Gins1 Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)

173 records found for search term Gins1

Refine Term:

Assembly:

Chr

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
13506377	CV480561	single nucleotide variant	NM_021067.5(GINS1):c.-48C>G	Combined immunodeficiency due to GINS1 deficiency [RCV000576873]\|not provided [RCV002529030]	pathogenic\|uncertain significance	20	25407773	25407773	Human	1	name , trait
13506285	CV480563	single nucleotide variant	NM_021067.5(GINS1):c.-60A>G	Combined immunodeficiency due to GINS1 deficiency [RCV000576883]	pathogenic	20	25407761	25407761	Human	1	name , trait
156035063	CV2059357	single nucleotide variant	NM_021067.5(GINS1):c.75+6G>A	not provided [RCV002796217]	uncertain significance	20	25407901	25407901	Human		name
405127009	CV2939606	single nucleotide variant	NM_021067.5(GINS1):c.76-3T>C	not provided [RCV003672053]	uncertain significance	20	25413787	25413787	Human		name
126739508	CV1018677	single nucleotide variant	NM_021067.5(GINS1):c.239+1G>T	not provided [RCV003058172]	pathogenic\|uncertain significance	20	25417203	25417203	Human		name
127312702	CV1149268	single nucleotide variant	NM_021067.5(GINS1):c.76-15G>A	not provided [RCV001481740]	likely benign	20	25413775	25413775	Human		name
151746628	CV1374982	single nucleotide variant	NM_021067.5(GINS1):c.331-3C>T	not provided [RCV001947667]	uncertain significance	20	25425208	25425208	Human		name
151859211	CV1398406	single nucleotide variant	NM_021067.5(GINS1):c.141-9T>G	not provided [RCV002017548]	likely benign\|uncertain significance	20	25417095	25417095	Human		name
152103160	CV1560584	single nucleotide variant	NM_021067.5(GINS1):c.76-16G>A	not provided [RCV002152054]	likely benign	20	25413774	25413774	Human		name
152083537	CV1576834	single nucleotide variant	NM_021067.5(GINS1):c.76-18T>C	not provided [RCV002193335]	likely benign	20	25413772	25413772	Human		name
152055327	CV1610117	single nucleotide variant	NM_021067.5(GINS1):c.76-17C>T	not provided [RCV002167360]	likely benign	20	25413773	25413773	Human		name
152074397	CV1630155	single nucleotide variant	NM_021067.5(GINS1):c.447+7A>G	not provided [RCV002169711]	likely benign\|conflicting interpretations of pathogenicity	20	25425334	25425334	Human		name
156313471	CV1913801	single nucleotide variant	NM_021067.5(GINS1):c.522+3A>G	not provided [RCV002599796]	uncertain significance	20	25441779	25441779	Human		name
155913233	CV2065896	single nucleotide variant	NM_021067.5(GINS1):c.331-9T>C	not provided [RCV002837866]	likely benign	20	25425202	25425202	Human		name
405089761	CV2862513	single nucleotide variant	NM_021067.5(GINS1):c.448-4T>C	not provided [RCV003549709]	likely benign	20	25441698	25441698	Human		name
402470109	CV2931038	single nucleotide variant	NM_021067.5(GINS1):c.523-1G>C	not provided [RCV003570139]	uncertain significance	20	25445922	25445922	Human		name
405116019	CV2951654	single nucleotide variant	NM_021067.5(GINS1):c.140+1G>A	not provided [RCV003670956]	uncertain significance	20	25413855	25413855	Human		name
405254847	CV2981900	single nucleotide variant	NM_021067.5(GINS1):c.447+1G>A	not provided [RCV003723145]	uncertain significance	20	25425328	25425328	Human		name
405254289	CV3055208	single nucleotide variant	NM_021067.5(GINS1):c.239+7T>C	not provided [RCV003722943]	likely benign	20	25417209	25417209	Human		name
405121293	CV3116588	deletion	NM_021067.5(GINS1):c.141-3del	not provided [RCV003814890]	uncertain significance	20	25417101	25417101	Human		name
405043276	CV3141283	single nucleotide variant	NM_021067.5(GINS1):c.141-8C>T	not provided [RCV003831576]	likely benign	20	25417096	25417096	Human		name
597914348	CV3740623	single nucleotide variant	NM_021067.5(GINS1):c.140+8T>G	not provided [RCV005073960]	likely benign	20	25413862	25413862	Human		name
597874438	CV3747241	single nucleotide variant	NM_021067.5(GINS1):c.523-7C>A	not provided [RCV005068925]	uncertain significance	20	25445916	25445916	Human		name
597939991	CV3818762	single nucleotide variant	NM_021067.5(GINS1):c.522+1G>T	not provided [RCV005158768]	uncertain significance	20	25441777	25441777	Human		name
127281095	CV1106911	single nucleotide variant	NM_021067.5(GINS1):c.240-13C>T	not provided [RCV001446891]	likely benign	20	25418092	25418092	Human		name
152168284	CV1547946	single nucleotide variant	NM_021067.5(GINS1):c.448-19C>T	not provided [RCV002161080]	likely benign	20	25441683	25441683	Human		name
152147797	CV1576825	duplication	NM_021067.5(GINS1):c.330+17dup	not provided [RCV002178986]	likely benign	20	25418211	25418212	Human		name
152049599	CV1585578	single nucleotide variant	NM_021067.5(GINS1):c.448-13T>A	not provided [RCV002145516]	likely benign	20	25441689	25441689	Human		name
152052842	CV1587536	single nucleotide variant	NM_021067.5(GINS1):c.447+12T>G	not provided [RCV002145894]	likely benign	20	25425339	25425339	Human		name
156231378	CV1999368	single nucleotide variant	NM_021067.5(GINS1):c.447+11C>A	not provided [RCV002667592]	likely benign	20	25425338	25425338	Human		name
156373281	CV2003684	single nucleotide variant	NM_021067.5(GINS1):c.330+11A>G	not provided [RCV002653080]	likely benign	20	25418206	25418206	Human		name
155937575	CV2114300	single nucleotide variant	NM_021067.5(GINS1):c.140+12A>G	not provided [RCV002904246]	likely benign	20	25413866	25413866	Human		name
156070763	CV2172605	single nucleotide variant	NM_021067.5(GINS1):c.523-15T>C	not provided [RCV003053710]	likely benign	20	25445908	25445908	Human		name
404981996	CV2849002	single nucleotide variant	NM_021067.5(GINS1):c.330+45G>C	not specified [RCV003488874]	benign	20	25418240	25418240	Human		name
404987042	CV3135510	single nucleotide variant	NM_021067.5(GINS1):c.141-10C>T	not provided [RCV003826805]	likely benign	20	25417094	25417094	Human		name
405219179	CV3135804	single nucleotide variant	NM_021067.5(GINS1):c.140+15A>G	not provided [RCV003824430]	uncertain significance	20	25413869	25413869	Human		name
405209476	CV3162593	single nucleotide variant	NM_021067.5(GINS1):c.330+13T>C	not provided [RCV003861892]	likely benign	20	25418208	25418208	Human		name
597914320	CV3740620	single nucleotide variant	NM_021067.5(GINS1):c.522+11T>C	not provided [RCV005073957]	likely benign	20	25441787	25441787	Human		name
597866493	CV3742465	single nucleotide variant	NM_021067.5(GINS1):c.447+17A>T	not provided [RCV005068081]	likely benign	20	25425344	25425344	Human		name
597963723	CV3754211	single nucleotide variant	NM_021067.5(GINS1):c.240-17C>A	not provided [RCV005082318]	likely benign	20	25418088	25418088	Human		name
597904079	CV3784564	single nucleotide variant	NM_021067.5(GINS1):c.141-20T>C	not provided [RCV005127615]	likely benign	20	25417084	25417084	Human		name
407457051	CV3416039	single nucleotide variant	NM_021067.5(GINS1):c.447+1901G>A	not provided [RCV004598916]	benign	20	25427228	25427228	Human		name
596946732	CV3548562	single nucleotide variant	NM_021067.5(GINS1):c.447+1932C>T	not provided [RCV004810389]	likely benign	20	25427259	25427259	Human		name
156448994	CV1944247	deletion	NM_021067.5(GINS1):c.331-10_331-9del	not provided [RCV003121103]	likely benign	20	25425200	25425201	Human		name
404983667	CV3180033	single nucleotide variant	NM_021067.5(GINS1):c.25C>T (p.Leu9=)	not provided [RCV003880835]	likely benign	20	25407845	25407845	Human		name
152127158	CV1530239	single nucleotide variant	NM_021067.5(GINS1):c.81T>C (p.Asp27=)	not provided [RCV002198832]	likely benign	20	25413795	25413795	Human		name
156376524	CV2024768	single nucleotide variant	NM_021067.5(GINS1):c.63G>A (p.Leu21=)	not provided [RCV002721969]	likely benign	20	25407883	25407883	Human		name
405170648	CV2854149	single nucleotide variant	NM_021067.5(GINS1):c.6C>G (p.Phe2Leu)	not provided [RCV003542032]	uncertain significance	20	25407826	25407826	Human		name
405004437	CV3120818	single nucleotide variant	NM_021067.5(GINS1):c.1A>G (p.Met1Val)	not provided [RCV003828421]	uncertain significance	20	25407821	25407821	Human		name
597941051	CV3769057	single nucleotide variant	NM_021067.5(GINS1):c.87C>G (p.Leu29=)	not provided [RCV005118552]	likely benign	20	25413801	25413801	Human		name
597959795	CV3811495	single nucleotide variant	NM_021067.5(GINS1):c.4T>A (p.Phe2Ile)	not provided [RCV005163342]	uncertain significance	20	25407824	25407824	Human		name
151876750	CV1344998	single nucleotide variant	NM_021067.5(GINS1):c.238C>T (p.Leu80=)	not provided [RCV001999030]	uncertain significance	20	25417201	25417201	Human		name
151737582	CV1410844	single nucleotide variant	NM_021067.5(GINS1):c.141G>A (p.Val47=)	not provided [RCV002005479]	uncertain significance	20	25417104	25417104	Human		name
152121398	CV1574465	single nucleotide variant	NM_021067.5(GINS1):c.288C>T (p.Ser96=)	not provided [RCV002175628]	likely benign	20	25418153	25418153	Human		name
152042791	CV1621754	single nucleotide variant	NM_021067.5(GINS1):c.252G>A (p.Leu84=)	GINS1-related disorder [RCV003933431]\|not provided [RCV002107969]	likely benign	20	25418117	25418117	Human	1	name , trait , alternate_id
155958056	CV1911868	single nucleotide variant	NM_021067.5(GINS1):c.255T>C (p.Leu85=)	not provided [RCV002616588]	likely benign	20	25418120	25418120	Human		name
156401518	CV1992133	single nucleotide variant	NM_021067.5(GINS1):c.19A>G (p.Met7Val)	not provided [RCV002605651]	uncertain significance	20	25407839	25407839	Human		name
156301969	CV1998418	single nucleotide variant	NM_021067.5(GINS1):c.126A>G (p.Gln42=)	not provided [RCV002671201]	likely benign	20	25413840	25413840	Human		name
156281487	CV2160997	single nucleotide variant	NM_021067.5(GINS1):c.264A>G (p.Arg88=)	not provided [RCV003027331]	likely benign	20	25418129	25418129	Human		name
156084986	CV2170503	single nucleotide variant	NM_021067.5(GINS1):c.205C>T (p.Leu69=)	not provided [RCV003038016]	likely benign	20	25417168	25417168	Human		name
156030045	CV2182052	single nucleotide variant	NM_021067.5(GINS1):c.172T>C (p.Leu58=)	not provided [RCV003036146]	likely benign	20	25417135	25417135	Human		name
156083250	CV2394935	single nucleotide variant	NM_021067.5(GINS1):c.16G>T (p.Ala6Ser)	not specified [RCV004234585]	uncertain significance	20	25407836	25407836	Human		name
405095036	CV3134712	single nucleotide variant	NM_021067.5(GINS1):c.291C>T (p.Val97=)	not provided [RCV003835058]	likely benign	20	25418156	25418156	Human		name
597759404	CV3684493	single nucleotide variant	NM_021067.5(GINS1):c.20T>C (p.Met7Thr)	not specified [RCV004925497]	uncertain significance	20	25407840	25407840	Human		name
597939708	CV3756850	single nucleotide variant	NM_021067.5(GINS1):c.261C>T (p.Ile87=)	not provided [RCV005077231]	likely benign	20	25418126	25418126	Human		name
597839707	CV3758405	single nucleotide variant	NM_021067.5(GINS1):c.219A>G (p.Arg73=)	not provided [RCV005086240]	likely benign	20	25417182	25417182	Human		name
126730922	CV1001157	single nucleotide variant	NM_021067.5(GINS1):c.29T>G (p.Ile10Ser)	not provided [RCV001310457]	uncertain significance	20	25407849	25407849	Human		name
127253953	CV1085194	single nucleotide variant	NM_021067.5(GINS1):c.516T>C (p.Asn172=)	not provided [RCV001400704]	likely benign	20	25441770	25441770	Human		name
155996541	CV2168726	single nucleotide variant	NM_021067.5(GINS1):c.56G>A (p.Gly19Glu)	not provided [RCV003017079]	uncertain significance	20	25407876	25407876	Human		name
155927692	CV2285225	single nucleotide variant	NM_021067.5(GINS1):c.94G>C (p.Val32Leu)	not specified [RCV004145426]	uncertain significance	20	25413808	25413808	Human		name
401756526	CV2687191	single nucleotide variant	NM_021067.5(GINS1):c.73A>G (p.Asn25Asp)	not specified [RCV004298139]	uncertain significance	20	25407893	25407893	Human		name
401930382	CV2827144	single nucleotide variant	NM_021067.5(GINS1):c.372T>C (p.Tyr124=)	not provided [RCV003440365]	likely benign	20	25425252	25425252	Human		name
402467294	CV2910428	single nucleotide variant	NM_021067.5(GINS1):c.400T>C (p.Leu134=)	not provided [RCV003569642]	likely benign	20	25425280	25425280	Human		name
402475493	CV2916747	single nucleotide variant	NM_021067.5(GINS1):c.501C>T (p.Val167=)	not provided [RCV003571355]	likely benign	20	25441755	25441755	Human		name
405010956	CV2933657	single nucleotide variant	NM_021067.5(GINS1):c.97C>G (p.Leu33Val)	not provided [RCV003576728]	uncertain significance	20	25413811	25413811	Human		name
405141871	CV2958715	single nucleotide variant	NM_021067.5(GINS1):c.336G>A (p.Glu112=)	not provided [RCV003673299]	likely benign	20	25425216	25425216	Human		name
405223917	CV2982732	single nucleotide variant	NM_021067.5(GINS1):c.300T>C (p.Asn100=)	not provided [RCV003681055]	likely benign	20	25418165	25418165	Human		name
405170721	CV3025783	single nucleotide variant	NM_021067.5(GINS1):c.43C>A (p.Arg15Ser)	not provided [RCV003704661]	uncertain significance	20	25407863	25407863	Human		name
405165223	CV3125331	single nucleotide variant	NM_021067.5(GINS1):c.67G>A (p.Ala23Thr)	not provided [RCV003818603]\|not specified [RCV004927950]	uncertain significance	20	25407887	25407887	Human		name
405150103	CV3152176	single nucleotide variant	NM_021067.5(GINS1):c.357A>G (p.Arg119=)	not provided [RCV003856147]	likely benign	20	25425237	25425237	Human		name
597839462	CV3737025	single nucleotide variant	NM_021067.5(GINS1):c.438A>G (p.Leu146=)	not provided [RCV005064505]	likely benign	20	25425318	25425318	Human		name
597852114	CV3747060	single nucleotide variant	NM_021067.5(GINS1):c.408T>C (p.Ile136=)	not provided [RCV005060689]	likely benign	20	25425288	25425288	Human		name
597963460	CV3753947	single nucleotide variant	NM_021067.5(GINS1):c.453G>T (p.Arg151=)	not provided [RCV005082251]	likely benign	20	25441707	25441707	Human		name
597967302	CV3794467	single nucleotide variant	NM_021067.5(GINS1):c.553C>T (p.Leu185=)	not provided [RCV005140643]	likely benign	20	25445953	25445953	Human		name
597947443	CV3800698	single nucleotide variant	NM_021067.5(GINS1):c.32G>A (p.Arg11His)	not provided [RCV005135098]	uncertain significance	20	25407852	25407852	Human		name
597940407	CV3819046	single nucleotide variant	NM_021067.5(GINS1):c.360T>A (p.Ser120=)	not provided [RCV005158857]	likely benign	20	25425240	25425240	Human		name
597895362	CV3833667	single nucleotide variant	NM_021067.5(GINS1):c.85C>T (p.Leu29Phe)	not provided [RCV005180359]	uncertain significance	20	25413799	25413799	Human		name
126730924	CV1001158	single nucleotide variant	NM_021067.5(GINS1):c.273A>T (p.Arg91Ser)	not provided [RCV001310459]	uncertain significance	20	25418138	25418138	Human		name
126759723	CV1014046	single nucleotide variant	NM_021067.5(GINS1):c.160G>A (p.Gly54Arg)	not provided [RCV001318137]	uncertain significance	20	25417123	25417123	Human		name
126748135	CV1014047	single nucleotide variant	NM_021067.5(GINS1):c.193C>T (p.Arg65Ter)	not provided [RCV001326282]	uncertain significance	20	25417156	25417156	Human		name
126742543	CV1021976	single nucleotide variant	NM_021067.5(GINS1):c.163C>T (p.Arg55Ter)	Combined immunodeficiency due to GINS1 deficiency [RCV001336533]	pathogenic	20	25417126	25417126	Human		name , trait
127305169	CV1158768	single nucleotide variant	NM_021067.5(GINS1):c.104A>G (p.Glu35Gly)	GINS1-related disorder [RCV003908839]\|not provided [RCV001516183]	benign	20	25413818	25413818	Human	1	name , trait , alternate_id
127318556	CV1158769	single nucleotide variant	NM_021067.5(GINS1):c.289G>A (p.Val97Ile)	Combined immunodeficiency due to GINS1 deficiency [RCV001702606]\|not provided [RCV001521702]\|not specified [RCV003487401]	benign	20	25418154	25418154	Human	1	name , trait
151708827	CV1383767	single nucleotide variant	NM_021067.5(GINS1):c.194G>C (p.Arg65Pro)	not provided [RCV001907547]\|not specified [RCV005350680]	uncertain significance	20	25417157	25417157	Human		name
151772315	CV1400880	single nucleotide variant	NM_021067.5(GINS1):c.281A>G (p.Tyr94Cys)	not provided [RCV002045364]\|not specified [RCV005350856]	uncertain significance	20	25418146	25418146	Human		name
151775159	CV1402507	single nucleotide variant	NM_021067.5(GINS1):c.106A>G (p.Met36Val)	not provided [RCV001929906]\|not specified [RCV004040317]	uncertain significance	20	25413820	25413820	Human		name
151728173	CV1409977	single nucleotide variant	NM_021067.5(GINS1):c.158G>A (p.Gly53Asp)	not provided [RCV001910597]	uncertain significance	20	25417121	25417121	Human		name
151740730	CV1451897	duplication	NM_021067.5(GINS1):c.515dup (p.Asn172fs)	not provided [RCV002022303]	uncertain significance	20	25441760	25441761	Human		name
151829517	CV1465529	single nucleotide variant	NM_021067.5(GINS1):c.164G>A (p.Arg55Gln)	not provided [RCV002014175]	uncertain significance	20	25417127	25417127	Human		name
151822356	CV1466081	single nucleotide variant	NM_021067.5(GINS1):c.143A>G (p.Asn48Ser)	not provided [RCV001879335]	uncertain significance	20	25417106	25417106	Human		name
151729812	CV1505995	single nucleotide variant	NM_021067.5(GINS1):c.220C>T (p.Arg74Cys)	not provided [RCV001892125]	uncertain significance	20	25417183	25417183	Human		name
152999743	CV1683310	single nucleotide variant	NM_021067.5(GINS1):c.175A>T (p.Ile59Leu)	See cases [RCV002252494]\|not provided [RCV003728055]	uncertain significance	20	25417138	25417138	Human		name
155718277	CV1772111	single nucleotide variant	NM_021067.5(GINS1):c.199T>G (p.Cys67Gly)	not provided [RCV002296587]	uncertain significance	20	25417162	25417162	Human		name
156437065	CV1936892	single nucleotide variant	NM_021067.5(GINS1):c.218G>A (p.Arg73Gln)	not provided [RCV003106594]\|not specified [RCV004244521]	uncertain significance	20	25417181	25417181	Human		name
156380708	CV1968657	single nucleotide variant	NM_021067.5(GINS1):c.181A>C (p.Thr61Pro)	not provided [RCV002603944]	uncertain significance	20	25417144	25417144	Human		name
156324755	CV1972615	single nucleotide variant	NM_021067.5(GINS1):c.284G>A (p.Gly95Asp)	not provided [RCV002600458]	uncertain significance	20	25418149	25418149	Human		name
156384797	CV1989867	single nucleotide variant	NM_021067.5(GINS1):c.149C>T (p.Ala50Val)	not provided [RCV002634539]	uncertain significance	20	25417112	25417112	Human		name
156166044	CV2045174	single nucleotide variant	NM_021067.5(GINS1):c.268C>T (p.Leu90Phe)	not provided [RCV002741714]	uncertain significance	20	25418133	25418133	Human		name
156016476	CV2061648	single nucleotide variant	NM_021067.5(GINS1):c.185T>C (p.Ile62Thr)	not provided [RCV002820399]	uncertain significance	20	25417148	25417148	Human		name
156299620	CV2069839	single nucleotide variant	NM_021067.5(GINS1):c.197A>C (p.His66Pro)	not provided [RCV002833559]	uncertain significance	20	25417160	25417160	Human		name
156118214	CV2081452	deletion	NM_021067.5(GINS1):c.405del (p.Asp135fs)	not provided [RCV002889454]	uncertain significance	20	25425285	25425285	Human		name
156108311	CV2140020	single nucleotide variant	NM_021067.5(GINS1):c.164G>T (p.Arg55Leu)	not provided [RCV003009104]\|not specified [RCV004068398]	uncertain significance	20	25417127	25417127	Human		name
156222655	CV2168438	single nucleotide variant	NM_021067.5(GINS1):c.244G>T (p.Asp82Tyr)	not provided [RCV003042783]	uncertain significance	20	25418109	25418109	Human		name
401753792	CV2716888	single nucleotide variant	NM_021067.5(GINS1):c.265G>C (p.Ala89Pro)	not provided [RCV005061211]\|not specified [RCV004330001]	uncertain significance	20	25418130	25418130	Human		name
405208784	CV2870492	single nucleotide variant	NM_021067.5(GINS1):c.277G>A (p.Glu93Lys)	not provided [RCV003552228]	uncertain significance	20	25418142	25418142	Human		name
405219690	CV2904046	single nucleotide variant	NM_021067.5(GINS1):c.245A>G (p.Asp82Gly)	not provided [RCV003568243]	uncertain significance	20	25418110	25418110	Human		name
405148966	CV2959536	single nucleotide variant	NM_021067.5(GINS1):c.295C>T (p.Pro99Ser)	not provided [RCV003673862]	uncertain significance	20	25418160	25418160	Human		name
405137581	CV2963267	single nucleotide variant	NM_021067.5(GINS1):c.134C>G (p.Ser45Cys)	not provided [RCV003668920]	uncertain significance	20	25413848	25413848	Human		name
405212602	CV2984135	single nucleotide variant	NM_021067.5(GINS1):c.196C>T (p.His66Tyr)	not provided [RCV003708910]	uncertain significance	20	25417159	25417159	Human		name
405242756	CV3077056	single nucleotide variant	NM_021067.5(GINS1):c.257G>A (p.Arg86Gln)	not provided [RCV003737597]	uncertain significance	20	25418122	25418122	Human		name
405207169	CV3162082	single nucleotide variant	NM_021067.5(GINS1):c.179C>G (p.Pro60Arg)	not provided [RCV003861576]\|not specified [RCV004917894]	uncertain significance	20	25417142	25417142	Human		name
597897755	CV3744653	single nucleotide variant	NM_021067.5(GINS1):c.139G>A (p.Val47Met)	not provided [RCV005071933]	uncertain significance	20	25413853	25413853	Human		name
597910479	CV3782143	deletion	NM_021067.5(GINS1):c.319del (p.Ala107fs)	not provided [RCV005128635]	uncertain significance	20	25418183	25418183	Human		name
597936570	CV3807669	single nucleotide variant	NM_021067.5(GINS1):c.188A>G (p.Lys63Arg)	not provided [RCV005158048]	uncertain significance	20	25417151	25417151	Human		name
597972121	CV3829465	single nucleotide variant	NM_021067.5(GINS1):c.256C>G (p.Arg86Gly)	not provided [RCV005167252]	uncertain significance	20	25418121	25418121	Human		name
597880723	CV3857343	single nucleotide variant	NM_021067.5(GINS1):c.191T>G (p.Phe64Cys)	not provided [RCV005198950]	uncertain significance	20	25417154	25417154	Human		name
13506386	CV480562	single nucleotide variant	NM_021067.5(GINS1):c.247C>T (p.Arg83Cys)	Combined immunodeficiency due to GINS1 deficiency [RCV000576879]\|GINS1-related disorder [RCV004755976]\|not provided [RCV001310458]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	20	25418112	25418112	Human	1	name , trait , alternate_id
38597142	CV964732	single nucleotide variant	NM_021067.5(GINS1):c.256C>T (p.Arg86Trp)	Combined immunodeficiency due to GINS1 deficiency [RCV001253782]\|not provided [RCV005057167]	uncertain significance	20	25418121	25418121	Human	1	name , trait
151715279	CV1354976	single nucleotide variant	NM_021067.5(GINS1):c.328G>A (p.Glu110Lys)	not provided [RCV001965109]\|not specified [RCV004043023]	uncertain significance	20	25418193	25418193	Human		name
151881156	CV1395780	single nucleotide variant	NM_021067.5(GINS1):c.535C>G (p.Arg179Gly)	not provided [RCV002036900]	uncertain significance	20	25445935	25445935	Human		name
151889689	CV1398925	single nucleotide variant	NM_021067.5(GINS1):c.436C>G (p.Leu146Val)	not provided [RCV001942859]	uncertain significance	20	25425316	25425316	Human		name
151790804	CV1402857	single nucleotide variant	NM_021067.5(GINS1):c.368C>G (p.Thr123Ser)	not provided [RCV001898160]	uncertain significance	20	25425248	25425248	Human		name
151801442	CV1405558	single nucleotide variant	NM_021067.5(GINS1):c.404A>G (p.Asp135Gly)	not provided [RCV001899098]	uncertain significance	20	25425284	25425284	Human		name
151793022	CV1411939	single nucleotide variant	NM_021067.5(GINS1):c.418A>T (p.Met140Leu)	Combined immunodeficiency due to GINS1 deficiency [RCV003134203]\|not provided [RCV001898358]\|not specified [RCV004041493]	uncertain significance	20	25425298	25425298	Human	1	name , trait
151804742	CV1432415	single nucleotide variant	NM_021067.5(GINS1):c.464A>G (p.Asp155Gly)	not provided [RCV001991273]	uncertain significance	20	25441718	25441718	Human		name
151776043	CV1439475	single nucleotide variant	NM_021067.5(GINS1):c.536G>A (p.Arg179Gln)	not provided [RCV002009299]	uncertain significance	20	25445936	25445936	Human		name
151864864	CV1477361	single nucleotide variant	NM_021067.5(GINS1):c.457C>A (p.Leu153Ile)	not provided [RCV001939032]	uncertain significance	20	25441711	25441711	Human		name
151854408	CV1481626	single nucleotide variant	NM_021067.5(GINS1):c.477T>G (p.Phe159Leu)	not provided [RCV002033591]	uncertain significance	20	25441731	25441731	Human		name
155695807	CV1778513	single nucleotide variant	NM_021067.5(GINS1):c.299A>G (p.Asn100Ser)	not provided [RCV002299610]	uncertain significance	20	25418164	25418164	Human		name
156356461	CV1901073	single nucleotide variant	NM_021067.5(GINS1):c.298A>G (p.Asn100Asp)	not provided [RCV002602199]	uncertain significance	20	25418163	25418163	Human		name
156449833	CV1942107	single nucleotide variant	NM_021067.5(GINS1):c.383T>A (p.Leu128Gln)	not provided [RCV003121961]\|not specified [RCV004245906]	uncertain significance	20	25425263	25425263	Human		name
156275388	CV1971124	single nucleotide variant	NM_021067.5(GINS1):c.316A>G (p.Met106Val)	not provided [RCV002598225]	uncertain significance	20	25418181	25418181	Human		name
156396075	CV1980469	single nucleotide variant	NM_021067.5(GINS1):c.494C>T (p.Thr165Ile)	not provided [RCV002605139]	uncertain significance	20	25441748	25441748	Human		name
156118705	CV1982640	single nucleotide variant	NM_021067.5(GINS1):c.518G>C (p.Ser173Thr)	not provided [RCV002622860]	uncertain significance	20	25441772	25441772	Human		name
156390474	CV1991160	single nucleotide variant	NM_021067.5(GINS1):c.533C>T (p.Pro178Leu)	not provided [RCV002634937]	uncertain significance	20	25445933	25445933	Human		name
155993584	CV2023437	single nucleotide variant	NM_021067.5(GINS1):c.587C>T (p.Ser196Leu)	not provided [RCV002755858]	uncertain significance	20	25445987	25445987	Human		name
156189335	CV2030198	single nucleotide variant	NM_021067.5(GINS1):c.365C>T (p.Ala122Val)	not provided [RCV002765860]	uncertain significance	20	25425245	25425245	Human		name
156018963	CV2081275	single nucleotide variant	NM_021067.5(GINS1):c.520C>T (p.Gln174Ter)	not provided [RCV002866506]	uncertain significance	20	25441774	25441774	Human		name
156076277	CV2160390	single nucleotide variant	NM_021067.5(GINS1):c.353A>G (p.Lys118Arg)	not provided [RCV003020199]	uncertain significance	20	25425233	25425233	Human		name
156146560	CV2188319	single nucleotide variant	NM_021067.5(GINS1):c.482T>C (p.Val161Ala)	not provided [RCV003056380]	uncertain significance	20	25441736	25441736	Human		name
401877034	CV2793324	single nucleotide variant	NM_021067.5(GINS1):c.451C>T (p.Arg151Trp)	not provided [RCV003669398]\|not specified [RCV004362139]	uncertain significance	20	25441705	25441705	Human		name
401902699	CV2799514	single nucleotide variant	NM_021067.5(GINS1):c.416A>G (p.Asp139Gly)	GINS1-related disorder [RCV003419007]	uncertain significance	20	25425296	25425296	Human		name , trait , alternate_id
402518067	CV2856983	single nucleotide variant	NM_021067.5(GINS1):c.424C>T (p.Pro142Ser)	not provided [RCV003575642]	uncertain significance	20	25425304	25425304	Human		name
405217586	CV2907304	single nucleotide variant	NM_021067.5(GINS1):c.490G>A (p.Gly164Ser)	not provided [RCV003567979]	uncertain significance	20	25441744	25441744	Human		name
405073998	CV2940608	single nucleotide variant	NM_021067.5(GINS1):c.379T>G (p.Ser127Ala)	not provided [RCV003659590]	uncertain significance	20	25425259	25425259	Human		name
402485928	CV2945083	single nucleotide variant	NM_021067.5(GINS1):c.442A>G (p.Ile148Val)	not provided [RCV003660071]	uncertain significance	20	25425322	25425322	Human		name
405131879	CV3021885	single nucleotide variant	NM_021067.5(GINS1):c.308G>A (p.Arg103Gln)	not provided [RCV003701769]\|not specified [RCV005353233]	uncertain significance	20	25418173	25418173	Human		name
405246234	CV3048007	single nucleotide variant	NM_021067.5(GINS1):c.371A>T (p.Tyr124Phe)	not provided [RCV003720496]	uncertain significance	20	25425251	25425251	Human		name
405211907	CV3117882	single nucleotide variant	NM_021067.5(GINS1):c.481G>A (p.Val161Ile)	not provided [RCV003823481]	uncertain significance	20	25441735	25441735	Human		name
405181894	CV3120007	single nucleotide variant	NM_021067.5(GINS1):c.307C>T (p.Arg103Ter)	not provided [RCV003820100]	uncertain significance	20	25418172	25418172	Human		name
405192719	CV3157215	single nucleotide variant	NM_021067.5(GINS1):c.457C>G (p.Leu153Val)	not provided [RCV003859904]	uncertain significance	20	25441711	25441711	Human		name
405736551	CV3254866	single nucleotide variant	NM_021067.5(GINS1):c.382C>A (p.Leu128Met)	not specified [RCV004390684]	uncertain significance	20	25425262	25425262	Human		name
597759409	CV3684495	single nucleotide variant	NM_021067.5(GINS1):c.455G>T (p.Cys152Phe)	not specified [RCV004925498]	uncertain significance	20	25441709	25441709	Human		name
597861635	CV3770248	single nucleotide variant	NM_021067.5(GINS1):c.568G>T (p.Val190Phe)	not provided [RCV005106101]	uncertain significance	20	25445968	25445968	Human		name
597923650	CV3772460	single nucleotide variant	NM_021067.5(GINS1):c.343A>G (p.Asn115Asp)	not provided [RCV005115610]	uncertain significance	20	25425223	25425223	Human		name
597898620	CV3782590	single nucleotide variant	NM_021067.5(GINS1):c.373A>G (p.Met125Val)	not provided [RCV005126815]	uncertain significance	20	25425253	25425253	Human		name
597955429	CV3796232	single nucleotide variant	NM_021067.5(GINS1):c.482T>A (p.Val161Asp)	not provided [RCV005137049]	uncertain significance	20	25441736	25441736	Human		name
597965207	CV3848291	single nucleotide variant	NM_021067.5(GINS1):c.488A>G (p.Asp163Gly)	not provided [RCV005194171]	uncertain significance	20	25441742	25441742	Human		name
597913205	CV3850935	single nucleotide variant	NM_021067.5(GINS1):c.334G>C (p.Glu112Gln)	not provided [RCV005203903]	uncertain significance	20	25425214	25425214	Human		name
13506385	CV480564	single nucleotide variant	NM_021067.5(GINS1):c.455G>A (p.Cys152Tyr)	Combined immunodeficiency due to GINS1 deficiency [RCV000576872]	pathogenic\|likely pathogenic	20	25441709	25441709	Human	1	name , trait
8637233	CV92459	single nucleotide variant	NM_021067.3(GINS1):c.415G>A (p.Asp139Asn)	Malignant melanoma [RCV000072557]	not provided	20	25425295	25425295	Human		name
38597140	CV964730	indel	NM_021067.5(GINS1):c.52delinsCA (p.Glu18fs)	Combined immunodeficiency due to GINS1 deficiency [RCV001253780]	uncertain significance	20	25407872	25407872	Human		name , trait
151711548	CV1373788	microsatellite	NM_021067.5(GINS1):c.365_366insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGATCTCTTGC (p.Ala122_Thr123insAlaGlyArgGlyGlySerArgLeuTer)	not provided [RCV001889490]	uncertain significance	20	25425231	25425232	Human		name

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message