ClinVar for MedGen (Select 9721) - ClinVar

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Items: 100

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16954571.	NM_000194.3(HPRT1):c.319-8_319-7dup 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
Select item 16858852.	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 16853493.	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 16853484.	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 16325335.	NM_000194.3(HPRT1):c.609+14T>G GRCh37: ChrX:133632728 GRCh38: ChrX:134498698	HPRT1		Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 16260166.	NM_000194.3(HPRT1):c.522T>C (p.Tyr174=) GRCh37: ChrX:133632456 GRCh38: ChrX:134498426	HPRT1		Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	Benign (Sep 5, 2022)	criteria provided, single submitter
Select item 16171017.	NM_000194.3(HPRT1):c.159G>A (p.Val53=) GRCh37: ChrX:133609235 GRCh38: ChrX:134475205	HPRT1		Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 16027768.	NM_000194.3(HPRT1):c.505C>G (p.Pro169Ala) 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
Select item 16007829.	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 154723910.	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 151205111.	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 149764512.	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 148884013.	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 147517714.	NM_000194.3(HPRT1):c.532+1_532+2del 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
Select item 146123515.	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 146021316.	NC_000023.10:g.(?_133632400)_(133634107_?)del GRCh37: ChrX:133632400-133634107	HPRT1		Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	Pathogenic (Oct 27, 2021)	criteria provided, single submitter
Select item 145993017.	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 145680918.	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 145429519.	NM_000194.3(HPRT1):c.11_17del (p.Arg4fs) 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
Select item 145234920.	NM_000194.3(HPRT1):c.472dup (p.Val158fs) 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
Select item 141075321.	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 139012522.	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 128535223.	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 128444624.	NM_000194.3(HPRT1):c.319-7dup 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
Select item 120627425.	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 118446926.	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 116475727.	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 107661328.	NC_000023.10:g.(?_132670132)_(133634127_?)del 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
Select item 107431529.	NM_000194.3(HPRT1):c.212G>T (p.Gly71Val) GRCh37: ChrX:133609288 GRCh38: ChrX:134475258	HPRT1	G71V	Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 106619030.	NM_000194.3(HPRT1):c.-12_1del (p.Met1fs) 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
Select item 103944231.	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 101169932.	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 96023833.	NM_000194.3(HPRT1):c.564del (p.Val188_Val189insTer) GRCh37: ChrX:133632668 GRCh38: ChrX:134498638	HPRT1		Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Likely pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 86122634.	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 85772735.	NM_000194.3(HPRT1):c.486-2A>G GRCh37: ChrX:133632418 GRCh38: ChrX:134498388	HPRT1		Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 84794036.	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 84263337.	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 83074938.	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 80408639.	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 66283340.	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 65668841.	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 65451442.	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 65261743.	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 64595644.	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 64315345.	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 58229346.	NM_000194.3(HPRT1):c.368C>G (p.Ser123Ter) GRCh37: ChrX:133620544 GRCh38: ChrX:134486514	HPRT1	S123*	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome	Pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 56025647.	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 52679848.	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 52679749.	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 43544650.	NM_000194.3(HPRT1):c.384+9C>T 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
Select item 43544551.	NM_000194.3(HPRT1):c.325C>A (p.Gln109Lys) 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
Select item 43112952.	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 28268553.	NM_000194.3(HPRT1):c.485G>T (p.Ser162Ile) 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
Select item 19805754.	NM_000194.3(HPRT1):c.480C>T (p.Val160=) 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
Select item 19503555.	NM_000194.3(HPRT1):c.134+6_134+9del 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
Select item 16718156.	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 9260457.	NM_000194.3(HPRT1):c.486-1G>A 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
Select item 2998558.	NM_000194.3(HPRT1):c.143G>A (p.Arg48His) 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
Select item 1008359.	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 1008260.	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 1008061.	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 1007962.	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 1007863.	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 1007764.	HPRT CHERMSIDE GRCh37: ChrX:133627621 GRCh38: ChrX:134493591	HPRT1		HPRT CHERMSIDE, Lesch-Nyhan syndrome	Pathogenic (Dec 15, 1991)	no assertion criteria provided
Select item 1007265.	HPRT, EX2-3DUP, IVS1DEL	HPRT1		Lesch-Nyhan syndrome	Pathogenic (Jul 1, 1992)	no assertion criteria provided
Select item 1007166.	HPRT, INV/DEL, EX6-9	HPRT1		Lesch-Nyhan syndrome	Pathogenic (Oct 24, 2013)	no assertion criteria provided
Select item 1006967.	HPRT, DEL	HPRT1		Lesch-Nyhan syndrome	Pathogenic (Jun 1, 1990)	no assertion criteria provided
Select item 1006868.	HPRT, EX9DEL	HPRT1		Lesch-Nyhan syndrome	Pathogenic (Jun 1, 1990)	no assertion criteria provided
Select item 1006769.	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 1006670.	HPRT, EX4-9DEL	HPRT1		Lesch-Nyhan syndrome	Pathogenic (Aug 2, 1984)	no assertion criteria provided
Select item 1006571.	HPRT, EX2DEL	HPRT1		Lesch-Nyhan syndrome	Pathogenic (Jun 1, 1990)	no assertion criteria provided
Select item 1006372.	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
Select item 1006273.	NM_000194.3(HPRT1):c.428T>A (p.Met143Lys) GRCh37: ChrX:133627563 GRCh38: ChrX:134493533	HPRT1	M143K	Lesch-Nyhan syndrome	Pathogenic (Mar 1, 1989)	no assertion criteria provided
Select item 1006074.	NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter) 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
Select item 1005875.	NM_000194.3(HPRT1):c.527C>T (p.Pro176Leu) GRCh37: ChrX:133632461 GRCh38: ChrX:134498431	HPRT1	P176L	Lesch-Nyhan syndrome	Pathogenic (Jul 1, 1989)	no assertion criteria provided
Select item 1005776.	NM_000194.3(HPRT1):c.28-2A>T GRCh37: ChrX:133607387 GRCh38: ChrX:134473357	HPRT1		Lesch-Nyhan syndrome	Pathogenic (Jun 1, 1990)	no assertion criteria provided
Select item 1005677.	NM_000194.3(HPRT1):c.532+5G>A GRCh37: ChrX:133632471 GRCh38: ChrX:134498441	HPRT1		Lesch-Nyhan syndrome	Pathogenic (Jun 1, 1990)	no assertion criteria provided
Select item 1005578.	NM_000194.3(HPRT1):c.610-4_610-2delinsTTT GRCh37: ChrX:133634056-133634058 GRCh38: ChrX:134500026-134500028	HPRT1		Lesch-Nyhan syndrome	Pathogenic (Jun 1, 1990)	no assertion criteria provided
Select item 1005479.	NM_000194.3(HPRT1):c.609+5G>A GRCh37: ChrX:133632719 GRCh38: ChrX:134498689	HPRT1		not provided	Likely pathogenic (May 21, 2020)	criteria provided, single submitter
Select item 1005380.	NM_000194.3(HPRT1):c.160_199del (p.Met54fs) GRCh37: ChrX:133609232-133609271 GRCh38: ChrX:134475202-134475241	HPRT1	M54fs	Lesch-Nyhan syndrome	Pathogenic (Jun 1, 1990)	no assertion criteria provided
Select item 1005281.	NM_000194.3(HPRT1):c.392del (p.Val130_Leu131insTer) GRCh37: ChrX:133624224 GRCh38: ChrX:134490194	HPRT1		Lesch-Nyhan syndrome	Pathogenic (Jun 1, 1990)	no assertion criteria provided
Select item 1005182.	NM_000194.3(HPRT1):c.126del (p.Met43fs) GRCh37: ChrX:133607486 GRCh38: ChrX:134473456	HPRT1	M43fs	Lesch-Nyhan syndrome	Pathogenic (Jun 1, 1990)	no assertion criteria provided
Select item 1005083.	NM_000194.3(HPRT1):c.317_318del GRCh37: ChrX:133609392-133609393 GRCh38: ChrX:134475362-134475363	HPRT1		Lesch-Nyhan syndrome	Pathogenic (Jun 1, 1990)	no assertion criteria provided
Select item 1004984.	NM_000194.3(HPRT1):c.529G>T (p.Asp177Tyr) GRCh37: ChrX:133632463 GRCh38: ChrX:134498433	HPRT1	D177Y	Lesch-Nyhan syndrome	Pathogenic (Jun 1, 1990)	no assertion criteria provided
Select item 1004885.	NM_000194.3(HPRT1):c.134G>A (p.Arg45Lys) GRCh37: ChrX:133607495 GRCh38: ChrX:134473465	HPRT1	R45K	Lesch-Nyhan syndrome	Pathogenic (Jun 1, 1990)	no assertion criteria provided
Select item 1004786.	NM_000194.3(HPRT1):c.610C>G (p.His204Asp) 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
Select item 1004687.	NM_000194.3(HPRT1):c.325C>T (p.Gln109Ter) GRCh37: ChrX:133620501 GRCh38: ChrX:134486471	HPRT1	Q109*	Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	Pathogenic (Jul 12, 2021)	criteria provided, single submitter
Select item 1004588.	NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg) GRCh37: ChrX:133609287 GRCh38: ChrX:134475257	HPRT1	G71R	not provided	Likely pathogenic (Jun 13, 2017)	criteria provided, single submitter
Select item 1004489.	NM_000194.2(HPRT1):c.209G>A (p.Gly70Glu) GRCh37: ChrX:133609285 GRCh38: ChrX:134475255	HPRT1	G70E	Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 1004390.	NM_000194.2(HPRT1):c.595T>G (p.Phe199Val) GRCh37: ChrX:133632700 GRCh38: ChrX:134498670	HPRT1	F199V	HPRT NEW BRITON, Lesch-Nyhan syndrome	Pathogenic; other (Sep 26, 2017)	no assertion criteria provided
Select item 1004091.	NM_000194.2(HPRT1):c.389T>A (p.Val130Asp) GRCh37: ChrX:133624222 GRCh38: ChrX:134490192	HPRT1	V130D	HPRT MIDLAND, Lesch-Nyhan syndrome	Pathogenic; other (Sep 26, 2017)	no assertion criteria provided
Select item 1003992.	HPRT MICHIGAN GRCh37: ChrX:133632637-133632639 GRCh38: ChrX:134498607-134498609	HPRT1		HPRT MICHIGAN, Lesch-Nyhan syndrome	Pathogenic (Jul 1, 1989)	no assertion criteria provided
Select item 1003793.	NM_000194.2(HPRT1):c.580G>A (p.Asp194Asn) GRCh37: ChrX:133632685 GRCh38: ChrX:134498655	HPRT1		Lesch-Nyhan syndrome	Pathogenic (Jun 1, 1990)	no assertion criteria provided
Select item 1003694.	NM_000194.2(HPRT1):c.222C>A (p.Phe74Leu) GRCh37: ChrX:133609298 GRCh38: ChrX:134475268	HPRT1	F74L	HPRT FLINT, Lesch-Nyhan syndrome	Pathogenic; other (Sep 26, 2017)	no assertion criteria provided
Select item 1003595.	NM_000194.2(HPRT1):c.643_*6del21 (p.Lys215fs) GRCh37: ChrX:133634093-133634113 GRCh38: ChrX:134500063-134500083	HPRT1		HPRT EVANSVILLE, Lesch-Nyhan syndrome	Pathogenic; other (Sep 26, 2017)	no assertion criteria provided
Select item 1003496.	NM_000194.2(HPRT1):c.122T>C (p.Leu41Pro) GRCh37: ChrX:133607483 GRCh38: ChrX:134473453	HPRT1	L41P	HPRT DETROIT, Lesch-Nyhan syndrome	Pathogenic; other (Sep 26, 2017)	no assertion criteria provided
Select item 1003397.	HPRT CONNERSVILLE	HPRT1		HPRT CONNERSVILLE, Lesch-Nyhan syndrome	Pathogenic (Jul 1, 1989)	no assertion criteria provided
Select item 1003298.	HPRT CHICAGO GRCh37: ChrX:133607416-133607417 GRCh38: ChrX:134473386-134473387	HPRT1	D20*	HPRT CHICAGO, Lesch-Nyhan syndrome	Pathogenic (Jul 1, 1989)	no assertion criteria provided
Select item 1003099.	NM_000194.2(HPRT1):c.239A>T (p.Asp80Val) 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

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