Ebf3 Variant Search Result - Rat Genome Database

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284 records found for search term Ebf3

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
617153699	CV4016774	single nucleotide variant	NM_001375380.1(EBF3):c.*9A>G	not provided [RCV005415871]	uncertain significance	10	129837934	129837934	Human		name
15100546	CV783557	single nucleotide variant	NM_001375380.1(EBF3):c.*8A>T	not provided [RCV000975428]	likely benign	10	129837935	129837935	Human		name
153305477	CV1688562	single nucleotide variant	NM_001375380.1(EBF3):c.*10T>C	not specified [RCV002266298]	uncertain significance	10	129837933	129837933	Human		name
405270665	CV3219722	single nucleotide variant	NM_001375380.1(EBF3):c.-10A>G	EBF3-related disorder [RCV004545635]	likely benign	10	129963778	129963778	Human	1	name , trait
126734554	CV1020698	deletion	NM_001375380.1(EBF3):c.291+2del	Hypotonia, ataxia, and delayed development syndrome [RCV001334634]	pathogenic	10	129963365	129963365	Human	1	name
127235735	CV1061875	single nucleotide variant	NM_001375380.1(EBF3):c.554+4A>C	not provided [RCV001382465]	pathogenic	10	129957254	129957254	Human		name
127230255	CV1087061	single nucleotide variant	NM_001375380.1(EBF3):c.291+1G>A	See cases [RCV001420194]	pathogenic	10	129963366	129963366	Human		name
150533675	CV1299026	single nucleotide variant	NM_001375380.1(EBF3):c.292-6T>G	not provided [RCV001754934]	uncertain significance	10	129963011	129963011	Human		name
152156589	CV1668568	single nucleotide variant	NM_001375380.1(EBF3):c.292-2A>G	not provided [RCV002222850]	pathogenic	10	129963007	129963007	Human		name
153346051	CV1691551	single nucleotide variant	NM_001375380.1(EBF3):c.554+5G>A	Hypotonia, ataxia, and delayed development syndrome [RCV002273034]	uncertain significance	10	129957253	129957253	Human	1	name
156192802	CV2289464	single nucleotide variant	NM_001375380.1(EBF3):c.134+4C>T	Inborn genetic diseases [RCV002874343]	uncertain significance	10	129963631	129963631	Human	1	name
243058485	CV2412449	single nucleotide variant	NM_001375380.1(EBF3):c.356-4G>C	Hypotonia, ataxia, and delayed development syndrome [RCV003146991]	uncertain significance	10	129962230	129962230	Human	1	name
401915864	CV2795369	single nucleotide variant	NM_001375380.1(EBF3):c.135-2A>G	Neurodevelopmental disorder [RCV003389204]	uncertain significance	10	129963525	129963525	Human	1	name
401903914	CV2809760	single nucleotide variant	NM_001375380.1(EBF3):c.912+6C>T	not provided [RCV003394603]	uncertain significance	10	129867776	129867776	Human		name
405289049	CV3193966	single nucleotide variant	NM_001375380.1(EBF3):c.412-7C>T	EBF3-related disorder [RCV004544162]	likely benign	10	129959014	129959014	Human	1	name , trait
596926937	CV3530917	single nucleotide variant	NM_001375380.1(EBF3):c.486-7T>G	not provided [RCV004778502]	uncertain significance	10	129957333	129957333	Human		name
596945458	CV3547919	single nucleotide variant	NM_001375380.1(EBF3):c.486-5C>T	not provided [RCV004809250]	likely benign	10	129957331	129957331	Human		name
13207936	CV424471	single nucleotide variant	NM_001375380.1(EBF3):c.486-1G>A	Hypotonia, ataxia, and delayed development syndrome [RCV003139699]\|not provided [RCV000495980]	pathogenic	10	129957327	129957327	Human	1	name
13475313	CV444571	deletion	NM_001375380.1(EBF3):c.486-5del	not provided [RCV000519858]	uncertain significance	10	129957331	129957331	Human		name
25327810	CV816373	single nucleotide variant	NM_001375380.1(EBF3):c.636+1G>A	Hypotonia, ataxia, and delayed development syndrome [RCV001027864]	pathogenic	10	129877767	129877767	Human	1	name
38596710	CV964034	single nucleotide variant	NM_001375380.1(EBF3):c.135-7C>T	Intellectual disability [RCV001252226]	likely benign	10	129963530	129963530	Human	2	name
41408231	CV980937	single nucleotide variant	NM_001375380.1(EBF3):c.412-2A>T	Hypotonia, ataxia, and delayed development syndrome [RCV001283832]	likely pathogenic	10	129959009	129959009	Human	1	name
126725502	CV1017272	single nucleotide variant	NM_001375380.1(EBF3):c.1372+3A>G	Hypotonia, ataxia, and delayed development syndrome [RCV001331435]	uncertain significance	10	129842113	129842113	Human	1	name
150529780	CV1289748	single nucleotide variant	NM_001375380.1(EBF3):c.486-10T>G	Hypotonia, ataxia, and delayed development syndrome [RCV001730155]	uncertain significance	10	129957336	129957336	Human	1	name
156189171	CV1867202	single nucleotide variant	NM_001375380.1(EBF3):c.486-12A>G	Hypotonia, ataxia, and delayed development syndrome [RCV002508853]	likely pathogenic	10	129957338	129957338	Human	1	name
10406546	CV209338	single nucleotide variant	NM_001375380.1(EBF3):c.1128+1G>T	Hypotonia, ataxia, and delayed development syndrome [RCV005255485]	pathogenic\|uncertain significance	10	129848391	129848391	Human	1	name
155903920	CV2282317	deletion	NM_001375380.1(EBF3):c.1373-2del	Inborn genetic diseases [RCV002836919]	uncertain significance	10	129841034	129841034	Human	1	name
401925111	CV2805249	single nucleotide variant	NM_001375380.1(EBF3):c.412-11C>A	not specified [RCV003405070]	likely benign	10	129959018	129959018	Human		name
405271207	CV3209351	deletion	NM_001375380.1(EBF3):c.1040-7del	EBF3-related disorder [RCV004543963]	likely benign	10	129848487	129848487	Human	1	name , trait
597832855	CV3762158	single nucleotide variant	NM_001375380.1(EBF3):c.1373-2A>C	Hypotonia, ataxia, and delayed development syndrome [RCV005087576]	likely pathogenic	10	129841034	129841034	Human	1	name
15175872	CV775466	single nucleotide variant	NM_001375380.1(EBF3):c.1129-7C>G	not provided [RCV000928783]	likely benign	10	129843209	129843209	Human		name
21071994	CV790944	single nucleotide variant	NM_001375380.1(EBF3):c.1128+1G>C	Hypotonia, ataxia, and delayed development syndrome [RCV000988458]	pathogenic	10	129848391	129848391	Human	1	name
38596711	CV964033	single nucleotide variant	NM_001375380.1(EBF3):c.1759+8T>G	Intellectual disability [RCV001252227]	likely benign	10	129840237	129840237	Human	2	name
152981725	CV1677026	deletion	NM_001375380.1(EBF3):c.1373-11del	not specified [RCV002248094]	benign	10	129841043	129841043	Human		name
405276581	CV3198582	single nucleotide variant	NM_001375380.1(EBF3):c.1373-10A>G	EBF3-related disorder [RCV004536950]	likely benign	10	129841042	129841042	Human	1	name , trait
8651753	CV128328	single nucleotide variant	NM_001005463.2(EBF3):c.1625-178C>A	Lung cancer [RCV000108815]	uncertain significance	10	129838138	129838138	Human		name
8651754	CV128329	single nucleotide variant	NM_001005463.2(EBF3):c.754+1692G>C	Lung cancer [RCV000108816]	uncertain significance	10	129871787	129871787	Human		name
8651755	CV128330	single nucleotide variant	NM_001005463.2(EBF3):c.555-36857T>C	Lung cancer [RCV000108817]	uncertain significance	10	129914706	129914706	Human		name
40886731	CV973745	deletion	NM_001375380.1(EBF3):c.289_291+1del	Inborn genetic diseases [RCV001265957]	pathogenic	10	129963366	129963369	Human	1	name
151350612	CV1325731	deletion	NM_001375380.1(EBF3):c.134+15_134+35del	not specified [RCV001815076]	likely benign	10	129963600	129963620	Human		name
156346640	CV2305417	single nucleotide variant	NM_001375380.1(EBF3):c.6T>G (p.Phe2Leu)	Inborn genetic diseases [RCV002939266]	uncertain significance	10	129963763	129963763	Human	1	name
15174936	CV767664	single nucleotide variant	NM_001375380.1(EBF3):c.42C>A (p.Thr14=)	not provided [RCV000928556]	benign	10	129963727	129963727	Human		name
150511283	CV1212694	single nucleotide variant	NM_001375380.1(EBF3):c.229A>C (p.Arg77=)	not provided [RCV001597925]	benign	10	129963429	129963429	Human		name
401903918	CV2809762	single nucleotide variant	NM_001375380.1(EBF3):c.117C>G (p.Ala39=)	not provided [RCV003394605]	likely benign	10	129963652	129963652	Human		name
15139297	CV752029	single nucleotide variant	NM_001375380.1(EBF3):c.151C>A (p.Arg51=)	not provided [RCV000921480]	likely benign	10	129963507	129963507	Human		name
15100435	CV783558	single nucleotide variant	NM_001375380.1(EBF3):c.183C>T (p.Asn61=)	not provided [RCV000975410]	likely benign	10	129963475	129963475	Human		name
126734559	CV1020700	single nucleotide variant	NM_001375380.1(EBF3):c.82C>A (p.Arg28Ser)	Hypotonia, ataxia, and delayed development syndrome [RCV001334635]	uncertain significance	10	129963687	129963687	Human	1	name
8647043	CV106679	single nucleotide variant	NM_001375380.1(EBF3):c.534A>T (p.Ser178=)	not provided [RCV000087177]	uncertain significance	10	129957278	129957278	Human		name
150332786	CV1169380	single nucleotide variant	NM_001375380.1(EBF3):c.89G>A (p.Trp30Ter)	not provided [RCV001537026]	pathogenic	10	129963680	129963680	Human		name
150541297	CV1298742	single nucleotide variant	NM_001375380.1(EBF3):c.32G>A (p.Gly11Glu)	not provided [RCV001760890]	uncertain significance	10	129963737	129963737	Human		name
150551796	CV1298901	duplication	NM_001375380.1(EBF3):c.239dup (p.Pro81fs)	Hypotonia, ataxia, and delayed development syndrome [RCV001754540]	pathogenic	10	129963418	129963419	Human	1	name
155973151	CV2271614	single nucleotide variant	NM_001375380.1(EBF3):c.62G>C (p.Gly21Ala)	Inborn genetic diseases [RCV002817891]	uncertain significance	10	129963707	129963707	Human	1	name
243058480	CV2412446	single nucleotide variant	NM_001375380.1(EBF3):c.66C>G (p.Ser22Arg)	Hypotonia, ataxia, and delayed development syndrome [RCV003146988]	uncertain significance	10	129963703	129963703	Human	1	name
243058484	CV2412448	single nucleotide variant	NM_001375380.1(EBF3):c.828G>A (p.Thr276=)	Hypotonia, ataxia, and delayed development syndrome [RCV003146990]	uncertain significance	10	129867866	129867866	Human	1	name
401899055	CV2785986	single nucleotide variant	NM_001375380.1(EBF3):c.35G>A (p.Gly12Glu)	Inborn genetic diseases [RCV003377215]	uncertain significance	10	129963734	129963734	Human	1	name
401896724	CV2792033	single nucleotide variant	NM_001375380.1(EBF3):c.29G>A (p.Arg10His)	Inborn genetic diseases [RCV003374336]	uncertain significance	10	129963740	129963740	Human	1	name
401931633	CV2801410	deletion	NM_001375380.1(EBF3):c.117del (p.Asn40fs)	EBF3-related disorder [RCV004528777]	likely pathogenic	10	129963652	129963652	Human	1	name , trait
401903912	CV2809759	single nucleotide variant	NM_001375380.1(EBF3):c.948G>A (p.Pro316=)	not provided [RCV003394602]	likely benign	10	129867232	129867232	Human		name
401903917	CV2809761	single nucleotide variant	NM_001375380.1(EBF3):c.639T>G (p.Val213=)	not provided [RCV003394604]	likely benign	10	129873594	129873594	Human		name
401942983	CV2839940	duplication	NM_001375380.1(EBF3):c.237dup (p.Gln80fs)	not provided [RCV003456727]	pathogenic	10	129963420	129963421	Human		name
405867564	CV2842297	single nucleotide variant	NM_001375380.1(EBF3):c.747G>A (p.Pro249=)	EBV-positive nodal T- and NK-cell lymphoma [RCV004560246]	likely benign	10	129873486	129873486	Human		name
405260561	CV3185810	single nucleotide variant	NM_001375380.1(EBF3):c.61G>A (p.Gly21Ser)	not provided [RCV003884886]	likely benign	10	129963708	129963708	Human		name
405275424	CV3196323	single nucleotide variant	NM_001375380.1(EBF3):c.966C>T (p.Gly322=)	EBF3-related disorder [RCV004540930]	likely benign	10	129867214	129867214	Human	1	name , trait
405262412	CV3200257	single nucleotide variant	NM_001375380.1(EBF3):c.687A>C (p.Ser229=)	EBF3-related disorder [RCV004542501]	likely benign	10	129873546	129873546	Human	1	name , trait
405280094	CV3200311	single nucleotide variant	NM_001375380.1(EBF3):c.681C>T (p.Ala227=)	EBF3-related disorder [RCV004542506]	likely benign	10	129873552	129873552	Human	1	name , trait
405268458	CV3201031	single nucleotide variant	NM_001375380.1(EBF3):c.552C>T (p.Asp184=)	EBF3-related disorder [RCV004531829]	likely benign	10	129957260	129957260	Human	1	name , trait
405269251	CV3201290	single nucleotide variant	NM_001375380.1(EBF3):c.489G>T (p.Arg163=)	EBF3-related disorder [RCV004531870]	likely benign	10	129957323	129957323	Human	1	name , trait
405753557	CV3238340	single nucleotide variant	NM_001375380.1(EBF3):c.79G>A (p.Val27Met)	Inborn genetic diseases [RCV004382216]	likely benign	10	129963690	129963690	Human	1	name
408378538	CV3500947	single nucleotide variant	NM_001375380.1(EBF3):c.318C>T (p.Asn106=)	not provided [RCV004722597]	likely benign	10	129962979	129962979	Human		name
408367964	CV3509969	single nucleotide variant	NM_001375380.1(EBF3):c.789G>A (p.Pro263=)	EBF3-related disorder [RCV004733769]	likely benign	10	129867905	129867905	Human	1	name , trait
408367972	CV3510485	single nucleotide variant	NM_001375380.1(EBF3):c.969C>T (p.Val323=)	EBF3-related disorder [RCV004733777]	likely benign	10	129867211	129867211	Human	1	name , trait
597935015	CV3863590	single nucleotide variant	NM_001375380.1(EBF3):c.83G>C (p.Arg28Pro)	not provided [RCV005207403]	uncertain significance	10	129963686	129963686	Human		name
13207932	CV424473	deletion	NM_001375380.1(EBF3):c.244del (p.Val82fs)	not provided [RCV000495974]	pathogenic	10	129963414	129963414	Human		name
13520502	CV495665	deletion	NM_001375380.1(EBF3):c.171del (p.Gln57fs)	not provided [RCV000598685]	pathogenic	10	129963487	129963487	Human		name
14396016	CV611730	single nucleotide variant	NM_001375380.1(EBF3):c.86C>A (p.Ser29Ter)	not provided [RCV000760740]	pathogenic	10	129963683	129963683	Human		name
15191732	CV723847	single nucleotide variant	NM_001375380.1(EBF3):c.840C>T (p.Thr280=)	not provided [RCV000888462]	likely benign	10	129867854	129867854	Human		name
15196096	CV723848	single nucleotide variant	NM_001375380.1(EBF3):c.432G>A (p.Gln144=)	EBF3-related disorder [RCV004530960]\|not provided [RCV000889685]	benign\|likely benign	10	129958987	129958987	Human	1	name , trait
15193425	CV723849	single nucleotide variant	NM_001375380.1(EBF3):c.97A>G (p.Thr33Ala)	Inborn genetic diseases [RCV005328427]\|not provided [RCV000888943]	benign\|likely benign	10	129963672	129963672	Human	1	name
8633549	CV88764	single nucleotide variant	NM_001005463.2(EBF3):c.906C>T (p.Ile302=)	Malignant melanoma [RCV000068859]	not provided	10	129867247	129867247	Human		name
126734549	CV1020699	single nucleotide variant	NM_001375380.1(EBF3):c.220C>T (p.Leu74Phe)	Hypotonia, ataxia, and delayed development syndrome [RCV001334633]	uncertain significance	10	129963438	129963438	Human	1	name
150455218	CV1036508	duplication	NM_001375380.1(EBF3):c.622dup (p.Met208fs)	Hypotonia, ataxia, and delayed development syndrome [RCV001594472]	pathogenic	10	129877781	129877782	Human	1	name
150452630	CV1275296	single nucleotide variant	NM_001375380.1(EBF3):c.187C>T (p.Arg63Trp)	Hypotonia, ataxia, and delayed development syndrome [RCV001706809]\|not provided [RCV005001233]	likely pathogenic\|uncertain significance	10	129963471	129963471	Human	1	name
150549003	CV1294640	single nucleotide variant	NM_001375380.1(EBF3):c.249G>T (p.Glu83Asp)	not provided [RCV001752132]	uncertain significance	10	129963409	129963409	Human		name
150549950	CV1299746	single nucleotide variant	NM_001375380.1(EBF3):c.155C>T (p.Ala52Val)	not provided [RCV001752672]	uncertain significance	10	129963503	129963503	Human		name
150543876	CV1304231	indel	NM_001375380.1(EBF3):c.782-4_782-3delinsAG	not provided [RCV001771201]	uncertain significance	10	129867915	129867916	Human		name
152042215	CV1669974	single nucleotide variant	NM_001375380.1(EBF3):c.1032C>T (p.Val344=)	not provided [RCV002224876]	uncertain significance	10	129867148	129867148	Human		name
152982394	CV1677332	single nucleotide variant	NM_001375380.1(EBF3):c.188G>A (p.Arg63Gln)	Hypotonia, ataxia, and delayed development syndrome [RCV002249038]\|not provided [RCV005235640]	pathogenic\|likely pathogenic	10	129963470	129963470	Human	1	name
155643802	CV1708109	duplication	NM_001375380.1(EBF3):c.947dup (p.Pro317fs)	Hypotonia, ataxia, and delayed development syndrome [RCV002290097]	likely pathogenic	10	129867232	129867233	Human	1	name
156435066	CV2403341	single nucleotide variant	NM_001375380.1(EBF3):c.146T>C (p.Leu49Pro)	Autism spectrum disorder [RCV003127277]	likely benign	10	129963512	129963512	Human	2	name
156435252	CV2403489	single nucleotide variant	NM_001375380.1(EBF3):c.232C>T (p.Gln78Ter)	Autism spectrum disorder [RCV003127425]	pathogenic	10	129963426	129963426	Human	2	name
243058489	CV2412451	single nucleotide variant	NM_001375380.1(EBF3):c.1875A>G (p.Leu625=)	Hypotonia, ataxia, and delayed development syndrome [RCV003146993]	uncertain significance	10	129837958	129837958	Human	1	name
401907769	CV2801185	single nucleotide variant	NM_001375380.1(EBF3):c.244G>A (p.Val82Met)	EBF3-related disorder [RCV004528539]	uncertain significance	10	129963414	129963414	Human	1	name , trait
401903908	CV2809757	single nucleotide variant	NM_001375380.1(EBF3):c.1365C>T (p.Asn455=)	not provided [RCV003394600]	likely benign	10	129842123	129842123	Human		name
401903910	CV2809758	single nucleotide variant	NM_001375380.1(EBF3):c.1353G>A (p.Thr451=)	not provided [RCV003394601]	likely benign	10	129842135	129842135	Human		name
405268933	CV3201212	single nucleotide variant	NM_001375380.1(EBF3):c.1200C>A (p.Ile400=)	EBF3-related disorder [RCV004531862]	likely benign	10	129842288	129842288	Human	1	name , trait
405255905	CV3208428	single nucleotide variant	NM_001375380.1(EBF3):c.1218G>A (p.Ala406=)	EBF3-related disorder [RCV004532237]	likely benign	10	129842270	129842270	Human	1	name , trait
405289840	CV3219054	single nucleotide variant	NM_001375380.1(EBF3):c.1335C>T (p.Ala445=)	EBF3-related disorder [RCV004545657]	likely benign	10	129842153	129842153	Human	1	name , trait
405710815	CV3225818	single nucleotide variant	NM_001375380.1(EBF3):c.1873C>T (p.Leu625=)	Hypotonia, ataxia, and delayed development syndrome [RCV003990876]	uncertain significance	10	129837960	129837960	Human	1	name
407425469	CV3409523	single nucleotide variant	NM_001375380.1(EBF3):c.1692G>A (p.Ala564=)	not provided [RCV004585455]	likely benign	10	129840312	129840312	Human		name
407453882	CV3416410	single nucleotide variant	NM_001375380.1(EBF3):c.1545T>C (p.Ala515=)	not provided [RCV004597668]	likely benign	10	129840860	129840860	Human		name
407454041	CV3416447	single nucleotide variant	NM_001375380.1(EBF3):c.1224C>T (p.Ile408=)	not provided [RCV004597705]	likely benign	10	129842264	129842264	Human		name
407478195	CV3441422	single nucleotide variant	NM_001375380.1(EBF3):c.1233G>A (p.Ala411=)	Inborn genetic diseases [RCV004617470]	likely benign	10	129842255	129842255	Human	1	name
407478201	CV3441423	single nucleotide variant	NM_001375380.1(EBF3):c.176C>T (p.Pro59Leu)	Inborn genetic diseases [RCV004617471]	uncertain significance	10	129963482	129963482	Human	1	name
407502897	CV3495727	single nucleotide variant	NM_001375380.1(EBF3):c.197A>C (p.Asn66Thr)	not provided [RCV004697567]	uncertain significance	10	129963461	129963461	Human		name
408368025	CV3509893	single nucleotide variant	NM_001375380.1(EBF3):c.1665C>T (p.Ser555=)	EBF3-related disorder [RCV004733768]	likely benign	10	129840339	129840339	Human	1	name , trait
596929046	CV3540744	single nucleotide variant	NM_001375380.1(EBF3):c.268G>A (p.Val90Met)	not provided [RCV004795072]	uncertain significance	10	129963390	129963390	Human		name
596942441	CV3542606	single nucleotide variant	NM_001375380.1(EBF3):c.151C>T (p.Arg51Trp)	not provided [RCV004798190]	uncertain significance	10	129963507	129963507	Human		name
12791853	CV362305	single nucleotide variant	NM_001375380.1(EBF3):c.196A>G (p.Asn66Asp)	Hypotonia, ataxia, and delayed development syndrome [RCV000416941]\|Inborn genetic diseases [RCV001265931]	pathogenic\|likely pathogenic	10	129963462	129963462	Human	2	name
597666220	CV3667172	single nucleotide variant	NM_001375380.1(EBF3):c.262G>A (p.Ala88Thr)	Inborn genetic diseases [RCV004979464]	uncertain significance	10	129963396	129963396	Human	1	name
597664888	CV3732569	single nucleotide variant	NM_001375380.1(EBF3):c.221T>A (p.Leu74His)	not provided [RCV005004038]	uncertain significance	10	129963437	129963437	Human		name
598224815	CV3891946	single nucleotide variant	NM_001375380.1(EBF3):c.190A>C (p.Lys64Gln)	Hypotonia, ataxia, and delayed development syndrome [RCV005253285]	uncertain significance	10	129963468	129963468	Human	1	name
616939309	CV4015640	single nucleotide variant	NM_001375380.1(EBF3):c.296C>T (p.Pro99Leu)	not provided [RCV005413152]	uncertain significance	10	129963001	129963001	Human		name
617150598	CV4018923	single nucleotide variant	NM_001375380.1(EBF3):c.101C>A (p.Ala34Glu)	not provided [RCV005423331]	uncertain significance	10	129963668	129963668	Human		name
13207934	CV424474	single nucleotide variant	NM_001375380.1(EBF3):c.191A>C (p.Lys64Thr)	not provided [RCV000495978]	likely pathogenic	10	129963467	129963467	Human		name
13462929	CV438711	single nucleotide variant	NM_001375380.1(EBF3):c.1038C>G (p.Thr346=)	not provided [RCV000515096]	likely benign	10	129867142	129867142	Human		name
14746758	CV672078	deletion	NM_001375380.1(EBF3):c.833del (p.Gly278fs)	Hypotonia, ataxia, and delayed development syndrome [RCV000844952]	not provided	10	129867861	129867861	Human		name
15015187	CV679767	single nucleotide variant	NM_001375380.1(EBF3):c.163G>T (p.Glu55Ter)	Hypotonia, ataxia, and delayed development syndrome [RCV000853316]	pathogenic	10	129963495	129963495	Human	1	name
15169969	CV712250	single nucleotide variant	NM_001375380.1(EBF3):c.1695C>T (p.Pro565=)	not provided [RCV000971920]	benign\|likely benign	10	129840309	129840309	Human		name
15160451	CV737404	single nucleotide variant	NM_001375380.1(EBF3):c.1737C>T (p.Ser579=)	EBF3-related disorder [RCV004541900]\|not provided [RCV000903148]	benign	10	129840267	129840267	Human	1	name , trait
15117866	CV752028	single nucleotide variant	NM_001375380.1(EBF3):c.1317C>T (p.Ser439=)	not provided [RCV000917873]	likely benign	10	129842171	129842171	Human		name
15192062	CV767662	single nucleotide variant	NM_001375380.1(EBF3):c.1743C>T (p.Asn581=)	not provided [RCV000932977]	likely benign	10	129840261	129840261	Human		name
15172233	CV767663	single nucleotide variant	NM_001375380.1(EBF3):c.1272C>T (p.Thr424=)	not provided [RCV000928069]	likely benign	10	129842216	129842216	Human		name
21073693	CV796376	single nucleotide variant	NM_001375380.1(EBF3):c.173C>G (p.Pro58Arg)	not provided [RCV000994525]	conflicting interpretations of pathogenicity\|uncertain significance	10	129963485	129963485	Human		name
25318464	CV805634	duplication	NM_001375380.1(EBF3):c.833dup (p.Ala279fs)	Hypotonia, ataxia, and delayed development syndrome [RCV002051909]\|not provided [RCV001008633]	pathogenic	10	129867860	129867861	Human	1	name
38596712	CV963694	single nucleotide variant	NM_001375380.1(EBF3):c.1038C>T (p.Thr346=)	EBF3-related disorder [RCV004545154]\|Intellectual disability [RCV001252228]	likely benign	10	129867142	129867142	Human	3	name , trait
127259961	CV1061874	deletion	NM_001375380.1(EBF3):c.1696del (p.Val566fs)	not provided [RCV001380241]	pathogenic	10	129840308	129840308	Human		name
150458255	CV1226194	single nucleotide variant	NM_001375380.1(EBF3):c.589A>G (p.Asn197Asp)	Hypotonia, ataxia, and delayed development syndrome [RCV001638191]	likely pathogenic	10	129877815	129877815	Human	1	name
150452790	CV1275332	single nucleotide variant	NM_001375380.1(EBF3):c.491G>C (p.Cys164Ser)	Hypotonia, ataxia, and delayed development syndrome [RCV001706846]	likely pathogenic	10	129957321	129957321	Human	1	name
150438365	CV1286836	single nucleotide variant	NM_001375380.1(EBF3):c.326A>C (p.His109Pro)	Hypotonia, ataxia, and delayed development syndrome [RCV001724782]	likely pathogenic	10	129962971	129962971	Human	1	name
150554296	CV1295714	single nucleotide variant	NM_001375380.1(EBF3):c.454C>G (p.Arg152Gly)	not provided [RCV001770944]	pathogenic\|uncertain significance	10	129958965	129958965	Human		name
150546215	CV1296166	single nucleotide variant	NM_001375380.1(EBF3):c.298A>G (p.Asn100Asp)	Inborn genetic diseases [RCV003163853]\|not provided [RCV001763456]	uncertain significance	10	129962999	129962999	Human	1	name
150546614	CV1301088	single nucleotide variant	NM_001375380.1(EBF3):c.402G>A (p.Met134Ile)	not provided [RCV001763571]	uncertain significance	10	129962180	129962180	Human		name
150531494	CV1301923	single nucleotide variant	NM_001375380.1(EBF3):c.871G>A (p.Gly291Arg)	EBF3-related disorder [RCV004728796]\|not provided [RCV001757140]	uncertain significance	10	129867823	129867823	Human	1	name , trait
150534746	CV1311557	single nucleotide variant	NM_001375380.1(EBF3):c.373G>A (p.Asp125Asn)	Hypotonia, ataxia, and delayed development syndrome [RCV001779403]\|not specified [RCV003331201]	uncertain significance	10	129962209	129962209	Human	1	name
151350574	CV1325722	single nucleotide variant	NM_001375380.1(EBF3):c.633C>G (p.Phe211Leu)	not specified [RCV001815067]	uncertain significance	10	129877771	129877771	Human		name
151717230	CV1334893	single nucleotide variant	NM_001375380.1(EBF3):c.505A>G (p.Ser169Gly)	Hypotonia, ataxia, and delayed development syndrome [RCV001843847]	likely pathogenic	10	129957307	129957307	Human	1	name
152078825	CV1666657	single nucleotide variant	NM_001375380.1(EBF3):c.661G>A (p.Val221Met)	Hypotonia, ataxia, and delayed development syndrome [RCV004796711]\|not provided [RCV002211002]	pathogenic\|uncertain significance	10	129873572	129873572	Human	1	name
152057800	CV1670638	single nucleotide variant	NM_001375380.1(EBF3):c.635A>T (p.Gln212Leu)	not provided [RCV002226158]	uncertain significance	10	129877769	129877769	Human		name
153001379	CV1679976	single nucleotide variant	NM_001375380.1(EBF3):c.587A>G (p.Gln196Arg)	not provided [RCV002251655]	pathogenic	10	129877817	129877817	Human		name
153000311	CV1683661	single nucleotide variant	NM_001375380.1(EBF3):c.673G>A (p.Val225Met)	not provided [RCV002254116]	uncertain significance	10	129873560	129873560	Human		name
153349316	CV1694210	single nucleotide variant	NM_001375380.1(EBF3):c.487C>G (p.Arg163Gly)	Hypotonia, ataxia, and delayed development syndrome [RCV002275710]	likely pathogenic	10	129957325	129957325	Human	1	name
153349317	CV1694211	single nucleotide variant	NM_001375380.1(EBF3):c.631T>C (p.Phe211Leu)	Hypotonia, ataxia, and delayed development syndrome [RCV002275711]	likely pathogenic	10	129877773	129877773	Human	1	name
153349318	CV1694212	single nucleotide variant	NM_001375380.1(EBF3):c.454C>T (p.Arg152Cys)	Hypotonia, ataxia, and delayed development syndrome [RCV002275712]	likely pathogenic\|uncertain significance	10	129958965	129958965	Human	1	name
155266982	CV1704910	single nucleotide variant	NM_001375380.1(EBF3):c.701T>C (p.Val234Ala)	Hypotonia, ataxia, and delayed development syndrome [RCV002285209]	likely pathogenic	10	129873532	129873532	Human	1	name
155643698	CV1708053	single nucleotide variant	NM_001375380.1(EBF3):c.554G>C (p.Arg185Thr)	Hypotonia, ataxia, and delayed development syndrome [RCV002289514]	uncertain significance	10	129957258	129957258	Human	1	name
155644521	CV1708689	single nucleotide variant	NM_001375380.1(EBF3):c.947C>T (p.Pro316Leu)	Hypotonia, ataxia, and delayed development syndrome [RCV002291236]	uncertain significance	10	129867233	129867233	Human	1	name
155733075	CV1781066	single nucleotide variant	NM_001375380.1(EBF3):c.878A>T (p.Gln293Leu)	not provided [RCV002308854]	uncertain significance	10	129867816	129867816	Human		name
155796350	CV1859056	single nucleotide variant	NM_001375380.1(EBF3):c.320G>T (p.Gly107Val)	not provided [RCV002464684]	uncertain significance	10	129962977	129962977	Human		name
155800637	CV1863759	single nucleotide variant	NM_001375380.1(EBF3):c.730G>A (p.Ala244Thr)	not provided [RCV002474182]	uncertain significance	10	129873503	129873503	Human		name
156025685	CV2242268	single nucleotide variant	NM_001375380.1(EBF3):c.647C>T (p.Ser216Leu)	Inborn genetic diseases [RCV002757684]	uncertain significance	10	129873586	129873586	Human	1	name
11051308	CV225815	single nucleotide variant	NM_001375380.1(EBF3):c.530C>T (p.Pro177Leu)	Hypotonia, ataxia, and delayed development syndrome [RCV000416981]\|not provided [RCV002269264]	pathogenic\|uncertain significance	10	129957282	129957282	Human	1	name
156138211	CV2280649	single nucleotide variant	NM_001375380.1(EBF3):c.955C>T (p.His319Tyr)	Inborn genetic diseases [RCV002850132]	uncertain significance	10	129867225	129867225	Human	1	name
243052780	CV2404453	single nucleotide variant	NM_001375380.1(EBF3):c.464T>C (p.Leu155Pro)	not provided [RCV003129479]	uncertain significance	10	129958955	129958955	Human		name
243058482	CV2412447	single nucleotide variant	NM_001375380.1(EBF3):c.612C>A (p.Asn204Lys)	Hypotonia, ataxia, and delayed development syndrome [RCV003146989]	uncertain significance	10	129877792	129877792	Human	1	name
243058491	CV2412452	single nucleotide variant	NM_001375380.1(EBF3):c.301A>G (p.Asn101Asp)	Hypotonia, ataxia, and delayed development syndrome [RCV003146994]	uncertain significance	10	129962996	129962996	Human	1	name
243058668	CV2412453	single nucleotide variant	NM_001375380.1(EBF3):c.737G>A (p.Arg246His)	Hypotonia, ataxia, and delayed development syndrome [RCV003146995]	uncertain significance	10	129873496	129873496	Human	1	name
329351291	CV2476450	single nucleotide variant	NM_001375380.1(EBF3):c.580T>C (p.Cys194Arg)	not provided [RCV003222682]	uncertain significance	10	129877824	129877824	Human		name
329350870	CV2477700	single nucleotide variant	NM_001375380.1(EBF3):c.925C>T (p.His309Tyr)	not provided [RCV003223812]	uncertain significance	10	129867255	129867255	Human		name
11567872	CV262525	single nucleotide variant	NM_001375380.1(EBF3):c.577A>G (p.Lys193Glu)	Oromandibular-limb hypogenesis spectrum [RCV000258066]	likely pathogenic	10	129877827	129877827	Human	1	name
12791878	CV263782	single nucleotide variant	NM_001375380.1(EBF3):c.488G>T (p.Arg163Leu)	Global developmental delay [RCV000417075]\|Hypotonia, ataxia, and delayed development syndrome [RCV000416975]\|not provided [RCV000493860]	pathogenic	10	129957324	129957324	Human	8	name
12791856	CV263783	single nucleotide variant	NM_001375380.1(EBF3):c.488G>A (p.Arg163Gln)	Global developmental delay [RCV000417073]\|Hypotonia, ataxia, and delayed development syndrome [RCV000416944]\|Inborn genetic diseases [RCV000622833]\|Isolated Pierre-Robin syndrome [RCV000663416]\|not provided [RCV001804994]	pathogenic\|likely pathogenic	10	129957324	129957324	Human	15	name
329954081	CV2669407	single nucleotide variant	NM_001375380.1(EBF3):c.982C>T (p.Leu328Phe)	not provided [RCV003231915]	uncertain significance	10	129867198	129867198	Human		name
401730158	CV2700468	single nucleotide variant	NM_001375380.1(EBF3):c.983T>A (p.Leu328His)	Inborn genetic diseases [RCV003271238]	likely pathogenic	10	129867197	129867197	Human	1	name
401733795	CV2736898	single nucleotide variant	NM_001375380.1(EBF3):c.785C>G (p.Thr262Ser)	not provided [RCV003313661]	uncertain significance	10	129867909	129867909	Human		name
401797541	CV2740980	single nucleotide variant	NM_001375380.1(EBF3):c.961C>T (p.Pro321Ser)	not provided [RCV003322144]	uncertain significance	10	129867219	129867219	Human		name
401797425	CV2742230	single nucleotide variant	NM_001375380.1(EBF3):c.437A>G (p.Lys146Arg)	not specified [RCV003324410]	uncertain significance	10	129958982	129958982	Human		name
401869016	CV2767441	single nucleotide variant	NM_001375380.1(EBF3):c.950C>T (p.Pro317Leu)	Hypotonia, ataxia, and delayed development syndrome [RCV003492871]\|Inborn genetic diseases [RCV003345604]	likely benign\|uncertain significance	10	129867230	129867230	Human	2	name
401907936	CV2801249	single nucleotide variant	NM_001375380.1(EBF3):c.695T>A (p.Met232Lys)	EBF3-related disorder [RCV004531571]	likely pathogenic	10	129873538	129873538	Human	1	name , trait
404998140	CV2850034	single nucleotide variant	NM_001375380.1(EBF3):c.967G>A (p.Val323Ile)	Hypotonia, ataxia, and delayed development syndrome [RCV003492997]	uncertain significance	10	129867213	129867213	Human	1	name
405702943	CV3224494	single nucleotide variant	NM_001375380.1(EBF3):c.370C>A (p.Gln124Lys)	Hypotonia, ataxia, and delayed development syndrome [RCV003989882]	uncertain significance	10	129962212	129962212	Human	1	name
405706180	CV3225215	single nucleotide variant	NM_001375380.1(EBF3):c.455G>C (p.Arg152Pro)	Hypotonia, ataxia, and delayed development syndrome [RCV003990269]	likely pathogenic	10	129958964	129958964	Human	1	name
405753562	CV3238339	single nucleotide variant	NM_001375380.1(EBF3):c.479T>C (p.Met160Thr)	Inborn genetic diseases [RCV004382215]	uncertain significance	10	129958940	129958940	Human	1	name
405874707	CV3401596	duplication	NM_001375380.1(EBF3):c.347dup (p.Tyr116Ter)	Hypotonia, ataxia, and delayed development syndrome [RCV004579664]\|not provided [RCV004810693]	pathogenic	10	129962949	129962950	Human	1	name
596931307	CV3531642	single nucleotide variant	NM_001375380.1(EBF3):c.623T>A (p.Met208Lys)	not provided [RCV004781204]	uncertain significance	10	129877781	129877781	Human		name
596926864	CV3536367	single nucleotide variant	NM_001375380.1(EBF3):c.555A>C (p.Arg185Ser)	Hypotonia, ataxia, and delayed development syndrome [RCV004789774]	likely pathogenic	10	129877849	129877849	Human	1	name
12739112	CV361701	single nucleotide variant	NM_001375380.1(EBF3):c.487C>T (p.Arg163Trp)	Hypotonia, ataxia, and delayed development syndrome [RCV000415489]\|not provided [RCV005090688]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	10	129957325	129957325	Human	1	name
12791775	CV362152	single nucleotide variant	NM_001375380.1(EBF3):c.512G>A (p.Gly171Asp)	Hypotonia, ataxia, and delayed development syndrome [RCV001526827]\|Neurogenic bladder [RCV000416467]\|not provided [RCV005411423]	pathogenic\|not provided	10	129957300	129957300	Human	7	name
12791511	CV362304	single nucleotide variant	NM_001375380.1(EBF3):c.625C>T (p.Arg209Trp)	Hypotonia, ataxia, and delayed development syndrome [RCV000417009]\|Inborn genetic diseases [RCV001266965]\|See cases [RCV004797808]\|not provided [RCV001821145]	pathogenic\|likely pathogenic	10	129877779	129877779	Human	2	name
12791866	CV362307	single nucleotide variant	NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys)	Hypotonia, ataxia, and delayed development syndrome [RCV000417002]\|Inborn genetic diseases [RCV001266398]\|not provided [RCV000817610]	pathogenic\|likely pathogenic	10	129958997	129958997	Human	2	name
12791877	CV362310	single nucleotide variant	NM_001375380.1(EBF3):c.488G>C (p.Arg163Pro)	Hypotonia, ataxia, and delayed development syndrome [RCV000417019]	pathogenic	10	129957324	129957324	Human	1	name
12791858	CV362311	single nucleotide variant	NM_001375380.1(EBF3):c.579G>T (p.Lys193Asn)	Hypotonia, ataxia, and delayed development syndrome [RCV000416948]\|not provided [RCV003324747]	pathogenic	10	129877825	129877825	Human	1	name
12791872	CV362313	single nucleotide variant	NM_001375380.1(EBF3):c.616C>T (p.Arg206Ter)	Hypotonia, ataxia, and delayed development syndrome [RCV000417012]\|Neurodevelopmental disorder [RCV000505244]\|not provided [RCV000495975]	pathogenic	10	129877788	129877788	Human	2	name
597666214	CV3667171	single nucleotide variant	NM_001375380.1(EBF3):c.643G>A (p.Val215Ile)	Inborn genetic diseases [RCV004979463]	uncertain significance	10	129873590	129873590	Human	1	name
597666225	CV3667173	single nucleotide variant	NM_001375380.1(EBF3):c.667G>A (p.Gly223Ser)	Inborn genetic diseases [RCV004979465]	likely benign	10	129873566	129873566	Human	1	name
12850058	CV373328	single nucleotide variant	NM_001375380.1(EBF3):c.370C>T (p.Gln124Ter)	not provided [RCV000440856]	pathogenic	10	129962212	129962212	Human		name
597904791	CV3784697	single nucleotide variant	NM_001375380.1(EBF3):c.703C>T (p.His235Tyr)	not provided [RCV005127748]	uncertain significance	10	129873530	129873530	Human		name
598126640	CV3882095	single nucleotide variant	NM_001375380.1(EBF3):c.653C>T (p.Thr218Ile)	not provided [RCV005233646]	uncertain significance	10	129873580	129873580	Human		name
598126377	CV3886236	deletion	NM_001375380.1(EBF3):c.1674del (p.Lys558fs)	not provided [RCV005242039]	uncertain significance	10	129840330	129840330	Human		name
598201404	CV3892783	single nucleotide variant	NM_001375380.1(EBF3):c.433G>A (p.Asp145Asn)	not provided [RCV005254616]	uncertain significance	10	129958986	129958986	Human		name
598160279	CV3897247	single nucleotide variant	NM_001375380.1(EBF3):c.358G>A (p.Val120Ile)	not provided [RCV005368221]	uncertain significance	10	129962224	129962224	Human		name
598268723	CV3953918	single nucleotide variant	NM_001375380.1(EBF3):c.584A>G (p.Asn195Ser)	Inborn genetic diseases [RCV005327159]	uncertain significance	10	129877820	129877820	Human	1	name
616938402	CV4012952	single nucleotide variant	NM_001375380.1(EBF3):c.565A>C (p.Lys189Gln)	not provided [RCV005410417]	uncertain significance	10	129877839	129877839	Human		name
616938278	CV4013044	single nucleotide variant	NM_001375380.1(EBF3):c.509G>A (p.Cys170Tyr)	not provided [RCV005410511]	likely pathogenic	10	129957303	129957303	Human		name
616937916	CV4013303	single nucleotide variant	NM_001375380.1(EBF3):c.598A>C (p.Lys200Gln)	not provided [RCV005410770]	uncertain significance	10	129877806	129877806	Human		name
616939186	CV4015516	single nucleotide variant	NM_001375380.1(EBF3):c.955C>A (p.His319Asn)	not provided [RCV005413028]	uncertain significance	10	129867225	129867225	Human		name
616935516	CV4016085	single nucleotide variant	NM_001375380.1(EBF3):c.436A>G (p.Lys146Glu)	not provided [RCV005414951]	pathogenic	10	129958983	129958983	Human		name
617153657	CV4016731	single nucleotide variant	NM_001375380.1(EBF3):c.547A>G (p.Ile183Val)	not provided [RCV005415828]	uncertain significance	10	129957265	129957265	Human		name
12895024	CV407829	single nucleotide variant	NM_001375380.1(EBF3):c.934C>T (p.Arg312Ter)	Hypotonia, ataxia, and delayed development syndrome [RCV001267692]\|Inborn genetic diseases [RCV003302716]\|not provided [RCV000484995]	pathogenic	10	129867246	129867246	Human	2	name
12894765	CV407830	single nucleotide variant	NM_001375380.1(EBF3):c.341T>G (p.Leu114Ter)	not provided [RCV000484051]	pathogenic	10	129962956	129962956	Human		name
13207937	CV424470	single nucleotide variant	NM_001375380.1(EBF3):c.626G>A (p.Arg209Gln)	Hypotonia, ataxia, and delayed development syndrome [RCV001526828]\|Inborn genetic diseases [RCV000622447]\|not provided [RCV000495981]	pathogenic\|likely pathogenic\|not provided	10	129877778	129877778	Human	2	name
13207935	CV424472	single nucleotide variant	NM_001375380.1(EBF3):c.471C>A (p.His157Gln)	not provided [RCV000495979]	likely pathogenic	10	129958948	129958948	Human		name
13489959	CV444568	single nucleotide variant	NM_001375380.1(EBF3):c.716A>G (p.Lys239Arg)	not provided [RCV000524056]	likely pathogenic	10	129873517	129873517	Human		name
13485764	CV444569	single nucleotide variant	NM_001375380.1(EBF3):c.633C>A (p.Phe211Leu)	not provided [RCV000522699]	uncertain significance	10	129877771	129877771	Human		name
13473070	CV444570	single nucleotide variant	NM_001375380.1(EBF3):c.610A>G (p.Asn204Asp)	not provided [RCV000519292]	uncertain significance	10	129877794	129877794	Human		name
13478487	CV444572	single nucleotide variant	NM_001375380.1(EBF3):c.469C>T (p.His157Tyr)	not provided [RCV000520683]	pathogenic	10	129958950	129958950	Human		name
13508843	CV481314	single nucleotide variant	NM_001375380.1(EBF3):c.554G>A (p.Arg185Lys)	Hypotonia, ataxia, and delayed development syndrome [RCV000578419]\|not provided [RCV003237946]	likely pathogenic\|uncertain significance	10	129957258	129957258	Human	1	name
13532194	CV511862	single nucleotide variant	NM_001375380.1(EBF3):c.856G>A (p.Asp286Asn)	Hypotonia, ataxia, and delayed development syndrome [RCV003144400]\|Inborn genetic diseases [RCV000623997]	uncertain significance	10	129867838	129867838	Human	2	name
13674020	CV535703	single nucleotide variant	NM_001375380.1(EBF3):c.593G>A (p.Cys198Tyr)	Hypotonia, ataxia, and delayed development syndrome [RCV000656407]	pathogenic	10	129877811	129877811	Human	1	name
25318984	CV816471	single nucleotide variant	NM_001375380.1(EBF3):c.428G>A (p.Gly143Asp)	Hypotonia, ataxia, and delayed development syndrome [RCV001028017]	likely pathogenic\|uncertain significance	10	129958991	129958991	Human	1	name
38596713	CV963695	single nucleotide variant	NM_001375380.1(EBF3):c.481T>A (p.Cys161Ser)	Hypotonia, ataxia, and delayed development syndrome [RCV001252229]	pathogenic	10	129958938	129958938	Human	1	name
38598774	CV964842	single nucleotide variant	NM_001375380.1(EBF3):c.656T>C (p.Val219Ala)	Hypotonia, ataxia, and delayed development syndrome [RCV001254071]	likely pathogenic	10	129873577	129873577	Human	1	name
40887278	CV973739	single nucleotide variant	NM_001375380.1(EBF3):c.686C>T (p.Ser229Leu)	Inborn genetic diseases [RCV001266779]	likely pathogenic	10	129873547	129873547	Human	1	name
40887061	CV973740	single nucleotide variant	NM_001375380.1(EBF3):c.634C>T (p.Gln212Ter)	Inborn genetic diseases [RCV001266454]	pathogenic	10	129877770	129877770	Human	1	name
40887783	CV973741	single nucleotide variant	NM_001375380.1(EBF3):c.539C>A (p.Pro180His)	Inborn genetic diseases [RCV001267372]	uncertain significance	10	129957273	129957273	Human	1	name
40887007	CV973743	single nucleotide variant	NM_001375380.1(EBF3):c.490T>G (p.Cys164Gly)	Inborn genetic diseases [RCV001266374]	likely pathogenic	10	129957322	129957322	Human	1	name
40887526	CV973744	single nucleotide variant	NM_001375380.1(EBF3):c.386G>C (p.Arg129Pro)	Inborn genetic diseases [RCV001267149]	likely pathogenic	10	129962196	129962196	Human	1	name
126725501	CV1017273	single nucleotide variant	NM_001375380.1(EBF3):c.1151C>T (p.Ala384Val)	Hypotonia, ataxia, and delayed development syndrome [RCV001331434]	likely pathogenic	10	129843180	129843180	Human	1	name
126760710	CV1029473	single nucleotide variant	NM_001375380.1(EBF3):c.1067G>A (p.Gly356Asp)	not provided [RCV001340484]	conflicting interpretations of pathogenicity\|uncertain significance	10	129848453	129848453	Human		name
127286187	CV1161821	single nucleotide variant	NM_001375380.1(EBF3):c.1408C>T (p.Arg470Ter)	Hypotonia, ataxia, and delayed development syndrome [RCV002226552]\|Intellectual disability [RCV001526594]\|not provided [RCV001786493]	pathogenic\|likely pathogenic\|uncertain significance	10	129840997	129840997	Human	3	name
150338438	CV1174148	single nucleotide variant	NM_001375380.1(EBF3):c.1351A>G (p.Thr451Ala)	Hypotonia, ataxia, and delayed development syndrome [RCV001542363]	uncertain significance	10	129842137	129842137	Human	1	name
150554143	CV1296533	single nucleotide variant	NM_001375380.1(EBF3):c.1381A>G (p.Ser461Gly)	not provided [RCV001770770]	uncertain significance	10	129841024	129841024	Human		name
151710340	CV1487264	single nucleotide variant	NM_001375380.1(EBF3):c.1274T>C (p.Leu425Pro)	not provided [RCV001889238]	uncertain significance	10	129842214	129842214	Human		name
152979274	CV1675450	single nucleotide variant	NM_001375380.1(EBF3):c.1342G>A (p.Val448Met)	Hypotonia, ataxia, and delayed development syndrome [RCV002243561]	uncertain significance	10	129842146	129842146	Human	1	name
153000396	CV1683017	single nucleotide variant	NM_001375380.1(EBF3):c.1102C>G (p.Pro368Ala)	See cases [RCV002253027]	uncertain significance	10	129848418	129848418	Human		name
155960908	CV2285459	single nucleotide variant	NM_001375380.1(EBF3):c.1221C>G (p.Asp407Glu)	Inborn genetic diseases [RCV002841308]	uncertain significance	10	129842267	129842267	Human	1	name
156345734	CV2291191	single nucleotide variant	NM_001375380.1(EBF3):c.1282A>G (p.Asn428Asp)	Inborn genetic diseases [RCV002900832]	uncertain significance	10	129842206	129842206	Human	1	name
243051134	CV2415717	single nucleotide variant	NM_001375380.1(EBF3):c.1435C>T (p.Gln479Ter)	Hypotonia, ataxia, and delayed development syndrome [RCV003148324]	pathogenic	10	129840970	129840970	Human	1	name
329402207	CV2454050	single nucleotide variant	NM_001375380.1(EBF3):c.1749T>G (p.Asn583Lys)	Inborn genetic diseases [RCV003199115]	uncertain significance	10	129840255	129840255	Human	1	name
401734161	CV2688420	single nucleotide variant	NM_001375380.1(EBF3):c.1153G>C (p.Asp385His)	Inborn genetic diseases [RCV003290687]	uncertain significance	10	129843178	129843178	Human	1	name
401769834	CV2693060	single nucleotide variant	NM_001375380.1(EBF3):c.1306G>A (p.Gly436Ser)	Inborn genetic diseases [RCV003260766]	uncertain significance	10	129842182	129842182	Human	1	name
401724055	CV2737953	single nucleotide variant	NM_001375380.1(EBF3):c.1346C>G (p.Ser449Ter)	Hypotonia, ataxia, and delayed development syndrome [RCV003315125]	pathogenic	10	129842142	129842142	Human	1	name
401828715	CV2743050	deletion	NM_001375380.1(EBF3):c.46_48del (p.Lys16del)	not provided [RCV003325758]	uncertain significance	10	129963721	129963723	Human		name
401828042	CV2744416	single nucleotide variant	NM_001375380.1(EBF3):c.1013G>T (p.Gly338Val)	not provided [RCV003327813]	uncertain significance	10	129867167	129867167	Human		name
405753585	CV3238335	single nucleotide variant	NM_001375380.1(EBF3):c.1155C>G (p.Asp385Glu)	Inborn genetic diseases [RCV004382211]	uncertain significance	10	129843176	129843176	Human	1	name
405753577	CV3238336	single nucleotide variant	NM_001375380.1(EBF3):c.1295C>T (p.Thr432Met)	Inborn genetic diseases [RCV004382212]	likely benign	10	129842193	129842193	Human	1	name
405753574	CV3238337	single nucleotide variant	NM_001375380.1(EBF3):c.1436A>G (p.Gln479Arg)	Inborn genetic diseases [RCV004382213]	uncertain significance	10	129840969	129840969	Human	1	name
405753568	CV3238338	single nucleotide variant	NM_001375380.1(EBF3):c.1744G>A (p.Gly582Arg)	Inborn genetic diseases [RCV004382214]	uncertain significance	10	129840260	129840260	Human	1	name
405854775	CV3394890	single nucleotide variant	NM_001375380.1(EBF3):c.1508T>G (p.Val503Gly)	not provided [RCV004555031]	uncertain significance	10	129840897	129840897	Human		name
407572773	CV3497265	single nucleotide variant	NM_001375380.1(EBF3):c.1391C>T (p.Thr464Ile)	not provided [RCV004699085]	uncertain significance	10	129841014	129841014	Human		name
408393437	CV3519814	single nucleotide variant	NM_001375380.1(EBF3):c.1888T>C (p.Ter630Gln)	not provided [RCV004764110]	uncertain significance	10	129837945	129837945	Human		name
408382786	CV3526763	single nucleotide variant	NM_001375380.1(EBF3):c.1684G>A (p.Ala562Thr)	not provided [RCV004772076]	uncertain significance	10	129840320	129840320	Human		name
596921186	CV3534828	single nucleotide variant	NM_001375380.1(EBF3):c.1670T>C (p.Val557Ala)	not provided [RCV004784386]	uncertain significance	10	129840334	129840334	Human		name
596922739	CV3537374	single nucleotide variant	NM_001375380.1(EBF3):c.1082A>C (p.Gln361Pro)	not provided [RCV004787344]	uncertain significance	10	129848438	129848438	Human		name
597666229	CV3667174	single nucleotide variant	NM_001375380.1(EBF3):c.1470G>C (p.Met490Ile)	Inborn genetic diseases [RCV004979466]	uncertain significance	10	129840935	129840935	Human	1	name
597666234	CV3667175	single nucleotide variant	NM_001375380.1(EBF3):c.1399G>A (p.Val467Met)	Inborn genetic diseases [RCV004979467]	likely benign	10	129841006	129841006	Human	1	name
597655839	CV3731519	single nucleotide variant	NM_001375380.1(EBF3):c.1165G>A (p.Ala389Thr)	not provided [RCV005001700]	uncertain significance	10	129843166	129843166	Human		name
597657946	CV3731734	single nucleotide variant	NM_001375380.1(EBF3):c.1201A>T (p.Ile401Phe)	not provided [RCV005001915]	uncertain significance	10	129842287	129842287	Human		name
598124566	CV3883593	single nucleotide variant	NM_001375380.1(EBF3):c.1100A>G (p.His367Arg)	not provided [RCV005235947]	uncertain significance	10	129848420	129848420	Human		name
598127329	CV3888132	single nucleotide variant	NM_001375380.1(EBF3):c.1387A>G (p.Asn463Asp)	not provided [RCV005242818]	uncertain significance	10	129841018	129841018	Human		name
598268720	CV3953917	single nucleotide variant	NM_001375380.1(EBF3):c.1171T>C (p.Tyr391His)	Inborn genetic diseases [RCV005327158]	uncertain significance	10	129843160	129843160	Human	1	name
13532717	CV511861	single nucleotide variant	NM_001375380.1(EBF3):c.1291C>T (p.His431Tyr)	Inborn genetic diseases [RCV000624467]	uncertain significance	10	129842197	129842197	Human	1	name
14395879	CV611728	single nucleotide variant	NM_001375380.1(EBF3):c.1357C>T (p.Gln453Ter)	not provided [RCV000760596]	likely pathogenic	10	129842131	129842131	Human		name
14395919	CV611729	single nucleotide variant	NM_001375380.1(EBF3):c.1210C>T (p.Arg404Ter)	EBF3-related disorder [RCV002221583]\|Hypotonia, ataxia, and delayed development syndrome [RCV001594405]\|Inborn genetic diseases [RCV004972938]\|not provided [RCV000760637]	pathogenic\|likely pathogenic	10	129842278	129842278	Human	2	name , trait
40887379	CV973738	single nucleotide variant	NM_001375380.1(EBF3):c.1081C>T (p.Gln361Ter)	Inborn genetic diseases [RCV001266940]	pathogenic	10	129848439	129848439	Human	1	name
12791873	CV362312	deletion	NM_001375380.1(EBF3):c.280_283del (p.Glu94fs)	Global developmental delay [RCV001003596]\|Hypotonia, ataxia, and delayed development syndrome [RCV000416978]	pathogenic\|uncertain significance	10	129963375	129963378	Human	9	name
597697309	CV3725033	insertion	NM_001375380.1(EBF3):c.1373-14_1373-13insGGGT	Hypotonia, ataxia, and delayed development syndrome [RCV005033085]	uncertain significance	10	129841045	129841046	Human	1	name
12907219	CV415216	microsatellite	NM_001375380.1(EBF3):c.288_289del (p.Lys97fs)	not provided [RCV000490179]	pathogenic	10	129963369	129963370	Human		name
150557027	CV1310351	deletion	NM_001375380.1(EBF3):c.548_551del (p.Ile183fs)	Hypotonia, ataxia, and delayed development syndrome [RCV001775279]	likely pathogenic	10	129957261	129957264	Human	1	name
153346469	CV1691746	microsatellite	NM_001375380.1(EBF3):c.705CAA[1] (p.Asn237del)	Hypotonia, ataxia, and delayed development syndrome [RCV002273229]	pathogenic	10	129873523	129873525	Human		name
155987859	CV2259513	deletion	NM_001375380.1(EBF3):c.537_544del (p.Pro180fs)	Inborn genetic diseases [RCV002793416]	pathogenic	10	129957268	129957275	Human	1	name
401798722	CV2742541	microsatellite	NM_001375380.1(EBF3):c.524_528del (p.Glu175fs)	not provided [RCV003324985]	pathogenic	10	129957284	129957288	Human		name
405004479	CV3184556	deletion	NM_001375380.1(EBF3):c.663_685del (p.Asp222fs)	Hypotonia, ataxia, and delayed development syndrome [RCV003883345]	likely pathogenic	10	129873548	129873570	Human	1	name
598125924	CV3883356	deletion	NM_001375380.1(EBF3):c.364_368del (p.Thr122fs)	Hypotonia, ataxia, and delayed development syndrome [RCV005233227]	likely pathogenic	10	129962214	129962218	Human	1	name
152982393	CV1677331	deletion	NM_001375380.1(EBF3):c.574_576del (p.Leu192del)	Hypotonia, ataxia, and delayed development syndrome [RCV002249037]	likely pathogenic	10	129877828	129877830	Human	1	name
405654502	CV3228235	microsatellite	NM_001375380.1(EBF3):c.1321AGC[1] (p.Ser442del)	not specified [RCV003994970]	uncertain significance	10	129842162	129842164	Human		name
13611682	CV514605	insertion	NM_001375380.1(EBF3):c.421_422insC (p.Tyr141fs)	not provided [RCV000627624]	pathogenic	10	129958997	129958998	Human		name
14691265	CV621964	insertion	NM_001375380.1(EBF3):c.859_860insT (p.Asn287fs)	not provided [RCV000782040]	likely pathogenic	10	129867834	129867835	Human		name
40887784	CV973742	deletion	NM_001375380.1(EBF3):c.501_503del (p.Lys168del)	Inborn genetic diseases [RCV001267373]	uncertain significance	10	129957309	129957311	Human	1	name
156435065	CV2403340	deletion	NM_001375380.1(EBF3):c.1593_1605del (p.Ser532fs)	Autism spectrum disorder [RCV003127276]	uncertain significance	10	129840399	129840411	Human	2	name
401855058	CV2752738	microsatellite	NM_001375380.1(EBF3):c.1185_1186del (p.His395fs)	Hypotonia, ataxia, and delayed development syndrome [RCV003337792]	likely pathogenic	10	129843145	129843146	Human		name
401903665	CV2800071	deletion	NM_001375380.1(EBF3):c.1457_1460del (p.Val486fs)	EBF3-related disorder [RCV004536775]	uncertain significance	10	129840945	129840948	Human	1	name , trait
401940602	CV2842097	microsatellite	NM_001375380.1(EBF3):c.1454_1455del (p.Thr485fs)	Hypotonia, ataxia, and delayed development syndrome [RCV003459152]	likely pathogenic	10	129840950	129840951	Human		name
12895231	CV407828	deletion	NM_001375380.1(EBF3):c.1429_1441del (p.Thr477fs)	Hypotonia, ataxia, and delayed development syndrome [RCV004760527]\|Inborn genetic diseases [RCV004619302]\|not provided [RCV000485670]	pathogenic	10	129840964	129840976	Human	2	name
26920121	CV836693	insertion	NM_001375380.1(EBF3):c.1259_1260insT (p.Gln421fs)	not provided [RCV001047026]	pathogenic	10	129842228	129842229	Human		name
616935001	CV4009228	deletion	NM_001375380.1(EBF3):c.246_254del (p.Glu83_Glu85del)	not provided [RCV005402400]	uncertain significance	10	129963404	129963412	Human		name
13520820	CV495667	indel	NM_001375380.1(EBF3):c.151_153delinsTGA (p.Arg51Ter)	not provided [RCV000598949]	pathogenic	10	129963505	129963507	Human		name
13798037	CV551777	indel	NM_001375380.1(EBF3):c.461_462delinsCT (p.Leu154Pro)	Hypotonia, ataxia, and delayed development syndrome [RCV000678910]	likely pathogenic	10	129958957	129958958	Human		name
13608961	CV535317	duplication	NM_001375380.1(EBF3):c.469_477dup (p.His157_Ile159dup)	not provided [RCV000656279]	pathogenic	10	129958941	129958942	Human		name
25317457	CV805635	microsatellite	NM_001375380.1(EBF3):c.560_563del (p.Phe186_Phe187insTer)	not provided [RCV001008037]	pathogenic	10	129877841	129877844	Human		name
408391287	CV3523135	insertion	NM_001375380.1(EBF3):c.1709_1710insCGAGGCCCCA (p.Gln570fs)	not provided [RCV004770507]	uncertain significance	10	129840294	129840295	Human		name
153000043	CV1682822	duplication	NM_001375380.1(EBF3):c.971_978dup (p.Thr327delinsSerLysTer)	See cases [RCV002252832]	likely pathogenic	10	129867201	129867202	Human		name
617152664	CV4017848	deletion	NM_001375380.1(EBF3):c.1838_1839del (p.His612_Phe613insTer)	Hypotonia, ataxia, and delayed development syndrome [RCV005417637]	uncertain significance	10	129839116	129839117	Human	1	name
156171973	CV2247482	deletion	NM_001375380.1(EBF3):c.1172_1177del (p.Tyr391_Met393delinsLeu)	Inborn genetic diseases [RCV002788110]	uncertain significance	10	129843154	129843159	Human	1	name
616938067	CV4013881	indel	NM_001375380.1(EBF3):c.624_633delinsA (p.Met208_Phe211delinsIle)	Hypotonia, ataxia, and delayed development syndrome [RCV005413373]	uncertain significance	10	129877771	129877780	Human		name

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