ClinVar for Gene (Select 3251) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3393223	NM_000194.3(HPRT1):c.598del (p.Arg200fs)	HPRT1 (R200fs)	Deletion (frameshift variant)	Lesch-Nyhan syndrome	GLikely pathogenic
Select item 3391637	NM_000194.3(HPRT1):c.610-3T>A	HPRT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3391437	NM_000194.3(HPRT1):c.440T>C (p.Leu147Pro)	HPRT1 (L147P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3390280	NM_000194.3(HPRT1):c.512G>A (p.Ser171Asn)	HPRT1 (S171N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3385016	NM_000194.3(HPRT1):c.521A>G (p.Tyr174Cys)	HPRT1 (Y174C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3382453	NM_000194.3(HPRT1):c.485G>A (p.Ser162Asn)	HPRT1 (S162N)	Single nucleotide variant (missense variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GUncertain significance
Select item 3367307	NM_000194.3(HPRT1):c.384+5G>T	HPRT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	IGBP1, IGSF1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3359395	NM_000194.3(HPRT1):c.431A>G (p.Gln144Arg)	HPRT1 (Q144R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3345657	NM_000194.3(HPRT1):c.617G>T (p.Cys206Phe)	HPRT1 (C206F)	Single nucleotide variant (missense variant)	HPRT1-related disorder	GUncertain significance
Select item 3341395	NM_000194.3(HPRT1):c.197G>T (p.Cys66Phe)	HPRT1 (C66F)	Single nucleotide variant (missense variant)	Lesch-Nyhan syndrome	GUncertain significance
Select item 3255603	NM_000194.3(HPRT1):c.416C>A (p.Thr139Asn)	HPRT1 (T139N)	Single nucleotide variant (missense variant)	Lesch-Nyhan syndrome	GLikely pathogenic
Select item 3252507	NM_000194.3(HPRT1):c.532+1G>A	HPRT1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3251036	NM_000194.3(HPRT1):c.337G>T (p.Asp113Tyr)	HPRT1 (D113Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3245602	NC_000023.10:g.(?_132670152)_(133634107_?)del	CCDC160, GPC3 +4 more	Deletion	Wilms tumor 1	GPathogenic
Select item 3243693	NC_000023.10:g.(?_133620475)_(133620580_?)del	HPRT1	Deletion	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3069198	NM_000194.3(HPRT1):c.70A>T (p.Ile24Leu)	HPRT1 (I24L)	Single nucleotide variant (missense variant)	Lesch-Nyhan syndrome	GUncertain significance
Select item 3062520	GRCh37/hg19 Xq26.2-26.3(chrX:133425092-133669804)	HPRT1, PHF6	Copy number gain	not specified	GUncertain significance
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3033937	NM_000194.3(HPRT1):c.319-9_319-7dup	HPRT1	Duplication (intron variant)	HPRT1-related disorder	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A4, ERCC6L +488 more	Copy number gain	not provided	GPathogenic
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)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2945000	NM_000194.3(HPRT1):c.420C>A (p.Gly140=)	HPRT1	Single nucleotide variant (synonymous variant)	Lesch-Nyhan syndrome +1 more	GBenign
Select item 2944603	NM_000194.3(HPRT1):c.402+8C>G	HPRT1	Single nucleotide variant (intron variant)	Lesch-Nyhan syndrome +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)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2939507	NM_000194.3(HPRT1):c.384+13A>G	HPRT1	Single nucleotide variant (intron variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2939042	NM_000194.3(HPRT1):c.318+9A>G	HPRT1	Single nucleotide variant (intron variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2938875	NM_000194.3(HPRT1):c.533-11A>G	HPRT1	Single nucleotide variant (intron variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2938874	NM_000194.3(HPRT1):c.174A>T (p.Gly58=)	HPRT1	Single nucleotide variant (synonymous variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2938649	NM_000194.3(HPRT1):c.384+11T>C	HPRT1	Single nucleotide variant (intron variant)	Lesch-Nyhan syndrome +1 more	GLikely benign
Select item 2937931	NM_000194.3(HPRT1):c.134+12C>G	HPRT1	Single nucleotide variant (intron variant)	Lesch-Nyhan syndrome +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)	HPRT1, LOC107032760 +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)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GLikely benign
Select item 2924491	NM_000194.3(HPRT1):c.28-19A>G	HPRT1	Single nucleotide variant (intron variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GLikely benign
Select item 2924319	NM_000194.3(HPRT1):c.27+19C>G	HPRT1, LOC107032760 +1 more	Single nucleotide variant (intron variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GLikely benign
Select item 2923210	NM_000194.3(HPRT1):c.261A>G (p.Arg87=)	HPRT1	Single nucleotide variant (synonymous variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GLikely benign
Select item 2922891	NM_000194.3(HPRT1):c.319-17_319-16insCT	HPRT1	Insertion (intron variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GLikely benign
Select item 2922505	NM_000194.3(HPRT1):c.28-15A>G	HPRT1	Single nucleotide variant (intron variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GLikely benign
Select item 2921795	NM_000194.3(HPRT1):c.27+7A>G	HPRT1, LOC107032760 +1 more	Single nucleotide variant (intron variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GLikely benign
Select item 2921770	NM_000194.3(HPRT1):c.42del (p.Glu14fs)	HPRT1 (E14fs)	Deletion (frameshift variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GPathogenic
Select item 2685720	GRCh37/hg19 Xq26.1-26.3(chrX:129627661-135812056)x1	ADGRG4, ARHGAP36 +46 more	Copy number loss	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	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 2661476	NM_000194.3(HPRT1):c.318+3362C>T	HPRT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2630587	NM_000194.3(HPRT1):c.533-5T>G	HPRT1	Single nucleotide variant (intron variant)	HPRT1-related disorder	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
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

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