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Items: 93

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:133627564-133629109
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Aug 26, 2022)
criteria provided, single submitter
2.
GRCh37:
ChrX:133627518-133628822
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Sep 1, 2022)
criteria provided, single submitter
3.
GRCh37:
ChrX:132670152-133634107
CCDC160, GPC3, HPRT1, MIR106A, MIR19B2, PHF6Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeUncertain significance
(Sep 16, 2021)
criteria provided, single submitter
4.
GRCh37:
ChrX:133634046-133634047
GRCh38:
ChrX:134500016-134500017
HPRT1Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyBenign
(Aug 11, 2022)
criteria provided, single submitter
5.
GRCh37:
ChrX:133620479
GRCh38:
ChrX:134486449
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeLikely benign
(Jun 16, 2022)
criteria provided, single submitter
6.
GRCh37:
ChrX:133632734
GRCh38:
ChrX:134498704
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeBenign
(Sep 23, 2022)
criteria provided, single submitter
7.
GRCh37:
ChrX:133607513
GRCh38:
ChrX:134473483
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeLikely benign
(May 29, 2022)
criteria provided, single submitter
8.
GRCh37:
ChrX:133634047-133634048
GRCh38:
ChrX:134500017-134500018
HPRT1Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyBenign
(Jul 19, 2022)
criteria provided, single submitter
9.
GRCh37:
ChrX:133634061
GRCh38:
ChrX:134500031
HPRT1H204LPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Jul 21, 2022)
criteria provided, single submitter
10.
GRCh37:
ChrX:133620509-133620510
GRCh38:
ChrX:134486479-134486480
HPRT1D113fsPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Nov 19, 2021)
criteria provided, single submitter
11.
GRCh37:
ChrX:133609364-133609365
GRCh38:
ChrX:134475334-134475335
HPRT1V97fsPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, Lesch-Nyhan syndrome
Pathogenic
(Sep 22, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
ChrX:133609283
GRCh38:
ChrX:134475253
HPRT1G71fsPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Aug 12, 2022)
criteria provided, single submitter
13.
GRCh37:
ChrX:133607395
GRCh38:
ChrX:134473365
HPRT1D12YPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeUncertain significance
(May 6, 2022)
criteria provided, single submitter
14.
GRCh37:
ChrX:133620546
GRCh38:
ChrX:134486516
HPRT1T124APartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeUncertain significance
(Jun 1, 2022)
criteria provided, single submitter
15.
GRCh37:
ChrX:133609215
GRCh38:
ChrX:134475185
HPRT1E47QPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeUncertain significance
(Jan 17, 2022)
criteria provided, single submitter
16.
GRCh37:
ChrX:133607375
GRCh38:
ChrX:134473345
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeBenign
(Oct 19, 2022)
criteria provided, single submitter
17.
GRCh37:
ChrX:133607478
GRCh38:
ChrX:134473448
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeLikely benign
(Oct 13, 2022)
criteria provided, single submitter
18.
GRCh37:
ChrX:133634061-133634062
GRCh38:
ChrX:134500031-134500032
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeUncertain significance
(Sep 3, 2022)
criteria provided, single submitter
19.
GRCh37:
ChrX:133634065
GRCh38:
ChrX:134500035
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeLikely benign
(Jun 3, 2022)
criteria provided, single submitter
20.
GRCh37:
ChrX:133627526
GRCh38:
ChrX:134493496
HPRT1Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyBenign
(Mar 19, 2022)
criteria provided, single submitter
21.
GRCh37:
ChrX:133609280
GRCh38:
ChrX:134475250
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeLikely benign
(Oct 2, 2022)
criteria provided, single submitter
22.
GRCh37:
ChrX:133624213
GRCh38:
ChrX:134490183
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeLikely benign
(Aug 26, 2022)
criteria provided, single submitter
23.
GRCh37:
ChrX:133609260
GRCh38:
ChrX:134475230
HPRT1I62VPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeUncertain significance
(Aug 12, 2022)
criteria provided, single submitter
24.
GRCh37:
ChrX:133620474-133620475
GRCh38:
ChrX:134486444-134486445
HPRT1not provided, Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Likely benign
(Jul 21, 2021)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
ChrX:133632728
GRCh38:
ChrX:134498698
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeLikely benign
(Jul 18, 2022)
criteria provided, single submitter
26.
GRCh37:
ChrX:133632456
GRCh38:
ChrX:134498426
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeBenign
(Sep 5, 2022)
criteria provided, single submitter
27.
GRCh37:
ChrX:133609235
GRCh38:
ChrX:134475205
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeLikely benign
(Aug 23, 2022)
criteria provided, single submitter
28.
GRCh37:
ChrX:133632439
GRCh38:
ChrX:134498409
HPRT1P169ANephrolithiasis/nephrocalcinosis, Inborn genetic diseases, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency,
Lesch-Nyhan syndrome
Benign/Likely benign
(Dec 30, 2021)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
ChrX:133632442
GRCh38:
ChrX:134498412
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeBenign
(Oct 3, 2022)
criteria provided, single submitter
30.
GRCh37:
ChrX:133607430
GRCh38:
ChrX:134473400
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeLikely benign
(Sep 9, 2021)
criteria provided, single submitter
31.
GRCh37:
ChrX:133609267
GRCh38:
ChrX:134475237
HPRT1A64DPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
32.
GRCh37:
ChrX:133632651
GRCh38:
ChrX:134498621
HPRT1HPRT1-related condition, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
Uncertain significance
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
ChrX:133632704
GRCh38:
ChrX:134498674
HPRT1R200KPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeUncertain significance
(Aug 14, 2021)
criteria provided, single submitter
34.
GRCh37:
ChrX:133632466-133632467
GRCh38:
ChrX:134498436-134498437
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeLikely pathogenic
(Apr 13, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
ChrX:133607414
GRCh38:
ChrX:134473384
HPRT1D18GPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
36.
GRCh37:
ChrX:133632400-133634107
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Oct 27, 2021)
criteria provided, single submitter
37.
GRCh37:
ChrX:133627565
GRCh38:
ChrX:134493535
HPRT1Q144*Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Nov 3, 2021)
criteria provided, single submitter
38.
GRCh37:
ChrX:133632661-133632662
GRCh38:
ChrX:134498631-134498632
HPRT1K186fsPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Oct 27, 2021)
criteria provided, single submitter
39.
GRCh37:
ChrX:133594349-133594355
GRCh38:
ChrX:134460319-134460325
HPRT1, LOC107032760, LOC129929047R4fsLesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyPathogenic
(Dec 19, 2021)
criteria provided, single submitter
40.
GRCh37:
ChrX:133627605-133627606
GRCh38:
ChrX:134493575-134493576
HPRT1V158fsPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Jul 17, 2021)
criteria provided, single submitter
41.
GRCh37:
ChrX:133594364
GRCh38:
ChrX:134460334
HPRT1, LOC107032760, LOC129929047V8GPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
42.
GRCh37:
ChrX:133607479
GRCh38:
ChrX:134473449
HPRT1G40*Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Jan 8, 2021)
criteria provided, single submitter
43.
GRCh37:
ChrX:133632409
GRCh38:
ChrX:134498379
HPRT1not provided, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency,
Lesch-Nyhan syndrome
Benign/Likely benign
(Oct 1, 2023)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
ChrX:133620474-133620475
GRCh38:
ChrX:134486444-134486445
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, not provided
Benign
(Oct 23, 2021)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
ChrX:133607438
GRCh38:
ChrX:134473408
HPRT1N26Tnot specified, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
Uncertain significance
(Jan 10, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
ChrX:133620579
GRCh38:
ChrX:134486549
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeBenign/Likely benign
(Aug 6, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
ChrX:132670132-133634127
CCDC160, GPC3, HPRT1, MIR106A, MIR19B2, PHF6Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Jul 14, 2020)
criteria provided, single submitter
48.
GRCh37:
ChrX:133609288
GRCh38:
ChrX:134475258
HPRT1G71VPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Aug 31, 2021)
criteria provided, single submitter
49.
GRCh37:
ChrX:133594330-133594342
GRCh38:
ChrX:134460300-134460312
HPRT1, LOC107032760, LOC129929047M1fsPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeLikely pathogenic
(Aug 27, 2021)
criteria provided, single submitter
50.
GRCh37:
ChrX:133632417
GRCh38:
ChrX:134498387
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
51.
GRCh37:
ChrX:133620531
GRCh38:
ChrX:134486501
HPRT1G119RPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
52.
GRCh37:
ChrX:133632668
GRCh38:
ChrX:134498638
HPRT1Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyLikely pathogenic
(Aug 31, 2021)
criteria provided, single submitter
53.
GRCh37:
ChrX:133607483-133607486
GRCh38:
ChrX:134473453-134473456
HPRT1I42fsPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Aug 30, 2021)
criteria provided, single submitter
54.
GRCh37:
ChrX:133632418
GRCh38:
ChrX:134498388
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Oct 28, 2022)
criteria provided, single submitter
55.
GRCh37:
ChrX:133627616
GRCh38:
ChrX:134493586
HPRT1A161TPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeLikely pathogenic
(Jul 14, 2021)
criteria provided, single submitter
56.
GRCh37:
ChrX:133594355-133594388
GRCh38:
ChrX:134460325-134460358
LOC129929047, HPRT1, LOC107032760Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Dec 24, 2019)
criteria provided, single submitter
57.
GRCh37:
ChrX:133634040-133634127
HPRT1Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyPathogenic
(Aug 4, 2021)
criteria provided, single submitter
58.
GRCh37:
ChrX:133594322-133594415
GRCh38:
ChrX:134460292-134460385
HPRT1, LOC107032760, LOC129929047Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Aug 4, 2021)
criteria provided, single submitter
59.
GRCh37:
ChrX:133634103
GRCh38:
ChrX:134500073
HPRT1A218GPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
60.
GRCh37:
ChrX:133634060
GRCh38:
ChrX:134500030
HPRT1H204YPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeLikely pathogenic
(Nov 6, 2018)
criteria provided, single submitter
61.
GRCh37:
ChrX:133634098
GRCh38:
ChrX:134500068
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeUncertain significance
(Aug 12, 2021)
criteria provided, single submitter
62.
GRCh37:
ChrX:133620493
GRCh38:
ChrX:134486463
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Jul 24, 2018)
criteria provided, single submitter
63.
GRCh37:
ChrX:133607369-133634127
GRCh38:
ChrX:134473339-134500097
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Aug 12, 2021)
criteria provided, single submitter
64.
GRCh37:
ChrX:133620544
GRCh38:
ChrX:134486514
HPRT1S123*Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyPathogenic
(Aug 26, 2021)
criteria provided, single submitter
65.
GRCh37:
ChrX:133594322-133634127
GRCh38:
ChrX:134460292-134500097
HPRT1, LOC107032760, LOC129929047Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Dec 11, 2017)
criteria provided, single submitter
66.
GRCh37:
ChrX:133632713-133632714
GRCh38:
ChrX:134498683-134498684
HPRT1H204fsPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeLikely pathogenic
(Nov 22, 2017)
criteria provided, single submitter
67.
GRCh37:
ChrX:133620569
GRCh38:
ChrX:134486539
HPRT1Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, not specified
Conflicting interpretations of pathogenicity
(Jan 15, 2021)
criteria provided, conflicting interpretations
68.
GRCh37:
ChrX:133620501
GRCh38:
ChrX:134486471
HPRT1Q109Knot specified, History of neurodevelopmental disorder, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency,
Lesch-Nyhan syndrome
Uncertain significance
(Feb 9, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
ChrX:133627620
GRCh38:
ChrX:134493590
HPRT1S162ILesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, not provided
Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
ChrX:133627615
GRCh38:
ChrX:134493585
HPRT1Inborn genetic diseases, Nephrolithiasis/nephrocalcinosis, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency,
Lesch-Nyhan syndrome, not specified
Benign
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
ChrX:133607501-133607504
GRCh38:
ChrX:134473466-134473469
HPRT1Inborn genetic diseases, Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency,
not provided, Lesch-Nyhan syndrome
Conflicting interpretations of pathogenicity
(Jun 19, 2022)
criteria provided, conflicting interpretations
72.
GRCh37:
ChrX:133609282-133609283
GRCh38:
ChrX:134475252-134475253
HPRT1Y72fsPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, not provided,
Lesch-Nyhan syndrome
Pathogenic
(Aug 31, 2021)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
ChrX:133632419
GRCh38:
ChrX:134498389
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, not provided
Pathogenic
(Sep 16, 2021)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
ChrX:133609219
GRCh38:
ChrX:134475189
HPRT1R48HHPRT1-related condition, Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency,
not provided
Pathogenic
(Aug 18, 2023)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
ChrX:133609269
GRCh38:
ChrX:134475239
HPRT1L65FPartial hypoxanthine-guanine phosphoribosyltransferase deficiencyPathogenic
(Mar 15, 2002)
no assertion criteria provided
76.
GRCh37:
ChrX:133632687
GRCh38:
ChrX:134498657
HPRT1D194EPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT MOOSE JAWPathogenic; other
(Sep 10, 2020)
no assertion criteria provided
77.
GRCh37:
ChrX:133627554
GRCh38:
ChrX:134493524
HPRT1G140DLesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyUncertain significance
(Sep 2, 2021)
criteria provided, single submitter
78.
GRCh37:
ChrX:133609231
GRCh38:
ChrX:134475201
HPRT1D52GLesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
79.
GRCh37:
ChrX:133609308
GRCh38:
ChrX:134475278
HPRT1L78VPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT SWANPathogenic; other
(May 12, 2011)
no assertion criteria provided
80.
GRCh37:
ChrX:133609248
GRCh38:
ChrX:134475218
HPRT1G58RPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT TOOWONGPathogenic; other
(May 12, 2011)
no assertion criteria provided
81.
GRCh37:
ChrX:133607407
GRCh38:
ChrX:134473377
HPRT1G16SPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT URANGANPathogenic; other
(May 12, 2011)
no assertion criteria provided
82.
GRCh37:
ChrX:133632437
GRCh38:
ChrX:134498407
HPRT1T168IPartial hypoxanthine-guanine phosphoribosyltransferase deficiencyPathogenic
(Jan 1, 1990)
no assertion criteria provided
83.
GRCh37:
ChrX:133609227
GRCh38:
ChrX:134475197
HPRT1R51*Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, not provided,
Lesch-Nyhan syndrome
Pathogenic
(Oct 25, 2023)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
ChrX:133609227
GRCh38:
ChrX:134475197
HPRT1R51GPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT TORONTOPathogenic; other
(Sep 10, 2020)
no assertion criteria provided
85.
GRCh37:
ChrX:133634060
GRCh38:
ChrX:134500030
HPRT1H204DLesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyLikely pathogenic
(Apr 1, 2020)
criteria provided, single submitter
86.
GRCh37:
ChrX:133620501
GRCh38:
ChrX:134486471
HPRT1Q109*Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyPathogenic
(Jul 12, 2021)
criteria provided, single submitter
87.
GRCh37:
ChrX:133609285
GRCh38:
ChrX:134475255
HPRT1G70ELesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyPathogenic
(Sep 1, 2021)
criteria provided, single submitter
88.
GRCh37:
ChrX:133609388
GRCh38:
ChrX:134475358
HPRT1S104RPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT MUNICHPathogenic; other
(Sep 10, 2020)
no assertion criteria provided
89.
GRCh37:
ChrX:133627616
GRCh38:
ChrX:134493586
HPRT1A161SPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT MILWAUKEEPathogenic; other
(Sep 10, 2020)
no assertion criteria provided
90.
GRCh37:
ChrX:133620505
GRCh38:
ChrX:134486475
HPRT1S110LPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT LONDONPathogenic; other
(Sep 10, 2020)
no assertion criteria provided
91.
GRCh37:
ChrX:133632707
GRCh38:
ChrX:134498677
HPRT1D201GPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT ASHVILLEPathogenic; other
(Sep 10, 2020)
no assertion criteria provided
92.
GRCh37:
ChrX:133609315
GRCh38:
ChrX:134475285
HPRT1D80VLesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyLikely pathogenic
(Aug 30, 2021)
criteria provided, single submitter
93.
GRCh37:
ChrX:133624229
GRCh38:
ChrX:134490199
HPRT1I132MPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT ANN ARBORPathogenic; other
(Sep 10, 2020)
no assertion criteria provided
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