Elovl5 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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133 records found for search term Elovl5

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
151716314	CV1334654	single nucleotide variant	NM_021814.5(ELOVL5):c.*77A>G	not provided [RCV001843611]	likely benign	6	53269050	53269050	Human		name
150508856	CV1229747	single nucleotide variant	NM_021814.5(ELOVL5):c.58+96G>A	not provided [RCV001636326]	benign	6	53295546	53295546	Human		name
150495176	CV1282880	single nucleotide variant	NM_021814.5(ELOVL5):c.58+57C>A	not provided [RCV001717326]	benign	6	53295585	53295585	Human		name
156336149	CV1966912	single nucleotide variant	NM_021814.5(ELOVL5):c.59-11T>A	not provided [RCV002601041]	likely benign\|uncertain significance	6	53291974	53291974	Human		name
156208869	CV2040502	duplication	NM_021814.5(ELOVL5):c.59-11dup	not provided [RCV002790163]	benign	6	53291973	53291974	Human		name
156213454	CV2080237	single nucleotide variant	NM_021814.5(ELOVL5):c.325-5C>T	not provided [RCV002875573]	likely benign	6	53275266	53275266	Human		name
405176096	CV2864670	single nucleotide variant	NM_021814.5(ELOVL5):c.756+2T>C	not provided [RCV003542771]	uncertain significance	6	53270591	53270591	Human		name
405216037	CV3055593	single nucleotide variant	NM_021814.5(ELOVL5):c.496+8T>C	not provided [RCV003732667]	likely benign	6	53275082	53275082	Human		name
408385217	CV3526018	single nucleotide variant	NM_021814.5(ELOVL5):c.324+1G>A	not specified [RCV004766929]	uncertain significance	6	53276178	53276178	Human		name
597927625	CV3819876	single nucleotide variant	NM_021814.5(ELOVL5):c.757-7A>G	not provided [RCV005156576]	likely benign	6	53269277	53269277	Human		name
150513793	CV1210688	deletion	NM_021814.5(ELOVL5):c.497-62del	not provided [RCV001598729]	benign	6	53273406	53273406	Human		name
150514450	CV1212014	single nucleotide variant	NM_021814.5(ELOVL5):c.58+207A>T	not provided [RCV001599083]	benign	6	53295435	53295435	Human		name
150516146	CV1228253	single nucleotide variant	NM_021814.5(ELOVL5):c.58+893G>A	not provided [RCV001639059]	benign	6	53294749	53294749	Human		name
150489836	CV1239014	single nucleotide variant	NM_021814.5(ELOVL5):c.58+864A>G	not provided [RCV001654582]	benign	6	53294778	53294778	Human		name
150476667	CV1279301	single nucleotide variant	NM_021814.5(ELOVL5):c.324+49A>T	not provided [RCV001714018]	benign	6	53276130	53276130	Human		name
151864236	CV1336801	single nucleotide variant	NM_021814.5(ELOVL5):c.622-12C>T	not provided [RCV002034842]	benign\|likely benign	6	53270739	53270739	Human		name
152979700	CV1675733	single nucleotide variant	NM_021814.5(ELOVL5):c.59-169C>T	not provided [RCV002244324]	likely benign	6	53292132	53292132	Human		name
155264948	CV1704498	single nucleotide variant	NM_021814.5(ELOVL5):c.496+84T>G	not provided [RCV002284714]	likely benign	6	53275006	53275006	Human		name
155268856	CV1705683	single nucleotide variant	NM_021814.5(ELOVL5):c.324+32A>G	not provided [RCV002286290]	likely benign	6	53276147	53276147	Human		name
156222524	CV1960321	single nucleotide variant	NM_021814.5(ELOVL5):c.325-13C>T	not provided [RCV002575582]	likely benign	6	53275274	53275274	Human		name
156173091	CV1968443	single nucleotide variant	NM_021814.5(ELOVL5):c.247-19G>T	not provided [RCV002594831]	likely benign	6	53276275	53276275	Human		name
156336592	CV1976874	single nucleotide variant	NM_021814.5(ELOVL5):c.496+15C>T	not provided [RCV002601064]	likely benign	6	53275075	53275075	Human		name
156032605	CV2037036	single nucleotide variant	NM_021814.5(ELOVL5):c.324+12T>C	not provided [RCV002781172]	benign	6	53276167	53276167	Human		name
404981669	CV3006390	single nucleotide variant	NM_021814.5(ELOVL5):c.247-20G>A	not provided [RCV003691271]	likely benign	6	53276276	53276276	Human		name
405137013	CV3125341	single nucleotide variant	NM_021814.5(ELOVL5):c.247-12C>G	not provided [RCV003816448]	likely benign	6	53276268	53276268	Human		name
150330465	CV1171603	single nucleotide variant	NM_021814.5(ELOVL5):c.58+1350C>A	not provided [RCV001538080]	benign	6	53294292	53294292	Human		name
150492502	CV1238188	single nucleotide variant	NM_021814.5(ELOVL5):c.246+110T>G	not provided [RCV001655034]	benign	6	53291666	53291666	Human		name
150455628	CV1246943	single nucleotide variant	NM_021814.5(ELOVL5):c.324+217C>T	not provided [RCV001668711]	benign	6	53275962	53275962	Human		name
150471146	CV1248163	single nucleotide variant	NM_021814.5(ELOVL5):c.497-118C>T	not provided [RCV001671200]	benign	6	53273462	53273462	Human		name
150471388	CV1248216	single nucleotide variant	NM_021814.5(ELOVL5):c.58+1041A>G	not provided [RCV001671253]	benign	6	53294601	53294601	Human		name
150469329	CV1259640	single nucleotide variant	NM_021814.5(ELOVL5):c.325-102C>T	not provided [RCV001683941]	benign	6	53275363	53275363	Human		name
150448209	CV1275507	single nucleotide variant	NM_021814.5(ELOVL5):c.247-150T>G	not provided [RCV001707962]	benign	6	53276406	53276406	Human		name
150462591	CV1276102	single nucleotide variant	NM_021814.5(ELOVL5):c.58+1207C>T	ELOVL5-related disorder [RCV003968496]\|not provided [RCV001710047]	benign	6	53294435	53294435	Human	1	name , trait , alternate_id
150496137	CV1283180	single nucleotide variant	NM_021814.5(ELOVL5):c.757-233T>C	not provided [RCV001717551]	benign	6	53269503	53269503	Human		name
150535606	CV1311945	duplication	NM_021814.5(ELOVL5):c.757-181dup	not provided [RCV001779755]	likely benign	6	53269450	53269451	Human		name
155795143	CV1858944	single nucleotide variant	NM_021814.5(ELOVL5):c.58+1262G>A	Myoepithelial tumor [RCV002463909]	uncertain significance	6	53294380	53294380	Human	1	name
405292073	CV3221209	single nucleotide variant	NM_021814.5(ELOVL5):c.58+1229A>G	ELOVL5-related disorder [RCV003964291]	benign	6	53294413	53294413	Human		name , trait , alternate_id
150508208	CV1229585	single nucleotide variant	NM_021814.5(ELOVL5):c.246+3932C>T	not provided [RCV001636163]	benign	6	53287844	53287844	Human		name
150477544	CV1240045	single nucleotide variant	NM_021814.5(ELOVL5):c.246+3729A>C	not provided [RCV001652223]	benign	6	53288047	53288047	Human		name
150500013	CV1283175	single nucleotide variant	NM_021814.5(ELOVL5):c.246+3816T>C	not provided [RCV001718305]	benign	6	53287960	53287960	Human		name
150535865	CV1312074	single nucleotide variant	NM_021814.5(ELOVL5):c.246+4089C>T	not provided [RCV001779885]	likely benign	6	53287687	53287687	Human		name
155268679	CV1705506	single nucleotide variant	NM_021814.5(ELOVL5):c.246+3863C>G	not provided [RCV002286112]	likely benign	6	53287913	53287913	Human		name
155797234	CV1863232	single nucleotide variant	NM_021814.5(ELOVL5):c.246+3859C>G	Spinocerebellar ataxia type 38 [RCV002470506]	uncertain significance	6	53287917	53287917	Human	1	name
401925536	CV2820435	single nucleotide variant	NM_021814.5(ELOVL5):c.246+3865G>T	Inborn genetic diseases [RCV004978866]\|not provided [RCV003436591]	likely benign\|uncertain significance	6	53287911	53287911	Human	1	name
405739842	CV3248681	single nucleotide variant	NM_021814.5(ELOVL5):c.246+3853G>A	Inborn genetic diseases [RCV004380384]	uncertain significance	6	53287923	53287923	Human	1	name
597667485	CV3667565	single nucleotide variant	NM_021814.5(ELOVL5):c.246+3874G>A	Inborn genetic diseases [RCV004979709]	uncertain significance	6	53287902	53287902	Human	1	name
597667495	CV3667567	single nucleotide variant	NM_021814.5(ELOVL5):c.246+3886C>T	Inborn genetic diseases [RCV004979711]	uncertain significance	6	53287890	53287890	Human	1	name
598210141	CV4007971	single nucleotide variant	NM_021814.5(ELOVL5):c.246+3856G>A	Spinocerebellar ataxia type 38 [RCV005400285]	uncertain significance	6	53287920	53287920	Human	1	name
14979458	CV678968	single nucleotide variant	NM_021814.5(ELOVL5):c.246+3891C>T	ELOVL5-related disorder [RCV004758732]\|Spinocerebellar ataxia type 38 [RCV000851529]\|not provided [RCV001813804]	benign\|likely benign\|not provided	6	53287885	53287885	Human	1	name , trait , alternate_id
155264991	CV1704541	microsatellite	NM_021814.5(ELOVL5):c.324+25TAT[4]	not provided [RCV002284757]	likely benign	6	53276145	53276146	Human		name
150535494	CV1311908	deletion	NM_021814.5(ELOVL5):c.497-63_497-62del	not provided [RCV001779718]	likely benign	6	53273406	53273407	Human		name
10450056	CV214787	duplication	NM_021814.5(ELOVL5):c.757-40_757-37dup	not provided [RCV000202372]	benign\|not provided	6	53269306	53269307	Human		name
404994689	CV3132601	single nucleotide variant	NM_021814.5(ELOVL5):c.96T>C (p.Tyr32=)	not provided [RCV003827540]	likely benign	6	53291926	53291926	Human		name
405024779	CV3139437	single nucleotide variant	NM_021814.5(ELOVL5):c.30C>T (p.Thr10=)	not provided [RCV003830080]	likely benign	6	53295670	53295670	Human		name
28882175	CV859539	single nucleotide variant	NM_021814.5(ELOVL5):c.8A>G (p.His3Arg)	Inborn genetic diseases [RCV004978003]\|not provided [RCV001091111]	uncertain significance	6	53295692	53295692	Human	1	name
156077430	CV2170864	single nucleotide variant	NM_021814.5(ELOVL5):c.132A>G (p.Leu44=)	not provided [RCV003020236]	likely benign	6	53291890	53291890	Human		name
150464078	CV1273246	deletion	NM_021814.5(ELOVL5):c.621+299_621+308del	not provided [RCV001694003]	benign	6	53272912	53272921	Human		name
150550940	CV1308818	single nucleotide variant	NM_021814.5(ELOVL5):c.861G>T (p.Leu287=)	not provided [RCV001766322]	benign\|likely benign	6	53269166	53269166	Human		name
156419905	CV1967688	single nucleotide variant	NM_021814.5(ELOVL5):c.303C>T (p.Thr101=)	not provided [RCV002613152]	likely benign	6	53276200	53276200	Human		name
156124606	CV2036251	single nucleotide variant	NM_021814.5(ELOVL5):c.351C>T (p.Tyr117=)	not provided [RCV002800365]	likely benign	6	53275235	53275235	Human		name
156138527	CV2048252	single nucleotide variant	NM_021814.5(ELOVL5):c.771A>G (p.Lys257=)	not provided [RCV002800867]	likely benign	6	53269256	53269256	Human		name
156142583	CV2082388	single nucleotide variant	NM_021814.5(ELOVL5):c.663C>T (p.Val221=)	not provided [RCV002872035]	likely benign	6	53270686	53270686	Human		name
156296230	CV2119246	single nucleotide variant	NM_021814.5(ELOVL5):c.531C>T (p.His177=)	not provided [RCV002961931]	benign	6	53273310	53273310	Human		name
243058847	CV2409866	single nucleotide variant	NM_021814.5(ELOVL5):c.694T>C (p.Leu232=)	Spinocerebellar ataxia type 38 [RCV003147040]	uncertain significance	6	53270655	53270655	Human	1	name
401925539	CV2820437	single nucleotide variant	NM_021814.5(ELOVL5):c.97A>T (p.Ile33Leu)	Inborn genetic diseases [RCV004364613]\|not provided [RCV003436593]	uncertain significance	6	53291925	53291925	Human	1	name
402501372	CV2869047	single nucleotide variant	NM_021814.5(ELOVL5):c.780C>T (p.Ser260=)	not provided [RCV003545918]	likely benign	6	53269247	53269247	Human		name
402519321	CV2871010	single nucleotide variant	NM_021814.5(ELOVL5):c.420G>A (p.Thr140=)	not provided [RCV003547637]	benign	6	53275166	53275166	Human		name
405179563	CV3056517	single nucleotide variant	NM_021814.5(ELOVL5):c.672G>A (p.Pro224=)	not provided [RCV003728558]	likely benign	6	53270677	53270677	Human		name
407506765	CV3434852	single nucleotide variant	NM_021814.5(ELOVL5):c.62C>T (p.Thr21Ile)	Inborn genetic diseases [RCV004624827]\|not provided [RCV005059643]	uncertain significance	6	53291960	53291960	Human	1	name
407506767	CV3434853	single nucleotide variant	NM_021814.5(ELOVL5):c.92A>G (p.Asn31Ser)	Inborn genetic diseases [RCV004624828]	uncertain significance	6	53291930	53291930	Human	1	name
597667479	CV3667564	single nucleotide variant	NM_021814.5(ELOVL5):c.846C>T (p.Asn282=)	Inborn genetic diseases [RCV004979708]	likely benign	6	53269181	53269181	Human	1	name
9481188	CV153827	single nucleotide variant	NM_021814.5(ELOVL5):c.214C>G (p.Leu72Val)	Spinocerebellar ataxia type 38 [RCV000133588]	pathogenic	6	53291808	53291808	Human	1	name
156408060	CV1873196	single nucleotide variant	NM_021814.5(ELOVL5):c.149C>A (p.Pro50Gln)	Inborn genetic diseases [RCV004978517]\|not provided [RCV003071117]	uncertain significance	6	53291873	53291873	Human	1	name
156329449	CV2213840	single nucleotide variant	NM_021814.5(ELOVL5):c.184C>T (p.Arg62Trp)	Inborn genetic diseases [RCV002673128]	uncertain significance	6	53291838	53291838	Human	1	name
156027549	CV2242470	single nucleotide variant	NM_021814.5(ELOVL5):c.157A>G (p.Met53Val)	Inborn genetic diseases [RCV002757825]	uncertain significance	6	53291865	53291865	Human	1	name
401925537	CV2820436	single nucleotide variant	NM_021814.5(ELOVL5):c.190A>T (p.Ile64Phe)	not provided [RCV003436592]	uncertain significance	6	53291832	53291832	Human		name
405031687	CV3012870	single nucleotide variant	NM_021814.5(ELOVL5):c.123A>G (p.Ile41Met)	Inborn genetic diseases [RCV004371814]\|not provided [RCV003695620]	uncertain significance	6	53291899	53291899	Human	1	name
405248539	CV3159322	single nucleotide variant	NM_021814.5(ELOVL5):c.109A>T (p.Ile37Phe)	not provided [RCV003869468]	uncertain significance	6	53291913	53291913	Human		name
402511993	CV3178426	single nucleotide variant	NM_021814.5(ELOVL5):c.185G>A (p.Arg62Gln)	not provided [RCV003879043]	uncertain significance	6	53291837	53291837	Human		name
597667502	CV3667568	single nucleotide variant	NM_021814.5(ELOVL5):c.268G>A (p.Gly90Ser)	Inborn genetic diseases [RCV004979712]	uncertain significance	6	53276235	53276235	Human	1	name
598121780	CV3889860	single nucleotide variant	NM_021814.5(ELOVL5):c.140G>A (p.Trp47Ter)	Spinocerebellar ataxia type 38 [RCV005247964]	uncertain significance	6	53291882	53291882	Human	1	name
598191573	CV3957839	single nucleotide variant	NM_021814.5(ELOVL5):c.191T>A (p.Ile64Asn)	Inborn genetic diseases [RCV005334858]	uncertain significance	6	53291831	53291831	Human	1	name
34891034	CV904487	deletion	NM_021814.5(ELOVL5):c.860del (p.Leu287fs)	not provided [RCV001171862]	uncertain significance	6	53269167	53269167	Human		name
40886408	CV972773	single nucleotide variant	NM_021814.5(ELOVL5):c.235A>T (p.Met79Leu)	Spinocerebellar ataxia type 38 [RCV001264794]	uncertain significance	6	53291787	53291787	Human	1	name
126913569	CV1037724	single nucleotide variant	NM_021814.5(ELOVL5):c.536T>G (p.Leu179Arg)	not provided [RCV001357492]	uncertain significance	6	53273305	53273305	Human		name
151757777	CV1288099	single nucleotide variant	NM_021814.5(ELOVL5):c.490G>A (p.Gly164Ser)	Spinocerebellar ataxia type 38 [RCV001849222]	uncertain significance	6	53275096	53275096	Human	1	name
9481187	CV153826	single nucleotide variant	NM_021814.5(ELOVL5):c.689G>T (p.Gly230Val)	Spinocerebellar ataxia type 38 [RCV000133587]	pathogenic	6	53270660	53270660	Human	1	name
155268253	CV1701686	single nucleotide variant	NM_021814.5(ELOVL5):c.692G>T (p.Trp231Leu)	Spinocerebellar ataxia type 38 [RCV002283916]	uncertain significance	6	53270657	53270657	Human	1	name
156370195	CV1905165	single nucleotide variant	NM_021814.5(ELOVL5):c.782G>A (p.Arg261Gln)	not provided [RCV002582359]	benign	6	53269245	53269245	Human		name
156402578	CV1908140	single nucleotide variant	NM_021814.5(ELOVL5):c.382T>C (p.Phe128Leu)	Inborn genetic diseases [RCV003250773]\|not provided [RCV002585047]	uncertain significance	6	53275204	53275204	Human	1	name
156225596	CV1956661	single nucleotide variant	NM_021814.5(ELOVL5):c.842C>T (p.Thr281Ile)	not provided [RCV002575690]	uncertain significance	6	53269185	53269185	Human		name
156219601	CV1960106	single nucleotide variant	NM_021814.5(ELOVL5):c.361C>T (p.Leu121Phe)	not provided [RCV002575473]	uncertain significance	6	53275225	53275225	Human		name
155964757	CV1977814	single nucleotide variant	NM_021814.5(ELOVL5):c.331C>T (p.Arg111Cys)	not provided [RCV002616902]	uncertain significance	6	53275255	53275255	Human		name
156233021	CV1988091	single nucleotide variant	NM_021814.5(ELOVL5):c.805C>T (p.His269Tyr)	not provided [RCV002626863]	uncertain significance	6	53269222	53269222	Human		name
156375605	CV2000167	single nucleotide variant	NM_021814.5(ELOVL5):c.803A>G (p.Asp268Gly)	not provided [RCV002653267]	uncertain significance	6	53269224	53269224	Human		name
156007165	CV2064931	single nucleotide variant	NM_021814.5(ELOVL5):c.586C>G (p.Leu196Val)	not provided [RCV002843682]	uncertain significance	6	53273255	53273255	Human		name
10409074	CV207421	single nucleotide variant	NM_021814.5(ELOVL5):c.698A>G (p.Tyr233Cys)	Spinocerebellar ataxia type 38 [RCV001270037]\|not provided [RCV000898740]\|not specified [RCV000194832]	likely benign\|uncertain significance	6	53270651	53270651	Human	1	name
156117823	CV2115796	single nucleotide variant	NM_021814.5(ELOVL5):c.551A>G (p.Tyr184Cys)	not provided [RCV002927691]	uncertain significance	6	53273290	53273290	Human		name
156244580	CV2126303	single nucleotide variant	NM_021814.5(ELOVL5):c.871G>A (p.Val291Met)	not provided [RCV002958990]	conflicting interpretations of pathogenicity\|uncertain significance	6	53269156	53269156	Human		name
156033433	CV2127869	single nucleotide variant	NM_021814.5(ELOVL5):c.319A>G (p.Met107Val)	not provided [RCV002923616]	uncertain significance	6	53276184	53276184	Human		name
156088438	CV2132107	single nucleotide variant	NM_021814.5(ELOVL5):c.430G>A (p.Val144Ile)	not provided [RCV002979512]	uncertain significance	6	53275156	53275156	Human		name
156139974	CV2162159	single nucleotide variant	NM_021814.5(ELOVL5):c.602A>G (p.Tyr201Cys)	not provided [RCV003022486]	uncertain significance	6	53273239	53273239	Human		name
156236856	CV2224159	single nucleotide variant	NM_021814.5(ELOVL5):c.779C>T (p.Ser260Phe)	Inborn genetic diseases [RCV002713122]	uncertain significance	6	53269248	53269248	Human	1	name
156205713	CV2311441	single nucleotide variant	NM_021814.5(ELOVL5):c.334G>A (p.Val112Ile)	Inborn genetic diseases [RCV002893435]	uncertain significance	6	53275252	53275252	Human	1	name
156256539	CV2374104	single nucleotide variant	NM_021814.5(ELOVL5):c.472A>T (p.Met158Leu)	Inborn genetic diseases [RCV002714299]	uncertain significance	6	53275114	53275114	Human	1	name
156153615	CV2374859	single nucleotide variant	NM_021814.5(ELOVL5):c.304G>T (p.Ala102Ser)	Inborn genetic diseases [RCV002709807]	uncertain significance	6	53276199	53276199	Human	1	name
243058593	CV2409867	single nucleotide variant	NM_021814.5(ELOVL5):c.332G>A (p.Arg111His)	Inborn genetic diseases [RCV004978790]\|Spinocerebellar ataxia type 38 [RCV003147041]\|not provided [RCV003738375]	uncertain significance	6	53275254	53275254	Human	2	name
401762988	CV2710398	single nucleotide variant	NM_021814.5(ELOVL5):c.533T>C (p.Val178Ala)	Inborn genetic diseases [RCV003258065]	uncertain significance	6	53273308	53273308	Human	1	name
401797899	CV2741081	single nucleotide variant	NM_021814.5(ELOVL5):c.702C>A (p.Phe234Leu)	not provided [RCV003322245]	uncertain significance	6	53270647	53270647	Human		name
401857729	CV2755572	single nucleotide variant	NM_021814.5(ELOVL5):c.578G>A (p.Arg193His)	Inborn genetic diseases [RCV003341248]	uncertain significance	6	53273263	53273263	Human	1	name
401870931	CV2788952	single nucleotide variant	NM_021814.5(ELOVL5):c.856C>A (p.Pro286Thr)	Inborn genetic diseases [RCV003381391]	uncertain significance	6	53269171	53269171	Human	1	name
402500497	CV2872821	single nucleotide variant	NM_021814.5(ELOVL5):c.532G>A (p.Val178Ile)	Inborn genetic diseases [RCV004369076]\|not provided [RCV003545850]	uncertain significance	6	53273309	53273309	Human	1	name
405138055	CV2963221	single nucleotide variant	NM_021814.5(ELOVL5):c.310G>C (p.Glu104Gln)	not provided [RCV003668891]	uncertain significance	6	53276193	53276193	Human		name
405242728	CV2967422	single nucleotide variant	NM_021814.5(ELOVL5):c.658G>A (p.Gly220Arg)	not provided [RCV003684422]	uncertain significance	6	53270691	53270691	Human		name
402488329	CV2995537	single nucleotide variant	NM_021814.5(ELOVL5):c.539T>G (p.Met180Arg)	not provided [RCV003687284]	uncertain significance	6	53273302	53273302	Human		name
405165282	CV3018763	single nucleotide variant	NM_021814.5(ELOVL5):c.320T>A (p.Met107Lys)	not provided [RCV003704259]	uncertain significance	6	53276183	53276183	Human		name
405162536	CV3062720	single nucleotide variant	NM_021814.5(ELOVL5):c.640A>G (p.Ile214Val)	not provided [RCV003727201]	uncertain significance	6	53270709	53270709	Human		name
405208217	CV3065358	single nucleotide variant	NM_021814.5(ELOVL5):c.670C>T (p.Pro224Ser)	not provided [RCV003731619]	uncertain significance	6	53270679	53270679	Human		name
405104028	CV3116358	single nucleotide variant	NM_021814.5(ELOVL5):c.565G>C (p.Val189Leu)	not provided [RCV003812074]	uncertain significance	6	53273276	53273276	Human		name
405055451	CV3151474	single nucleotide variant	NM_021814.5(ELOVL5):c.325A>C (p.Ile109Leu)	Inborn genetic diseases [RCV004981100]\|not provided [RCV003849883]	uncertain significance	6	53275261	53275261	Human	1	name
405739849	CV3248682	single nucleotide variant	NM_021814.5(ELOVL5):c.310G>A (p.Glu104Lys)	Inborn genetic diseases [RCV004380385]	uncertain significance	6	53276193	53276193	Human	1	name
405739856	CV3248683	single nucleotide variant	NM_021814.5(ELOVL5):c.568C>T (p.Pro190Ser)	Inborn genetic diseases [RCV004380386]	uncertain significance	6	53273273	53273273	Human	1	name
407506762	CV3434851	single nucleotide variant	NM_021814.5(ELOVL5):c.889C>T (p.Arg297Trp)	Inborn genetic diseases [RCV004624826]	uncertain significance	6	53269138	53269138	Human	1	name
597667490	CV3667566	single nucleotide variant	NM_021814.5(ELOVL5):c.299G>A (p.Arg100His)	Inborn genetic diseases [RCV004979710]	uncertain significance	6	53276204	53276204	Human	1	name
597667509	CV3667569	single nucleotide variant	NM_021814.5(ELOVL5):c.773G>A (p.Gly258Glu)	Inborn genetic diseases [RCV004979713]	uncertain significance	6	53269254	53269254	Human	1	name
597946984	CV3755684	single nucleotide variant	NM_021814.5(ELOVL5):c.304G>A (p.Ala102Thr)	Spinocerebellar ataxia type 38 [RCV005392960]\|not provided [RCV005078694]	uncertain significance	6	53276199	53276199	Human	1	name
597908884	CV3781704	single nucleotide variant	NM_021814.5(ELOVL5):c.560C>T (p.Ser187Leu)	not provided [RCV005128392]	uncertain significance	6	53273281	53273281	Human		name
598191568	CV3957838	single nucleotide variant	NM_021814.5(ELOVL5):c.350A>C (p.Tyr117Ser)	Inborn genetic diseases [RCV005334857]	uncertain significance	6	53275236	53275236	Human	1	name
38462577	CV919041	single nucleotide variant	NM_021814.5(ELOVL5):c.577C>T (p.Arg193Cys)	Inborn genetic diseases [RCV002561062]\|Spinocerebellar ataxia type 38 [RCV001198538]	uncertain significance	6	53273264	53273264	Human	2	name
40887234	CV973551	single nucleotide variant	NM_021814.5(ELOVL5):c.790G>A (p.Asp264Asn)	Inborn genetic diseases [RCV001266719]	uncertain significance	6	53269237	53269237	Human	1	name
150476960	CV1239961	insertion	NM_021814.5(ELOVL5):c.757-97_757-96insAAAAG	not provided [RCV001652139]	benign	6	53269366	53269367	Human		name
405000469	CV3183946	indel	NM_021814.5(ELOVL5):c.247-15_247-14delinsGC	not provided [RCV003882529]	uncertain significance	6	53276270	53276271	Human		name
155266558	CV1699127	duplication	NM_021814.5(ELOVL5):c.889_890dup (p.Lys298fs)	not specified [RCV002282922]	uncertain significance	6	53269136	53269137	Human		name

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