Ireb2 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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229 records found for search term Ireb2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405177043	CV3119359	deletion	NM_004136.4(IREB2):c.20-4del	not provided [RCV003819644]	benign	15	78439783	78439783	Human		name
405255563	CV3172468	duplication	NM_004136.4(IREB2):c.20-4dup	IREB2-related disorder [RCV003921393]\|not provided [RCV003872406]	benign\|likely benign	15	78439782	78439783	Human	1	name , trait , alternate_id
405253831	CV3178693	single nucleotide variant	NM_004136.4(IREB2):c.20-4T>C	not provided [RCV003871295]	likely benign	15	78439791	78439791	Human		name
156441999	CV1941661	single nucleotide variant	NM_004136.4(IREB2):c.884-6C>T	not provided [RCV003112335]	likely benign	15	78473236	78473236	Human		name
155990509	CV2066782	single nucleotide variant	NM_004136.4(IREB2):c.699+6A>G	not provided [RCV002842939]	uncertain significance	15	78470607	78470607	Human		name
402503181	CV2879808	single nucleotide variant	NM_004136.4(IREB2):c.884-5G>A	not provided [RCV003546117]	likely benign	15	78473237	78473237	Human		name
15119329	CV779953	single nucleotide variant	NM_004136.4(IREB2):c.629+7G>T	IREB2-related disorder [RCV003970837]\|not provided [RCV000962531]	benign	15	78466496	78466496	Human	1	name , trait , alternate_id
150521293	CV1290204	single nucleotide variant	NM_004136.4(IREB2):c.629+22A>C	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia [RCV001731017]\|not provided [RCV004715544]	benign	15	78466511	78466511	Human	1	name
150521255	CV1290205	single nucleotide variant	NM_004136.4(IREB2):c.883+19A>G	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia [RCV001731018]\|not provided [RCV003107836]	benign	15	78471943	78471943	Human	1	name
156407481	CV1957499	single nucleotide variant	NM_004136.4(IREB2):c.106+19T>A	not provided [RCV002586240]	likely benign	15	78439900	78439900	Human		name
156222837	CV1960341	single nucleotide variant	NM_004136.4(IREB2):c.630-17G>A	not provided [RCV002575594]	likely benign	15	78470515	78470515	Human		name
156348704	CV1970711	single nucleotide variant	NM_004136.4(IREB2):c.1196-8C>T	not provided [RCV002601665]	likely benign	15	78478289	78478289	Human		name
156419638	CV1973884	single nucleotide variant	NM_004136.4(IREB2):c.106+16A>G	not provided [RCV002612877]	likely benign	15	78439897	78439897	Human		name
156401744	CV1992207	single nucleotide variant	NM_004136.4(IREB2):c.2076+9C>A	not provided [RCV002605672]	likely benign	15	78488780	78488780	Human		name
156263923	CV1993794	single nucleotide variant	NM_004136.4(IREB2):c.1574-6G>A	not provided [RCV002646308]	likely benign	15	78485699	78485699	Human		name
156099615	CV2007695	single nucleotide variant	NM_004136.4(IREB2):c.410+12C>A	not provided [RCV002695255]	likely benign	15	78465400	78465400	Human		name
155904305	CV2047966	single nucleotide variant	NM_004136.4(IREB2):c.2782-8C>T	not provided [RCV002771171]	uncertain significance	15	78498025	78498025	Human		name
156373260	CV2059375	single nucleotide variant	NM_004136.4(IREB2):c.1023+8A>G	not provided [RCV002814469]	likely benign	15	78473389	78473389	Human		name
155931580	CV2067328	single nucleotide variant	NM_004136.4(IREB2):c.273-11T>A	not provided [RCV002838793]	uncertain significance	15	78465240	78465240	Human		name
156255575	CV2117250	single nucleotide variant	NM_004136.4(IREB2):c.1196-7G>A	not provided [RCV002933703]	likely benign	15	78478290	78478290	Human		name
156001802	CV2170043	single nucleotide variant	NM_004136.4(IREB2):c.2781+8T>G	not provided [RCV003017309]	likely benign	15	78497319	78497319	Human		name
405175938	CV3049350	single nucleotide variant	NM_004136.4(IREB2):c.1414-4A>G	not provided [RCV003728340]	likely benign	15	78484757	78484757	Human		name
405244781	CV3054107	single nucleotide variant	NM_004136.4(IREB2):c.1297-7T>C	not provided [RCV003719883]	likely benign	15	78483311	78483311	Human		name
597934743	CV3845109	deletion	NM_004136.4(IREB2):c.1795-4del	not provided [RCV005186422]	benign	15	78488170	78488170	Human		name
150521341	CV1290207	single nucleotide variant	NM_004136.4(IREB2):c.2472+12A>C	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia [RCV001731020]\|not provided [RCV003107837]	benign	15	78494068	78494068	Human	1	name
150521295	CV1290209	single nucleotide variant	NM_004136.4(IREB2):c.2781+23T>C	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia [RCV001731022]\|not provided [RCV004715545]	benign	15	78497334	78497334	Human	1	name
156407484	CV1957500	duplication	NM_004136.4(IREB2):c.2781+16dup	not provided [RCV002586241]	benign	15	78497322	78497323	Human		name
156341453	CV1957873	single nucleotide variant	NM_004136.4(IREB2):c.1709+14A>G	not provided [RCV002580529]	likely benign	15	78485854	78485854	Human		name
155902432	CV1975739	single nucleotide variant	NM_004136.4(IREB2):c.2077-17G>A	not provided [RCV002613470]	likely benign	15	78490405	78490405	Human		name
156336658	CV1997232	single nucleotide variant	NM_004136.4(IREB2):c.2473-20G>A	not provided [RCV002650105]	likely benign	15	78494122	78494122	Human		name
156354283	CV2004893	single nucleotide variant	NM_004136.4(IREB2):c.2077-18C>T	not provided [RCV002675810]	likely benign	15	78490404	78490404	Human		name
156030601	CV2036877	single nucleotide variant	NM_004136.4(IREB2):c.1709+16C>T	not provided [RCV002781093]	likely benign	15	78485856	78485856	Human		name
155956353	CV2040158	single nucleotide variant	NM_004136.4(IREB2):c.2781+19A>G	not provided [RCV002776038]	benign	15	78497330	78497330	Human		name
155961246	CV2040479	single nucleotide variant	NM_004136.4(IREB2):c.2076+13T>C	not provided [RCV002776277]	benign	15	78488784	78488784	Human		name
156135035	CV2048021	single nucleotide variant	NM_004136.4(IREB2):c.1709+17G>A	not provided [RCV002800752]	benign	15	78485857	78485857	Human		name
156139071	CV2048283	deletion	NM_004136.4(IREB2):c.2325-17del	not provided [RCV002800884]	likely benign	15	78493890	78493890	Human		name
156293077	CV2065170	single nucleotide variant	NM_004136.4(IREB2):c.1952-15A>C	not provided [RCV002856834]	likely benign	15	78488632	78488632	Human		name
156011908	CV2079910	single nucleotide variant	NM_004136.4(IREB2):c.1794+18G>A	not provided [RCV002866151]	likely benign	15	78487835	78487835	Human		name
156199779	CV2083288	single nucleotide variant	NM_004136.4(IREB2):c.1297-12C>G	not provided [RCV002852424]	likely benign	15	78483306	78483306	Human		name
155990529	CV2160785	single nucleotide variant	NM_004136.4(IREB2):c.1794+17G>C	not provided [RCV003034303]	likely benign	15	78487834	78487834	Human		name
402492516	CV2863245	single nucleotide variant	NM_004136.4(IREB2):c.1952-10T>A	not provided [RCV003573157]	likely benign	15	78488637	78488637	Human		name
405203302	CV2915037	single nucleotide variant	NM_004136.4(IREB2):c.1414-13G>C	not provided [RCV003566094]	likely benign	15	78484748	78484748	Human		name
402518515	CV3002262	single nucleotide variant	NM_004136.4(IREB2):c.1574-12T>C	not provided [RCV003690111]	likely benign	15	78485693	78485693	Human		name
405125136	CV3021168	single nucleotide variant	NM_004136.4(IREB2):c.2077-11T>C	not provided [RCV003701106]	likely benign	15	78490411	78490411	Human		name
405125602	CV3031196	single nucleotide variant	NM_004136.4(IREB2):c.1795-17G>C	not provided [RCV003701204]	likely benign	15	78488163	78488163	Human		name
405225549	CV3142381	single nucleotide variant	NM_004136.4(IREB2):c.1297-14T>C	not provided [RCV003847920]	likely benign	15	78483304	78483304	Human		name
597898973	CV3740887	duplication	NM_004136.4(IREB2):c.1710-10dup	not provided [RCV005072050]	benign	15	78487714	78487715	Human		name
597830422	CV3743003	single nucleotide variant	NM_004136.4(IREB2):c.2596-15G>A	not provided [RCV005062011]	likely benign	15	78497111	78497111	Human		name
597883447	CV3799495	single nucleotide variant	NM_004136.4(IREB2):c.2781+15T>G	not provided [RCV005150162]	likely benign	15	78497326	78497326	Human		name
597901306	CV3851305	single nucleotide variant	NM_004136.4(IREB2):c.2181+16C>T	not provided [RCV005202081]	likely benign	15	78490542	78490542	Human		name
156204295	CV2021380	microsatellite	NM_004136.4(IREB2):c.1024-7TA[2]	not provided [RCV002711512]	uncertain significance	15	78476181	78476182	Human		name
243053408	CV2404586	single nucleotide variant	NM_004136.4(IREB2):c.1024-1244T>A	Lung adenocarcinoma [RCV003129613]	uncertain significance	15	78474944	78474944	Human	2	name
243053504	CV2404622	single nucleotide variant	NM_004136.4(IREB2):c.1023+1037G>A	Lung adenocarcinoma [RCV003129649]	uncertain significance	15	78474418	78474418	Human	2	name
401934310	CV2814392	single nucleotide variant	NM_004136.4(IREB2):c.24C>T (p.Tyr8=)	not provided [RCV003411197]	likely benign	15	78439799	78439799	Human		name
155945225	CV2111501	single nucleotide variant	NM_004136.4(IREB2):c.78C>T (p.Phe26=)	not provided [RCV002904724]	benign\|likely benign	15	78439853	78439853	Human		name
156111538	CV2177405	variation	NM_004136.4(IREB2):c.475= (p.Leu159=)	not provided [RCV003055111]	benign	15	78466335	78466335	Human		name
597974038	CV3801707	deletion	NM_004136.4(IREB2):c.1195+8_1195+9del	not provided [RCV005143696]	likely benign	15	78476366	78476367	Human		name
598199347	CV4007299	single nucleotide variant	NM_004136.4(IREB2):c.7G>C (p.Ala3Pro)	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia [RCV005398127]	uncertain significance	15	78438344	78438344	Human	1	name
156175856	CV2023009	single nucleotide variant	NM_004136.4(IREB2):c.10C>T (p.Pro4Ser)	not provided [RCV002765460]	uncertain significance	15	78438347	78438347	Human		name
156254494	CV2098187	variation	NM_004136.4(IREB2):c.1739= (p.Ile580=)	not provided [RCV002895372]	benign	15	78487762	78487762	Human		name
405249059	CV3180158	single nucleotide variant	NM_004136.4(IREB2):c.225T>C (p.Asn75=)	not provided [RCV003869618]	likely benign	15	78463040	78463040	Human		name
597701061	CV3690286	single nucleotide variant	NM_004136.4(IREB2):c.16G>A (p.Ala6Thr)	Inborn genetic diseases [RCV004987953]	uncertain significance	15	78438353	78438353	Human	1	name
156315851	CV1869785	single nucleotide variant	NM_004136.4(IREB2):c.996C>T (p.Ser332=)	not provided [RCV003062739]	likely benign	15	78473354	78473354	Human		name
156385425	CV1971937	single nucleotide variant	NM_004136.4(IREB2):c.783A>G (p.Ser261=)	not provided [RCV002604261]	likely benign	15	78471824	78471824	Human		name
155978183	CV1972271	single nucleotide variant	NM_004136.4(IREB2):c.981C>T (p.Asn327=)	not provided [RCV002617480]	likely benign	15	78473339	78473339	Human		name
156217495	CV1995517	deletion	NM_004136.4(IREB2):c.1710-11_1710-10del	not provided [RCV002667093]	benign	15	78487715	78487716	Human		name
156234154	CV2076065	single nucleotide variant	NM_004136.4(IREB2):c.40A>G (p.Ile14Val)	not provided [RCV002830163]	uncertain significance	15	78439815	78439815	Human		name
155966617	CV2080789	microsatellite	NM_004136.4(IREB2):c.1795-19_1795-16del	not provided [RCV002863111]	likely benign	15	78488158	78488161	Human		name
156203100	CV2163648	single nucleotide variant	NM_004136.4(IREB2):c.546A>G (p.Glu182=)	not provided [RCV003042042]	likely benign	15	78466406	78466406	Human		name
156111564	CV2177406	single nucleotide variant	NM_004136.4(IREB2):c.613T>C (p.Leu205=)	not provided [RCV003055112]	benign\|likely benign	15	78466473	78466473	Human		name
156261841	CV2282431	single nucleotide variant	NM_004136.4(IREB2):c.86C>T (p.Ser29Phe)	Inborn genetic diseases [RCV002831760]	uncertain significance	15	78439861	78439861	Human	1	name
401916395	CV2814393	single nucleotide variant	NM_004136.4(IREB2):c.822C>T (p.Asp274=)	not provided [RCV003400968]	uncertain significance	15	78471863	78471863	Human		name
405174934	CV2863491	single nucleotide variant	NM_004136.4(IREB2):c.784A>C (p.Arg262=)	not provided [RCV003542651]	benign	15	78471825	78471825	Human		name
405148022	CV2881789	single nucleotide variant	NM_004136.4(IREB2):c.975A>G (p.Ser325=)	not provided [RCV003561515]	likely benign	15	78473333	78473333	Human		name
405220306	CV2884222	single nucleotide variant	NM_004136.4(IREB2):c.321A>G (p.Lys107=)	not provided [RCV003553780]	likely benign	15	78465299	78465299	Human		name
405006293	CV2929562	single nucleotide variant	NM_004136.4(IREB2):c.375A>G (p.Thr125=)	not provided [RCV003576362]	likely benign	15	78465353	78465353	Human		name
405127070	CV2958455	single nucleotide variant	NM_004136.4(IREB2):c.879G>A (p.Gly293=)	not provided [RCV003667954]	likely benign	15	78471920	78471920	Human		name
405221702	CV2966058	single nucleotide variant	NM_004136.4(IREB2):c.922C>T (p.Leu308=)	not provided [RCV003680698]	likely benign	15	78473280	78473280	Human		name
405032593	CV3009146	single nucleotide variant	NM_004136.4(IREB2):c.516T>C (p.Thr172=)	not provided [RCV003695684]	likely benign	15	78466376	78466376	Human		name
405031769	CV3130269	single nucleotide variant	NM_004136.4(IREB2):c.576G>A (p.Ser192=)	not provided [RCV003830676]	likely benign	15	78466436	78466436	Human		name
597701074	CV3690284	single nucleotide variant	NM_004136.4(IREB2):c.67A>G (p.Lys23Glu)	Inborn genetic diseases [RCV004987951]	uncertain significance	15	78439842	78439842	Human	1	name
597871792	CV3737307	single nucleotide variant	NM_004136.4(IREB2):c.762A>G (p.Gln254=)	not provided [RCV005068753]	likely benign	15	78471803	78471803	Human		name
597832317	CV3751332	single nucleotide variant	NM_004136.4(IREB2):c.65A>T (p.His22Leu)	not provided [RCV005084878]	uncertain significance	15	78439840	78439840	Human		name
598199340	CV4007298	single nucleotide variant	NM_004136.4(IREB2):c.68A>G (p.Lys23Arg)	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia [RCV005398126]	uncertain significance	15	78439843	78439843	Human	1	name
15110314	CV714628	single nucleotide variant	NM_004136.4(IREB2):c.804A>G (p.Lys268=)	IREB2-related disorder [RCV003935935]\|not provided [RCV000960874]	benign	15	78471845	78471845	Human	1	name , trait , alternate_id
150521342	CV1290208	single nucleotide variant	NM_004136.4(IREB2):c.2616C>T (p.Ala872=)	IREB2-related disorder [RCV003976115]\|Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia [RCV001731021]\|not provided [RCV002538704]	benign	15	78497146	78497146	Human	8	name , trait , alternate_id
150521342	CV1290208	single nucleotide variant	NM_004136.4(IREB2):c.2616C>T (p.Ala872=)	IREB2-related disorder [RCV003976115]\|Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia [RCV001731021]\|not provided [RCV002538704]	benign	15	78497146	78497147	Human	8	name , trait , alternate_id
156318649	CV1897653	single nucleotide variant	NM_004136.4(IREB2):c.1965C>T (p.Thr655=)	not provided [RCV002579102]	likely benign	15	78488660	78488660	Human		name
156412772	CV1904588	single nucleotide variant	NM_004136.4(IREB2):c.2769A>G (p.Thr923=)	not provided [RCV002587940]	likely benign	15	78497299	78497299	Human		name
156409261	CV1922580	single nucleotide variant	NM_004136.4(IREB2):c.1275A>C (p.Ser425=)	not provided [RCV002607502]	likely benign	15	78478376	78478376	Human		name
156409738	CV1922848	single nucleotide variant	NM_004136.4(IREB2):c.158G>A (p.Cys53Tyr)	not provided [RCV002607646]	uncertain significance	15	78462973	78462973	Human		name
156028592	CV1923049	single nucleotide variant	NM_004136.4(IREB2):c.1788A>G (p.Val596=)	not provided [RCV002637058]	likely benign	15	78487811	78487811	Human		name
156028630	CV1923050	single nucleotide variant	NM_004136.4(IREB2):c.2256A>G (p.Thr752=)	not provided [RCV002637059]	likely benign	15	78490693	78490693	Human		name
156051714	CV1923939	single nucleotide variant	NM_004136.4(IREB2):c.1692A>G (p.Pro564=)	not provided [RCV002637962]	likely benign	15	78485823	78485823	Human		name
156154906	CV1926128	single nucleotide variant	NM_004136.4(IREB2):c.2352C>T (p.Tyr784=)	not provided [RCV002624142]	likely benign	15	78493936	78493936	Human		name
156394549	CV1958772	single nucleotide variant	NM_004136.4(IREB2):c.1356G>A (p.Gln452=)	not provided [RCV002584231]	likely benign	15	78483377	78483377	Human		name
156353265	CV1965625	single nucleotide variant	NM_004136.4(IREB2):c.2817G>A (p.Ser939=)	not provided [RCV002581210]	likely benign	15	78498068	78498068	Human		name
156070227	CV1971772	single nucleotide variant	NM_004136.4(IREB2):c.2436A>G (p.Pro812=)	not provided [RCV002591250]	likely benign	15	78494020	78494020	Human		name
156395482	CV1980369	single nucleotide variant	NM_004136.4(IREB2):c.1386C>T (p.Ser462=)	not provided [RCV002605096]	likely benign	15	78483407	78483407	Human		name
156388916	CV1996046	single nucleotide variant	NM_004136.4(IREB2):c.1644A>C (p.Pro548=)	not provided [RCV002654205]	likely benign	15	78485775	78485775	Human		name
156367909	CV2007461	single nucleotide variant	NM_004136.4(IREB2):c.1255C>A (p.Arg419=)	not provided [RCV002676693]	likely benign	15	78478356	78478356	Human		name
156077568	CV2011860	single nucleotide variant	NM_004136.4(IREB2):c.1032G>A (p.Arg344=)	not provided [RCV002705882]	likely benign	15	78476196	78476196	Human		name
155923112	CV2024057	single nucleotide variant	NM_004136.4(IREB2):c.2253A>G (p.Thr751=)	not provided [RCV002750807]	likely benign	15	78490690	78490690	Human		name
156064921	CV2065535	single nucleotide variant	NM_004136.4(IREB2):c.1575T>G (p.Gly525=)	not provided [RCV002846895]	likely benign	15	78485706	78485706	Human		name
156320558	CV2071367	single nucleotide variant	NM_004136.4(IREB2):c.215A>G (p.Lys72Arg)	not provided [RCV002834665]	uncertain significance	15	78463030	78463030	Human		name
156023725	CV2079310	single nucleotide variant	NM_004136.4(IREB2):c.2274A>C (p.Ala758=)	not provided [RCV002885078]	likely benign	15	78490711	78490711	Human		name
156218751	CV2104681	single nucleotide variant	NM_004136.4(IREB2):c.1980C>T (p.Tyr660=)	not provided [RCV002932371]	likely benign	15	78488675	78488675	Human		name
156217938	CV2111112	single nucleotide variant	NM_004136.4(IREB2):c.1215C>T (p.Leu405=)	IREB2-related disorder [RCV003916618]\|not provided [RCV002932339]	benign\|likely benign	15	78478316	78478316	Human	1	name , trait , alternate_id
156197087	CV2113743	single nucleotide variant	NM_004136.4(IREB2):c.2439T>G (p.Ala813=)	not provided [RCV002957248]	likely benign	15	78494023	78494023	Human		name
155996842	CV2122632	single nucleotide variant	NM_004136.4(IREB2):c.2697A>G (p.Ala899=)	not provided [RCV002974993]	likely benign	15	78497227	78497227	Human		name
156075673	CV2141715	single nucleotide variant	NM_004136.4(IREB2):c.2613G>A (p.Leu871=)	not provided [RCV002979082]	likely benign	15	78497143	78497143	Human		name
156093307	CV2143135	single nucleotide variant	NM_004136.4(IREB2):c.2547T>C (p.Tyr849=)	not provided [RCV002979693]	likely benign	15	78494216	78494216	Human		name
156103940	CV2149285	single nucleotide variant	NM_004136.4(IREB2):c.1500T>G (p.Ser500=)	not provided [RCV003021148]	likely benign	15	78484847	78484847	Human		name
156369655	CV2174326	single nucleotide variant	NM_004136.4(IREB2):c.2041C>T (p.Leu681=)	not provided [RCV003049602]	likely benign	15	78488736	78488736	Human		name
156263952	CV2189070	single nucleotide variant	NM_004136.4(IREB2):c.1521T>C (p.Ala507=)	not provided [RCV003044216]	likely benign	15	78484868	78484868	Human		name
156359912	CV2258023	single nucleotide variant	NM_004136.4(IREB2):c.220A>G (p.Ser74Gly)	Inborn genetic diseases [RCV002812659]	uncertain significance	15	78463035	78463035	Human	1	name
405147269	CV2881635	single nucleotide variant	NM_004136.4(IREB2):c.1230A>G (p.Thr410=)	not provided [RCV003561457]	likely benign	15	78478331	78478331	Human		name
405232783	CV2896431	single nucleotide variant	NM_004136.4(IREB2):c.1719C>T (p.Ile573=)	not provided [RCV003555739]	likely benign	15	78487742	78487742	Human		name
405160787	CV2899326	single nucleotide variant	NM_004136.4(IREB2):c.1434A>G (p.Gln478=)	not provided [RCV003562380]	likely benign	15	78484781	78484781	Human		name
405156727	CV3037443	single nucleotide variant	NM_004136.4(IREB2):c.2661C>T (p.Gly887=)	not provided [RCV003703676]	likely benign	15	78497191	78497191	Human		name
405244374	CV3050582	single nucleotide variant	NM_004136.4(IREB2):c.1497G>A (p.Leu499=)	not provided [RCV003719967]	benign	15	78484844	78484844	Human		name
402468361	CV3174231	single nucleotide variant	NM_004136.4(IREB2):c.1686A>G (p.Val562=)	not provided [RCV003873514]	likely benign	15	78485817	78485817	Human		name
405281919	CV3224596	single nucleotide variant	NM_004136.4(IREB2):c.128G>A (p.Arg43Gln)	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia [RCV003988931]	uncertain significance	15	78462943	78462943	Human	1	name
597911366	CV3745606	single nucleotide variant	NM_004136.4(IREB2):c.1236T>G (p.Leu412=)	not provided [RCV005073607]	likely benign	15	78478337	78478337	Human		name
597854827	CV3747658	single nucleotide variant	NM_004136.4(IREB2):c.2865A>G (p.Leu955=)	not provided [RCV005066669]	likely benign	15	78498116	78498116	Human		name
597926325	CV3748889	single nucleotide variant	NM_004136.4(IREB2):c.2301C>T (p.Ala767=)	not provided [RCV005075345]	likely benign	15	78490738	78490738	Human		name
598194852	CV3979617	single nucleotide variant	NM_004136.4(IREB2):c.242T>G (p.Phe81Cys)	Inborn genetic diseases [RCV005354896]	uncertain significance	15	78463057	78463057	Human	1	name
598170505	CV3979619	single nucleotide variant	NM_004136.4(IREB2):c.279A>G (p.Ile93Met)	Inborn genetic diseases [RCV005370353]	uncertain significance	15	78465257	78465257	Human	1	name
598194857	CV3979621	single nucleotide variant	NM_004136.4(IREB2):c.221G>A (p.Ser74Asn)	Inborn genetic diseases [RCV005354897]	uncertain significance	15	78463036	78463036	Human	1	name
126911968	CV1038360	single nucleotide variant	NM_004136.4(IREB2):c.733A>T (p.Ile245Phe)	not provided [RCV001355986]	uncertain significance	15	78471774	78471774	Human		name
155946107	CV1911312	single nucleotide variant	NM_004136.4(IREB2):c.723T>G (p.Asn241Lys)	not provided [RCV002615942]	uncertain significance	15	78471764	78471764	Human		name
156445860	CV1952106	single nucleotide variant	NM_004136.4(IREB2):c.637A>G (p.Thr213Ala)	Inborn genetic diseases [RCV004634222]\|not provided [RCV003116821]	uncertain significance	15	78470539	78470539	Human	1	name
156223386	CV1960386	single nucleotide variant	NM_004136.4(IREB2):c.551G>A (p.Gly184Asp)	not provided [RCV002575612]	uncertain significance	15	78466411	78466411	Human		name
156365521	CV2020861	single nucleotide variant	NM_004136.4(IREB2):c.465G>T (p.Lys155Asn)	not provided [RCV002721157]	uncertain significance	15	78466325	78466325	Human		name
155982293	CV2098186	single nucleotide variant	NM_004136.4(IREB2):c.475C>G (p.Leu159Val)	not provided [RCV002907766]	benign	15	78466335	78466335	Human		name
156023622	CV2105935	single nucleotide variant	NM_004136.4(IREB2):c.304A>G (p.Met102Val)	not provided [RCV002923187]	likely benign	15	78465282	78465282	Human		name
156324268	CV2108421	single nucleotide variant	NM_004136.4(IREB2):c.656A>C (p.Glu219Ala)	not provided [RCV002937973]	likely benign\|conflicting interpretations of pathogenicity	15	78470558	78470558	Human		name
156120841	CV2128520	single nucleotide variant	NM_004136.4(IREB2):c.526G>A (p.Gly176Arg)	not provided [RCV002953491]	likely benign	15	78466386	78466386	Human		name
156213440	CV2142132	single nucleotide variant	NM_004136.4(IREB2):c.733A>G (p.Ile245Val)	not provided [RCV002985688]	uncertain significance	15	78471774	78471774	Human		name
156313638	CV2143890	single nucleotide variant	NM_004136.4(IREB2):c.816C>G (p.Phe272Leu)	not provided [RCV003011258]	uncertain significance	15	78471857	78471857	Human		name
155918738	CV2152640	single nucleotide variant	NM_004136.4(IREB2):c.496C>A (p.Leu166Ile)	not provided [RCV002991792]	uncertain significance	15	78466356	78466356	Human		name
156062492	CV2162018	single nucleotide variant	NM_004136.4(IREB2):c.509G>A (p.Gly170Asp)	not provided [RCV003019783]	uncertain significance	15	78466369	78466369	Human		name
155962896	CV2183663	single nucleotide variant	NM_004136.4(IREB2):c.314C>T (p.Ala105Val)	not provided [RCV003033030]	uncertain significance	15	78465292	78465292	Human		name
155939091	CV2225332	single nucleotide variant	NM_004136.4(IREB2):c.593C>T (p.Pro198Leu)	Inborn genetic diseases [RCV002751684]	uncertain significance	15	78466453	78466453	Human	1	name
156033410	CV2236238	single nucleotide variant	NM_004136.4(IREB2):c.343A>G (p.Lys115Glu)	Inborn genetic diseases [RCV002758234]	uncertain significance	15	78465321	78465321	Human	1	name
156312159	CV2256827	single nucleotide variant	NM_004136.4(IREB2):c.313G>A (p.Ala105Thr)	Inborn genetic diseases [RCV002809120]	uncertain significance	15	78465291	78465291	Human	1	name
155902913	CV2301538	single nucleotide variant	NM_004136.4(IREB2):c.963G>C (p.Glu321Asp)	Inborn genetic diseases [RCV002901341]	uncertain significance	15	78473321	78473321	Human	1	name
156252523	CV2390048	single nucleotide variant	NM_004136.4(IREB2):c.645A>T (p.Leu215Phe)	Inborn genetic diseases [RCV002768956]	uncertain significance	15	78470547	78470547	Human	1	name
329373944	CV2434603	single nucleotide variant	NM_004136.4(IREB2):c.667G>A (p.Gly223Ser)	Inborn genetic diseases [RCV003173227]	uncertain significance	15	78470569	78470569	Human	1	name
401760927	CV2706148	single nucleotide variant	NM_004136.4(IREB2):c.947A>G (p.Glu316Gly)	Inborn genetic diseases [RCV003257386]	uncertain significance	15	78473305	78473305	Human	1	name
401724339	CV2714804	single nucleotide variant	NM_004136.4(IREB2):c.608T>C (p.Phe203Ser)	Inborn genetic diseases [RCV003268598]	uncertain significance	15	78466468	78466468	Human	1	name
405013720	CV3138823	single nucleotide variant	NM_004136.4(IREB2):c.554G>A (p.Arg185Gln)	not provided [RCV003829159]	uncertain significance	15	78466414	78466414	Human		name
405690770	CV3227440	single nucleotide variant	NM_004136.4(IREB2):c.824G>A (p.Ser275Asn)	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia [RCV003991784]	uncertain significance	15	78471865	78471865	Human	1	name
407523526	CV3455319	single nucleotide variant	NM_004136.4(IREB2):c.971G>A (p.Gly324Glu)	Inborn genetic diseases [RCV004631097]	uncertain significance	15	78473329	78473329	Human	1	name
407523544	CV3455326	single nucleotide variant	NM_004136.4(IREB2):c.383A>T (p.His128Leu)	Inborn genetic diseases [RCV004631104]	uncertain significance	15	78465361	78465361	Human	1	name
597701078	CV3690283	single nucleotide variant	NM_004136.4(IREB2):c.710G>T (p.Arg237Ile)	Inborn genetic diseases [RCV004987950]	uncertain significance	15	78471751	78471751	Human	1	name
598170501	CV3979618	single nucleotide variant	NM_004136.4(IREB2):c.505A>G (p.Arg169Gly)	Inborn genetic diseases [RCV005370352]	uncertain significance	15	78466365	78466365	Human	1	name
8635584	CV90806	single nucleotide variant	NM_004136.4(IREB2):c.811C>T (p.Leu271Phe)	Inborn genetic diseases [RCV005354898]	uncertain significance\|not provided	15	78471852	78471852	Human	1	name
150521256	CV1290206	single nucleotide variant	NM_004136.4(IREB2):c.1739T>C (p.Ile580Thr)	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia [RCV001731019]\|not provided [RCV002538703]	benign	15	78487762	78487762	Human	1	name
152129176	CV1549210	single nucleotide variant	NM_004136.4(IREB2):c.2240G>A (p.Gly747Glu)	IREB2-related disorder [RCV003923714]\|not provided [RCV002099249]	benign\|likely benign	15	78490677	78490677	Human	1	name , trait , alternate_id
152979694	CV1675729	single nucleotide variant	NM_004136.4(IREB2):c.2662A>G (p.Ile888Val)	IREB2-related disorder [RCV003933707]\|not provided [RCV002244320]	benign\|likely benign	15	78497192	78497192	Human	1	name , trait , alternate_id
156397092	CV1870995	single nucleotide variant	NM_004136.4(IREB2):c.2452C>T (p.His818Tyr)	not provided [RCV003068738]	uncertain significance	15	78494036	78494036	Human		name
156106961	CV1903628	single nucleotide variant	NM_004136.4(IREB2):c.1966G>A (p.Gly656Ser)	not provided [RCV003080820]	uncertain significance	15	78488661	78488661	Human		name
156416460	CV1905193	single nucleotide variant	NM_004136.4(IREB2):c.1499C>G (p.Ser500Cys)	not provided [RCV002610187]	uncertain significance	15	78484846	78484846	Human		name
156104755	CV1907356	single nucleotide variant	NM_004136.4(IREB2):c.2666C>T (p.Ala889Val)	not provided [RCV003080739]	uncertain significance	15	78497196	78497196	Human		name
156134541	CV1914513	single nucleotide variant	NM_004136.4(IREB2):c.2749G>A (p.Glu917Lys)	not provided [RCV002623438]	uncertain significance	15	78497279	78497279	Human		name
156087640	CV1919588	single nucleotide variant	NM_004136.4(IREB2):c.1600G>A (p.Ala534Thr)	Inborn genetic diseases [RCV002591795]\|not provided [RCV002591796]	uncertain significance	15	78485731	78485731	Human	1	name
156404042	CV1920285	single nucleotide variant	NM_004136.4(IREB2):c.1231T>C (p.Tyr411His)	not provided [RCV002606014]	uncertain significance	15	78478332	78478332	Human		name
156058565	CV1930845	single nucleotide variant	NM_004136.4(IREB2):c.1610G>A (p.Arg537His)	not provided [RCV002638201]	likely benign	15	78485741	78485741	Human		name
156302300	CV1955643	single nucleotide variant	NM_004136.4(IREB2):c.2542A>G (p.Lys848Glu)	not provided [RCV002578281]	uncertain significance	15	78494211	78494211	Human		name
156266725	CV1957010	single nucleotide variant	NM_004136.4(IREB2):c.1111A>G (p.Ile371Val)	not provided [RCV002577029]	uncertain significance	15	78476275	78476275	Human		name
156394479	CV1958760	single nucleotide variant	NM_004136.4(IREB2):c.2320A>G (p.Arg774Gly)	not provided [RCV002584222]	uncertain significance	15	78490757	78490757	Human		name
156335172	CV1966810	single nucleotide variant	NM_004136.4(IREB2):c.1273T>G (p.Ser425Ala)	not provided [RCV002600993]	uncertain significance	15	78478374	78478374	Human		name
156073220	CV1968964	single nucleotide variant	NM_004136.4(IREB2):c.2646T>G (p.His882Gln)	not provided [RCV002621308]	uncertain significance	15	78497176	78497176	Human		name
156112074	CV1988841	single nucleotide variant	NM_004136.4(IREB2):c.2651T>C (p.Ile884Thr)	not provided [RCV002622617]	uncertain significance	15	78497181	78497181	Human		name
156347744	CV1995397	single nucleotide variant	NM_004136.4(IREB2):c.1127C>T (p.Pro376Leu)	not provided [RCV002650661]	uncertain significance	15	78476291	78476291	Human		name
156213074	CV1997229	single nucleotide variant	NM_004136.4(IREB2):c.1330T>A (p.Ser444Thr)	Inborn genetic diseases [RCV004983062]\|not provided [RCV002666917]	uncertain significance	15	78483351	78483351	Human	1	name
156393928	CV2002600	single nucleotide variant	NM_004136.4(IREB2):c.2795A>G (p.Lys932Arg)	not provided [RCV002681044]	uncertain significance	15	78498046	78498046	Human		name
156255476	CV2003766	single nucleotide variant	NM_004136.4(IREB2):c.2810T>C (p.Ile937Thr)	Inborn genetic diseases [RCV005350988]\|not provided [RCV002627591]	uncertain significance	15	78498061	78498061	Human	1	name
156090810	CV2016352	single nucleotide variant	NM_004136.4(IREB2):c.2774A>C (p.Asn925Thr)	not provided [RCV002706304]	uncertain significance	15	78497304	78497304	Human		name
156021481	CV2055539	single nucleotide variant	NM_004136.4(IREB2):c.2855G>C (p.Gly952Ala)	not provided [RCV002820636]	uncertain significance	15	78498106	78498106	Human		name
156021067	CV2058944	single nucleotide variant	NM_004136.4(IREB2):c.1741T>C (p.Cys581Arg)	not provided [RCV002820616]	uncertain significance	15	78487764	78487764	Human		name
155953095	CV2073268	single nucleotide variant	NM_004136.4(IREB2):c.1760C>T (p.Pro587Leu)	not provided [RCV002816376]	uncertain significance	15	78487783	78487783	Human		name
156018213	CV2083766	single nucleotide variant	NM_004136.4(IREB2):c.1790A>C (p.Lys597Thr)	not provided [RCV002866469]	uncertain significance	15	78487813	78487813	Human		name
156098450	CV2103033	single nucleotide variant	NM_004136.4(IREB2):c.2393C>T (p.Thr798Ile)	not provided [RCV002913310]	uncertain significance	15	78493977	78493977	Human		name
155944524	CV2111385	single nucleotide variant	NM_004136.4(IREB2):c.2194A>T (p.Ile732Phe)	not provided [RCV002904686]	benign	15	78490631	78490631	Human		name
156214274	CV2114694	single nucleotide variant	NM_004136.4(IREB2):c.2476G>T (p.Asp826Tyr)	not provided [RCV002932194]	likely benign	15	78494145	78494145	Human		name
155941460	CV2119883	single nucleotide variant	NM_004136.4(IREB2):c.1585A>G (p.Lys529Glu)	not provided [RCV002971312]	uncertain significance	15	78485716	78485716	Human		name
155935272	CV2125622	single nucleotide variant	NM_004136.4(IREB2):c.2111C>T (p.Pro704Leu)	not provided [RCV002970895]	uncertain significance	15	78490456	78490456	Human		name
155930574	CV2129125	single nucleotide variant	NM_004136.4(IREB2):c.1222A>G (p.Met408Val)	Inborn genetic diseases [RCV002970609]\|not provided [RCV002970610]	likely benign	15	78478323	78478323	Human	1	name
156091873	CV2135585	single nucleotide variant	NM_004136.4(IREB2):c.2089C>T (p.Arg697Trp)	not provided [RCV003001862]	uncertain significance	15	78490434	78490434	Human		name
155910800	CV2141592	single nucleotide variant	NM_004136.4(IREB2):c.2345A>G (p.Asn782Ser)	not provided [RCV002968035]	uncertain significance	15	78493929	78493929	Human		name
156095962	CV2163371	single nucleotide variant	NM_004136.4(IREB2):c.1251G>T (p.Leu417Phe)	not provided [RCV003038392]	uncertain significance	15	78478352	78478352	Human		name
156185998	CV2169341	single nucleotide variant	NM_004136.4(IREB2):c.1323A>G (p.Ile441Met)	not provided [RCV003041501]	uncertain significance	15	78483344	78483344	Human		name
156299865	CV2170010	single nucleotide variant	NM_004136.4(IREB2):c.2657T>C (p.Ile886Thr)	not provided [RCV003045499]	uncertain significance	15	78497187	78497187	Human		name
156137552	CV2196267	single nucleotide variant	NM_004136.4(IREB2):c.2471C>T (p.Thr824Met)	Inborn genetic diseases [RCV002641074]	uncertain significance	15	78494055	78494055	Human	1	name
156400347	CV2199126	single nucleotide variant	NM_004136.4(IREB2):c.1093A>G (p.Ile365Val)	Inborn genetic diseases [RCV002656465]	uncertain significance	15	78476257	78476257	Human	1	name
156302815	CV2311991	single nucleotide variant	NM_004136.4(IREB2):c.1193C>A (p.Thr398Lys)	Inborn genetic diseases [RCV002898097]	uncertain significance	15	78476357	78476357	Human	1	name
155928375	CV2391717	single nucleotide variant	NM_004136.4(IREB2):c.1471C>G (p.His491Asp)	Inborn genetic diseases [RCV002773951]	uncertain significance	15	78484818	78484818	Human	1	name
329371441	CV2458125	single nucleotide variant	NM_004136.4(IREB2):c.1656G>A (p.Met552Ile)	Inborn genetic diseases [RCV003209753]	uncertain significance	15	78485787	78485787	Human	1	name
401768275	CV2675219	single nucleotide variant	NM_004136.4(IREB2):c.2887T>C (p.Ser963Pro)	Inborn genetic diseases [RCV003260085]	uncertain significance	15	78498138	78498138	Human	1	name
401782396	CV2686799	single nucleotide variant	NM_004136.4(IREB2):c.1414G>A (p.Val472Ile)	Inborn genetic diseases [RCV003265727]	uncertain significance	15	78484761	78484761	Human	1	name
401779129	CV2702211	single nucleotide variant	NM_004136.4(IREB2):c.1121T>C (p.Met374Thr)	Inborn genetic diseases [RCV003287421]	uncertain significance	15	78476285	78476285	Human	1	name
401768781	CV2716728	single nucleotide variant	NM_004136.4(IREB2):c.1757C>T (p.Ala586Val)	Inborn genetic diseases [RCV003283303]	uncertain significance	15	78487780	78487780	Human	1	name
401878587	CV2754703	single nucleotide variant	NM_004136.4(IREB2):c.1040G>A (p.Gly347Glu)	Inborn genetic diseases [RCV003349082]	uncertain significance	15	78476204	78476204	Human	1	name
401876623	CV2757183	single nucleotide variant	NM_004136.4(IREB2):c.2789C>G (p.Thr930Ser)	Inborn genetic diseases [RCV003363267]	uncertain significance	15	78498040	78498040	Human	1	name
405163678	CV2905580	single nucleotide variant	NM_004136.4(IREB2):c.1387G>A (p.Asp463Asn)	not provided [RCV003562572]	uncertain significance	15	78483408	78483408	Human		name
405801242	CV3271339	single nucleotide variant	NM_004136.4(IREB2):c.1379T>C (p.Met460Thr)	Inborn genetic diseases [RCV004403227]	uncertain significance	15	78483400	78483400	Human	1	name
405801240	CV3271340	single nucleotide variant	NM_004136.4(IREB2):c.1915G>A (p.Gly639Ser)	Inborn genetic diseases [RCV004403228]	uncertain significance	15	78488300	78488300	Human	1	name
405801238	CV3271341	single nucleotide variant	NM_004136.4(IREB2):c.2773A>T (p.Asn925Tyr)	Inborn genetic diseases [RCV004403229]	uncertain significance	15	78497303	78497303	Human	1	name
407523523	CV3455318	single nucleotide variant	NM_004136.4(IREB2):c.1216G>A (p.Glu406Lys)	Inborn genetic diseases [RCV004631096]	likely benign	15	78478317	78478317	Human	1	name
407523528	CV3455320	single nucleotide variant	NM_004136.4(IREB2):c.2744C>G (p.Pro915Arg)	Inborn genetic diseases [RCV004631098]	uncertain significance	15	78497274	78497274	Human	1	name
407523531	CV3455321	single nucleotide variant	NM_004136.4(IREB2):c.2038A>G (p.Ile680Val)	Inborn genetic diseases [RCV004631099]	likely benign	15	78488733	78488733	Human	1	name
407523533	CV3455322	single nucleotide variant	NM_004136.4(IREB2):c.1567G>T (p.Ala523Ser)	Inborn genetic diseases [RCV004631100]	uncertain significance	15	78484914	78484914	Human	1	name
407523535	CV3455323	single nucleotide variant	NM_004136.4(IREB2):c.2146A>G (p.Thr716Ala)	Inborn genetic diseases [RCV004631101]	uncertain significance	15	78490491	78490491	Human	1	name
407523538	CV3455324	single nucleotide variant	NM_004136.4(IREB2):c.1771G>A (p.Ala591Thr)	Inborn genetic diseases [RCV004631102]	uncertain significance	15	78487794	78487794	Human	1	name
597701086	CV3690282	single nucleotide variant	NM_004136.4(IREB2):c.1189C>T (p.His397Tyr)	Inborn genetic diseases [RCV004987949]	uncertain significance	15	78476353	78476353	Human	1	name
597701068	CV3690285	single nucleotide variant	NM_004136.4(IREB2):c.2639A>C (p.Lys880Thr)	Inborn genetic diseases [RCV004987952]	uncertain significance	15	78497169	78497169	Human	1	name
597701057	CV3690287	single nucleotide variant	NM_004136.4(IREB2):c.1678A>G (p.Ser560Gly)	Inborn genetic diseases [RCV004987954]	uncertain significance	15	78485809	78485809	Human	1	name
597947697	CV3852323	single nucleotide variant	NM_004136.4(IREB2):c.1919C>T (p.Thr640Ile)	not provided [RCV005189400]	uncertain significance	15	78488304	78488304	Human		name
598170499	CV3979616	single nucleotide variant	NM_004136.4(IREB2):c.2585C>T (p.Pro862Leu)	Inborn genetic diseases [RCV005370351]	uncertain significance	15	78494254	78494254	Human	1	name
598170508	CV3979620	single nucleotide variant	NM_004136.4(IREB2):c.1380G>A (p.Met460Ile)	Inborn genetic diseases [RCV005370354]	uncertain significance	15	78483401	78483401	Human	1	name
14691146	CV621892	single nucleotide variant	NM_004136.4(IREB2):c.1255C>T (p.Arg419Ter)	NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOSIS AND MICROCYTIC ANEMIA [RCV000781945]\|Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia [RCV000853518]	pathogenic\|likely pathogenic	15	78478356	78478356	Human	1	name
15167535	CV726271	single nucleotide variant	NM_004136.4(IREB2):c.2194A>G (p.Ile732Val)	IREB2-related disorder [RCV003955855]\|not provided [RCV000882866]	benign\|likely benign	15	78490631	78490631	Human	1	name , trait , alternate_id
155913639	CV2021852	deletion	NM_004136.4(IREB2):c.1120_1121del (p.Met374fs)	not provided [RCV002726984]	uncertain significance	15	78476284	78476285	Human		name
15040513	CV682170	deletion	NM_004136.4(IREB2):c.1329_1331del (p.Ser444del)	NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOSIS AND MICROCYTIC ANEMIA [RCV000855663]\|Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia [RCV001089992]	pathogenic\|uncertain significance	15	78483349	78483351	Human	1	name
155952492	CV2169780	indel	NM_004136.4(IREB2):c.562_563delinsTT (p.Gly188Leu)	not provided [RCV003014924]	uncertain significance	15	78466422	78466423	Human		name
14691147	CV621893	single nucleotide variant	NM_004136.4(IREB2):c.1069G>T (p.Gly357Ter) AND NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOSIS	NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOSIS AND MICROCYTIC ANEMIA [RCV000855550]\|Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia [RCV000781946]	pathogenic\|likely pathogenic	15	78476233	78476233	Human	1	name
15040512	CV682169	single nucleotide variant	NM_004136.4(IREB2):c.2353G>A (p.Gly785Arg) AND NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOSIS	NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOSIS AND MICROCYTIC ANEMIA [RCV000855662]\|Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia [RCV001089993]	pathogenic\|uncertain significance	15	78493937	78493937	Human	1	name

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