Efnb1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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173 records found for search term Efnb1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150435986	CV1212062	single nucleotide variant	NM_004429.5(EFNB1):c.*6C>T	Craniofrontonasal syndrome [RCV001658312]\|not provided [RCV001599131]\|not specified [RCV001724377]	benign	X	68840660	68840660	Human	1	name
405294693	CV3215631	single nucleotide variant	NM_004429.5(EFNB1):c.-6G>A	EFNB1-related disorder [RCV003934612]	likely benign	X	68829771	68829771	Human		name , trait , alternate_id
150491788	CV1210423	single nucleotide variant	NM_004429.5(EFNB1):c.-279C>G	not provided [RCV001592705]	likely benign	X	68829498	68829498	Human		name
150467474	CV1269236	single nucleotide variant	NM_004429.5(EFNB1):c.-385G>T	not provided [RCV001694644]	benign	X	68829392	68829392	Human		name
155717187	CV1780576	single nucleotide variant	NM_004429.5(EFNB1):c.-695C>T	not provided [RCV002306181]	likely benign	X	68829082	68829082	Human		name
408366338	CV3500209	single nucleotide variant	NM_004429.5(EFNB1):c.-588C>A	not provided [RCV004722252]	likely benign	X	68829189	68829189	Human		name
151354213	CV1329346	single nucleotide variant	NM_004429.5(EFNB1):c.129-1G>T	not provided [RCV001817709]	pathogenic	X	68838616	68838616	Human		name
152999039	CV1679474	single nucleotide variant	NM_004429.5(EFNB1):c.128+1G>C	Craniofrontonasal syndrome [RCV002250863]\|not provided [RCV003679082]	likely pathogenic	X	68829905	68829905	Human	1	name
156233554	CV2173192	single nucleotide variant	NM_004429.5(EFNB1):c.500-3T>C	not provided [RCV003059399]	uncertain significance	X	68839957	68839957	Human		name
329846536	CV2523770	single nucleotide variant	NM_004429.5(EFNB1):c.406+4A>G	Craniofrontonasal syndrome [RCV003226060]	uncertain significance	X	68838898	68838898	Human	1	name
402481680	CV3041525	single nucleotide variant	NM_004429.5(EFNB1):c.128+9C>T	not provided [RCV003712834]	likely benign	X	68829913	68829913	Human		name
407429153	CV3413540	single nucleotide variant	NM_004429.5(EFNB1):c.406+2T>C	Craniofrontonasal syndrome [RCV004594949]	pathogenic	X	68838896	68838896	Human	1	name
597833008	CV3734852	single nucleotide variant	NM_004429.5(EFNB1):c.407-2A>G	not provided [RCV005054585]	likely pathogenic	X	68839662	68839662	Human		name
13215205	CV430892	single nucleotide variant	NM_004429.5(EFNB1):c.128+2T>A	Craniofrontonasal syndrome [RCV000502211]	pathogenic	X	68829906	68829906	Human	1	name
13784106	CV550657	single nucleotide variant	NM_004429.5(EFNB1):c.499+1G>A	Craniofrontonasal syndrome [RCV000677734]\|not provided [RCV005091970]	pathogenic\|likely pathogenic	X	68839757	68839757	Human	1	name
40888310	CV969276	single nucleotide variant	NM_004429.5(EFNB1):c.128+5G>A	Craniofrontonasal syndrome [RCV001263203]\|not provided [RCV003660876]	likely pathogenic\|uncertain significance	X	68829909	68829909	Human	1	name
150496541	CV1206115	single nucleotide variant	NM_004429.5(EFNB1):c.129-299C>T	not provided [RCV001593797]	likely benign	X	68838318	68838318	Human		name
150493120	CV1225603	single nucleotide variant	NM_004429.5(EFNB1):c.128+220C>G	not provided [RCV001619119]	benign	X	68830124	68830124	Human		name
150494031	CV1267270	single nucleotide variant	NM_004429.5(EFNB1):c.128+235C>G	not provided [RCV001688298]	benign	X	68830139	68830139	Human		name
15174069	CV679254	deletion	NM_004429.5(EFNB1):c.499+2_499+7del	Craniofrontonasal syndrome [RCV000984626]	likely pathogenic	X	68839757	68839762	Human	1	name
405273444	CV3197773	single nucleotide variant	NM_004429.5(EFNB1):c.18G>A (p.Gln6=)	EFNB1-related disorder [RCV003901739]	likely benign	X	68829794	68829794	Human		name , trait , alternate_id
156266876	CV2243813	single nucleotide variant	NM_004429.5(EFNB1):c.7C>T (p.Arg3Trp)	Inborn genetic diseases [RCV002792232]	uncertain significance	X	68829783	68829783	Human	1	name
405119636	CV2891629	single nucleotide variant	NM_004429.5(EFNB1):c.72C>T (p.Leu24=)	not provided [RCV003558949]	likely benign	X	68829848	68829848	Human		name
597881348	CV3857458	single nucleotide variant	NM_004429.5(EFNB1):c.1A>G (p.Met1Val)	not provided [RCV005199075]	pathogenic	X	68829777	68829777	Human		name
597881358	CV3857459	single nucleotide variant	NM_004429.5(EFNB1):c.30C>T (p.Gly10=)	not provided [RCV005199076]	pathogenic	X	68829806	68829806	Human		name
11633475	CV265170	duplication	NM_004429.5(EFNB1):c.85dup (p.Ala29fs)	not provided [RCV000340660]	pathogenic	X	68829859	68829860	Human		name
401907982	CV2831303	deletion	NM_004429.5(EFNB1):c.67del (p.Arg23fs)	Craniofrontonasal syndrome [RCV003444084]	likely pathogenic	X	68829842	68829842	Human	1	name
402499877	CV3170463	single nucleotide variant	NM_004429.5(EFNB1):c.192C>T (p.Cys64=)	not provided [RCV003877835]	likely benign	X	68838680	68838680	Human		name
407497864	CV3441772	single nucleotide variant	NM_004429.5(EFNB1):c.10C>T (p.Pro4Ser)	Inborn genetic diseases [RCV004622319]	uncertain significance	X	68829786	68829786	Human	1	name
34888551	CV917775	single nucleotide variant	NM_004429.5(EFNB1):c.24G>A (p.Trp8Ter)	Craniofrontonasal syndrome [RCV001194644]	likely pathogenic	X	68829800	68829800	Human	1	name
156316666	CV1910397	single nucleotide variant	NM_004429.5(EFNB1):c.405C>A (p.Thr135=)	not provided [RCV002599983]	likely benign	X	68838893	68838893	Human		name
156368097	CV1925872	single nucleotide variant	NM_004429.5(EFNB1):c.429G>A (p.Glu143=)	not provided [RCV002633165]	benign	X	68839686	68839686	Human		name
155963816	CV1952236	deletion	NM_004429.5(EFNB1):c.196del (p.Arg66fs)	Craniofrontonasal syndrome [RCV002512506]	pathogenic	X	68838680	68838680	Human	1	name
156117940	CV2017236	single nucleotide variant	NM_004429.5(EFNB1):c.768C>T (p.Ile256=)	not provided [RCV002740087]	likely benign	X	68840381	68840381	Human		name
156177759	CV2061151	single nucleotide variant	NM_004429.5(EFNB1):c.846C>T (p.Leu282=)	not provided [RCV002802160]	likely benign	X	68840459	68840459	Human		name
156104402	CV2107914	single nucleotide variant	NM_004429.5(EFNB1):c.738C>T (p.Ala246=)	not provided [RCV002927167]	likely benign	X	68840351	68840351	Human		name
401923686	CV2803364	single nucleotide variant	NM_004429.5(EFNB1):c.35G>A (p.Trp12Ter)	EFNB1-related disorder [RCV003404510]	likely pathogenic	X	68829811	68829811	Human		name , trait , alternate_id
401927248	CV2829187	single nucleotide variant	NM_004429.5(EFNB1):c.597G>A (p.Arg199=)	not provided [RCV003438467]	likely benign	X	68840057	68840057	Human		name
597907931	CV3738960	single nucleotide variant	NM_004429.5(EFNB1):c.885G>A (p.Ala295=)	not provided [RCV005073195]	likely benign	X	68840498	68840498	Human		name
597899762	CV3740974	single nucleotide variant	NM_004429.5(EFNB1):c.972C>T (p.Tyr324=)	not provided [RCV005072137]	likely benign	X	68840585	68840585	Human		name
15167752	CV706293	single nucleotide variant	NM_004429.5(EFNB1):c.759C>T (p.Leu253=)	not provided [RCV000949118]	benign\|likely benign	X	68840372	68840372	Human		name
15128533	CV717845	single nucleotide variant	NM_004429.5(EFNB1):c.597G>T (p.Arg199=)	not provided [RCV000964100]	likely benign	X	68840057	68840057	Human		name
15160828	CV717846	single nucleotide variant	NM_004429.5(EFNB1):c.891C>T (p.Thr297=)	EFNB1-related disorder [RCV003943192]\|not provided [RCV000969977]	benign\|likely benign	X	68840504	68840504	Human	1	name , trait , alternate_id
15124941	CV758617	single nucleotide variant	NM_004429.5(EFNB1):c.816C>T (p.His272=)	not provided [RCV000919067]	likely benign	X	68840429	68840429	Human		name
15202281	CV758618	single nucleotide variant	NM_004429.5(EFNB1):c.843G>A (p.Ser281=)	not provided [RCV000913383]	likely benign	X	68840456	68840456	Human		name
15103955	CV774174	single nucleotide variant	NM_004429.5(EFNB1):c.732C>T (p.Val244=)	not provided [RCV000937293]	likely benign	X	68840345	68840345	Human		name
150529589	CV1292873	single nucleotide variant	NM_004429.5(EFNB1):c.100C>G (p.Pro34Ala)	not provided [RCV001756266]	uncertain significance	X	68829876	68829876	Human		name
150551168	CV1297215	single nucleotide variant	NM_004429.5(EFNB1):c.266G>C (p.Cys89Ser)	not provided [RCV001766897]	uncertain significance	X	68838754	68838754	Human		name
150544115	CV1313114	single nucleotide variant	NM_004429.5(EFNB1):c.111G>A (p.Trp37Ter)	Craniofrontonasal syndrome [RCV001783192]	pathogenic	X	68829887	68829887	Human	1	name
155706138	CV1778294	single nucleotide variant	NM_004429.5(EFNB1):c.182A>T (p.Asp61Val)	not provided [RCV002295927]	uncertain significance	X	68838670	68838670	Human		name
155798675	CV1860745	single nucleotide variant	NM_004429.5(EFNB1):c.149T>A (p.Leu50Ter)	Craniofrontonasal syndrome [RCV002467388]	pathogenic	X	68838637	68838637	Human	1	name
156003524	CV2057602	single nucleotide variant	NM_004429.5(EFNB1):c.265T>A (p.Cys89Ser)	Inborn genetic diseases [RCV005333350]\|not provided [RCV002819768]	uncertain significance	X	68838753	68838753	Human	1	name
155920683	CV2073692	deletion	NM_004429.5(EFNB1):c.614del (p.Ser205fs)	not provided [RCV002838304]	pathogenic	X	68840074	68840074	Human		name
156024069	CV2079374	single nucleotide variant	NM_004429.5(EFNB1):c.237C>G (p.Tyr79Ter)	not provided [RCV002885093]	pathogenic	X	68838725	68838725	Human		name
156040711	CV2089628	duplication	NM_004429.5(EFNB1):c.403dup (p.Thr135fs)	not provided [RCV002867430]	pathogenic	X	68838890	68838891	Human		name
10406596	CV209148	single nucleotide variant	NM_004429.5(EFNB1):c.175A>C (p.Lys59Gln)	not specified [RCV000193305]	uncertain significance	X	68838663	68838663	Human		name
156166762	CV2184772	duplication	NM_004429.5(EFNB1):c.722dup (p.Ala242fs)	not provided [RCV003057095]	uncertain significance	X	68840333	68840334	Human		name
155934054	CV2229071	single nucleotide variant	NM_004429.5(EFNB1):c.262G>A (p.Ala88Thr)	Inborn genetic diseases [RCV002729180]	likely benign	X	68838750	68838750	Human	1	name
329395195	CV2473052	single nucleotide variant	NM_004429.5(EFNB1):c.145G>C (p.Gly49Arg)	not provided [RCV003219036]	uncertain significance	X	68838633	68838633	Human		name
11633282	CV265119	single nucleotide variant	NM_004429.5(EFNB1):c.219T>G (p.Tyr73Ter)	not provided [RCV000326061]	pathogenic	X	68838707	68838707	Human		name
8598764	CV26747	single nucleotide variant	NM_004429.5(EFNB1):c.161C>T (p.Pro54Leu)	Craniofrontonasal syndrome [RCV000012474]\|not provided [RCV000478350]	pathogenic\|likely pathogenic	X	68838649	68838649	Human	1	name
8598769	CV26752	single nucleotide variant	NM_004429.5(EFNB1):c.109T>G (p.Trp37Gly)	Craniofrontonasal syndrome [RCV000012479]	pathogenic	X	68829885	68829885	Human	1	name
8598770	CV26753	single nucleotide variant	NM_004429.5(EFNB1):c.110G>A (p.Trp37Ter)	Craniofrontonasal syndrome [RCV000012480]	pathogenic	X	68829886	68829886	Human	1	name
8598771	CV26754	single nucleotide variant	NM_004429.5(EFNB1):c.196C>T (p.Arg66Ter)	Craniofrontonasal syndrome [RCV000012481]\|not provided [RCV000224877]	pathogenic	X	68838684	68838684	Human	1	name
401774402	CV2691723	single nucleotide variant	NM_004429.5(EFNB1):c.212G>A (p.Arg71Gln)	Inborn genetic diseases [RCV003285740]	uncertain significance	X	68838700	68838700	Human	1	name
405022265	CV2877503	deletion	NM_004429.5(EFNB1):c.754del (p.Leu252fs)	not provided [RCV003577705]	uncertain significance	X	68840366	68840366	Human		name
405133585	CV2901916	single nucleotide variant	NM_004429.5(EFNB1):c.220G>T (p.Glu74Ter)	not provided [RCV003560255]	pathogenic	X	68838708	68838708	Human		name
405129702	CV3010808	single nucleotide variant	NM_004429.5(EFNB1):c.152T>G (p.Val51Gly)	not provided [RCV003701562]	uncertain significance	X	68838640	68838640	Human		name
405129716	CV3010809	single nucleotide variant	NM_004429.5(EFNB1):c.158A>T (p.Tyr53Phe)	not provided [RCV003701563]	uncertain significance	X	68838646	68838646	Human		name
405166041	CV3018857	deletion	NM_004429.5(EFNB1):c.449del (p.Gly150fs)	not provided [RCV003704319]	pathogenic	X	68839704	68839704	Human		name
405161781	CV3021647	single nucleotide variant	NM_004429.5(EFNB1):c.229A>G (p.Lys77Glu)	not provided [RCV003704015]	uncertain significance	X	68838717	68838717	Human		name
405218776	CV3049202	single nucleotide variant	NM_004429.5(EFNB1):c.1017G>A (p.Pro339=)	not provided [RCV003733002]	likely benign	X	68840630	68840630	Human		name
405269464	CV3187373	deletion	NM_004429.5(EFNB1):c.440del (p.Asn147fs)	not provided [RCV003887457]	pathogenic	X	68839694	68839694	Human		name
405270776	CV3212085	single nucleotide variant	NM_004429.5(EFNB1):c.1005G>T (p.Pro335=)	EFNB1-related disorder [RCV003949459]	likely benign	X	68840618	68840618	Human		name , trait , alternate_id
408384336	CV3505103	single nucleotide variant	NM_004429.5(EFNB1):c.175A>G (p.Lys59Glu)	EFNB1-related disorder [RCV004731726]	uncertain significance	X	68838663	68838663	Human		name , trait , alternate_id
12739121	CV361727	single nucleotide variant	NM_004429.5(EFNB1):c.271A>C (p.Thr91Pro)	Craniofrontonasal syndrome [RCV000415505]	uncertain significance	X	68838759	68838759	Human	1	name
12739125	CV361730	deletion	NM_004429.5(EFNB1):c.561del (p.Asn187fs)	Craniofrontonasal syndrome [RCV000415511]	pathogenic	X	68840021	68840021	Human	1	name
598126492	CV3881941	single nucleotide variant	NM_004429.5(EFNB1):c.192C>A (p.Cys64Ter)	Craniofrontonasal syndrome [RCV005233493]	pathogenic	X	68838680	68838680	Human	1	name
598167513	CV3964886	single nucleotide variant	NM_004429.5(EFNB1):c.190T>C (p.Cys64Arg)	Inborn genetic diseases [RCV005330062]	uncertain significance	X	68838678	68838678	Human	1	name
617152656	CV4017853	deletion	NM_004429.5(EFNB1):c.334del (p.Ile112fs)	Craniofrontonasal syndrome [RCV005417642]	likely pathogenic	X	68838822	68838822	Human	1	name
13216375	CV430893	single nucleotide variant	NM_004429.5(EFNB1):c.131T>C (p.Phe44Ser)	Craniofrontonasal syndrome [RCV000503680]	likely pathogenic	X	68838619	68838619	Human	1	name
13486763	CV446734	single nucleotide variant	NM_004429.5(EFNB1):c.161C>G (p.Pro54Arg)	not provided [RCV000523021]	pathogenic\|likely pathogenic	X	68838649	68838649	Human		name
13530293	CV512729	single nucleotide variant	NM_004429.5(EFNB1):c.142A>T (p.Lys48Ter)	Inborn genetic diseases [RCV000622395]	pathogenic	X	68838630	68838630	Human	1	name
15156949	CV758619	single nucleotide variant	NM_004429.5(EFNB1):c.1005G>A (p.Pro335=)	not provided [RCV000924765]	likely benign	X	68840618	68840618	Human		name
38598555	CV800957	single nucleotide variant	NM_004429.5(EFNB1):c.253C>T (p.Gln85Ter)	Craniofrontonasal syndrome [RCV001250921]\|not provided [RCV003769398]	pathogenic	X	68838741	68838741	Human	1	name
25317585	CV806250	duplication	NM_004429.5(EFNB1):c.324dup (p.Arg109fs)	not provided [RCV001008114]	pathogenic	X	68838811	68838812	Human		name
40888311	CV969287	single nucleotide variant	NM_004429.5(EFNB1):c.182A>G (p.Asp61Gly)	Craniofrontonasal syndrome [RCV001263204]	likely pathogenic	X	68838670	68838670	Human	1	name
126734831	CV1001286	single nucleotide variant	NM_004429.5(EFNB1):c.334A>G (p.Ile112Val)	not provided [RCV001311398]	uncertain significance	X	68838822	68838822	Human		name
8646975	CV106499	single nucleotide variant	NM_004429.5(EFNB1):c.496C>T (p.Gln166Ter)	Craniofrontonasal syndrome [RCV000087027]	pathogenic	X	68839753	68839753	Human	1	name
150406641	CV1195799	single nucleotide variant	NM_004429.5(EFNB1):c.920G>A (p.Arg307Gln)	not provided [RCV001572076]	uncertain significance	X	68840533	68840533	Human		name
150554516	CV1304219	single nucleotide variant	NM_004429.5(EFNB1):c.991G>T (p.Val331Phe)	not provided [RCV001771189]	uncertain significance	X	68840604	68840604	Human		name
151786416	CV1344991	single nucleotide variant	NM_004429.5(EFNB1):c.344A>G (p.Gln115Arg)	Craniofrontonasal syndrome [RCV002471214]\|not provided [RCV001989625]	likely pathogenic\|uncertain significance	X	68838832	68838832	Human	1	name
151824383	CV1404099	single nucleotide variant	NM_004429.5(EFNB1):c.331A>G (p.Thr111Ala)	not provided [RCV001976049]	uncertain significance	X	68838819	68838819	Human		name
151769494	CV1410655	single nucleotide variant	NM_004429.5(EFNB1):c.616G>C (p.Asp206His)	Inborn genetic diseases [RCV004042247]\|not provided [RCV001971037]	uncertain significance	X	68840076	68840076	Human	1	name
151748015	CV1445967	single nucleotide variant	NM_004429.5(EFNB1):c.602C>A (p.Ser201Tyr)	not provided [RCV002042964]	uncertain significance	X	68840062	68840062	Human		name
151724162	CV1459227	single nucleotide variant	NM_004429.5(EFNB1):c.339G>C (p.Lys113Asn)	not provided [RCV002020571]	pathogenic\|uncertain significance	X	68838827	68838827	Human		name
152982396	CV1677334	single nucleotide variant	NM_004429.5(EFNB1):c.473T>G (p.Met158Arg)	Craniofrontonasal syndrome [RCV002249040]	likely pathogenic	X	68839730	68839730	Human	1	name
152999899	CV1683443	single nucleotide variant	NM_004429.5(EFNB1):c.830C>T (p.Ala277Val)	See cases [RCV002252627]	likely benign	X	68840443	68840443	Human		name
155645703	CV1709057	single nucleotide variant	NM_004429.5(EFNB1):c.461G>C (p.Arg154Pro)	not provided [RCV002291933]	uncertain significance	X	68839718	68839718	Human		name
156349505	CV1878287	single nucleotide variant	NM_004429.5(EFNB1):c.458G>A (p.Cys153Tyr)	not provided [RCV003064731]	uncertain significance	X	68839715	68839715	Human		name
156207409	CV2074080	single nucleotide variant	NM_004429.5(EFNB1):c.869G>T (p.Gly290Val)	not provided [RCV002829171]	uncertain significance	X	68840482	68840482	Human		name
156014942	CV2114309	single nucleotide variant	NM_004429.5(EFNB1):c.352A>G (p.Ser118Gly)	not provided [RCV002909313]	uncertain significance	X	68838840	68838840	Human		name
155947101	CV2150907	single nucleotide variant	NM_004429.5(EFNB1):c.860G>A (p.Ser287Asn)	not provided [RCV003014632]	uncertain significance	X	68840473	68840473	Human		name
156078612	CV2171015	single nucleotide variant	NM_004429.5(EFNB1):c.430G>C (p.Gly144Arg)	not provided [RCV003020273]	uncertain significance	X	68839687	68839687	Human		name
155976136	CV2211351	single nucleotide variant	NM_004429.5(EFNB1):c.995A>G (p.Gln332Arg)	Inborn genetic diseases [RCV002687939]	uncertain significance	X	68840608	68840608	Human	1	name
155927474	CV2230793	single nucleotide variant	NM_004429.5(EFNB1):c.814C>T (p.His272Tyr)	Inborn genetic diseases [RCV002728288]	uncertain significance	X	68840427	68840427	Human	1	name
156064853	CV2287220	single nucleotide variant	NM_004429.5(EFNB1):c.355C>A (p.Pro119Thr)	Inborn genetic diseases [RCV002868367]	uncertain significance	X	68838843	68838843	Human	1	name
156075820	CV2291449	single nucleotide variant	NM_004429.5(EFNB1):c.593G>T (p.Ser198Ile)	Inborn genetic diseases [RCV002887147]	uncertain significance	X	68840053	68840053	Human	1	name
156096990	CV2310228	single nucleotide variant	NM_004429.5(EFNB1):c.584C>A (p.Ala195Asp)	Inborn genetic diseases [RCV002888386]	uncertain significance	X	68840044	68840044	Human	1	name
156260014	CV2322272	single nucleotide variant	NM_004429.5(EFNB1):c.422G>C (p.Ser141Thr)	Inborn genetic diseases [RCV002959691]	uncertain significance	X	68839679	68839679	Human	1	name
243052242	CV2416117	single nucleotide variant	NM_004429.5(EFNB1):c.685G>T (p.Asp229Tyr)	not provided [RCV003149177]	uncertain significance	X	68840298	68840298	Human		name
243052883	CV2418282	single nucleotide variant	NM_004429.5(EFNB1):c.802C>T (p.Arg268Trp)	not provided [RCV003154103]	uncertain significance	X	68840415	68840415	Human		name
329369296	CV2450596	single nucleotide variant	NM_004429.5(EFNB1):c.598G>C (p.Gly200Arg)	Inborn genetic diseases [RCV003208989]	uncertain significance	X	68840058	68840058	Human	1	name
329401440	CV2460818	single nucleotide variant	NM_004429.5(EFNB1):c.727G>A (p.Ala243Thr)	Inborn genetic diseases [RCV003198391]	uncertain significance	X	68840340	68840340	Human	1	name
8598763	CV26746	single nucleotide variant	NM_004429.5(EFNB1):c.332C>T (p.Thr111Ile)	Craniofrontonasal syndrome [RCV000012473]\|not provided [RCV003556004]	pathogenic	X	68838820	68838820	Human	1	name
8598765	CV26748	single nucleotide variant	NM_004429.5(EFNB1):c.451G>A (p.Gly151Ser)	Craniofrontonasal syndrome [RCV000012475]\|not provided [RCV001588810]	pathogenic	X	68839708	68839708	Human	1	name
8598766	CV26749	single nucleotide variant	NM_004429.5(EFNB1):c.452G>T (p.Gly151Val)	Craniofrontonasal syndrome [RCV000012476]	pathogenic	X	68839709	68839709	Human	1	name
8598767	CV26750	single nucleotide variant	NM_004429.5(EFNB1):c.472A>G (p.Met158Val)	Craniofrontonasal syndrome [RCV000012477]\|not provided [RCV004719638]	pathogenic	X	68839729	68839729	Human	1	name
8598768	CV26751	single nucleotide variant	NM_004429.5(EFNB1):c.474G>T (p.Met158Ile)	Craniofrontonasal syndrome [RCV000012478]	pathogenic	X	68839731	68839731	Human	1	name
401719439	CV2679533	single nucleotide variant	NM_004429.5(EFNB1):c.745G>C (p.Val249Leu)	Inborn genetic diseases [RCV003243711]	uncertain significance	X	68840358	68840358	Human	1	name
401767073	CV2721466	single nucleotide variant	NM_004429.5(EFNB1):c.750C>G (p.Ile250Met)	Inborn genetic diseases [RCV003282751]	uncertain significance	X	68840363	68840363	Human	1	name
401726213	CV2738153	single nucleotide variant	NM_004429.5(EFNB1):c.474G>A (p.Met158Ile)	Craniofrontonasal syndrome [RCV003316893]	pathogenic	X	68839731	68839731	Human	1	name
401798653	CV2739421	single nucleotide variant	NM_004429.5(EFNB1):c.728C>T (p.Ala243Val)	not provided [RCV003319069]	uncertain significance	X	68840341	68840341	Human		name
401924210	CV2801075	single nucleotide variant	NM_004429.5(EFNB1):c.490G>A (p.Val164Ile)	EFNB1-related disorder [RCV003404664]	uncertain significance	X	68839747	68839747	Human		name , trait , alternate_id
401927247	CV2829186	single nucleotide variant	NM_004429.5(EFNB1):c.461G>A (p.Arg154His)	not provided [RCV003438466]	likely benign	X	68839718	68839718	Human		name
402478549	CV2980377	single nucleotide variant	NM_004429.5(EFNB1):c.395A>G (p.Tyr132Cys)	not provided [RCV003686344]	uncertain significance	X	68838883	68838883	Human		name
405190185	CV2988018	single nucleotide variant	NM_004429.5(EFNB1):c.835G>A (p.Ala279Thr)	not provided [RCV003706393]	uncertain significance	X	68840448	68840448	Human		name
404995300	CV2996182	single nucleotide variant	NM_004429.5(EFNB1):c.431G>A (p.Gly144Glu)	not provided [RCV003692652]	uncertain significance	X	68839688	68839688	Human		name
405067575	CV3030916	single nucleotide variant	NM_004429.5(EFNB1):c.467G>A (p.Arg156His)	not provided [RCV003698123]	uncertain significance	X	68839724	68839724	Human		name
405133493	CV3051301	single nucleotide variant	NM_004429.5(EFNB1):c.725C>T (p.Ala242Val)	not provided [RCV003724959]	uncertain significance	X	68840338	68840338	Human		name
405163512	CV3059350	single nucleotide variant	NM_004429.5(EFNB1):c.880A>G (p.Thr294Ala)	Inborn genetic diseases [RCV004621883]\|not provided [RCV003727264]	uncertain significance	X	68840493	68840493	Human	1	name
405199480	CV3128827	single nucleotide variant	NM_004429.5(EFNB1):c.991G>A (p.Val331Ile)	not provided [RCV003821870]	uncertain significance	X	68840604	68840604	Human		name
405268515	CV3201054	single nucleotide variant	NM_004429.5(EFNB1):c.326G>A (p.Arg109His)	EFNB1-related disorder [RCV003899164]	uncertain significance	X	68838814	68838814	Human		name , trait , alternate_id
405867806	CV3396628	single nucleotide variant	NM_004429.5(EFNB1):c.430G>A (p.Gly144Arg)	Craniofrontonasal syndrome [RCV004560500]	likely pathogenic	X	68839687	68839687	Human	1	name
407497863	CV3441771	single nucleotide variant	NM_004429.5(EFNB1):c.761T>C (p.Ile254Thr)	Inborn genetic diseases [RCV004622318]	uncertain significance	X	68840374	68840374	Human	1	name
12739107	CV361728	single nucleotide variant	NM_004429.5(EFNB1):c.407C>T (p.Ser136Leu)	Craniofrontonasal syndrome [RCV000415481]	likely pathogenic	X	68839664	68839664	Human	1	name
12739114	CV361729	single nucleotide variant	NM_004429.5(EFNB1):c.466C>T (p.Arg156Cys)	Craniofrontonasal syndrome [RCV000415493]\|not provided [RCV002269269]	likely pathogenic\|uncertain significance	X	68839723	68839723	Human	1	name
12741485	CV361731	single nucleotide variant	NM_004429.5(EFNB1):c.566T>C (p.Val189Ala)	Craniofrontonasal syndrome [RCV000415485]\|not provided [RCV000949117]	benign	X	68840026	68840026	Human	1	name
12850292	CV363641	single nucleotide variant	NM_004429.5(EFNB1):c.509C>T (p.Ala170Val)	not provided [RCV000444789]	benign	X	68839969	68839969	Human		name
597666660	CV3664338	single nucleotide variant	NM_004429.5(EFNB1):c.809G>A (p.Arg270His)	Inborn genetic diseases [RCV004979550]	uncertain significance	X	68840422	68840422	Human	1	name
597666665	CV3664340	single nucleotide variant	NM_004429.5(EFNB1):c.871G>A (p.Gly291Ser)	Inborn genetic diseases [RCV004979551]	uncertain significance	X	68840484	68840484	Human	1	name
597666669	CV3664341	single nucleotide variant	NM_004429.5(EFNB1):c.540G>T (p.Arg180Ser)	Inborn genetic diseases [RCV004979552]\|not provided [RCV005110214]	uncertain significance	X	68840000	68840000	Human	1	name
597666674	CV3664342	single nucleotide variant	NM_004429.5(EFNB1):c.595C>T (p.Arg199Trp)	Inborn genetic diseases [RCV004979553]\|not provided [RCV005061715]	uncertain significance	X	68840055	68840055	Human	1	name
597950776	CV3768719	single nucleotide variant	NM_004429.5(EFNB1):c.410C>T (p.Thr137Ile)	not provided [RCV005120905]	uncertain significance	X	68839667	68839667	Human		name
597875948	CV3775898	single nucleotide variant	NM_004429.5(EFNB1):c.362A>G (p.Tyr121Cys)	not provided [RCV005123425]	uncertain significance	X	68838850	68838850	Human		name
597881801	CV3857460	single nucleotide variant	NM_004429.5(EFNB1):c.355C>G (p.Pro119Ala)	not provided [RCV005199077]	likely pathogenic	X	68838843	68838843	Human		name
598197905	CV3892476	single nucleotide variant	NM_004429.5(EFNB1):c.404C>A (p.Thr135Asn)	not provided [RCV005254309]	likely pathogenic	X	68838892	68838892	Human		name
598158629	CV3896932	single nucleotide variant	NM_004429.5(EFNB1):c.325C>T (p.Arg109Cys)	not provided [RCV005367906]	likely pathogenic	X	68838813	68838813	Human		name
598167502	CV3964883	single nucleotide variant	NM_004429.5(EFNB1):c.596G>A (p.Arg199Gln)	Inborn genetic diseases [RCV005330059]	uncertain significance	X	68840056	68840056	Human	1	name
598167505	CV3964884	single nucleotide variant	NM_004429.5(EFNB1):c.549G>T (p.Lys183Asn)	Inborn genetic diseases [RCV005330060]	uncertain significance	X	68840009	68840009	Human	1	name
598167510	CV3964885	single nucleotide variant	NM_004429.5(EFNB1):c.702C>A (p.Phe234Leu)	Inborn genetic diseases [RCV005330061]	uncertain significance	X	68840315	68840315	Human	1	name
616939551	CV4014046	single nucleotide variant	NM_004429.5(EFNB1):c.733G>A (p.Gly245Ser)	not provided [RCV005413538]	uncertain significance	X	68840346	68840346	Human		name
617152654	CV4017854	single nucleotide variant	NM_004429.5(EFNB1):c.956A>G (p.Lys319Arg)	Craniofrontonasal syndrome [RCV005417643]	uncertain significance	X	68840569	68840569	Human	1	name
13215242	CV430894	single nucleotide variant	NM_004429.5(EFNB1):c.523C>T (p.Gln175Ter)	Craniofrontonasal syndrome [RCV000502264]	likely pathogenic	X	68839983	68839983	Human	1	name
13474184	CV446735	single nucleotide variant	NM_004429.5(EFNB1):c.365T>C (p.Met122Thr)	not provided [RCV000519575]	likely pathogenic\|conflicting interpretations of pathogenicity	X	68838853	68838853	Human		name
13530138	CV512730	single nucleotide variant	NM_004429.5(EFNB1):c.325C>G (p.Arg109Gly)	Inborn genetic diseases [RCV000622267]\|not provided [RCV001546060]	pathogenic\|uncertain significance	X	68838813	68838813	Human	1	name
14396098	CV611953	single nucleotide variant	NM_004429.5(EFNB1):c.640C>T (p.Gln214Ter)	not provided [RCV000760830]	pathogenic	X	68840253	68840253	Human		name
14695896	CV622497	single nucleotide variant	NM_004429.5(EFNB1):c.749T>G (p.Ile250Ser)	Craniofrontonasal syndrome [RCV000785111]	uncertain significance	X	68840362	68840362	Human	1	name
15140167	CV743443	single nucleotide variant	NM_004429.5(EFNB1):c.565G>A (p.Val189Ile)	Inborn genetic diseases [RCV004028489]\|not provided [RCV000899271]	likely benign	X	68840025	68840025	Human	1	name
28895987	CV860918	single nucleotide variant	NM_004429.5(EFNB1):c.409A>G (p.Thr137Ala)	not provided [RCV001092800]	likely pathogenic	X	68839666	68839666	Human		name
150553102	CV1298125	single nucleotide variant	NM_004429.5(EFNB1):c.1024A>G (p.Ile342Val)	not provided [RCV001768738]	uncertain significance	X	68840637	68840637	Human		name
598167499	CV3964882	single nucleotide variant	NM_004429.5(EFNB1):c.1019C>T (p.Ala340Val)	Inborn genetic diseases [RCV005330058]	uncertain significance	X	68840632	68840632	Human	1	name
11350839	CV237226	duplication	NM_004429.5(EFNB1):c.101_114dup (p.Ser39fs)	not provided [RCV000224501]	pathogenic	X	68829868	68829869	Human		name
329846628	CV2523832	deletion	NM_004429.5(EFNB1):c.101_114del (p.Pro34fs)	Craniofrontonasal syndrome [RCV003226122]	pathogenic\|likely pathogenic	X	68829869	68829882	Human	1	name
597889491	CV3788104	deletion	NM_004429.5(EFNB1):c.258_260del (p.Ala88del)	not provided [RCV005125462]	uncertain significance	X	68838744	68838746	Human		name
13213895	CV430895	microsatellite	NM_004429.5(EFNB1):c.562_563del (p.Thr188fs)	Craniofrontonasal syndrome [RCV000500583]	pathogenic	X	68840020	68840021	Human		name
34891353	CV906117	microsatellite	NM_004429.5(EFNB1):c.457_458dup (p.Arg154fs)	Craniofrontonasal syndrome [RCV001174989]	likely pathogenic	X	68839708	68839709	Human		name
40888309	CV969288	microsatellite	NM_004429.5(EFNB1):c.635_636del (p.Val212fs)	Craniofrontonasal syndrome [RCV001263202]	likely pathogenic	X	68840246	68840247	Human		name
405854771	CV3394886	indel	NM_004429.5(EFNB1):c.182_183delinsGA (p.Asp61Gly)	Craniofrontonasal syndrome [RCV004555027]	likely pathogenic	X	68838670	68838671	Human		name
12895695	CV411447	deletion	NM_004429.5(EFNB1):c.258_266del (p.Ala87_Cys89del)	not provided [RCV000487410]	pathogenic	X	68838746	68838754	Human		name
38492669	CV959332	indel	NM_004429.5(EFNB1):c.155_159delinsCAAG (p.Ile52fs)	not provided [RCV001240215]	pathogenic	X	68838643	68838647	Human		name
150488152	CV1208209	microsatellite	NM_004429.5(EFNB1):c.614_615del (p.Asp204_Ser205insTer)	not provided [RCV001592069]	likely pathogenic	X	68840072	68840073	Human		name
405197894	CV2869858	indel	NM_004429.5(EFNB1):c.152_158delinsGGATCTT (p.Val51_Tyr53delinsGlyIlePhe)	not provided [RCV003550995]	likely pathogenic	X	68838640	68838646	Human		name

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