 ChrX:134486471 Pathogenic Lesch-Nyhan syndrome
Lesch-Nyhan syndrome
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254997 rs_137852489

3 SubmittersRCV000010746RCV000631414RCV004700213
NM_000194.3(HPRT1):c.610C>G (p.His204Asp) SNV
Germline		 ChrX:134500030 Likely pathogenic Lesch-Nyhan syndrome
Lesch-Nyhan syndrome
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency		 Criteria Provided
Single Submitter
 CA254999 rs_137852490

2 SubmittersRCV000010747RCV001250108
NM_000194.2(HPRT1):c.151C>G (p.Arg51Gly) SNV
Germline		 ChrX:134475197 Pathogenic; other Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
HPRT TORONTO		 No Assertion Criteria Provided
 CA120901 rs_137852494

1 SubmittersRCV000010759RCV000010760
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter) SNV
Germline		 ChrX:134475197 Pathogenic HPRT FUJIMI
Lesch-Nyhan syndrome
Condition: not provided
Microcephaly
Lesch-Nyhan syndrome
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA120902 rs_137852494

7 SubmittersRCV000010762RCV000010761RCV000153366RCV001252944RCV001224361
NM_000194.3(HPRT1):c.508C>T (p.Arg170Ter) SNV
Germline		 ChrX:134498412 Pathogenic/Likely pathogenic Lesch-Nyhan syndrome
Lesch-Nyhan syndrome
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA255005 rs_137852497

3 SubmittersRCV000010766RCV003764548
NM_000194.2(HPRT1):c.503C>T (p.Thr168Ile) SNV
Germline		 ChrX:134498407 Pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency No Assertion Criteria Provided
 CA120905 rs_137852498

1 SubmittersRCV000010776
NM_000194.2(HPRT1):c.46G>A (p.Gly16Ser) SNV
Germline		 ChrX:134473377 Pathogenic; other Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
HPRT URANGAN		 No Assertion Criteria Provided
 CA120906 rs_137852499

1 SubmittersRCV000010777RCV000010778
NM_000194.2(HPRT1):c.172G>A (p.Gly58Arg) SNV
Germline		 ChrX:134475218 Pathogenic; other Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
HPRT TOOWONG		 No Assertion Criteria Provided
 CA120907 rs_137852500

1 SubmittersRCV000010779RCV000010780
NM_000194.2(HPRT1):c.232C>G (p.Leu78Val) SNV
Germline		 ChrX:134475278 Pathogenic; other Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
HPRT SWAN		 No Assertion Criteria Provided
 CA120908 rs_137852501

1 SubmittersRCV000010781RCV000010782
HPRT CHERMSIDE SNV
Germline		 ChrX:134493591 Pathogenic Lesch-Nyhan syndrome
HPRT CHERMSIDE
Lesch-Nyhan syndrome
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency		 Criteria Provided
Single Submitter
 CA414714619 rs_2077673385

2 SubmittersRCV000010783RCV001255650RCV003764549
NM_000194.2(HPRT1):c.582C>G (p.Asp194Glu) SNV
Germline		 ChrX:134498657 Pathogenic; other Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
HPRT MOOSE JAW		 No Assertion Criteria Provided
 CA120913 rs_137852504

1 SubmittersRCV000010791RCV000010792
NM_000194.3(HPRT1):c.193C>T (p.Leu65Phe) SNV
Germline		 ChrX:134475239 Pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency No Assertion Criteria Provided
 CA120916 rs_137852506

1 SubmittersRCV000010796
NM_000194.3(HPRT1):c.143G>A (p.Arg48His) SNV
Germline		 ChrX:134475189 Pathogenic Lesch-nyhan syndrome, neurologic variant
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Lesch-Nyhan syndrome
Condition: not provided
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
HPRT1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA128815 rs_387906725

6 SubmittersRCV000022877RCV000690811RCV001092162RCV001255647RCV003398561
NM_000194.3(HPRT1):c.384+1G>A SNV
Germline		 ChrX:134486531 Pathogenic Condition: not provided
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Lesch-Nyhan syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA220477 rs_398123240

2 SubmittersRCV000344145RCV005222740
NM_000194.3(HPRT1):c.486-1G>A SNV
Germline		 ChrX:134498389 Pathogenic Condition: not provided
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Lesch-Nyhan syndrome
Thyroid cancer, nonmedullary, 1
Nonpapillary renal cell carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA220478 rs_398123241

3 SubmittersRCV000078345RCV001854376RCV005886166RCV005886165
NM_000194.3(HPRT1):c.384+9C>T SNV
Germline		 ChrX:134486539 Conflicting classifications of pathogenicity not specified
Lesch-Nyhan syndrome
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10521371 rs_748658007

3 SubmittersRCV000501452RCV001511369RCV006447265
NM_000194.3(HPRT1):c.368C>G (p.Ser123Ter) SNV
Germline		 ChrX:134486514 Pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Lesch-Nyhan syndrome		 Criteria Provided
Single Submitter
 CA414713712 rs_369065223

1 SubmittersRCV000706332
NM_000194.3(HPRT1):c.610C>T (p.His204Tyr) SNV
Germline		 ChrX:134500030 Likely pathogenic Lesch-Nyhan syndrome
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency		 Criteria Provided
Single Submitter
 CA414716345 rs_137852490

1 SubmittersRCV000810491
NM_000194.3(HPRT1):c.319-2A>G SNV
Germline		 ChrX:134486463 Pathogenic Lesch-Nyhan syndrome
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency		 Criteria Provided
Single Submitter
 CA414713593 rs_1602745376

1 SubmittersRCV000800143
NM_000194.3(HPRT1):c.481G>A (p.Ala161Thr) SNV
Germline		 ChrX:134493586 Likely pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Lesch-Nyhan syndrome
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter
 CA414714591 rs_137852484

2 SubmittersRCV001051587RCV005912505
NM_000194.3(HPRT1):c.486-2A>G SNV
Germline		 ChrX:134498388 Pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Lesch-Nyhan syndrome		 Criteria Provided
Single Submitter
 CA414715454 rs_2077687102

1 SubmittersRCV001063460
NM_000194.3(HPRT1):c.486-3C>G SNV
Germline		 ChrX:134498387 Pathogenic Lesch-Nyhan syndrome
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency		 Criteria Provided
Single Submitter
 CA2459744881 rs_2077687093

1 SubmittersRCV001342916
NM_000194.3(HPRT1):c.212G>T (p.Gly71Val) SNV
Germline		 ChrX:134475258 Pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Lesch-Nyhan syndrome		 Criteria Provided
Single Submitter
 CA414712090 rs_2124291450

1 SubmittersRCV001387578
NM_000194.3(HPRT1):c.118G>T (p.Gly40Ter) SNV
Germline		 ChrX:134473449 Pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Lesch-Nyhan syndrome		 Criteria Provided
Single Submitter
 CA414711443 rs_2124290355

1 SubmittersRCV001889471
NM_000194.3(HPRT1):c.546A>G (p.Glu182=) SNV
Germline		 ChrX:134498621 Conflicting classifications of pathogenicity HPRT1-related disorder
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Lesch-Nyhan syndrome		 Criteria Provided
Conflicting Classifications
 CA518651517 rs_2124305311

2 SubmittersRCV003408064RCV001996184
NM_000194.3(HPRT1):c.191C>A (p.Ala64Asp) SNV
Germline		 ChrX:134475237 Pathogenic Lesch-Nyhan syndrome
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency		 Criteria Provided
Single Submitter
 CA414712046 rs_2124291425

1 SubmittersRCV002045579
NM_000194.3(HPRT1):c.430C>T (p.Gln144Ter) SNV
Germline		 ChrX:134493535 Pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Lesch-Nyhan syndrome		 Criteria Provided
Single Submitter
 CA414714307 rs_2124302024

1 SubmittersRCV001951336
NM_000194.3(HPRT1):c.611A>T (p.His204Leu) SNV
Germline		 ChrX:134500031 Pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Lesch-Nyhan syndrome		 Criteria Provided
Single Submitter
 CA414716349 rs_2520844451

1 SubmittersRCV003050654
NM_000194.3(HPRT1):c.134+18A>G SNV
Germline		 ChrX:134473483 Conflicting classifications of pathogenicity Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Lesch-Nyhan syndrome		 Criteria Provided
Conflicting Classifications
 CA10521332 rs_763953406

2 SubmittersRCV002624528
NM_000194.3(HPRT1):c.402+1229A>G SNV
Germline		 ChrX:134491434 Likely pathogenic Lesch-Nyhan syndrome
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency		 Criteria Provided
Single Submitter
 CA2695236042 rs_1247346147

1 SubmittersRCV003783780
NM_000194.3(HPRT1):c.403G>T (p.Asp135Tyr) SNV
Germline		 ChrX:134493508 Pathogenic Lesch-Nyhan syndrome
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency		 Criteria Provided
Single Submitter
 CA414714151 rs_2520830173

1 SubmittersRCV003783781
NM_000194.3(HPRT1):c.47G>C (p.Gly16Ala) SNV
Germline		 ChrX:134473378 Likely pathogenic Lesch-Nyhan syndrome
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency		 Criteria Provided
Single Submitter

1 SubmittersRCV005041607
NM_000194.3(HPRT1):c.208G>A (p.Gly70Arg) SNV
Germline		 ChrX:134475254 Pathogenic Lesch-Nyhan syndrome
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency		 Criteria Provided
Single Submitter

1 SubmittersRCV005223722
NM_000194.3(HPRT1):c.385-2A>G SNV
Germline		 ChrX:134490186 Pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Lesch-Nyhan syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005223723
NM_000194.3(HPRT1):c.610-1G>A SNV
Germline		 ChrX:134500029 Pathogenic Lesch-Nyhan syndrome
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency		 Criteria Provided
Single Submitter

1 SubmittersRCV005223726
NM_000194.3(HPRT1):c.112C>G (p.Pro38Ala) SNV
Germline		 ChrX:134473443 Likely pathogenic Lesch-Nyhan syndrome
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency		 Criteria Provided
Single Submitter

1 SubmittersRCV006250045