ClinVar for MedGen (Select 9721) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2953449	NM_000194.3(HPRT1):c.27+19C>T	HPRT1, LOC107032760 +1 more	Single nucleotide variant (intron variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2952745	NM_000194.3(HPRT1):c.319-19_319-18insGT	HPRT1	Insertion (intron variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2952670	NM_000194.3(HPRT1):c.391T>C (p.Leu131=)	HPRT1	Single nucleotide variant (synonymous variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2952125	NM_000194.3(HPRT1):c.21C>T (p.Gly7=)	HPRT1, LOC107032760 +1 more	Single nucleotide variant (synonymous variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2952004	NM_000194.3(HPRT1):c.533-12G>T	HPRT1	Single nucleotide variant (intron variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2951598	NM_000194.3(HPRT1):c.27+12G>A	HPRT1, LOC107032760 +1 more	Single nucleotide variant (intron variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2950525	NM_000194.3(HPRT1):c.161T>C (p.Met54Thr)	HPRT1 (M54T)	Single nucleotide variant (missense variant)	Lesch-Nyhan syndrome +1 more	GUncertain significance
Select item 2949828	NM_000194.3(HPRT1):c.319-16T>G	HPRT1	Single nucleotide variant (intron variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2949706	NM_000194.3(HPRT1):c.485+15T>A	HPRT1	Single nucleotide variant (intron variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2948793	NM_000194.3(HPRT1):c.336G>A (p.Gly112=)	HPRT1	Single nucleotide variant (synonymous variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2948629	NM_000194.3(HPRT1):c.610-4A>G	HPRT1	Single nucleotide variant (intron variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2948610	NM_000194.3(HPRT1):c.519A>C (p.Gly173=)	HPRT1	Single nucleotide variant (synonymous variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2948537	NM_000194.3(HPRT1):c.532+18T>C	HPRT1	Single nucleotide variant (intron variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2947197	NM_000194.3(HPRT1):c.177C>T (p.Gly59=)	HPRT1	Single nucleotide variant (synonymous variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2947144	NM_000194.3(HPRT1):c.57T>G (p.Leu19=)	HPRT1	Single nucleotide variant (synonymous variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2946569	NM_000194.3(HPRT1):c.24C>G (p.Val8=)	HPRT1, LOC107032760 +1 more	Single nucleotide variant (synonymous variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2945200	NM_000194.3(HPRT1):c.318+18A>C	HPRT1	Single nucleotide variant (intron variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GLikely benign
Select item 2945000	NM_000194.3(HPRT1):c.420C>A (p.Gly140=)	HPRT1	Single nucleotide variant (synonymous variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GBenign
Select item 2944603	NM_000194.3(HPRT1):c.402+8C>G	HPRT1	Single nucleotide variant (intron variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GLikely benign
Select item 2943288	NM_000194.3(HPRT1):c.319-7T>C	HPRT1	Single nucleotide variant (intron variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2943278	NM_000194.3(HPRT1):c.533-13T>C	HPRT1	Single nucleotide variant (intron variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2943165	NM_000194.3(HPRT1):c.627T>G (p.Ser209Arg)	HPRT1 (S209R)	Single nucleotide variant (missense variant)	Lesch-Nyhan syndrome +1 more	GUncertain significance
Select item 2942444	NM_000194.3(HPRT1):c.486-12dup	HPRT1	Duplication (intron variant)	Lesch-Nyhan syndrome +1 more	GBenign
Select item 2942150	NM_000194.3(HPRT1):c.200_201dup (p.Leu68fs)	HPRT1 (L68fs)	Microsatellite (frameshift variant)	Lesch-Nyhan syndrome +1 more	GPathogenic
Select item 2941124	NM_000194.3(HPRT1):c.77A>G (p.Asn26Ser)	HPRT1 (N26S)	Single nucleotide variant (missense variant)	Lesch-Nyhan syndrome +1 more	GUncertain significance
Select item 2939555	NM_000194.3(HPRT1):c.28-13A>G	HPRT1	Single nucleotide variant (intron variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GLikely benign
Select item 2939507	NM_000194.3(HPRT1):c.384+13A>G	HPRT1	Single nucleotide variant (intron variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GLikely benign
Select item 2939042	NM_000194.3(HPRT1):c.318+9A>G	HPRT1	Single nucleotide variant (intron variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GLikely benign
Select item 2938875	NM_000194.3(HPRT1):c.533-11A>G	HPRT1	Single nucleotide variant (intron variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GLikely benign
Select item 2938874	NM_000194.3(HPRT1):c.174A>T (p.Gly58=)	HPRT1	Single nucleotide variant (synonymous variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GLikely benign
Select item 2938649	NM_000194.3(HPRT1):c.384+11T>C	HPRT1	Single nucleotide variant (intron variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GLikely benign
Select item 2937931	NM_000194.3(HPRT1):c.134+12C>G	HPRT1	Single nucleotide variant (intron variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GLikely benign
Select item 2937275	NM_000194.3(HPRT1):c.532+20T>C	HPRT1	Single nucleotide variant (intron variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2936964	NM_000194.3(HPRT1):c.319-18_319-17insG	HPRT1	Insertion (intron variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2936937	NM_000194.3(HPRT1):c.231C>T (p.Asp77=)	HPRT1	Single nucleotide variant (synonymous variant)	Lesch-Nyhan syndrome +1 more	GBenign
Select item 2936883	NM_000194.3(HPRT1):c.610-5del	HPRT1	Deletion (intron variant)	Lesch-Nyhan syndrome +1 more	GBenign
Select item 2936286	NM_000194.3(HPRT1):c.22G>A (p.Val8Ile)	LOC129929047, HPRT1 +1 more (V8I)	Single nucleotide variant (missense variant)	Lesch-Nyhan syndrome +1 more	GUncertain significance
Select item 2934589	NM_000194.3(HPRT1):c.492G>C (p.Leu164=)	HPRT1	Single nucleotide variant (synonymous variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2932075	NM_000194.3(HPRT1):c.504C>T (p.Thr168=)	HPRT1	Single nucleotide variant (synonymous variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2931390	NM_000194.3(HPRT1):c.403-17G>A	HPRT1	Single nucleotide variant (intron variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2931264	NM_000194.3(HPRT1):c.399G>A (p.Val133=)	HPRT1	Single nucleotide variant (synonymous variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2930782	NM_000194.3(HPRT1):c.258T>C (p.Asn86=)	HPRT1	Single nucleotide variant (synonymous variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2929917	NM_000194.3(HPRT1):c.141A>G (p.Glu47=)	HPRT1	Single nucleotide variant (synonymous variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2929708	NM_000194.3(HPRT1):c.417T>C (p.Thr139=)	HPRT1	Single nucleotide variant (synonymous variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2929321	NM_000194.3(HPRT1):c.403-7T>A	HPRT1	Single nucleotide variant (intron variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2928796	NM_000194.3(HPRT1):c.21C>A (p.Gly7=)	HPRT1, LOC107032760 +1 more	Single nucleotide variant (synonymous variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2928350	NM_000194.3(HPRT1):c.102G>A (p.Arg34=)	HPRT1	Single nucleotide variant (synonymous variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2926636	NM_000194.3(HPRT1):c.319-19_319-18insG	HPRT1	Insertion (intron variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2926261	NM_000194.3(HPRT1):c.318+7A>G	HPRT1	Single nucleotide variant (intron variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2925689	NM_000194.3(HPRT1):c.648C>G (p.Tyr216Ter)	HPRT1 (Y216*)	Single nucleotide variant (nonsense)	Lesch-Nyhan syndrome +1 more	GUncertain significance
Select item 2925688	NM_000194.3(HPRT1):c.569G>A (p.Gly190Glu)	HPRT1 (G190E)	Single nucleotide variant (missense variant)	Lesch-Nyhan syndrome +1 more	GUncertain significance
Select item 2925687	NM_000194.3(HPRT1):c.403G>T (p.Asp135Tyr)	HPRT1 (D135Y)	Single nucleotide variant (missense variant)	Lesch-Nyhan syndrome +1 more	GPathogenic
Select item 2925686	NM_000194.3(HPRT1):c.402+1229A>G	HPRT1	Single nucleotide variant (intron variant)	Lesch-Nyhan syndrome +1 more	GLikely pathogenic
Select item 2925151	NM_000194.3(HPRT1):c.319-17T>G	HPRT1	Single nucleotide variant (intron variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2924491	NM_000194.3(HPRT1):c.28-19A>G	HPRT1	Single nucleotide variant (intron variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2924319	NM_000194.3(HPRT1):c.27+19C>G	HPRT1, LOC107032760 +1 more	Single nucleotide variant (intron variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2923210	NM_000194.3(HPRT1):c.261A>G (p.Arg87=)	HPRT1	Single nucleotide variant (synonymous variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2922891	NM_000194.3(HPRT1):c.319-17_319-16insCT	HPRT1	Insertion (intron variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2922505	NM_000194.3(HPRT1):c.28-15A>G	HPRT1	Single nucleotide variant (intron variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2921795	NM_000194.3(HPRT1):c.27+7A>G	HPRT1, LOC107032760 +1 more	Single nucleotide variant (intron variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2921770	NM_000194.3(HPRT1):c.42del (p.Glu14fs)	HPRT1 (E14fs)	Deletion (frameshift variant)	Lesch-Nyhan syndrome +1 more	GPathogenic
Select item 2664053	NM_000194.3(HPRT1):c.28-2A>G	HPRT1	Single nucleotide variant (splice acceptor variant)	Lesch-Nyhan syndrome	GLikely pathogenic
Select item 2637426	NM_000194.3(HPRT1):c.319-18T>G	HPRT1	Single nucleotide variant (intron variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +2 more	GLikely benign
Select item 2431695	NM_000194.3(HPRT1):c.580G>T (p.Asp194Tyr)	HPRT1 (D194Y)	Single nucleotide variant (missense variant)	Lesch-Nyhan syndrome	GLikely pathogenic
Select item 2422568	NC_000023.10:g.(?_133627564)_(133629109_?)del	HPRT1	Deletion	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GPathogenic
Select item 2422567	NC_000023.10:g.(?_133627518)_(133628822_?)del	HPRT1	Deletion	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GPathogenic
Select item 2422566	NC_000023.10:g.(?_132670152)_(133634107_?)dup	CCDC160, GPC3 +4 more	Duplication	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GUncertain significance
Select item 2415449	NM_000194.3(HPRT1):c.610-5dup	HPRT1	Duplication (intron variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GBenign
Select item 2202661	NM_000194.3(HPRT1):c.319-16T>A	HPRT1	Single nucleotide variant (intron variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GLikely benign
Select item 2201271	NM_000194.3(HPRT1):c.609+20T>C	HPRT1	Single nucleotide variant (intron variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GBenign
Select item 2196884	NM_000194.3(HPRT1):c.134+18A>G	HPRT1	Single nucleotide variant (intron variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GLikely benign
Select item 2170025	NM_000194.3(HPRT1):c.610-6_610-5del	HPRT1	Deletion (intron variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GBenign
Select item 2138724	NM_000194.3(HPRT1):c.611A>T (p.His204Leu)	HPRT1 (H204L)	Single nucleotide variant (missense variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GPathogenic
Select item 2138723	NM_000194.3(HPRT1):c.333_334del (p.Asp113fs)	HPRT1 (D113fs)	Deletion (frameshift variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GPathogenic
Select item 2138722	NM_000194.3(HPRT1):c.289_290del (p.Val97fs)	HPRT1 (V97fs)	Deletion (frameshift variant)	Lesch-Nyhan syndrome +1 more	GPathogenic
Select item 2138720	NM_000194.3(HPRT1):c.212del (p.Gly71fs)	HPRT1 (G71fs)	Deletion (frameshift variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GPathogenic
Select item 2134779	NM_000194.3(HPRT1):c.34G>T (p.Asp12Tyr)	HPRT1 (D12Y)	Single nucleotide variant (missense variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GUncertain significance
Select item 2067443	NM_000194.3(HPRT1):c.370A>G (p.Thr124Ala)	HPRT1 (T124A)	Single nucleotide variant (missense variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GUncertain significance
Select item 2044061	NM_000194.3(HPRT1):c.139G>C (p.Glu47Gln)	HPRT1 (E47Q)	Single nucleotide variant (missense variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GUncertain significance
Select item 2043338	NM_000194.3(HPRT1):c.28-14del	HPRT1	Deletion (intron variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GBenign
Select item 2029948	NM_000194.3(HPRT1):c.117T>C (p.His39=)	HPRT1	Single nucleotide variant (synonymous variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2028889	NM_000194.3(HPRT1):c.615_620dup (p.Val207_Ile208insCysVal)	HPRT1	Duplication (inframe_insertion)	Lesch-Nyhan syndrome +1 more	GUncertain significance
Select item 2000396	NM_000194.3(HPRT1):c.615T>C (p.Val205=)	HPRT1	Single nucleotide variant (synonymous variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GLikely benign
Select item 1965931	NM_000194.3(HPRT1):c.403-12C>A	HPRT1	Single nucleotide variant (intron variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GBenign
Select item 1918043	NM_000194.3(HPRT1):c.204C>G (p.Leu68=)	HPRT1	Single nucleotide variant (synonymous variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GLikely benign
Select item 1909684	NM_000194.3(HPRT1):c.385-5T>C	HPRT1	Single nucleotide variant (intron variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GLikely benign
Select item 1805093	NM_000194.3(HPRT1):c.568G>T (p.Gly190Ter)	HPRT1 (G190*)	Single nucleotide variant (nonsense)	Lesch-Nyhan syndrome	GPathogenic
Select item 1715371	NM_000194.3(HPRT1):c.184A>G (p.Ile62Val)	HPRT1 (I62V)	Single nucleotide variant (missense variant)	Lesch-Nyhan syndrome +1 more	GUncertain significance
Select item 1700106	NM_000194.3:c.-147_384del	HPRT1	Deletion	Lesch-Nyhan syndrome	GPathogenic
Select item 1700018	NM_000194.3(HPRT1):c.1A>G (p.Met1Val)	HPRT1, LOC107032760 +1 more (M1V)	Single nucleotide variant (missense variant +1 more)	Lesch-Nyhan syndrome	GPathogenic
Select item 1695457	NM_000194.3(HPRT1):c.319-8_319-7dup	HPRT1	Duplication (intron variant)	Lesch-Nyhan syndrome +2 more	GLikely benign
Select item 1685885	NM_000194.3(HPRT1):c.233T>C (p.Leu78Pro)	HPRT1 (L78P)	Single nucleotide variant (missense variant)	Lesch-Nyhan syndrome	GPathogenic
Select item 1685349	NM_000194.3(HPRT1):c.384+1G>T	HPRT1	Single nucleotide variant (splice donor variant)	Lesch-Nyhan syndrome	GLikely pathogenic
Select item 1685348	NM_000194.3(HPRT1):c.134+1G>C	HPRT1	Single nucleotide variant (splice donor variant)	Lesch-Nyhan syndrome	GLikely pathogenic
Select item 1632533	NM_000194.3(HPRT1):c.609+14T>G	HPRT1	Single nucleotide variant (intron variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GLikely benign
Select item 1626016	NM_000194.3(HPRT1):c.522T>C (p.Tyr174=)	HPRT1	Single nucleotide variant (synonymous variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GBenign
Select item 1617101	NM_000194.3(HPRT1):c.159G>A (p.Val53=)	HPRT1	Single nucleotide variant (synonymous variant)	HPRT1-related condition +2 more	GLikely benign
Select item 1602776	NM_000194.3(HPRT1):c.505C>G (p.Pro169Ala)	HPRT1 (P169A)	Single nucleotide variant (missense variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +3 more	GBenign/Likely benign
Select item 1600782	NM_000194.3(HPRT1):c.508C>A (p.Arg170=)	HPRT1	Single nucleotide variant (synonymous variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GBenign
Select item 1547239	NM_000194.3(HPRT1):c.69C>T (p.Cys23=)	HPRT1	Single nucleotide variant (synonymous variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GLikely benign

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