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Links from MedGen

Items: 100

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:133620474-133620475
GRCh38:
ChrX:134486444-134486445
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, not provided
Likely benign
(Jul 21, 2021)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
ChrX:133609309
GRCh38:
ChrX:134475279
HPRT1L78PLesch-Nyhan syndromePathogenic
(May 4, 2022)
criteria provided, single submitter
3.
GRCh37:
ChrX:133620561
GRCh38:
ChrX:134486531
HPRT1Lesch-Nyhan syndromeLikely pathogenic
(May 4, 2022)
criteria provided, single submitter
4.
GRCh37:
ChrX:133607496
GRCh38:
ChrX:134473466
HPRT1Lesch-Nyhan syndromeLikely pathogenic
(May 4, 2022)
criteria provided, single submitter
5.
GRCh37:
ChrX:133632728
GRCh38:
ChrX:134498698
HPRT1Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyLikely benign
(Jul 18, 2022)
criteria provided, single submitter
6.
GRCh37:
ChrX:133632456
GRCh38:
ChrX:134498426
HPRT1Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyBenign
(Sep 5, 2022)
criteria provided, single submitter
7.
GRCh37:
ChrX:133609235
GRCh38:
ChrX:134475205
HPRT1Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyLikely benign
(Aug 23, 2022)
criteria provided, single submitter
8.
GRCh37:
ChrX:133632439
GRCh38:
ChrX:134498409
HPRT1P169ALesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Nephrolithiasis/nephrocalcinosis,
Inborn genetic diseases
Benign/Likely benign
(Dec 30, 2021)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
ChrX:133632442
GRCh38:
ChrX:134498412
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeBenign
(Oct 3, 2022)
criteria provided, single submitter
10.
GRCh37:
ChrX:133607430
GRCh38:
ChrX:134473400
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeLikely benign
(Sep 9, 2021)
criteria provided, single submitter
11.
GRCh37:
ChrX:133609267
GRCh38:
ChrX:134475237
HPRT1A64DPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
12.
GRCh37:
ChrX:133632651
GRCh38:
ChrX:134498621
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeUncertain significance
(Oct 14, 2021)
criteria provided, single submitter
13.
GRCh37:
ChrX:133632704
GRCh38:
ChrX:134498674
HPRT1R200KPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeUncertain significance
(Aug 14, 2021)
criteria provided, single submitter
14.
GRCh37:
ChrX:133632466-133632467
GRCh38:
ChrX:134498436-134498437
HPRT1Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyLikely pathogenic
(Apr 13, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
ChrX:133607414
GRCh38:
ChrX:134473384
HPRT1D18GPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
16.
GRCh37:
ChrX:133632400-133634107
HPRT1Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyPathogenic
(Oct 27, 2021)
criteria provided, single submitter
17.
GRCh37:
ChrX:133627565
GRCh38:
ChrX:134493535
HPRT1Q144*Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Nov 3, 2021)
criteria provided, single submitter
18.
GRCh37:
ChrX:133632661-133632662
GRCh38:
ChrX:134498631-134498632
HPRT1K186fsPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Oct 27, 2021)
criteria provided, single submitter
19.
GRCh37:
ChrX:133594349-133594355
GRCh38:
ChrX:134460319-134460325
HPRT1, LOC107032760R4fsLesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyPathogenic
(Dec 19, 2021)
criteria provided, single submitter
20.
GRCh37:
ChrX:133627605-133627606
GRCh38:
ChrX:134493575-134493576
HPRT1V158fsLesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyPathogenic
(Jul 17, 2021)
criteria provided, single submitter
21.
GRCh37:
ChrX:133594364
GRCh38:
ChrX:134460334
HPRT1, LOC107032760V8GPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
22.
GRCh37:
ChrX:133607479
GRCh38:
ChrX:134473449
HPRT1G40*Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Jan 8, 2021)
criteria provided, single submitter
23.
GRCh37:
ChrX:133632409
GRCh38:
ChrX:134498379
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
Benign
(Sep 17, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
ChrX:133620474-133620475
GRCh38:
ChrX:134486444-134486445
HPRT1Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, not provided
Benign
(Oct 23, 2021)
criteria provided, multiple submitters, no conflicts
25.
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
26.
GRCh37:
ChrX:133632644
GRCh38:
ChrX:134498614
HPRT1G180ELesch-Nyhan syndromePathogenicno assertion criteria provided
27.
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
28.
GRCh37:
ChrX:132670132-133634127
CCDC160, GPC3, HPRT1, MIR106A, MIR19B2, PHF6Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyPathogenic
(Jul 14, 2020)
criteria provided, single submitter
29.
GRCh37:
ChrX:133609288
GRCh38:
ChrX:134475258
HPRT1G71VLesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyPathogenic
(Aug 31, 2021)
criteria provided, single submitter
30.
GRCh37:
ChrX:133594330-133594342
GRCh38:
ChrX:134460300-134460312
LOC107032760, HPRT1M1fsPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeLikely pathogenic
(Aug 27, 2021)
criteria provided, single submitter
31.
GRCh37:
ChrX:133632417
GRCh38:
ChrX:134498387
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
32.
GRCh37:
ChrX:133620531
GRCh38:
ChrX:134486501
HPRT1G119RLesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
33.
GRCh37:
ChrX:133632668
GRCh38:
ChrX:134498638
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeLikely pathogenic
(Aug 31, 2021)
criteria provided, single submitter
34.
GRCh37:
ChrX:133607483-133607486
GRCh38:
ChrX:134473453-134473456
HPRT1I42fsPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Aug 30, 2021)
criteria provided, single submitter
35.
GRCh37:
ChrX:133632418
GRCh38:
ChrX:134498388
HPRT1Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyPathogenic
(Oct 28, 2022)
criteria provided, single submitter
36.
GRCh37:
ChrX:133627616
GRCh38:
ChrX:134493586
HPRT1A161TPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeLikely pathogenic
(Jul 14, 2021)
criteria provided, single submitter
37.
GRCh37:
ChrX:133594355-133594388
GRCh38:
ChrX:134460325-134460358
HPRT1, LOC107032760Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Dec 24, 2019)
criteria provided, single submitter
38.
GRCh37:
ChrX:133634040-133634127
HPRT1Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyPathogenic
(Aug 4, 2021)
criteria provided, single submitter
39.
GRCh37:
ChrX:133609297
GRCh38:
ChrX:134475267
HPRT1F74CLesch-Nyhan syndromePathogenic
(May 28, 2019)
criteria provided, single submitter
40.
GRCh37:
ChrX:133594322-133594415
GRCh38:
ChrX:134460292-134460385
HPRT1, LOC107032760Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Aug 4, 2021)
criteria provided, single submitter
41.
GRCh37:
ChrX:133634103
GRCh38:
ChrX:134500073
HPRT1A218GPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
42.
GRCh37:
ChrX:133634060
GRCh38:
ChrX:134500030
HPRT1H204YPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeLikely pathogenic
(Nov 6, 2018)
criteria provided, single submitter
43.
GRCh37:
ChrX:133634098
GRCh38:
ChrX:134500068
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeUncertain significance
(Aug 12, 2021)
criteria provided, single submitter
44.
GRCh37:
ChrX:133620493
GRCh38:
ChrX:134486463
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Jul 24, 2018)
criteria provided, single submitter
45.
GRCh37:
ChrX:133607369-133634127
GRCh38:
ChrX:134473339-134500097
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Aug 12, 2021)
criteria provided, single submitter
46.
GRCh37:
ChrX:133620544
GRCh38:
ChrX:134486514
HPRT1S123*Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Aug 26, 2021)
criteria provided, single submitter
47.
GRCh37:
ChrX:133632641
GRCh38:
ChrX:134498611
HPRT1V179Anot provided, Lesch-Nyhan syndromeUncertain significance
(Mar 5, 2021)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
ChrX:133594322-133634127
GRCh38:
ChrX:134460292-134500097
HPRT1, LOC107032760Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromePathogenic
(Dec 11, 2017)
criteria provided, single submitter
49.
GRCh37:
ChrX:133632713-133632714
GRCh38:
ChrX:134498683-134498684
HPRT1H204fsPartial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndromeLikely pathogenic
(Nov 22, 2017)
criteria provided, single submitter
50.
GRCh37:
ChrX:133620569
GRCh38:
ChrX:134486539
HPRT1not provided, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome,
not specified
Conflicting interpretations of pathogenicity
(Jan 15, 2021)
criteria provided, conflicting interpretations
51.
GRCh37:
ChrX:133620501
GRCh38:
ChrX:134486471
HPRT1Q109KHistory of neurodevelopmental disorder, Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency,
not specified
Uncertain significance
(Feb 9, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
ChrX:133607408
GRCh38:
ChrX:134473378
HPRT1G16VLesch-Nyhan syndromePathogenic
(Jan 6, 2017)
criteria provided, single submitter
53.
GRCh37:
ChrX:133627620
GRCh38:
ChrX:134493590
HPRT1S162Inot provided, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
ChrX:133627615
GRCh38:
ChrX:134493585
HPRT1Nephrolithiasis/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
55.
GRCh37:
ChrX:133607501-133607504
GRCh38:
ChrX:134473466-134473469
HPRT1not 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
56.
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
57.
GRCh37:
ChrX:133632419
GRCh38:
ChrX:134498389
HPRT1not provided, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
Pathogenic
(Sep 16, 2021)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
ChrX:133609219
GRCh38:
ChrX:134475189
HPRT1R48Hnot provided, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
Pathogenic
(May 28, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh38:
ChrX:134459605-134462608
HPRT1, LOC107032760Lesch-Nyhan syndromePathogenic
(Nov 1, 2001)
no assertion criteria provided
60.
GRCh37:
ChrX:133627594
GRCh38:
ChrX:134493564
HPRT1Y153*Lesch-Nyhan syndrome, HPRT PARISPathogenic; other
(Sep 27, 2017)
no assertion criteria provided
61.
GRCh37:
ChrX:133627554
GRCh38:
ChrX:134493524
HPRT1G140DLesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyUncertain significance
(Sep 2, 2021)
criteria provided, single submitter
62.
GRCh37:
ChrX:133609231
GRCh38:
ChrX:134475201
HPRT1D52GLesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
63.
GRCh37:
ChrX:133607431-133607432
GRCh38:
ChrX:134473401-134473402
HPRT1P25fsLesch-Nyhan syndrome, HPRT COORPAROOPathogenic
(Dec 15, 1991)
no assertion criteria provided
64.
GRCh37:
ChrX:133627621
GRCh38:
ChrX:134493591
HPRT1HPRT CHERMSIDE, Lesch-Nyhan syndromePathogenic
(Dec 15, 1991)
no assertion criteria provided
65.
HPRT1Lesch-Nyhan syndromePathogenic
(Jul 1, 1992)
no assertion criteria provided
66.
HPRT1Lesch-Nyhan syndromePathogenic
(Oct 24, 2013)
no assertion criteria provided
67.
HPRT1Lesch-Nyhan syndromePathogenic
(Jun 1, 1990)
no assertion criteria provided
68.
HPRT1Lesch-Nyhan syndromePathogenic
(Jun 1, 1990)
no assertion criteria provided
69.
GRCh38:
ChrX:134493178-134501176
HPRT1Lesch-Nyhan syndromePathogenic
(Jun 1, 1990)
no assertion criteria provided
70.
HPRT1Lesch-Nyhan syndromePathogenic
(Aug 2, 1984)
no assertion criteria provided
71.
HPRT1Lesch-Nyhan syndromePathogenic
(Jun 1, 1990)
no assertion criteria provided
72.
GRCh37:
ChrX:133632442
GRCh38:
ChrX:134498412
HPRT1R170*Lesch-Nyhan syndromePathogenic
(Mar 1, 2000)
no assertion criteria provided
73.
GRCh37:
ChrX:133627563
GRCh38:
ChrX:134493533
HPRT1M143KLesch-Nyhan syndromePathogenic
(Mar 1, 1989)
no assertion criteria provided
74.
GRCh37:
ChrX:133609227
GRCh38:
ChrX:134475197
HPRT1R51*Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, not provided,
Lesch-Nyhan syndrome
Pathogenic
(Oct 2, 2021)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
ChrX:133632461
GRCh38:
ChrX:134498431
HPRT1P176LLesch-Nyhan syndromePathogenic
(Jul 1, 1989)
no assertion criteria provided
76.
GRCh37:
ChrX:133607387
GRCh38:
ChrX:134473357
HPRT1Lesch-Nyhan syndromePathogenic
(Jun 1, 1990)
no assertion criteria provided
77.
GRCh37:
ChrX:133632471
GRCh38:
ChrX:134498441
HPRT1Lesch-Nyhan syndromePathogenic
(Jun 1, 1990)
no assertion criteria provided
78.
GRCh37:
ChrX:133634056-133634058
GRCh38:
ChrX:134500026-134500028
HPRT1Lesch-Nyhan syndromePathogenic
(Jun 1, 1990)
no assertion criteria provided
79.
GRCh37:
ChrX:133632719
GRCh38:
ChrX:134498689
HPRT1not providedLikely pathogenic
(May 21, 2020)
criteria provided, single submitter
80.
GRCh37:
ChrX:133609232-133609271
GRCh38:
ChrX:134475202-134475241
HPRT1M54fsLesch-Nyhan syndromePathogenic
(Jun 1, 1990)
no assertion criteria provided
81.
GRCh37:
ChrX:133624224
GRCh38:
ChrX:134490194
HPRT1Lesch-Nyhan syndromePathogenic
(Jun 1, 1990)
no assertion criteria provided
82.
GRCh37:
ChrX:133607486
GRCh38:
ChrX:134473456
HPRT1M43fsLesch-Nyhan syndromePathogenic
(Jun 1, 1990)
no assertion criteria provided
83.
GRCh37:
ChrX:133609392-133609393
GRCh38:
ChrX:134475362-134475363
HPRT1Lesch-Nyhan syndromePathogenic
(Jun 1, 1990)
no assertion criteria provided
84.
GRCh37:
ChrX:133632463
GRCh38:
ChrX:134498433
HPRT1D177YLesch-Nyhan syndromePathogenic
(Jun 1, 1990)
no assertion criteria provided
85.
GRCh37:
ChrX:133607495
GRCh38:
ChrX:134473465
HPRT1R45KLesch-Nyhan syndromePathogenic
(Jun 1, 1990)
no assertion criteria provided
86.
GRCh37:
ChrX:133634060
GRCh38:
ChrX:134500030
HPRT1H204DLesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyLikely pathogenic
(Apr 1, 2020)
criteria provided, single submitter
87.
GRCh37:
ChrX:133620501
GRCh38:
ChrX:134486471
HPRT1Q109*Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyPathogenic
(Jul 12, 2021)
criteria provided, single submitter
88.
GRCh37:
ChrX:133609287
GRCh38:
ChrX:134475257
HPRT1G71Rnot providedLikely pathogenic
(Jun 13, 2017)
criteria provided, single submitter
89.
GRCh37:
ChrX:133609285
GRCh38:
ChrX:134475255
HPRT1G70ELesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyPathogenic
(Sep 1, 2021)
criteria provided, single submitter
90.
GRCh37:
ChrX:133632700
GRCh38:
ChrX:134498670
HPRT1F199VHPRT NEW BRITON, Lesch-Nyhan syndromePathogenic; other
(Sep 26, 2017)
no assertion criteria provided
91.
GRCh37:
ChrX:133624222
GRCh38:
ChrX:134490192
HPRT1V130DHPRT MIDLAND, Lesch-Nyhan syndromePathogenic; other
(Sep 26, 2017)
no assertion criteria provided
92.
GRCh37:
ChrX:133632637-133632639
GRCh38:
ChrX:134498607-134498609
HPRT1HPRT MICHIGAN, Lesch-Nyhan syndromePathogenic
(Jul 1, 1989)
no assertion criteria provided
93.
GRCh37:
ChrX:133632685
GRCh38:
ChrX:134498655
HPRT1Lesch-Nyhan syndromePathogenic
(Jun 1, 1990)
no assertion criteria provided
94.
GRCh37:
ChrX:133609298
GRCh38:
ChrX:134475268
HPRT1F74LHPRT FLINT, Lesch-Nyhan syndromePathogenic; other
(Sep 26, 2017)
no assertion criteria provided
95.
GRCh37:
ChrX:133634093-133634113
GRCh38:
ChrX:134500063-134500083
HPRT1HPRT EVANSVILLE, Lesch-Nyhan syndromePathogenic; other
(Sep 26, 2017)
no assertion criteria provided
96.
GRCh37:
ChrX:133607483
GRCh38:
ChrX:134473453
HPRT1L41PHPRT DETROIT, Lesch-Nyhan syndromePathogenic; other
(Sep 26, 2017)
no assertion criteria provided
97.
HPRT1HPRT CONNERSVILLE, Lesch-Nyhan syndromePathogenic
(Jul 1, 1989)
no assertion criteria provided
98.
GRCh37:
ChrX:133607416-133607417
GRCh38:
ChrX:134473386-134473387
HPRT1D20*HPRT CHICAGO, Lesch-Nyhan syndromePathogenic
(Jul 1, 1989)
no assertion criteria provided
99.
GRCh37:
ChrX:133609315
GRCh38:
ChrX:134475285
HPRT1D80VLesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiencyLikely pathogenic
(Aug 30, 2021)
criteria provided, single submitter
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