Ebp Variant Search Result - Rat Genome Database

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225 records found for search term Ebp

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
10404663	CV205597	variation	EBP, TRP47CYS	MEND SYNDROME [RCV000190980]\|MEND syndrome [RCV000190980]	pathogenic				Human		name , alternate_id
150421755	CV1182131	single nucleotide variant	NM_006579.3(EBP):c.-42A>T	not provided [RCV001552161]	likely benign	X	48523730	48523730	Human		name
150453315	CV1219817	duplication	NM_006579.3(EBP):c.-43dup	not provided [RCV001612198]	benign	X	48523711	48523712	Human		name
12844210	CV379426	single nucleotide variant	NM_006579.3(EBP):c.-49T>C	not specified [RCV000437590]	likely benign	X	48523723	48523723	Human		name
12842612	CV380064	single nucleotide variant	NM_006579.3(EBP):c.-19G>A	not specified [RCV000434734]	likely benign	X	48523753	48523753	Human		name
13527301	CV508678	deletion	NM_006579.3(EBP):c.-43del	not provided [RCV001704766]	benign	X	48523712	48523712	Human		name
150544106	CV1313111	single nucleotide variant	NM_006579.3(EBP):c.301+1G>A	not provided [RCV001783189]	pathogenic	X	48524073	48524073	Human		name
151354272	CV1329405	single nucleotide variant	NM_006579.3(EBP):c.469+3A>C	not provided [RCV001817768]	likely pathogenic	X	48527288	48527288	Human		name
151858733	CV1486435	single nucleotide variant	NM_006579.3(EBP):c.301+3G>C	Inborn genetic diseases [RCV004616826]\|not provided [RCV001883651]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	X	48524075	48524075	Human	1	name
151829730	CV1491581	single nucleotide variant	NM_006579.3(EBP):c.302-1G>A	not provided [RCV002030680]	likely pathogenic	X	48526988	48526988	Human		name
152138129	CV1570825	single nucleotide variant	NM_006579.3(EBP):c.469+9A>G	not provided [RCV002119989]	benign	X	48527294	48527294	Human		name
153346272	CV1691625	single nucleotide variant	NM_006579.3(EBP):c.338+1G>C	Chondrodysplasia punctata 2 X-linked dominant [RCV002273108]	pathogenic	X	48527026	48527026	Human	1	name
9682445	CV170120	single nucleotide variant	NM_006579.3(EBP):c.301+2T>A	Chondrodysplasia punctata 2 X-linked dominant [RCV000145930]	pathogenic	X	48524074	48524074	Human	1	name
155947939	CV2068940	single nucleotide variant	NM_006579.3(EBP):c.470-3C>T	not provided [RCV002862185]	uncertain significance	X	48528231	48528231	Human		name
11552389	CV257841	single nucleotide variant	NM_006579.3(EBP):c.301+5G>C	not specified [RCV000254310]	likely benign	X	48524077	48524077	Human		name
8562515	CV26525	single nucleotide variant	NM_006579.3(EBP):c.338+1G>T	Chondrodysplasia punctata 2 X-linked dominant [RCV000012241]	pathogenic	X	48527026	48527026	Human	1	name
401856645	CV2752632	single nucleotide variant	NM_006579.3(EBP):c.470-3C>G	Chondrodysplasia punctata 2 X-linked dominant [RCV003340970]	uncertain significance	X	48528231	48528231	Human	1	name
405199600	CV2896993	single nucleotide variant	NM_006579.3(EBP):c.338+8T>G	not provided [RCV003565811]	likely benign	X	48527033	48527033	Human		name
596925740	CV3535921	single nucleotide variant	NM_006579.3(EBP):c.470-2A>C	Chondrodysplasia punctata 2 X-linked dominant [RCV004788351]	likely pathogenic	X	48528232	48528232	Human	1	name
13436927	CV433519	single nucleotide variant	NM_006579.3(EBP):c.-74+3G>C	Connective tissue disorder [RCV002279287]\|not provided [RCV001574036]\|not specified [RCV000507998]	benign\|likely benign\|conflicting interpretations of pathogenicity	X	48521910	48521910	Human	1	name
150417648	CV1182132	single nucleotide variant	NM_006579.3(EBP):c.302-67C>A	not provided [RCV001550228]	likely benign	X	48526922	48526922	Human		name
150515139	CV1228743	single nucleotide variant	NM_006579.3(EBP):c.470-54C>T	not provided [RCV001638732]	benign	X	48528180	48528180	Human		name
152091612	CV1616323	single nucleotide variant	NM_006579.3(EBP):c.302-12T>C	not provided [RCV002114153]	likely benign	X	48526977	48526977	Human		name
156413874	CV1979166	deletion	NM_006579.3(EBP):c.470-16del	not provided [RCV002608970]	benign	X	48528215	48528215	Human		name
156226355	CV2140658	single nucleotide variant	NM_006579.3(EBP):c.302-16C>T	not provided [RCV003007573]	likely benign	X	48526973	48526973	Human		name
405119779	CV2993916	deletion	NM_006579.3(EBP):c.338+10del	not provided [RCV003723758]	likely benign	X	48527033	48527033	Human		name
597964905	CV3830609	single nucleotide variant	NM_006579.3(EBP):c.469+12G>A	not provided [RCV005164749]	likely benign	X	48527297	48527297	Human		name
150418781	CV1182130	single nucleotide variant	NM_006579.3(EBP):c.-73-146G>A	not provided [RCV001550752]	likely benign	X	48523553	48523553	Human		name
150406003	CV1192519	duplication	NM_006579.3(EBP):c.-47_-43dup	not provided [RCV001564545]	likely benign	X	48523711	48523712	Human		name
150414788	CV1192520	single nucleotide variant	NM_006579.3(EBP):c.469+222A>G	not provided [RCV001567695]	likely benign	X	48527507	48527507	Human		name
150456703	CV1202529	deletion	NM_006579.3(EBP):c.-73-129del	not provided [RCV001586182]	likely benign	X	48523554	48523554	Human		name
150438518	CV1264834	duplication	NM_006579.3(EBP):c.-44_-43dup	not provided [RCV001678827]	benign	X	48523711	48523712	Human		name
150486435	CV1283596	duplication	NM_006579.3(EBP):c.-73-129dup	not provided [RCV001715784]	benign	X	48523553	48523554	Human		name
14740624	CV670942	single nucleotide variant	NM_006579.3(EBP):c.301+154C>T	not provided [RCV000840424]	benign	X	48524226	48524226	Human		name
401909376	CV2803813	microsatellite	NM_006579.3(EBP):c.301+2_301+3del	EBP-related disorder [RCV003397765]	likely pathogenic	X	48524072	48524073	Human		name , trait , alternate_id
151797231	CV1446612	single nucleotide variant	NM_006579.3(EBP):c.15G>A (p.Ala5=)	not provided [RCV002027758]	likely benign\|uncertain significance	X	48523786	48523786	Human		name
9682438	CV170112	single nucleotide variant	NM_006579.3(EBP):c.15G>T (p.Ala5=)	Chondrodysplasia punctata 2 X-linked dominant [RCV001657835]\|MEND syndrome [RCV001657836]\|not provided [RCV001513029]\|not specified [RCV000145923]	benign	X	48523786	48523786	Human	2	name , alternate_id
597830969	CV3743723	microsatellite	NM_006579.3(EBP):c.302-11_302-9del	not provided [RCV005062540]	likely benign	X	48526974	48526976	Human		name
405134424	CV3115296	single nucleotide variant	NM_006579.3(EBP):c.66A>G (p.Val22=)	not provided [RCV003816141]	benign	X	48523837	48523837	Human		name
151851405	CV1378137	single nucleotide variant	NM_006579.3(EBP):c.162G>A (p.Ala54=)	not provided [RCV002016636]	likely benign\|uncertain significance	X	48523933	48523933	Human		name
152133785	CV1598549	single nucleotide variant	NM_006579.3(EBP):c.261C>T (p.Tyr87=)	not provided [RCV002177154]	likely benign	X	48524032	48524032	Human		name
152160271	CV1642427	single nucleotide variant	NM_006579.3(EBP):c.289T>C (p.Leu97=)	not provided [RCV002103666]	benign	X	48524060	48524060	Human		name
156034854	CV2059345	single nucleotide variant	NM_006579.3(EBP):c.144G>A (p.Leu48=)	not provided [RCV002796208]	likely benign	X	48523915	48523915	Human		name
10449876	CV215621	single nucleotide variant	NM_006579.3(EBP):c.13G>A (p.Ala5Thr)	Chondrodysplasia punctata 2 X-linked dominant [RCV002503796]\|EBP-related disorder [RCV003937769]\|Inborn genetic diseases [RCV002517351]\|not provided [RCV002057044]\|not specified [RCV000203041]	benign\|likely benign	X	48523784	48523784	Human	3	name , trait , alternate_id
156292908	CV2156523	single nucleotide variant	NM_006579.3(EBP):c.11A>G (p.Asn4Ser)	not provided [RCV003010039]	uncertain significance	X	48523782	48523782	Human		name
156339339	CV2174715	single nucleotide variant	NM_006579.3(EBP):c.135C>T (p.Thr45=)	not provided [RCV003047655]	likely benign	X	48523906	48523906	Human		name
405075231	CV2873236	single nucleotide variant	NM_006579.3(EBP):c.172T>C (p.Leu58=)	not provided [RCV003548774]	benign	X	48523943	48523943	Human		name
407456517	CV3415912	single nucleotide variant	NM_006579.3(EBP):c.162G>C (p.Ala54=)	not provided [RCV004598789]	likely benign	X	48523933	48523933	Human		name
407500672	CV3495532	single nucleotide variant	NM_006579.3(EBP):c.25C>G (p.His9Asp)	not provided [RCV004697372]	uncertain significance	X	48523796	48523796	Human		name
597657409	CV3729808	single nucleotide variant	NM_006579.3(EBP):c.25C>T (p.His9Tyr)	Chondrodysplasia punctata 2 X-linked dominant [RCV005041811]	uncertain significance	X	48523796	48523796	Human	1	name , alternate_id
597657418	CV3729809	single nucleotide variant	NM_006579.3(EBP):c.27C>G (p.His9Gln)	Chondrodysplasia punctata 2 X-linked dominant [RCV005041812]\|not provided [RCV005105351]	likely benign\|uncertain significance	X	48523798	48523798	Human	1	name , alternate_id
13518789	CV486480	single nucleotide variant	NM_006579.3(EBP):c.219G>A (p.Gly73=)	not provided [RCV000585107]	conflicting interpretations of pathogenicity\|uncertain significance	X	48523990	48523990	Human		name
15142359	CV743356	single nucleotide variant	NM_006579.3(EBP):c.129C>T (p.Val43=)	EBP-related disorder [RCV003910722]\|not provided [RCV000899660]	likely benign	X	48523900	48523900	Human	1	name , trait , alternate_id
127251757	CV1086714	single nucleotide variant	NM_006579.3(EBP):c.59A>C (p.Asn20Thr)	Connective tissue disorder [RCV002276725]\|not provided [RCV001400186]	likely benign\|uncertain significance	X	48523830	48523830	Human	1	name
151817447	CV1505607	single nucleotide variant	NM_006579.3(EBP):c.36G>A (p.Trp12Ter)	not provided [RCV002049457]	pathogenic	X	48523807	48523807	Human		name
152162255	CV1584767	single nucleotide variant	NM_006579.3(EBP):c.534G>A (p.Glu178=)	not provided [RCV002123415]	likely benign	X	48528298	48528298	Human		name
153347738	CV1694786	single nucleotide variant	NM_006579.3(EBP):c.483G>A (p.Gly161=)	Connective tissue disorder [RCV002278717]	uncertain significance	X	48528247	48528247	Human	1	name
9682454	CV170129	single nucleotide variant	NM_006579.3(EBP):c.382C>T (p.Leu128=)	Chondrodysplasia punctata 2 X-linked dominant [RCV000145939]\|not provided [RCV000882695]\|not specified [RCV000594172]	benign\|uncertain significance	X	48527198	48527198	Human	1	name
155902835	CV2007117	single nucleotide variant	NM_006579.3(EBP):c.555C>T (p.Phe185=)	not provided [RCV002681210]	benign	X	48528319	48528319	Human		name
155906373	CV2027614	single nucleotide variant	NM_006579.3(EBP):c.38C>G (p.Pro13Arg)	not provided [RCV002726495]	benign\|conflicting interpretations of pathogenicity	X	48523809	48523809	Human		name
10404664	CV205598	single nucleotide variant	NM_006579.3(EBP):c.33C>A (p.Tyr11Ter)	CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL [RCV000190981]	pathogenic	X	48523804	48523804	Human	1	name
10406702	CV209065	duplication	NM_006579.3(EBP):c.225dup (p.His76fs)	Chondrodysplasia punctata 2 X-linked dominant [RCV000193764]	pathogenic	X	48523994	48523995	Human	1	name
8562512	CV26522	single nucleotide variant	NM_006579.3(EBP):c.87G>A (p.Trp29Ter)	Chondrodysplasia punctata 2 X-linked dominant [RCV000012238]	pathogenic	X	48523858	48523858	Human	1	name
8562522	CV26532	single nucleotide variant	NM_006579.3(EBP):c.53T>C (p.Leu18Pro)	MEND syndrome [RCV000012248]	pathogenic	X	48523824	48523824	Human	1	name , alternate_id
401926936	CV2821646	single nucleotide variant	NM_006579.3(EBP):c.516C>T (p.Asp172=)	not provided [RCV003438231]	likely benign	X	48528280	48528280	Human		name
402495987	CV3005797	single nucleotide variant	NM_006579.3(EBP):c.492C>T (p.Leu164=)	not provided [RCV003688016]	uncertain significance	X	48528256	48528256	Human		name
405133905	CV3051836	single nucleotide variant	NM_006579.3(EBP):c.513C>T (p.Arg171=)	not provided [RCV003725071]	benign	X	48528277	48528277	Human		name
405231020	CV3073561	single nucleotide variant	NM_006579.3(EBP):c.77G>A (p.Arg26His)	not provided [RCV003734903]	uncertain significance	X	48523848	48523848	Human		name
405156655	CV3159357	single nucleotide variant	NM_006579.3(EBP):c.348C>T (p.Asn116=)	not provided [RCV003856622]	likely benign	X	48527164	48527164	Human		name
402495378	CV3183088	single nucleotide variant	NM_006579.3(EBP):c.663G>A (p.Lys221=)	not provided [RCV003877396]	likely benign	X	48528427	48528427	Human		name
405268510	CV3187059	single nucleotide variant	NM_006579.3(EBP):c.333C>T (p.Tyr111=)	not provided [RCV003887142]	likely benign	X	48527020	48527020	Human		name
596948269	CV3549351	single nucleotide variant	NM_006579.3(EBP):c.537G>A (p.Leu179=)	not provided [RCV004812171]	likely benign	X	48528301	48528301	Human		name
597657437	CV3729810	single nucleotide variant	NM_006579.3(EBP):c.50G>C (p.Arg17Thr)	Chondrodysplasia punctata 2 X-linked dominant [RCV005041814]	uncertain significance	X	48523821	48523821	Human	1	name , alternate_id
597922196	CV3738475	single nucleotide variant	NM_006579.3(EBP):c.76C>T (p.Arg26Cys)	not provided [RCV005074882]	uncertain significance	X	48523847	48523847	Human		name
597970053	CV3753551	single nucleotide variant	NM_006579.3(EBP):c.59A>G (p.Asn20Ser)	not provided [RCV005084036]	benign	X	48523830	48523830	Human		name
597973651	CV3820632	single nucleotide variant	NM_006579.3(EBP):c.528C>T (p.His176=)	not provided [RCV005168149]	likely benign	X	48528292	48528292	Human		name
597927937	CV3855579	single nucleotide variant	NM_006579.3(EBP):c.633C>T (p.Leu211=)	not provided [RCV005206178]	likely benign	X	48528397	48528397	Human		name
15098742	CV729620	single nucleotide variant	NM_006579.3(EBP):c.666C>T (p.Ala222=)	not provided [RCV000891808]	likely benign	X	48528430	48528430	Human		name
15115095	CV743357	single nucleotide variant	NM_006579.3(EBP):c.396C>A (p.Leu132=)	not provided [RCV000894965]	likely benign	X	48527212	48527212	Human		name
15202937	CV758525	single nucleotide variant	NM_006579.3(EBP):c.564C>T (p.Tyr188=)	not provided [RCV000913625]	likely benign	X	48528328	48528328	Human		name
15145760	CV774077	single nucleotide variant	NM_006579.3(EBP):c.336C>T (p.Ile112=)	not provided [RCV000944637]	likely benign	X	48527023	48527023	Human		name
15106820	CV774078	single nucleotide variant	NM_006579.3(EBP):c.414C>T (p.Ile138=)	Chondrodysplasia punctata 2 X-linked dominant [RCV005049720]\|not provided [RCV000937852]	likely benign\|uncertain significance	X	48527230	48527230	Human	1	name , alternate_id
15115411	CV786847	single nucleotide variant	NM_006579.3(EBP):c.435C>T (p.Pro145=)	not provided [RCV000978398]	likely benign	X	48527251	48527251	Human		name
127290535	CV1159678	single nucleotide variant	NM_006579.3(EBP):c.154C>T (p.Arg52Cys)	Inborn genetic diseases [RCV003355507]\|not provided [RCV001509876]	benign\|likely benign	X	48523925	48523925	Human	1	name
150520794	CV1289909	single nucleotide variant	NM_006579.3(EBP):c.175G>A (p.Gly59Arg)	Chondrodysplasia punctata 2 X-linked dominant [RCV005040338]\|not provided [RCV001730285]	uncertain significance	X	48523946	48523946	Human	1	name , alternate_id
150551999	CV1300806	single nucleotide variant	NM_006579.3(EBP):c.131T>G (p.Val44Gly)	not provided [RCV001754666]	uncertain significance	X	48523902	48523902	Human		name
151351178	CV1321088	single nucleotide variant	NM_006579.3(EBP):c.283G>A (p.Ala95Thr)	Chondrodysplasia punctata 2 X-linked dominant [RCV002506834]\|not provided [RCV001810770]	uncertain significance	X	48524054	48524054	Human	1	name , alternate_id
151661818	CV1330051	single nucleotide variant	NM_006579.3(EBP):c.206T>G (p.Phe69Cys)	Chondrodysplasia punctata 2 X-linked dominant [RCV001823462]	uncertain significance	X	48523977	48523977	Human	1	name
151887424	CV1341351	single nucleotide variant	NM_006579.3(EBP):c.293C>T (p.Ser98Phe)	not provided [RCV001887759]	pathogenic\|likely pathogenic	X	48524064	48524064	Human		name
151784274	CV1344679	single nucleotide variant	NM_006579.3(EBP):c.253C>A (p.Leu85Ile)	not provided [RCV001989415]	uncertain significance	X	48524024	48524024	Human		name
151812256	CV1371537	deletion	NM_006579.3(EBP):c.672del (p.Ala225fs)	not provided [RCV001933321]	uncertain significance	X	48528433	48528433	Human		name
151787342	CV1513781	single nucleotide variant	NM_006579.3(EBP):c.184C>T (p.Arg62Trp)	Chondrodysplasia punctata 2 X-linked dominant [RCV002227567]\|not provided [RCV001916464]	pathogenic\|likely pathogenic	X	48523955	48523955	Human	1	name
9682437	CV170113	single nucleotide variant	NM_006579.3(EBP):c.141G>T (p.Trp47Cys)	Chondrodysplasia punctata 2 X-linked dominant [RCV000145922]\|MEND syndrome [RCV000190980]	pathogenic	X	48523912	48523912	Human	2	name , alternate_id
9682439	CV170114	single nucleotide variant	NM_006579.3(EBP):c.182G>A (p.Trp61Ter)	Chondrodysplasia punctata 2 X-linked dominant [RCV000145924]	pathogenic	X	48523953	48523953	Human	1	name
9682440	CV170115	single nucleotide variant	NM_006579.3(EBP):c.204G>T (p.Trp68Cys)	Chondrodysplasia punctata 2 X-linked dominant [RCV000145925]\|not provided [RCV002512575]	pathogenic\|likely pathogenic	X	48523975	48523975	Human	1	name
9682441	CV170116	single nucleotide variant	NM_006579.3(EBP):c.214T>C (p.Cys72Arg)	Chondrodysplasia punctata 2 X-linked dominant [RCV000145926]	likely pathogenic	X	48523985	48523985	Human	1	name
9682442	CV170117	single nucleotide variant	NM_006579.3(EBP):c.218G>A (p.Gly73Glu)	Chondrodysplasia punctata 2 X-linked dominant [RCV000145927]	likely pathogenic	X	48523989	48523989	Human	1	name
156349279	CV1878257	single nucleotide variant	NM_006579.3(EBP):c.149C>A (p.Ser50Ter)	not provided [RCV003064715]	pathogenic	X	48523920	48523920	Human		name
156349312	CV1878259	single nucleotide variant	NM_006579.3(EBP):c.226C>T (p.His76Tyr)	not provided [RCV003064717]	likely pathogenic	X	48523997	48523997	Human		name
10406257	CV205599	single nucleotide variant	NM_006579.3(EBP):c.224T>A (p.Ile75Asn)	MEND syndrome [RCV000190982]	pathogenic	X	48523995	48523995	Human	1	name , alternate_id
10404665	CV205600	single nucleotide variant	NM_006579.3(EBP):c.139T>C (p.Trp47Arg)	MEND syndrome [RCV000190983]	pathogenic	X	48523910	48523910	Human	1	name , alternate_id
156051373	CV2064554	deletion	NM_006579.3(EBP):c.485del (p.Asp162fs)	not provided [RCV002846447]	pathogenic	X	48528249	48528249	Human		name
10406962	CV209069	duplication	NM_006579.3(EBP):c.484dup (p.Asp162fs)	Chondrodysplasia punctata 2 X-linked dominant [RCV000194874]	pathogenic	X	48528244	48528245	Human	1	name
156187668	CV2148442	single nucleotide variant	NM_006579.3(EBP):c.250G>C (p.Val84Leu)	not provided [RCV003005904]	uncertain significance	X	48524021	48524021	Human		name
243058671	CV2412454	single nucleotide variant	NM_006579.3(EBP):c.292T>C (p.Ser98Pro)	not provided [RCV003146996]	uncertain significance	X	48524063	48524063	Human		name
329395583	CV2473218	single nucleotide variant	NM_006579.3(EBP):c.278A>T (p.Asp93Val)	Chondrodysplasia punctata 2 X-linked dominant [RCV003219200]	likely pathogenic	X	48524049	48524049	Human	1	name
8562513	CV26523	single nucleotide variant	NM_006579.3(EBP):c.187C>T (p.Arg63Ter)	Chondrodysplasia punctata 2 X-linked dominant [RCV000012239]\|not provided [RCV001574479]	pathogenic	X	48523958	48523958	Human	1	name
8562514	CV26524	single nucleotide variant	NM_006579.3(EBP):c.238G>A (p.Glu80Lys)	Chondrodysplasia punctata 2 X-linked dominant [RCV000012240]\|Connective tissue disorder [RCV002276542]\|not provided [RCV002512979]	pathogenic\|likely pathogenic	X	48524009	48524009	Human	2	name
8562516	CV26526	deletion	NM_006579.3(EBP):c.390del (p.Pro131fs)	Chondrodysplasia punctata 2 X-linked dominant [RCV000012242]	pathogenic	X	48527206	48527206	Human	1	name
401926934	CV2821645	single nucleotide variant	NM_006579.3(EBP):c.154C>G (p.Arg52Gly)	not provided [RCV003438230]	uncertain significance	X	48523925	48523925	Human		name
401944937	CV2840747	single nucleotide variant	NM_006579.3(EBP):c.161C>T (p.Ala54Val)	not provided [RCV003457596]	uncertain significance	X	48523932	48523932	Human		name
405133444	CV2901899	single nucleotide variant	NM_006579.3(EBP):c.215G>A (p.Cys72Tyr)	not provided [RCV003560243]	likely pathogenic	X	48523986	48523986	Human		name
405154150	CV2949376	single nucleotide variant	NM_006579.3(EBP):c.116C>T (p.Thr39Ile)	not provided [RCV003674216]	uncertain significance	X	48523887	48523887	Human		name
405055128	CV3151453	single nucleotide variant	NM_006579.3(EBP):c.194C>T (p.Ser65Phe)	not provided [RCV003849862]	uncertain significance	X	48523965	48523965	Human		name
402469201	CV3174697	single nucleotide variant	NM_006579.3(EBP):c.130G>A (p.Val44Met)	EBP-related disorder [RCV003949080]\|not provided [RCV003873807]	benign\|likely benign	X	48523901	48523901	Human	1	name , trait , alternate_id
405251238	CV3181235	single nucleotide variant	NM_006579.3(EBP):c.185G>A (p.Arg62Gln)	Chondrodysplasia punctata 2 X-linked dominant [RCV005051409]\|not provided [RCV003870237]	uncertain significance	X	48523956	48523956	Human	1	name , alternate_id
405752887	CV3238383	single nucleotide variant	NM_006579.3(EBP):c.250G>A (p.Val84Ile)	Chondrodysplasia punctata 2 X-linked dominant [RCV005051425]\|Inborn genetic diseases [RCV004382259]	likely benign\|uncertain significance	X	48524021	48524021	Human	2	name , alternate_id
597666247	CV3667203	single nucleotide variant	NM_006579.3(EBP):c.262G>A (p.Glu88Lys)	Inborn genetic diseases [RCV004979470]	uncertain significance	X	48524033	48524033	Human	1	name
597657445	CV3729811	single nucleotide variant	NM_006579.3(EBP):c.193T>C (p.Ser65Pro)	Chondrodysplasia punctata 2 X-linked dominant [RCV005041815]	uncertain significance	X	48523964	48523964	Human	1	name , alternate_id
597839140	CV3736977	single nucleotide variant	NM_006579.3(EBP):c.121G>A (p.Val41Ile)	not provided [RCV005064457]	uncertain significance	X	48523892	48523892	Human		name
597933876	CV3793482	single nucleotide variant	NM_006579.3(EBP):c.118G>A (p.Gly40Arg)	not provided [RCV005132138]	uncertain significance	X	48523889	48523889	Human		name
597961335	CV3794893	single nucleotide variant	NM_006579.3(EBP):c.242G>T (p.Gly81Val)	not provided [RCV005138798]	uncertain significance	X	48524013	48524013	Human		name
597973358	CV3801092	single nucleotide variant	NM_006579.3(EBP):c.140G>A (p.Trp47Ter)	not provided [RCV005143287]	pathogenic	X	48523911	48523911	Human		name
14397390	CV613262	single nucleotide variant	NM_006579.3(EBP):c.278A>G (p.Asp93Gly)	not provided [RCV000762632]	uncertain significance	X	48524049	48524049	Human		name
15133431	CV774076	single nucleotide variant	NM_006579.3(EBP):c.282A>C (p.Gln94His)	EBP-related disorder [RCV003933219]\|not provided [RCV000942566]	benign\|likely benign	X	48524053	48524053	Human	1	name , trait , alternate_id
21073706	CV792460	single nucleotide variant	NM_006579.3(EBP):c.261C>G (p.Tyr87Ter)	Chondrodysplasia punctata 2 X-linked dominant [RCV000990808]\|not provided [RCV003688892]	pathogenic	X	48524032	48524032	Human	1	name
21406263	CV800319	single nucleotide variant	NM_006579.3(EBP):c.188G>A (p.Arg63Gln)	Chondrodysplasia punctata 2 X-linked dominant [RCV002481801]\|not provided [RCV003438651]\|not specified [RCV001002375]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	48523959	48523959	Human	1	name , alternate_id
40903547	CV977305	single nucleotide variant	NM_006579.3(EBP):c.203G>A (p.Trp68Ter)	Chondrodysplasia punctata 2 X-linked dominant [RCV001270857]	pathogenic	X	48523974	48523974	Human	1	name
126732665	CV999803	single nucleotide variant	NM_006579.3(EBP):c.217G>A (p.Gly73Arg)	not provided [RCV001304124]	uncertain significance	X	48523988	48523988	Human		name
126760602	CV1014981	single nucleotide variant	NM_006579.3(EBP):c.341G>T (p.Gly114Val)	EBP-related disorder [RCV003953658]\|Inborn genetic diseases [RCV002543749]\|not provided [RCV001318387]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	48527157	48527157	Human	2	name , trait , alternate_id
126771658	CV1035551	single nucleotide variant	NM_006579.3(EBP):c.383T>G (p.Leu128Arg)	not provided [RCV001345173]	uncertain significance	X	48527199	48527199	Human		name
127262908	CV1065430	single nucleotide variant	NM_006579.3(EBP):c.387G>A (p.Trp129Ter)	not provided [RCV001380841]	pathogenic	X	48527203	48527203	Human		name
150551404	CV1292692	single nucleotide variant	NM_006579.3(EBP):c.475A>C (p.Ile159Leu)	not provided [RCV001754300]	uncertain significance	X	48528239	48528239	Human		name
150529499	CV1292832	single nucleotide variant	NM_006579.3(EBP):c.361A>G (p.Met121Val)	not provided [RCV001756225]	uncertain significance	X	48527177	48527177	Human		name
150540460	CV1314585	single nucleotide variant	NM_006579.3(EBP):c.577A>G (p.Asn193Asp)	not provided [RCV001781018]	likely pathogenic	X	48528341	48528341	Human		name
151355763	CV1326947	single nucleotide variant	NM_006579.3(EBP):c.588G>T (p.Trp196Cys)	not provided [RCV001822116]	likely pathogenic	X	48528352	48528352	Human		name
151717108	CV1334854	single nucleotide variant	NM_006579.3(EBP):c.337C>A (p.Leu113Met)	Developmental disorder [RCV001843810]	likely benign\|uncertain significance	X	48527024	48527024	Human	1	name
151761722	CV1400782	single nucleotide variant	NM_006579.3(EBP):c.326G>T (p.Ser109Ile)	not provided [RCV002007946]	uncertain significance	X	48527013	48527013	Human		name
151874423	CV1511498	single nucleotide variant	NM_006579.3(EBP):c.383T>C (p.Leu128Pro)	not provided [RCV001960868]	likely pathogenic\|uncertain significance	X	48527199	48527199	Human		name
151728455	CV1517524	single nucleotide variant	NM_006579.3(EBP):c.556T>C (p.Trp186Arg)	MEND syndrome [RCV002052140]\|not provided [RCV002508337]	uncertain significance	X	48528320	48528320	Human	1	name , alternate_id
152155037	CV1668028	single nucleotide variant	NM_006579.3(EBP):c.437T>A (p.Leu146His)	not provided [RCV002221922]	uncertain significance	X	48527253	48527253	Human		name
152981280	CV1676729	single nucleotide variant	NM_006579.3(EBP):c.517G>A (p.Gly173Arg)	Inborn genetic diseases [RCV003093972]\|not specified [RCV002247793]	uncertain significance	X	48528281	48528281	Human	1	name
153000231	CV1682925	single nucleotide variant	NM_006579.3(EBP):c.622G>A (p.Val208Met)	See cases [RCV002252935]\|not provided [RCV005254041]	uncertain significance	X	48528386	48528386	Human		name
153348055	CV1695104	single nucleotide variant	NM_006579.3(EBP):c.529G>A (p.Gly177Arg)	not provided [RCV002279035]	uncertain significance	X	48528293	48528293	Human		name
9682444	CV170119	single nucleotide variant	NM_006579.3(EBP):c.299T>C (p.Leu100Pro)	Chondrodysplasia punctata 2 X-linked dominant [RCV000145929]	likely pathogenic	X	48524070	48524070	Human	1	name
9682446	CV170121	single nucleotide variant	NM_006579.3(EBP):c.303G>T (p.Trp101Cys)	Chondrodysplasia punctata 2 X-linked dominant [RCV000145931]	likely pathogenic	X	48526990	48526990	Human	1	name
9682447	CV170122	single nucleotide variant	NM_006579.3(EBP):c.304A>T (p.Lys102Ter)	Chondrodysplasia punctata 2 X-linked dominant [RCV000145932]	pathogenic	X	48526991	48526991	Human	1	name
9682448	CV170123	single nucleotide variant	NM_006579.3(EBP):c.310T>C (p.Tyr104His)	Chondrodysplasia punctata 2 X-linked dominant [RCV000145933]	pathogenic	X	48526997	48526997	Human	1	name
9682449	CV170124	single nucleotide variant	NM_006579.3(EBP):c.311A>G (p.Tyr104Cys)	Chondrodysplasia punctata 2 X-linked dominant [RCV000145934]	likely pathogenic	X	48526998	48526998	Human	1	name
9682450	CV170125	single nucleotide variant	NM_006579.3(EBP):c.314C>A (p.Ala105Asp)	Chondrodysplasia punctata 2 X-linked dominant [RCV000145935]	likely pathogenic	X	48527001	48527001	Human	1	name
9682451	CV170126	single nucleotide variant	NM_006579.3(EBP):c.320G>A (p.Gly107Glu)	Chondrodysplasia punctata 2 X-linked dominant [RCV000145936]	likely pathogenic	X	48527007	48527007	Human	1	name
9682452	CV170127	single nucleotide variant	NM_006579.3(EBP):c.328C>T (p.Arg110Ter)	Chondrodysplasia punctata 2 X-linked dominant [RCV000145937]\|not provided [RCV001857506]	pathogenic	X	48527015	48527015	Human	1	name
9682453	CV170128	single nucleotide variant	NM_006579.3(EBP):c.331T>C (p.Tyr111His)	Chondrodysplasia punctata 2 X-linked dominant [RCV000145938]	likely pathogenic	X	48527018	48527018	Human	1	name
9682456	CV170131	single nucleotide variant	NM_006579.3(EBP):c.480T>G (p.Tyr160Ter)	Chondrodysplasia punctata 2 X-linked dominant [RCV000145941]	pathogenic	X	48528244	48528244	Human	1	name
9682457	CV170132	single nucleotide variant	NM_006579.3(EBP):c.481G>A (p.Gly161Arg)	Chondrodysplasia punctata 2 X-linked dominant [RCV000145942]	likely pathogenic	X	48528245	48528245	Human	1	name
9682458	CV170133	single nucleotide variant	NM_006579.3(EBP):c.511C>T (p.Arg171Cys)	Chondrodysplasia punctata 2 X-linked dominant [RCV000145943]\|EBP-related disorder [RCV003905265]\|MEND syndrome [RCV005359311]\|not provided [RCV000171436]\|not specified [RCV000439113]	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity	X	48528275	48528275	Human	2	name , trait , alternate_id
9682459	CV170134	single nucleotide variant	NM_006579.3(EBP):c.527A>G (p.His176Arg)	Chondrodysplasia punctata 2 X-linked dominant [RCV000145944]\|not specified [RCV002247537]	likely pathogenic\|uncertain significance	X	48528291	48528291	Human	1	name
9682460	CV170135	single nucleotide variant	NM_006579.3(EBP):c.632T>G (p.Leu211Arg)	Chondrodysplasia punctata 2 X-linked dominant [RCV000145945]	likely pathogenic	X	48528396	48528396	Human	1	name
155713942	CV1760309	single nucleotide variant	NM_006579.3(EBP):c.404G>A (p.Trp135Ter)	not provided [RCV002300815]	pathogenic	X	48527220	48527220	Human		name
156185293	CV2152142	single nucleotide variant	NM_006579.3(EBP):c.604G>A (p.Val202Ile)	not provided [RCV003005835]	uncertain significance	X	48528368	48528368	Human		name
329847845	CV2524632	single nucleotide variant	NM_006579.3(EBP):c.312T>A (p.Tyr104Ter)	Chondrodysplasia punctata 2 X-linked dominant [RCV003227561]	pathogenic	X	48526999	48526999	Human	1	name
11559947	CV260328	single nucleotide variant	NM_006579.3(EBP):c.439C>T (p.Arg147Cys)	MEND syndrome [RCV001824133]\|not provided [RCV000255335]	pathogenic\|likely pathogenic	X	48527255	48527255	Human	1	name , alternate_id
8562518	CV26528	single nucleotide variant	NM_006579.3(EBP):c.386G>A (p.Trp129Ter)	Chondrodysplasia punctata 2 X-linked dominant [RCV000012244]	pathogenic	X	48527202	48527202	Human	1	name
8562519	CV26529	single nucleotide variant	NM_006579.3(EBP):c.523C>T (p.Gln175Ter)	Chondrodysplasia punctata 2 X-linked dominant [RCV000012245]	pathogenic	X	48528287	48528287	Human	1	name
8562520	CV26530	single nucleotide variant	NM_006579.3(EBP):c.587G>A (p.Trp196Ter)	Chondrodysplasia punctata 2 X-linked dominant [RCV000012246]	pathogenic	X	48528351	48528351	Human	1	name
8562521	CV26531	single nucleotide variant	NM_006579.3(EBP):c.440G>A (p.Arg147His)	Chondrodysplasia punctata 2 X-linked dominant [RCV000012247]\|Chondrodysplasia punctata 2 X-linked dominant [RCV004795393]\|not provided [RCV003329229]	pathogenic	X	48527256	48527256	Human	1	name , alternate_id
401871317	CV2749529	single nucleotide variant	NM_006579.3(EBP):c.641C>T (p.Ala214Val)	not provided [RCV003332657]	uncertain significance	X	48528405	48528405	Human		name
401948316	CV2832480	single nucleotide variant	NM_006579.3(EBP):c.424C>T (p.Arg142Cys)	MEND syndrome [RCV003447886]\|not provided [RCV005100106]	likely benign\|uncertain significance	X	48527240	48527240	Human	1	name , alternate_id
405067122	CV2923829	single nucleotide variant	NM_006579.3(EBP):c.588G>A (p.Trp196Ter)	not provided [RCV003580888]	pathogenic	X	48528352	48528352	Human		name
405030515	CV2926203	single nucleotide variant	NM_006579.3(EBP):c.331T>A (p.Tyr111Asn)	not provided [RCV003578325]	likely pathogenic	X	48527018	48527018	Human		name
404990217	CV2998648	single nucleotide variant	NM_006579.3(EBP):c.385T>C (p.Trp129Arg)	not provided [RCV003692123]	uncertain significance	X	48527201	48527201	Human		name
405040995	CV3013704	single nucleotide variant	NM_006579.3(EBP):c.415G>C (p.Ala139Pro)	not provided [RCV003696261]	uncertain significance	X	48527231	48527231	Human		name
405208534	CV3037209	single nucleotide variant	NM_006579.3(EBP):c.680G>A (p.Ser227Asn)	not provided [RCV003708326]	uncertain significance	X	48528444	48528444	Human		name
405112618	CV3118634	single nucleotide variant	NM_006579.3(EBP):c.428A>G (p.Gln143Arg)	not provided [RCV003813862]	uncertain significance	X	48527244	48527244	Human		name
404979187	CV3127769	single nucleotide variant	NM_006579.3(EBP):c.487G>T (p.Val163Leu)	not provided [RCV003825801]	uncertain significance	X	48528251	48528251	Human		name
407502909	CV3495728	single nucleotide variant	NM_006579.3(EBP):c.655G>A (p.Asp219Asn)	not provided [RCV004697568]	uncertain significance	X	48528419	48528419	Human		name
597657453	CV3729812	single nucleotide variant	NM_006579.3(EBP):c.347A>G (p.Asn116Ser)	Chondrodysplasia punctata 2 X-linked dominant [RCV005041816]\|not provided [RCV005063349]	uncertain significance	X	48527163	48527163	Human	1	name , alternate_id
597657459	CV3729814	single nucleotide variant	NM_006579.3(EBP):c.604G>C (p.Val202Leu)	Chondrodysplasia punctata 2 X-linked dominant [RCV005041817]	uncertain significance	X	48528368	48528368	Human	1	name , alternate_id
597657466	CV3729815	single nucleotide variant	NM_006579.3(EBP):c.626A>C (p.Lys209Thr)	Chondrodysplasia punctata 2 X-linked dominant [RCV005041818]	uncertain significance	X	48528390	48528390	Human	1	name , alternate_id
597855527	CV3816475	single nucleotide variant	NM_006579.3(EBP):c.488T>C (p.Val163Ala)	not provided [RCV005146047]	uncertain significance	X	48528252	48528252	Human		name
13832237	CV582729	single nucleotide variant	NM_006579.3(EBP):c.419T>G (p.Phe140Cys)	not provided [RCV000722921]	uncertain significance	X	48527235	48527235	Human		name
13832819	CV584043	single nucleotide variant	NM_006579.3(EBP):c.650C>T (p.Thr217Met)	Chondrodysplasia punctata 2 X-linked dominant [RCV002485852]\|Inborn genetic diseases [RCV004026936]\|not provided [RCV001304883]\|not specified [RCV000727892]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	48528414	48528414	Human	2	name , alternate_id
14394132	CV610255	single nucleotide variant	NM_006579.3(EBP):c.445A>G (p.Ile149Val)	not provided [RCV000757205]	benign\|likely benign	X	48527261	48527261	Human		name
14394131	CV610256	single nucleotide variant	NM_006579.3(EBP):c.512G>A (p.Arg171His)	EBP-related disorder [RCV003918238]\|Inborn genetic diseases [RCV002533803]\|not provided [RCV000757204]	benign\|likely benign	X	48528276	48528276	Human	2	name , trait , alternate_id
21074963	CV798815	single nucleotide variant	NM_006579.3(EBP):c.329G>A (p.Arg110Gln)	Chondrodysplasia punctata 2 X-linked dominant [RCV000995763]\|not provided [RCV001576786]	pathogenic\|likely pathogenic	X	48527016	48527016	Human	1	name
26905437	CV850090	single nucleotide variant	NM_006579.3(EBP):c.538G>A (p.Gly180Ser)	not provided [RCV001058433]	likely benign\|uncertain significance	X	48528302	48528302	Human		name
40903793	CV976493	single nucleotide variant	NM_006579.3(EBP):c.469G>A (p.Gly157Ser)	not provided [RCV001269598]	pathogenic	X	48527285	48527285	Human		name
151841572	CV1428754	deletion	NM_006579.3(EBP):c.107_111del (p.Phe36fs)	not provided [RCV001994816]	pathogenic	X	48523874	48523878	Human		name
151818695	CV1482136	microsatellite	NM_006579.3(EBP):c.285CTT[1] (p.Phe96del)	not provided [RCV002029674]	likely pathogenic	X	48524056	48524058	Human		name
9682443	CV170118	deletion	NM_006579.3(EBP):c.292_296del (p.Ser98fs)	Chondrodysplasia punctata 2 X-linked dominant [RCV000145928]	pathogenic	X	48524062	48524066	Human	1	name
405133430	CV2901898	microsatellite	NM_006579.3(EBP):c.183GCG[1] (p.Arg63del)	not provided [RCV003560242]	uncertain significance	X	48523953	48523955	Human		name
597969278	CV3791298	duplication	NM_006579.3(EBP):c.248_252dup (p.Leu85fs)	not provided [RCV005141330]	pathogenic	X	48524017	48524018	Human		name
12895616	CV411382	deletion	NM_006579.3(EBP):c.128_140del (p.Val43fs)	not provided [RCV000487135]	pathogenic	X	48523898	48523910	Human		name
9682455	CV170130	microsatellite	NM_006579.3(EBP):c.464_465del (p.Ser155fs)	Chondrodysplasia punctata 2 X-linked dominant [RCV000145940]	pathogenic	X	48527277	48527278	Human		name
9682461	CV170136	microsatellite	NM_006579.3(EBP):c.684GAA[1] (p.Lys229del)	Chondrodysplasia punctata 2 X-linked dominant [RCV000145946]\|not provided [RCV002515959]	uncertain significance	X	48528446	48528448	Human		name
10408242	CV209064	duplication	NM_006579.3(EBP):c.201_203dup (p.Cys67dup)	Chondrodysplasia punctata 2 X-linked dominant [RCV000192563]	likely pathogenic	X	48523969	48523970	Human	1	name
407426488	CV3409971	microsatellite	NM_006579.3(EBP):c.467_468del (p.Val156fs)	not provided [RCV004585903]	likely pathogenic	X	48527281	48527282	Human		name
21073707	CV792461	microsatellite	NM_006579.3(EBP):c.506_507del (p.Glu169fs)	Chondrodysplasia punctata 2 X-linked dominant [RCV000990809]	pathogenic	X	48528268	48528269	Human		name
10406897	CV209066	duplication	NM_006579.3(EBP):c.329_332dup (p.Tyr111Ter)	Chondrodysplasia punctata 2 X-linked dominant [RCV000194606]	pathogenic	X	48527015	48527016	Human	1	name
8562517	CV26527	insertion	NM_006579.3(EBP):c.586_587insA (p.Trp196Ter)	Chondrodysplasia punctata 2 X-linked dominant [RCV000012243]	pathogenic	X	48528350	48528351	Human	1	name
10406670	CV209068	indel	NM_006579.3(EBP):c.423_427delinsT (p.Arg142fs)	Chondrodysplasia punctata 2 X-linked dominant [RCV000193635]	pathogenic\|likely pathogenic	X	48527239	48527243	Human		name
10408281	CV209067	indel	NM_006579.3(EBP):c.369_379delinsAG (p.Ile124_Cys127delinsGly)	Chondrodysplasia punctata 2 X-linked dominant [RCV000192822]	likely pathogenic	X	48527185	48527195	Human		name
8582866	CV117422	single nucleotide variant	NM_001278636.1(EBPL):c.381-549A>G	Lung cancer [RCV000097943]	uncertain significance	13	49662476	49662476	Human		name
401742602	CV2715272	single nucleotide variant	NM_032565.5(EBPL):c.79G>A (p.Ala27Thr)	not specified [RCV004324613]	uncertain significance	13	49691346	49691346	Human		name
407478299	CV3441444	single nucleotide variant	NM_032565.5(EBPL):c.68C>A (p.Ala23Glu)	not specified [RCV004617492]	uncertain significance	13	49691357	49691357	Human		name
329392156	CV2470430	single nucleotide variant	NM_032565.5(EBPL):c.107A>G (p.Gln36Arg)	not specified [RCV004273461]	likely benign	13	49691318	49691318	Human		name
401746037	CV2694779	single nucleotide variant	NM_032565.5(EBPL):c.124G>T (p.Gly42Trp)	not specified [RCV004298862]	uncertain significance	13	49691301	49691301	Human		name
401893062	CV2762796	single nucleotide variant	NM_032565.5(EBPL):c.130C>T (p.Leu44Phe)	not specified [RCV004340348]	uncertain significance	13	49691295	49691295	Human		name
405752895	CV3238384	single nucleotide variant	NM_032565.5(EBPL):c.266C>T (p.Ala89Val)	not specified [RCV004382260]	uncertain significance	13	49663171	49663171	Human		name
597803026	CV3667206	single nucleotide variant	NM_032565.5(EBPL):c.262G>A (p.Asp88Asn)	not specified [RCV004907002]	uncertain significance	13	49663175	49663175	Human		name
598268809	CV3953938	single nucleotide variant	NM_032565.5(EBPL):c.208G>A (p.Val70Ile)	not specified [RCV005327179]	likely benign	13	49669810	49669810	Human		name
156328127	CV2217418	single nucleotide variant	NM_032565.5(EBPL):c.319G>A (p.Ala107Thr)	not specified [RCV004087847]	uncertain significance	13	49663118	49663118	Human		name
156155671	CV2328807	single nucleotide variant	NM_032565.5(EBPL):c.529G>T (p.Val177Phe)	not specified [RCV004178030]	uncertain significance	13	49661060	49661060	Human		name
156155539	CV2359737	single nucleotide variant	NM_032565.5(EBPL):c.319G>T (p.Ala107Ser)	not specified [RCV004210554]	uncertain significance	13	49663118	49663118	Human		name
401869559	CV2772443	single nucleotide variant	NM_032565.5(EBPL):c.412G>C (p.Glu138Gln)	not specified [RCV004355229]	uncertain significance	13	49661177	49661177	Human		name
405752902	CV3238385	single nucleotide variant	NM_032565.5(EBPL):c.359T>C (p.Ile120Thr)	not specified [RCV004382261]	uncertain significance	13	49663078	49663078	Human		name
405752912	CV3238386	single nucleotide variant	NM_032565.5(EBPL):c.467A>G (p.Asn156Ser)	not specified [RCV004382262]	uncertain significance	13	49661122	49661122	Human		name
405752917	CV3238387	single nucleotide variant	NM_032565.5(EBPL):c.526T>A (p.Trp176Arg)	not specified [RCV004382263]	uncertain significance	13	49661063	49661063	Human		name
407478294	CV3441443	single nucleotide variant	NM_032565.5(EBPL):c.379C>T (p.Arg127Trp)	not specified [RCV004617491]	uncertain significance	13	49663058	49663058	Human		name
407478304	CV3441445	single nucleotide variant	NM_032565.5(EBPL):c.406G>A (p.Val136Met)	not specified [RCV004617493]	uncertain significance	13	49661183	49661183	Human		name
407478309	CV3441446	single nucleotide variant	NM_032565.5(EBPL):c.412G>A (p.Glu138Lys)	not specified [RCV004617494]	uncertain significance	13	49661177	49661177	Human		name
407478316	CV3441447	single nucleotide variant	NM_032565.5(EBPL):c.326A>G (p.Asp109Gly)	not specified [RCV004617495]	uncertain significance	13	49663111	49663111	Human		name
597803024	CV3667205	single nucleotide variant	NM_032565.5(EBPL):c.538C>T (p.Pro180Ser)	not specified [RCV004907001]	uncertain significance	13	49661051	49661051	Human		name
597803027	CV3667207	single nucleotide variant	NM_032565.5(EBPL):c.482A>G (p.Asn161Ser)	not specified [RCV004907003]	likely benign	13	49661107	49661107	Human		name
597735758	CV3667208	single nucleotide variant	NM_032565.5(EBPL):c.548T>G (p.Leu183Arg)	not specified [RCV004920529]	uncertain significance	13	49661041	49661041	Human		name

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