Elp4 Variant Search Result - Rat Genome Database

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76 records found for search term Elp4

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150512232	CV1245312	single nucleotide variant	NM_019040.5(ELP4):c.927+4C>A	Aniridia 2 [RCV001661277]\|not provided [RCV002073073]	benign	11	31632409	31632409	Human	1	name
13527024	CV504219	single nucleotide variant	NM_019040.5(ELP4):c.927+5G>T	not specified [RCV000604909]	likely benign	11	31632410	31632410	Human		name
404979211	CV3009506	single nucleotide variant	NM_019040.5(ELP4):c.223+12G>A	not provided [RCV003690944]	benign	11	31510019	31510019	Human		name
405230877	CV3157292	single nucleotide variant	NM_019040.5(ELP4):c.927+17A>G	not provided [RCV003865242]	benign	11	31632422	31632422	Human		name
597900103	CV3850895	single nucleotide variant	NM_019040.5(ELP4):c.927+19T>C	not provided [RCV005201879]	likely benign	11	31632424	31632424	Human		name
8555256	CV125923	single nucleotide variant	NM_019040.5(ELP4):c.1143+14176C>A	Aniridia 1 [RCV000106409]	pathogenic	11	31664397	31664397	Human	1	name
15178071	CV701729	single nucleotide variant	NM_019040.5(ELP4):c.15A>C (p.Ala5=)	ELP4-related disorder [RCV003978224]\|not provided [RCV000951187]	likely benign	11	31509799	31509799	Human	1	name , trait , alternate_id
405253515	CV3054280	single nucleotide variant	NM_019040.5(ELP4):c.63C>G (p.Ala21=)	not provided [RCV003722565]	likely benign	11	31509847	31509847	Human		name
150332663	CV1164386	single nucleotide variant	NM_019040.5(ELP4):c.17C>T (p.Thr6Ile)	not provided [RCV001528431]\|not specified [RCV004039192]	likely benign\|uncertain significance	11	31509801	31509801	Human		name
405268132	CV3189651	single nucleotide variant	NM_019040.5(ELP4):c.165G>T (p.Ser55=)	ELP4-related disorder [RCV003899042]	likely benign	11	31509949	31509949	Human		name , trait , alternate_id
405293017	CV3207114	single nucleotide variant	NM_019040.5(ELP4):c.237C>T (p.Ala79=)	ELP4-related disorder [RCV003931524]	likely benign	11	31520069	31520069	Human		name , trait , alternate_id
402474590	CV2858236	single nucleotide variant	NM_019040.5(ELP4):c.93G>T (p.Arg31Ser)	not provided [RCV003543158]	uncertain significance	11	31509877	31509877	Human		name
405180470	CV2956230	single nucleotide variant	NM_019040.5(ELP4):c.606A>T (p.Gly202=)	not provided [RCV003676213]	benign	11	31603860	31603860	Human		name
405142651	CV2958846	single nucleotide variant	NM_019040.5(ELP4):c.82A>G (p.Ser28Gly)	not provided [RCV003673371]	uncertain significance	11	31509866	31509866	Human		name
405003731	CV3016385	single nucleotide variant	NM_019040.5(ELP4):c.882C>T (p.Thr294=)	not provided [RCV003693415]	likely benign	11	31632360	31632360	Human		name
405754091	CV3248723	single nucleotide variant	NM_019040.5(ELP4):c.31G>A (p.Ala11Thr)	not specified [RCV004382410]	likely benign	11	31509815	31509815	Human		name
405754127	CV3248728	single nucleotide variant	NM_019040.5(ELP4):c.92G>T (p.Arg31Met)	not specified [RCV004382415]	uncertain significance	11	31509876	31509876	Human		name
597666951	CV3667606	single nucleotide variant	NM_019040.5(ELP4):c.62C>G (p.Ala21Gly)	not specified [RCV004912646]	uncertain significance	11	31509846	31509846	Human		name
597936737	CV3759838	single nucleotide variant	NM_019040.5(ELP4):c.876G>T (p.Leu292=)	not provided [RCV005076760]	likely benign	11	31632354	31632354	Human		name
597904180	CV3856233	single nucleotide variant	NM_019040.5(ELP4):c.957C>T (p.Thr319=)	not provided [RCV005202461]	likely benign	11	31647770	31647770	Human		name
15103165	CV701731	single nucleotide variant	NM_019040.5(ELP4):c.801C>T (p.Asp267=)	not provided [RCV000959427]	likely benign	11	31632279	31632279	Human		name
15134427	CV752645	single nucleotide variant	NM_019040.5(ELP4):c.810C>T (p.Cys270=)	not provided [RCV000920685]	likely benign	11	31632288	31632288	Human		name
42723525	CV984372	deletion	NM_019040.5(ELP4):c.284del (p.Ser95fs)	Autism spectrum disorder [RCV001291505]	association	11	31539686	31539686	Human	2	name
151236184	CV1319629	single nucleotide variant	NM_019040.5(ELP4):c.272A>G (p.Tyr91Cys)	Global developmental delay [RCV001797565]	likely pathogenic	11	31539674	31539674	Human	2	name
401923883	CV2803329	single nucleotide variant	NM_019040.5(ELP4):c.1176A>G (p.Thr392=)	ELP4-related disorder [RCV003404475]	uncertain significance	11	31783425	31783425	Human		name , trait , alternate_id
405205410	CV3068175	single nucleotide variant	NM_019040.5(ELP4):c.127G>T (p.Gly43Cys)	not provided [RCV003731269]	uncertain significance	11	31509911	31509911	Human		name
405754083	CV3248722	single nucleotide variant	NM_019040.5(ELP4):c.245C>G (p.Thr82Arg)	not specified [RCV004382409]	uncertain significance	11	31520077	31520077	Human		name
408384981	CV3506671	duplication	NM_019040.5(ELP4):c.744dup (p.Gln249fs)	ELP4-related disorder [RCV004732284]	uncertain significance	11	31632216	31632217	Human		name , trait , alternate_id
597666943	CV3667605	single nucleotide variant	NM_019040.5(ELP4):c.130C>A (p.Pro44Thr)	not specified [RCV004912645]	uncertain significance	11	31509914	31509914	Human		name
15142300	CV693006	single nucleotide variant	NM_019040.5(ELP4):c.1248C>T (p.Ala416=)	not provided [RCV000877843]	benign	11	31783497	31783497	Human		name
151236183	CV1319628	single nucleotide variant	NM_019040.5(ELP4):c.886C>A (p.Leu296Ile)	Global developmental delay [RCV001797564]	likely pathogenic	11	31632364	31632364	Human	2	name
156006188	CV2015040	single nucleotide variant	NM_019040.5(ELP4):c.848A>C (p.Lys283Thr)	not provided [RCV002690281]	uncertain significance	11	31632326	31632326	Human		name
156342533	CV2222314	single nucleotide variant	NM_019040.5(ELP4):c.947G>C (p.Arg316Pro)	not specified [RCV004105327]	uncertain significance	11	31647760	31647760	Human		name
156073803	CV2299281	single nucleotide variant	NM_019040.5(ELP4):c.812G>A (p.Cys271Tyr)	not specified [RCV004152606]	uncertain significance	11	31632290	31632290	Human		name
156346187	CV2305210	single nucleotide variant	NM_019040.5(ELP4):c.842T>C (p.Leu281Pro)	not specified [RCV004171144]	uncertain significance	11	31632320	31632320	Human		name
156358884	CV2328094	single nucleotide variant	NM_019040.5(ELP4):c.997T>A (p.Ser333Thr)	not specified [RCV004173210]	uncertain significance	11	31647810	31647810	Human		name
156044222	CV2381615	single nucleotide variant	NM_019040.5(ELP4):c.326A>G (p.Asn109Ser)	not specified [RCV004232088]	likely benign	11	31539728	31539728	Human		name
401737657	CV2679936	single nucleotide variant	NM_019040.5(ELP4):c.766G>A (p.Gly256Arg)	not specified [RCV004284217]	uncertain significance	11	31632244	31632244	Human		name
401756875	CV2681631	single nucleotide variant	NM_019040.5(ELP4):c.488G>A (p.Arg163His)	not provided [RCV003708752]\|not specified [RCV004294190]	uncertain significance	11	31594876	31594876	Human		name
401902860	CV2799724	single nucleotide variant	NM_019040.5(ELP4):c.643G>A (p.Val215Ile)	ELP4-related disorder [RCV003419110]	uncertain significance	11	31603897	31603897	Human		name , trait , alternate_id
402498357	CV2871842	single nucleotide variant	NM_019040.5(ELP4):c.494A>C (p.Gln165Pro)	not provided [RCV003545647]	uncertain significance	11	31594882	31594882	Human		name
402500148	CV2872743	single nucleotide variant	NM_019040.5(ELP4):c.548A>G (p.Tyr183Cys)	not provided [RCV003545816]	uncertain significance	11	31603802	31603802	Human		name
405232036	CV2896246	single nucleotide variant	NM_019040.5(ELP4):c.947G>A (p.Arg316His)	not provided [RCV003555678]	uncertain significance	11	31647760	31647760	Human		name
402491946	CV3008206	single nucleotide variant	NM_019040.5(ELP4):c.763A>G (p.Ile255Val)	not provided [RCV003687619]	uncertain significance	11	31632241	31632241	Human		name
405229414	CV3153500	single nucleotide variant	NM_019040.5(ELP4):c.541G>A (p.Gly181Ser)	not provided [RCV003848565]	uncertain significance	11	31603795	31603795	Human		name
405754099	CV3248724	single nucleotide variant	NM_019040.5(ELP4):c.436G>T (p.Val146Leu)	not specified [RCV004382411]	uncertain significance	11	31594824	31594824	Human		name
405754104	CV3248725	single nucleotide variant	NM_019040.5(ELP4):c.517G>A (p.Gly173Arg)	not specified [RCV004382412]	uncertain significance	11	31603771	31603771	Human		name
405754113	CV3248726	single nucleotide variant	NM_019040.5(ELP4):c.628T>C (p.Ser210Pro)	not specified [RCV004382413]	uncertain significance	11	31603882	31603882	Human		name
405754121	CV3248727	single nucleotide variant	NM_019040.5(ELP4):c.865C>T (p.Arg289Cys)	not specified [RCV004382414]	uncertain significance	11	31632343	31632343	Human		name
407506813	CV3434874	single nucleotide variant	NM_019040.5(ELP4):c.802G>T (p.Asp268Tyr)	not specified [RCV004624849]	uncertain significance	11	31632280	31632280	Human		name
407506815	CV3434875	single nucleotide variant	NM_019040.5(ELP4):c.955A>G (p.Thr319Ala)	not specified [RCV004624850]	uncertain significance	11	31647768	31647768	Human		name
408383903	CV3506074	single nucleotide variant	NM_019040.5(ELP4):c.536G>T (p.Arg179Ile)	ELP4-related disorder [RCV004731386]	uncertain significance	11	31603790	31603790	Human		name , trait , alternate_id
597666935	CV3667604	single nucleotide variant	NM_019040.5(ELP4):c.590C>T (p.Ala197Val)	not specified [RCV004912644]	uncertain significance	11	31603844	31603844	Human		name
597880170	CV3744764	single nucleotide variant	NM_019040.5(ELP4):c.509T>C (p.Met170Thr)	not provided [RCV005069789]	uncertain significance	11	31594897	31594897	Human		name
597879502	CV3786898	single nucleotide variant	NM_019040.5(ELP4):c.961T>C (p.Ser321Pro)	not provided [RCV005123974]	uncertain significance	11	31647774	31647774	Human		name
598191765	CV3957872	single nucleotide variant	NM_019040.5(ELP4):c.331C>T (p.His111Tyr)	not specified [RCV005334891]	uncertain significance	11	31539733	31539733	Human		name
598191771	CV3957873	single nucleotide variant	NM_019040.5(ELP4):c.542G>A (p.Gly181Asp)	not specified [RCV005334892]	uncertain significance	11	31603796	31603796	Human		name
598191783	CV3957875	single nucleotide variant	NM_019040.5(ELP4):c.362A>G (p.Asp121Gly)	not specified [RCV005334894]	uncertain significance	11	31539764	31539764	Human		name
15143705	CV693002	single nucleotide variant	NM_019040.5(ELP4):c.572C>A (p.Pro191Gln)	ELP4-related disorder [RCV003908356]\|not provided [RCV000878095]	benign\|likely benign	11	31603826	31603826	Human	1	name , trait , alternate_id
15180920	CV701730	single nucleotide variant	NM_019040.5(ELP4):c.338T>C (p.Leu113Ser)	not provided [RCV000951858]	benign	11	31539740	31539740	Human		name
15179724	CV701732	single nucleotide variant	NM_019040.5(ELP4):c.898A>C (p.Ile300Leu)	not provided [RCV000951584]	benign	11	31632376	31632376	Human		name
15099714	CV724401	single nucleotide variant	NM_019040.5(ELP4):c.759A>C (p.Leu253Phe)	not provided [RCV000891988]\|not specified [RCV004028415]	likely benign\|uncertain significance	11	31632237	31632237	Human		name
126732534	CV1020857	single nucleotide variant	NM_019040.5(ELP4):c.1023T>G (p.Tyr341Ter)	Aniridia 2 [RCV001334044]	uncertain significance	11	31647836	31647836	Human	1	name
156262492	CV2095451	single nucleotide variant	NM_019040.5(ELP4):c.1184G>A (p.Arg395His)	not provided [RCV002895633]\|not specified [RCV004066080]	uncertain significance	11	31783433	31783433	Human		name
156156378	CV2122046	single nucleotide variant	NM_019040.5(ELP4):c.1183C>T (p.Arg395Cys)	not provided [RCV002929082]	uncertain significance	11	31783432	31783432	Human		name
401737773	CV2703642	single nucleotide variant	NM_019040.5(ELP4):c.1064G>A (p.Arg355Gln)	not specified [RCV004315904]	uncertain significance	11	31650142	31650142	Human		name
405754076	CV3248721	single nucleotide variant	NM_019040.5(ELP4):c.1213G>A (p.Ala405Thr)	not specified [RCV004382408]	likely benign	11	31783462	31783462	Human		name
597666959	CV3667607	single nucleotide variant	NM_019040.5(ELP4):c.1094A>T (p.Asp365Val)	not specified [RCV004912647]	uncertain significance	11	31650172	31650172	Human		name
597867185	CV3838651	single nucleotide variant	NM_019040.5(ELP4):c.1036G>C (p.Gly346Arg)	not provided [RCV005175947]	uncertain significance	11	31647849	31647849	Human		name
15146490	CV693003	single nucleotide variant	NM_019040.5(ELP4):c.1051C>T (p.Arg351Trp)	not provided [RCV000878565]	benign	11	31650129	31650129	Human		name
15144127	CV693004	single nucleotide variant	NM_019040.5(ELP4):c.1181G>C (p.Ser394Thr)	ELP4-related disorder [RCV003930458]\|not provided [RCV000878168]	benign	11	31783430	31783430	Human	1	name , trait , alternate_id
15142444	CV693005	single nucleotide variant	NM_019040.5(ELP4):c.1241T>C (p.Met414Thr)	ELP4-related disorder [RCV003920467]\|not provided [RCV000877870]\|not specified [RCV004027898]	likely benign\|uncertain significance	11	31783490	31783490	Human	1	name , trait , alternate_id
15181207	CV701733	single nucleotide variant	NM_019040.5(ELP4):c.1220G>T (p.Arg407Leu)	not provided [RCV000951920]	benign	11	31783469	31783469	Human		name
15156166	CV712786	single nucleotide variant	NM_019040.5(ELP4):c.1217A>G (p.Lys406Arg)	not provided [RCV000969062]	likely benign	11	31783466	31783466	Human		name
156435024	CV2403309	microsatellite	NM_019040.5(ELP4):c.1144-19903_1144-19902del	Autism spectrum disorder [RCV003127245]	likely benign	11	31763488	31763489	Human		name
596946470	CV3548291	deletion	NM_019040.5(ELP4):c.1144-19957_1144-19956del	not provided [RCV004810116]	likely benign	11	31763436	31763437	Human		name

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