ClinVar for MedGen (Select 9721) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25008651.	Single allele GRCh37: ChrX:133650679-133650681 GRCh38: ChrX:134516649-134516651			Lesch-Nyhan syndrome	Uncertain significance (May 2, 2023)	criteria provided, single submitter
Select item 24316952.	NM_000194.3(HPRT1):c.580G>T (p.Asp194Tyr) GRCh37: ChrX:133632685 GRCh38: ChrX:134498655	HPRT1	D194Y	Lesch-Nyhan syndrome	Likely pathogenic (Jun 16, 2022)	criteria provided, single submitter
Select item 24225683.	NC_000023.10:g.(?_133627564)_(133629109_?)del GRCh37: ChrX:133627564-133629109	HPRT1		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Pathogenic (Aug 26, 2022)	criteria provided, single submitter
Select item 24225674.	NC_000023.10:g.(?_133627518)_(133628822_?)del GRCh37: ChrX:133627518-133628822	HPRT1		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 24225665.	NC_000023.10:g.(?_132670152)_(133634107_?)dup GRCh37: ChrX:132670152-133634107	CCDC160, GPC3, HPRT1, MIR106A, MIR19B2, PHF6		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Uncertain significance (Sep 16, 2021)	criteria provided, single submitter
Select item 24154496.	NM_000194.3(HPRT1):c.610-5dup GRCh37: ChrX:133634046-133634047 GRCh38: ChrX:134500016-134500017	HPRT1		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Benign (Aug 11, 2022)	criteria provided, single submitter
Select item 22026617.	NM_000194.3(HPRT1):c.319-16T>A GRCh37: ChrX:133620479 GRCh38: ChrX:134486449	HPRT1		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Likely benign (Jun 16, 2022)	criteria provided, single submitter
Select item 22012718.	NM_000194.3(HPRT1):c.609+20T>C GRCh37: ChrX:133632734 GRCh38: ChrX:134498704	HPRT1		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Benign (Sep 23, 2022)	criteria provided, single submitter
Select item 21968849.	NM_000194.3(HPRT1):c.134+18A>G GRCh37: ChrX:133607513 GRCh38: ChrX:134473483	HPRT1		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 217002510.	NM_000194.3(HPRT1):c.610-6_610-5del GRCh37: ChrX:133634047-133634048 GRCh38: ChrX:134500017-134500018	HPRT1		Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	Benign (Jul 19, 2022)	criteria provided, single submitter
Select item 213872411.	NM_000194.3(HPRT1):c.611A>T (p.His204Leu) GRCh37: ChrX:133634061 GRCh38: ChrX:134500031	HPRT1	H204L	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Pathogenic (Jul 21, 2022)	criteria provided, single submitter
Select item 213872312.	NM_000194.3(HPRT1):c.333_334del (p.Asp113fs) GRCh37: ChrX:133620509-133620510 GRCh38: ChrX:134486479-134486480	HPRT1	D113fs	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Pathogenic (Nov 19, 2021)	criteria provided, single submitter
Select item 213872213.	NM_000194.3(HPRT1):c.289_290del (p.Val97fs) GRCh37: ChrX:133609364-133609365 GRCh38: ChrX:134475334-134475335	HPRT1	V97fs	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, Lesch-Nyhan syndrome	Pathogenic (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213872014.	NM_000194.3(HPRT1):c.212del (p.Gly71fs) GRCh37: ChrX:133609283 GRCh38: ChrX:134475253	HPRT1	G71fs	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Pathogenic (Aug 12, 2022)	criteria provided, single submitter
Select item 213477915.	NM_000194.3(HPRT1):c.34G>T (p.Asp12Tyr) GRCh37: ChrX:133607395 GRCh38: ChrX:134473365	HPRT1	D12Y	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 206744316.	NM_000194.3(HPRT1):c.370A>G (p.Thr124Ala) GRCh37: ChrX:133620546 GRCh38: ChrX:134486516	HPRT1	T124A	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 204406117.	NM_000194.3(HPRT1):c.139G>C (p.Glu47Gln) GRCh37: ChrX:133609215 GRCh38: ChrX:134475185	HPRT1	E47Q	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 204333818.	NM_000194.3(HPRT1):c.28-14del GRCh37: ChrX:133607375 GRCh38: ChrX:134473345	HPRT1		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Benign (Oct 19, 2022)	criteria provided, single submitter
Select item 202994819.	NM_000194.3(HPRT1):c.117T>C (p.His39=) GRCh37: ChrX:133607478 GRCh38: ChrX:134473448	HPRT1		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 202888920.	NM_000194.3(HPRT1):c.615_620dup (p.Val207_Ile208insCysVal) GRCh37: ChrX:133634061-133634062 GRCh38: ChrX:134500031-134500032	HPRT1		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter
Select item 200039621.	NM_000194.3(HPRT1):c.615T>C (p.Val205=) GRCh37: ChrX:133634065 GRCh38: ChrX:134500035	HPRT1		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 196593122.	NM_000194.3(HPRT1):c.403-12C>A GRCh37: ChrX:133627526 GRCh38: ChrX:134493496	HPRT1		Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	Benign (Mar 19, 2022)	criteria provided, single submitter
Select item 191804323.	NM_000194.3(HPRT1):c.204C>G (p.Leu68=) GRCh37: ChrX:133609280 GRCh38: ChrX:134475250	HPRT1		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Likely benign (Oct 2, 2022)	criteria provided, single submitter
Select item 190968424.	NM_000194.3(HPRT1):c.385-5T>C GRCh37: ChrX:133624213 GRCh38: ChrX:134490183	HPRT1		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Likely benign (Aug 26, 2022)	criteria provided, single submitter
Select item 180509325.	NM_000194.3(HPRT1):c.568G>T (p.Gly190Ter) GRCh37: ChrX:133632673 GRCh38: ChrX:134498643	HPRT1	G190*	Lesch-Nyhan syndrome	Pathogenic (Oct 19, 2020)	criteria provided, single submitter
Select item 171537126.	NM_000194.3(HPRT1):c.184A>G (p.Ile62Val) GRCh37: ChrX:133609260 GRCh38: ChrX:134475230	HPRT1	I62V	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 170010627.	NM_000194.3:c.-147_384del	HPRT1		Lesch-Nyhan syndrome	Pathogenic	criteria provided, single submitter
Select item 170001828.	NM_000194.3(HPRT1):c.1A>G (p.Met1Val) GRCh37: ChrX:133594342 GRCh38: ChrX:134460312	HPRT1, LOC107032760	M1V	Lesch-Nyhan syndrome	Pathogenic (Jul 14, 2022)	criteria provided, single submitter
Select item 169545729.	NM_000194.3(HPRT1):c.319-8_319-7dup GRCh37: ChrX:133620474-133620475 GRCh38: ChrX:134486444-134486445	HPRT1		not provided, Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	Likely benign (Jul 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 168588530.	NM_000194.3(HPRT1):c.233T>C (p.Leu78Pro) GRCh37: ChrX:133609309 GRCh38: ChrX:134475279	HPRT1	L78P	Lesch-Nyhan syndrome	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168534931.	NM_000194.3(HPRT1):c.384+1G>T GRCh37: ChrX:133620561 GRCh38: ChrX:134486531	HPRT1		Lesch-Nyhan syndrome	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168534832.	NM_000194.3(HPRT1):c.134+1G>C GRCh37: ChrX:133607496 GRCh38: ChrX:134473466	HPRT1		Lesch-Nyhan syndrome	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 163253333.	NM_000194.3(HPRT1):c.609+14T>G GRCh37: ChrX:133632728 GRCh38: ChrX:134498698	HPRT1		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 162601634.	NM_000194.3(HPRT1):c.522T>C (p.Tyr174=) GRCh37: ChrX:133632456 GRCh38: ChrX:134498426	HPRT1		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Benign (Sep 5, 2022)	criteria provided, single submitter
Select item 161710135.	NM_000194.3(HPRT1):c.159G>A (p.Val53=) GRCh37: ChrX:133609235 GRCh38: ChrX:134475205	HPRT1		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 160277636.	NM_000194.3(HPRT1):c.505C>G (p.Pro169Ala) GRCh37: ChrX:133632439 GRCh38: ChrX:134498409	HPRT1	P169A	Nephrolithiasis/nephrocalcinosis, Inborn genetic diseases, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Benign/Likely benign (Dec 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 160078237.	NM_000194.3(HPRT1):c.508C>A (p.Arg170=) GRCh37: ChrX:133632442 GRCh38: ChrX:134498412	HPRT1		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Benign (Oct 3, 2022)	criteria provided, single submitter
Select item 154723938.	NM_000194.3(HPRT1):c.69C>T (p.Cys23=) GRCh37: ChrX:133607430 GRCh38: ChrX:134473400	HPRT1		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Likely benign (Sep 9, 2021)	criteria provided, single submitter
Select item 151205139.	NM_000194.3(HPRT1):c.191C>A (p.Ala64Asp) 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
Select item 149764540.	NM_000194.3(HPRT1):c.546A>G (p.Glu182=) GRCh37: ChrX:133632651 GRCh38: ChrX:134498621	HPRT1		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Uncertain significance (Oct 14, 2021)	criteria provided, single submitter
Select item 148884041.	NM_000194.3(HPRT1):c.599G>A (p.Arg200Lys) 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
Select item 147517742.	NM_000194.3(HPRT1):c.532+1_532+2del GRCh37: ChrX:133632466-133632467 GRCh38: ChrX:134498436-134498437	HPRT1		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Likely pathogenic (Apr 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146123543.	NM_000194.3(HPRT1):c.53A>G (p.Asp18Gly) 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
Select item 146021344.	NC_000023.10:g.(?_133632400)_(133634107_?)del GRCh37: ChrX:133632400-133634107	HPRT1		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Pathogenic (Oct 27, 2021)	criteria provided, single submitter
Select item 145993045.	NM_000194.3(HPRT1):c.430C>T (p.Gln144Ter) GRCh37: ChrX:133627565 GRCh38: ChrX:134493535	HPRT1	Q144*	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Pathogenic (Nov 3, 2021)	criteria provided, single submitter
Select item 145680946.	NM_000194.3(HPRT1):c.556_557del (p.Lys186fs) 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
Select item 145429547.	NM_000194.3(HPRT1):c.11_17del (p.Arg4fs) GRCh37: ChrX:133594349-133594355 GRCh38: ChrX:134460319-134460325	HPRT1, LOC107032760	R4fs	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Pathogenic (Dec 19, 2021)	criteria provided, single submitter
Select item 145234948.	NM_000194.3(HPRT1):c.472dup (p.Val158fs) GRCh37: ChrX:133627605-133627606 GRCh38: ChrX:134493575-134493576	HPRT1	V158fs	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Pathogenic (Jul 17, 2021)	criteria provided, single submitter
Select item 141075349.	NM_000194.3(HPRT1):c.23T>G (p.Val8Gly) 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
Select item 139012550.	NM_000194.3(HPRT1):c.118G>T (p.Gly40Ter) GRCh37: ChrX:133607479 GRCh38: ChrX:134473449	HPRT1	G40*	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Pathogenic (Jan 8, 2021)	criteria provided, single submitter
Select item 128535251.	NM_000194.3(HPRT1):c.486-11G>A 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
Select item 128444652.	NM_000194.3(HPRT1):c.319-7dup GRCh37: ChrX:133620474-133620475 GRCh38: ChrX:134486444-134486445	HPRT1		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, not provided	Benign (Oct 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 120627453.	NM_000194.3(HPRT1):c.77A>C (p.Asn26Thr) 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
Select item 118446954.	NM_000194.3(HPRT1):c.539G>A (p.Gly180Glu) GRCh37: ChrX:133632644 GRCh38: ChrX:134498614	HPRT1	G180E	Lesch-Nyhan syndrome	Pathogenic	no assertion criteria provided
Select item 116475755.	NM_000194.3(HPRT1):c.384+19A>G 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
Select item 107661356.	NC_000023.10:g.(?_132670132)_(133634127_?)del GRCh37: ChrX:132670132-133634127	CCDC160, GPC3, HPRT1, MIR106A, MIR19B2, PHF6		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Pathogenic (Jul 14, 2020)	criteria provided, single submitter
Select item 107431557.	NM_000194.3(HPRT1):c.212G>T (p.Gly71Val) GRCh37: ChrX:133609288 GRCh38: ChrX:134475258	HPRT1	G71V	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 106619058.	NM_000194.3(HPRT1):c.-12_1del (p.Met1fs) GRCh37: ChrX:133594330-133594342 GRCh38: ChrX:134460300-134460312	HPRT1, LOC107032760	M1fs	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Likely pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 103944259.	NM_000194.3(HPRT1):c.486-3C>G GRCh37: ChrX:133632417 GRCh38: ChrX:134498387	HPRT1		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 101169960.	NM_000194.3(HPRT1):c.355G>A (p.Gly119Arg) 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
Select item 96023861.	NM_000194.3(HPRT1):c.564del (p.Val188_Val189insTer) GRCh37: ChrX:133632668 GRCh38: ChrX:134498638	HPRT1		Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	Likely pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 86122662.	NM_000194.3(HPRT1):c.124_127del (p.Ile42fs) 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
Select item 85772763.	NM_000194.3(HPRT1):c.486-2A>G GRCh37: ChrX:133632418 GRCh38: ChrX:134498388	HPRT1		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 84794064.	NM_000194.3(HPRT1):c.481G>A (p.Ala161Thr) 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
Select item 84263365.	NM_000194.3(HPRT1):c.22_27+28del 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
Select item 83074966.	NC_000023.11:g.(?_134500010)_(134500097_?)del GRCh37: ChrX:133634040-133634127	HPRT1		Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	Pathogenic (Aug 4, 2021)	criteria provided, single submitter
Select item 80408667.	NM_000194.3(HPRT1):c.221T>G (p.Phe74Cys) GRCh37: ChrX:133609297 GRCh38: ChrX:134475267	HPRT1	F74C	Lesch-Nyhan syndrome	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 66283368.	NC_000023.11:g.(?_134460292)_(134460385_?)del 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
Select item 65668869.	NM_000194.3(HPRT1):c.653C>G (p.Ala218Gly) 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
Select item 65451470.	NM_000194.3(HPRT1):c.610C>T (p.His204Tyr) 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
Select item 65261771.	NM_000194.3(HPRT1):c.648del (p.Lys215_Tyr216insTer) GRCh37: ChrX:133634098 GRCh38: ChrX:134500068	HPRT1		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 64595672.	NM_000194.3(HPRT1):c.319-2A>G GRCh37: ChrX:133620493 GRCh38: ChrX:134486463	HPRT1		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Pathogenic (Jul 24, 2018)	criteria provided, single submitter
Select item 64315373.	NC_000023.11:g.(?_134473339)_(134500097_?)del 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
Select item 58229374.	NM_000194.3(HPRT1):c.368C>G (p.Ser123Ter) GRCh37: ChrX:133620544 GRCh38: ChrX:134486514	HPRT1	S123*	Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	Pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 56025675.	NM_000194.3(HPRT1):c.536T>C (p.Val179Ala) GRCh37: ChrX:133632641 GRCh38: ChrX:134498611	HPRT1	V179A	not provided, Lesch-Nyhan syndrome	Uncertain significance (Mar 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 52679876.	NC_000023.11:g.(?_134460292)_(134500097_?)del 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
Select item 52679777.	NM_000194.3(HPRT1):c.609dup (p.His204fs) 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
Select item 43544678.	NM_000194.3(HPRT1):c.384+9C>T GRCh37: ChrX:133620569 GRCh38: ChrX:134486539	HPRT1		not specified, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Conflicting interpretations of pathogenicity (Jan 15, 2021)	criteria provided, conflicting interpretations
Select item 43544579.	NM_000194.3(HPRT1):c.325C>A (p.Gln109Lys) GRCh37: ChrX:133620501 GRCh38: ChrX:134486471	HPRT1	Q109K	not specified, History of neurodevelopmental disorder, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Uncertain significance (Feb 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43112980.	NM_000194.3(HPRT1):c.47G>T (p.Gly16Val) GRCh37: ChrX:133607408 GRCh38: ChrX:134473378	HPRT1	G16V	Lesch-Nyhan syndrome	Pathogenic (Jan 6, 2017)	criteria provided, single submitter
Select item 28268581.	NM_000194.3(HPRT1):c.485G>T (p.Ser162Ile) GRCh37: ChrX:133627620 GRCh38: ChrX:134493590	HPRT1	S162I	Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, not provided	Uncertain significance (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 19805782.	NM_000194.3(HPRT1):c.480C>T (p.Val160=) GRCh37: ChrX:133627615 GRCh38: ChrX:134493585	HPRT1		Nephrolithiasis/nephrocalcinosis, Inborn genetic diseases, Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, not specified	Benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19503583.	NM_000194.3(HPRT1):c.134+6_134+9del GRCh37: ChrX:133607501-133607504 GRCh38: ChrX:134473466-134473469	HPRT1		Inborn 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
Select item 16718184.	NM_000194.3(HPRT1):c.212dup (p.Tyr72fs) 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
Select item 9260485.	NM_000194.3(HPRT1):c.486-1G>A GRCh37: ChrX:133632419 GRCh38: ChrX:134498389	HPRT1		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, not provided	Pathogenic (Sep 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 2998586.	NM_000194.3(HPRT1):c.143G>A (p.Arg48His) GRCh37: ChrX:133609219 GRCh38: ChrX:134475189	HPRT1	R48H	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, not provided	Pathogenic (May 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1008387.	NM_000194.2(HPRT1):c.-707_27+2236del GRCh38: ChrX:134459605-134462608	HPRT1, LOC107032760		Lesch-Nyhan syndrome	Pathogenic (Nov 1, 2001)	no assertion criteria provided
Select item 1008288.	NM_000194.2(HPRT1):c.459T>G (p.Tyr153Ter) GRCh37: ChrX:133627594 GRCh38: ChrX:134493564	HPRT1	Y153*	Lesch-Nyhan syndrome, HPRT PARIS	Pathogenic; other (Sep 27, 2017)	no assertion criteria provided
Select item 1008089.	NM_000194.2(HPRT1):c.419G>A (p.Gly140Asp) 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
Select item 1007990.	NM_000194.2(HPRT1):c.155A>G (p.Asp52Gly) 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
Select item 1007891.	HPRT COORPAROO GRCh37: ChrX:133607431-133607432 GRCh38: ChrX:134473401-134473402	HPRT1	P25fs	Lesch-Nyhan syndrome, HPRT COORPAROO	Pathogenic (Dec 15, 1991)	no assertion criteria provided
Select item 1007792.	HPRT CHERMSIDE GRCh37: ChrX:133627621 GRCh38: ChrX:134493591	HPRT1		HPRT CHERMSIDE, Lesch-Nyhan syndrome	Pathogenic (Dec 15, 1991)	no assertion criteria provided
Select item 1007293.	HPRT, EX2-3DUP, IVS1DEL	HPRT1		Lesch-Nyhan syndrome	Pathogenic (Jul 1, 1992)	no assertion criteria provided
Select item 1007194.	HPRT, INV/DEL, EX6-9	HPRT1		Lesch-Nyhan syndrome	Pathogenic (Oct 24, 2013)	no assertion criteria provided
Select item 1006995.	NC_000023.11:g.(?_134460165)_(134500668_?)de. GRCh38: ChrX:134460165-134500668	HPRT1, LOC107032760		Lesch-Nyhan syndrome	Pathogenic (Jun 1, 1990)	no assertion criteria provided
Select item 1006896.	HPRT, EX9DEL	HPRT1		Lesch-Nyhan syndrome	Pathogenic (Jun 1, 1990)	no assertion criteria provided
Select item 1006797.	NC_000023.11:g.(134493178_134493182)_(134501172_134501176)del GRCh38: ChrX:134493178-134501176	HPRT1		Lesch-Nyhan syndrome	Pathogenic (Jun 1, 1990)	no assertion criteria provided
Select item 1006698.	HPRT, EX4-9DEL	HPRT1		Lesch-Nyhan syndrome	Pathogenic (Aug 2, 1984)	no assertion criteria provided
Select item 1006599.	HPRT, EX2DEL	HPRT1		Lesch-Nyhan syndrome	Pathogenic (Jun 1, 1990)	no assertion criteria provided
Select item 10063100.	NM_000194.3(HPRT1):c.508C>T (p.Arg170Ter) GRCh37: ChrX:133632442 GRCh38: ChrX:134498412	HPRT1	R170*	Lesch-Nyhan syndrome	Pathogenic (Mar 1, 2000)	no assertion criteria provided

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