| - GRCh37:
- ChrX:133620474-133620475
- GRCh38:
- ChrX:134486444-134486445
| HPRT1 | | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, not provided
| Likely benign (Jul 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:133609309
- GRCh38:
- ChrX:134475279
| HPRT1 | L78P | Lesch-Nyhan syndrome | Pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133620561
- GRCh38:
- ChrX:134486531
| HPRT1 | | Lesch-Nyhan syndrome | Likely pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133607496
- GRCh38:
- ChrX:134473466
| HPRT1 | | Lesch-Nyhan syndrome | Likely pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133632728
- GRCh38:
- ChrX:134498698
| HPRT1 | | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | Likely benign (Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133632456
- GRCh38:
- ChrX:134498426
| HPRT1 | | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | Benign (Sep 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133609235
- GRCh38:
- ChrX:134475205
| HPRT1 | | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | Likely benign (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133632439
- GRCh38:
- ChrX:134498409
| HPRT1 | P169A | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Nephrolithiasis/nephrocalcinosis, Inborn genetic diseases | Benign/Likely benign (Dec 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:133632442
- GRCh38:
- ChrX:134498412
| HPRT1 | | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome | Benign (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133607430
- GRCh38:
- ChrX:134473400
| HPRT1 | | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome | Likely benign (Sep 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133609267
- GRCh38:
- ChrX:134475237
| HPRT1 | A64D | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133632651
- GRCh38:
- ChrX:134498621
| HPRT1 | | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome | Uncertain significance (Oct 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133632704
- GRCh38:
- ChrX:134498674
| HPRT1 | R200K | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome | Uncertain significance (Aug 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133632466-133632467
- GRCh38:
- ChrX:134498436-134498437
| HPRT1 | | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | Likely pathogenic (Apr 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:133607414
- GRCh38:
- ChrX:134473384
| HPRT1 | D18G | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133632400-133634107
| HPRT1 | | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | Pathogenic (Oct 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133627565
- GRCh38:
- ChrX:134493535
| HPRT1 | Q144* | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome | Pathogenic (Nov 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133632661-133632662
- GRCh38:
- ChrX:134498631-134498632
| HPRT1 | K186fs | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome | Pathogenic (Oct 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133594349-133594355
- GRCh38:
- ChrX:134460319-134460325
| HPRT1, LOC107032760 | R4fs | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | Pathogenic (Dec 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133627605-133627606
- GRCh38:
- ChrX:134493575-134493576
| HPRT1 | V158fs | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | Pathogenic (Jul 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133594364
- GRCh38:
- ChrX:134460334
| HPRT1, LOC107032760 | V8G | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133607479
- GRCh38:
- ChrX:134473449
| HPRT1 | G40* | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome | Pathogenic (Jan 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133632409
- GRCh38:
- ChrX:134498379
| HPRT1 | | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
| Benign (Sep 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:133620474-133620475
- GRCh38:
- ChrX:134486444-134486445
| HPRT1 | | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, not provided
| Benign (Oct 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:133607438
- GRCh38:
- ChrX:134473408
| HPRT1 | N26T | not specified, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
| Uncertain significance (Jan 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:133632644
- GRCh38:
- ChrX:134498614
| HPRT1 | G180E | Lesch-Nyhan syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:133620579
- GRCh38:
- ChrX:134486549
| HPRT1 | | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome | Benign/Likely benign (Aug 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132670132-133634127
| CCDC160, GPC3, HPRT1, MIR106A, MIR19B2, PHF6 | | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | Pathogenic (Jul 14, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133609288
- GRCh38:
- ChrX:134475258
| HPRT1 | G71V | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | Pathogenic (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133594330-133594342
- GRCh38:
- ChrX:134460300-134460312
| LOC107032760, HPRT1 | M1fs | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome | Likely pathogenic (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133632417
- GRCh38:
- ChrX:134498387
| HPRT1 | | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133620531
- GRCh38:
- ChrX:134486501
| HPRT1 | G119R | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133632668
- GRCh38:
- ChrX:134498638
| HPRT1 | | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome | Likely pathogenic (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133607483-133607486
- GRCh38:
- ChrX:134473453-134473456
| HPRT1 | I42fs | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome | Pathogenic (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133632418
- GRCh38:
- ChrX:134498388
| HPRT1 | | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | Pathogenic (Oct 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133627616
- GRCh38:
- ChrX:134493586
| HPRT1 | A161T | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome | Likely pathogenic (Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133594355-133594388
- GRCh38:
- ChrX:134460325-134460358
| HPRT1, LOC107032760 | | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome | Pathogenic (Dec 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133634040-133634127
| HPRT1 | | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | Pathogenic (Aug 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133609297
- GRCh38:
- ChrX:134475267
| HPRT1 | F74C | Lesch-Nyhan syndrome | Pathogenic (May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133594322-133594415
- GRCh38:
- ChrX:134460292-134460385
| HPRT1, LOC107032760 | | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome | Pathogenic (Aug 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133634103
- GRCh38:
- ChrX:134500073
| HPRT1 | A218G | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133634060
- GRCh38:
- ChrX:134500030
| HPRT1 | H204Y | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome | Likely pathogenic (Nov 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133634098
- GRCh38:
- ChrX:134500068
| HPRT1 | | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome | Uncertain significance (Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133620493
- GRCh38:
- ChrX:134486463
| HPRT1 | | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome | Pathogenic (Jul 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133607369-133634127
- GRCh38:
- ChrX:134473339-134500097
| HPRT1 | | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome | Pathogenic (Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133620544
- GRCh38:
- ChrX:134486514
| HPRT1 | S123* | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome | Pathogenic (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133632641
- GRCh38:
- ChrX:134498611
| HPRT1 | V179A | not provided, Lesch-Nyhan syndrome | Uncertain significance (Mar 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:133594322-133634127
- GRCh38:
- ChrX:134460292-134500097
| HPRT1, LOC107032760 | | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome | Pathogenic (Dec 11, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133632713-133632714
- GRCh38:
- ChrX:134498683-134498684
| HPRT1 | H204fs | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome | Likely pathogenic (Nov 22, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133620569
- GRCh38:
- ChrX:134486539
| HPRT1 | | not provided, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, not specified | Conflicting interpretations of pathogenicity (Jan 15, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:133620501
- GRCh38:
- ChrX:134486471
| HPRT1 | Q109K | History of neurodevelopmental disorder, Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, not specified | Uncertain significance (Feb 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:133607408
- GRCh38:
- ChrX:134473378
| HPRT1 | G16V | Lesch-Nyhan syndrome | Pathogenic (Jan 6, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133627620
- GRCh38:
- ChrX:134493590
| HPRT1 | S162I | not provided, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
| Uncertain significance (Oct 31, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:133627615
- GRCh38:
- ChrX:134493585
| HPRT1 | | Nephrolithiasis/nephrocalcinosis, Inborn genetic diseases, not provided, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, not specified
| Benign (Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:133607501-133607504
- GRCh38:
- ChrX:134473466-134473469
| HPRT1 | | not provided, Inborn genetic diseases, Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome | Conflicting interpretations of pathogenicity (Jun 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:133609282-133609283
- GRCh38:
- ChrX:134475252-134475253
| HPRT1 | Y72fs | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, not provided, Lesch-Nyhan syndrome | Pathogenic (Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:133632419
- GRCh38:
- ChrX:134498389
| HPRT1 | | not provided, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
| Pathogenic (Sep 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:133609219
- GRCh38:
- ChrX:134475189
| HPRT1 | R48H | not provided, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
| Pathogenic (May 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh38:
- ChrX:134459605-134462608
| HPRT1, LOC107032760 | | Lesch-Nyhan syndrome | Pathogenic (Nov 1, 2001) | no assertion criteria provided |
| - GRCh37:
- ChrX:133627594
- GRCh38:
- ChrX:134493564
| HPRT1 | Y153* | Lesch-Nyhan syndrome, HPRT PARIS | Pathogenic; other (Sep 27, 2017) | no assertion criteria provided |
| - GRCh37:
- ChrX:133627554
- GRCh38:
- ChrX:134493524
| HPRT1 | G140D | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | Uncertain significance (Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133609231
- GRCh38:
- ChrX:134475201
| HPRT1 | D52G | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | Uncertain significance (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133607431-133607432
- GRCh38:
- ChrX:134473401-134473402
| HPRT1 | P25fs | Lesch-Nyhan syndrome, HPRT COORPAROO | Pathogenic (Dec 15, 1991) | no assertion criteria provided |
| - GRCh37:
- ChrX:133627621
- GRCh38:
- ChrX:134493591
| HPRT1 | | HPRT CHERMSIDE, Lesch-Nyhan syndrome | Pathogenic (Dec 15, 1991) | no assertion criteria provided |
| | HPRT1 | | Lesch-Nyhan syndrome | Pathogenic (Jul 1, 1992) | no assertion criteria provided |
| | HPRT1 | | Lesch-Nyhan syndrome | Pathogenic (Oct 24, 2013) | no assertion criteria provided |
| | HPRT1 | | Lesch-Nyhan syndrome | Pathogenic (Jun 1, 1990) | no assertion criteria provided |
| | HPRT1 | | Lesch-Nyhan syndrome | Pathogenic (Jun 1, 1990) | no assertion criteria provided |
| - GRCh38:
- ChrX:134493178-134501176
| HPRT1 | | Lesch-Nyhan syndrome | Pathogenic (Jun 1, 1990) | no assertion criteria provided |
| | HPRT1 | | Lesch-Nyhan syndrome | Pathogenic (Aug 2, 1984) | no assertion criteria provided |
| | HPRT1 | | Lesch-Nyhan syndrome | Pathogenic (Jun 1, 1990) | no assertion criteria provided |
| - GRCh37:
- ChrX:133632442
- GRCh38:
- ChrX:134498412
| HPRT1 | R170* | Lesch-Nyhan syndrome | Pathogenic (Mar 1, 2000) | no assertion criteria provided |
| - GRCh37:
- ChrX:133627563
- GRCh38:
- ChrX:134493533
| HPRT1 | M143K | Lesch-Nyhan syndrome | Pathogenic (Mar 1, 1989) | no assertion criteria provided |
| - GRCh37:
- ChrX:133609227
- GRCh38:
- ChrX:134475197
| HPRT1 | R51* | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, not provided, Lesch-Nyhan syndrome | Pathogenic (Oct 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:133632461
- GRCh38:
- ChrX:134498431
| HPRT1 | P176L | Lesch-Nyhan syndrome | Pathogenic (Jul 1, 1989) | no assertion criteria provided |
| - GRCh37:
- ChrX:133607387
- GRCh38:
- ChrX:134473357
| HPRT1 | | Lesch-Nyhan syndrome | Pathogenic (Jun 1, 1990) | no assertion criteria provided |
| - GRCh37:
- ChrX:133632471
- GRCh38:
- ChrX:134498441
| HPRT1 | | Lesch-Nyhan syndrome | Pathogenic (Jun 1, 1990) | no assertion criteria provided |
| - GRCh37:
- ChrX:133634056-133634058
- GRCh38:
- ChrX:134500026-134500028
| HPRT1 | | Lesch-Nyhan syndrome | Pathogenic (Jun 1, 1990) | no assertion criteria provided |
| - GRCh37:
- ChrX:133632719
- GRCh38:
- ChrX:134498689
| HPRT1 | | not provided | Likely pathogenic (May 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133609232-133609271
- GRCh38:
- ChrX:134475202-134475241
| HPRT1 | M54fs | Lesch-Nyhan syndrome | Pathogenic (Jun 1, 1990) | no assertion criteria provided |
| - GRCh37:
- ChrX:133624224
- GRCh38:
- ChrX:134490194
| HPRT1 | | Lesch-Nyhan syndrome | Pathogenic (Jun 1, 1990) | no assertion criteria provided |
| - GRCh37:
- ChrX:133607486
- GRCh38:
- ChrX:134473456
| HPRT1 | M43fs | Lesch-Nyhan syndrome | Pathogenic (Jun 1, 1990) | no assertion criteria provided |
| - GRCh37:
- ChrX:133609392-133609393
- GRCh38:
- ChrX:134475362-134475363
| HPRT1 | | Lesch-Nyhan syndrome | Pathogenic (Jun 1, 1990) | no assertion criteria provided |
| - GRCh37:
- ChrX:133632463
- GRCh38:
- ChrX:134498433
| HPRT1 | D177Y | Lesch-Nyhan syndrome | Pathogenic (Jun 1, 1990) | no assertion criteria provided |
| - GRCh37:
- ChrX:133607495
- GRCh38:
- ChrX:134473465
| HPRT1 | R45K | Lesch-Nyhan syndrome | Pathogenic (Jun 1, 1990) | no assertion criteria provided |
| - GRCh37:
- ChrX:133634060
- GRCh38:
- ChrX:134500030
| HPRT1 | H204D | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | Likely pathogenic (Apr 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133620501
- GRCh38:
- ChrX:134486471
| HPRT1 | Q109* | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | Pathogenic (Jul 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133609287
- GRCh38:
- ChrX:134475257
| HPRT1 | G71R | not provided | Likely pathogenic (Jun 13, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133609285
- GRCh38:
- ChrX:134475255
| HPRT1 | G70E | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | Pathogenic (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133632700
- GRCh38:
- ChrX:134498670
| HPRT1 | F199V | HPRT NEW BRITON, Lesch-Nyhan syndrome | Pathogenic; other (Sep 26, 2017) | no assertion criteria provided |
| - GRCh37:
- ChrX:133624222
- GRCh38:
- ChrX:134490192
| HPRT1 | V130D | HPRT MIDLAND, Lesch-Nyhan syndrome | Pathogenic; other (Sep 26, 2017) | no assertion criteria provided |
| - GRCh37:
- ChrX:133632637-133632639
- GRCh38:
- ChrX:134498607-134498609
| HPRT1 | | HPRT MICHIGAN, Lesch-Nyhan syndrome | Pathogenic (Jul 1, 1989) | no assertion criteria provided |
| - GRCh37:
- ChrX:133632685
- GRCh38:
- ChrX:134498655
| HPRT1 | | Lesch-Nyhan syndrome | Pathogenic (Jun 1, 1990) | no assertion criteria provided |
| - GRCh37:
- ChrX:133609298
- GRCh38:
- ChrX:134475268
| HPRT1 | F74L | HPRT FLINT, Lesch-Nyhan syndrome | Pathogenic; other (Sep 26, 2017) | no assertion criteria provided |
| - GRCh37:
- ChrX:133634093-133634113
- GRCh38:
- ChrX:134500063-134500083
| HPRT1 | | HPRT EVANSVILLE, Lesch-Nyhan syndrome | Pathogenic; other (Sep 26, 2017) | no assertion criteria provided |
| - GRCh37:
- ChrX:133607483
- GRCh38:
- ChrX:134473453
| HPRT1 | L41P | HPRT DETROIT, Lesch-Nyhan syndrome | Pathogenic; other (Sep 26, 2017) | no assertion criteria provided |
| | HPRT1 | | HPRT CONNERSVILLE, Lesch-Nyhan syndrome | Pathogenic (Jul 1, 1989) | no assertion criteria provided |
| - GRCh37:
- ChrX:133607416-133607417
- GRCh38:
- ChrX:134473386-134473387
| HPRT1 | D20* | HPRT CHICAGO, Lesch-Nyhan syndrome | Pathogenic (Jul 1, 1989) | no assertion criteria provided |
| - GRCh37:
- ChrX:133609315
- GRCh38:
- ChrX:134475285
| HPRT1 | D80V | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | Likely pathogenic (Aug 30, 2021) | criteria provided, single submitter |