Agbl1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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182 records found for search term Agbl1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
42722899	CV985327	single nucleotide variant	NM_152336.4(AGBL1):c.3323+1G>A	Corneal dystrophy, Fuchs endothelial, 8 [RCV002249234]	pathogenic\|uncertain significance	15	86988089	86988089	Human	1	name
8584610	CV119186	single nucleotide variant	NM_152336.2(AGBL1):c.389-4078G>A	Lung cancer [RCV000099706]	uncertain significance	15	86243593	86243593	Human		name
401916483	CV2814446	single nucleotide variant	NM_001386094.1(AGBL1):c.735+4G>A	not provided [RCV003401006]	likely benign	15	86247883	86247883	Human		name
126738187	CV1021376	single nucleotide variant	NM_001386094.1(AGBL1):c.2817+2T>C	Corneal dystrophy, Fuchs endothelial, 8 [RCV001335468]	pathogenic	15	86546135	86546135	Human		name
8584611	CV119187	single nucleotide variant	NM_152336.2(AGBL1):c.2083-3980C>A	Lung cancer [RCV000099707]	uncertain significance	15	86291275	86291275	Human		name
8584612	CV119188	single nucleotide variant	NM_152336.2(AGBL1):c.2236+8065T>C	Lung cancer [RCV000099708]	uncertain significance	15	86303473	86303473	Human		name
8584621	CV119197	single nucleotide variant	NM_152336.2(AGBL1):c.3185+8332T>C	Lung cancer [RCV000099717]	uncertain significance	15	86996420	86996420	Human		name
405280324	CV3191721	single nucleotide variant	NM_001386094.1(AGBL1):c.489-10C>T	AGBL1-related disorder [RCV003919855]	benign	15	86224904	86224904	Human		name , trait , alternate_id
405277104	CV3214436	single nucleotide variant	NM_001386094.1(AGBL1):c.116-10T>C	AGBL1-related disorder [RCV003917345]	likely benign	15	86143689	86143689	Human		name , trait , alternate_id
8584613	CV119189	single nucleotide variant	NM_152336.2(AGBL1):c.2237-34620C>T	Lung cancer [RCV000099709]	uncertain significance	15	86362746	86362746	Human		name
8584614	CV119190	single nucleotide variant	NM_152336.2(AGBL1):c.2237-16959C>T	Lung cancer [RCV000099710]	uncertain significance	15	86380407	86380407	Human		name
8584615	CV119191	single nucleotide variant	NM_152336.2(AGBL1):c.2919+42984C>T	Lung cancer [RCV000099711]	uncertain significance	15	86599269	86599269	Human		name
8584616	CV119192	single nucleotide variant	NM_152336.2(AGBL1):c.3083+18536C>A	Lung cancer [RCV000099712]	uncertain significance	15	86692972	86692972	Human		name
8584617	CV119193	single nucleotide variant	NM_152336.2(AGBL1):c.3083+78417A>G	Lung cancer [RCV000099713]	uncertain significance	15	86752853	86752853	Human		name
8584618	CV119194	single nucleotide variant	NM_152336.2(AGBL1):c.3083+98175G>T	Lung cancer [RCV000099714]	uncertain significance	15	86772611	86772611	Human		name
8584620	CV119196	single nucleotide variant	NM_152336.2(AGBL1):c.3084-18602T>C	Lung cancer [RCV000099716]	uncertain significance	15	86969385	86969385	Human		name
8584622	CV119198	single nucleotide variant	NM_152336.2(AGBL1):c.3186-18870G>C	Lung cancer [RCV000099718]	uncertain significance	15	87009955	87009955	Human		name
150491113	CV1239227	single nucleotide variant	NM_001386094.1(AGBL1):c.2995-16T>C	not provided [RCV001654795]	benign	15	86674257	86674257	Human		name
8584619	CV119195	single nucleotide variant	NM_152336.2(AGBL1):c.3084-145326G>C	Lung cancer [RCV000099715]	uncertain significance	15	86842661	86842661	Human		name
156015505	CV2269927	single nucleotide variant	NM_001386094.1(AGBL1):c.2994+1696G>A	not specified [RCV004127140]	uncertain significance	15	86556233	86556233	Human		name
405759754	CV3253610	single nucleotide variant	NM_001386094.1(AGBL1):c.2994+1741G>A	not specified [RCV004394044]	uncertain significance	15	86556278	86556278	Human		name
407459867	CV3496905	single nucleotide variant	NM_152336.4(AGBL1):c.3285A>C (p.Thr1095=)	Corneal dystrophy, Fuchs endothelial, 8 [RCV004698720]	benign	15	86988050	86988050	Human	1	name
407459975	CV3496903	single nucleotide variant	NM_001386094.1(AGBL1):c.861C>T (p.Pro287=)	Corneal dystrophy, Fuchs endothelial, 8 [RCV004698718]	benign	15	86256978	86256978	Human	1	name
8635615	CV90837	single nucleotide variant	NM_152336.2(AGBL1):c.1557G>C (p.Arg519Ser)	Malignant melanoma [RCV000070935]	not provided	15	86266401	86266401	Human		name
156395828	CV2325947	single nucleotide variant	NM_001386094.1(AGBL1):c.233T>C (p.Phe78Ser)	not specified [RCV004174118]	uncertain significance	15	86143816	86143816	Human		name
156343145	CV2364070	single nucleotide variant	NM_001386094.1(AGBL1):c.191C>T (p.Ala64Val)	not specified [RCV004221454]	uncertain significance	15	86143774	86143774	Human		name
401934323	CV2814445	single nucleotide variant	NM_001386094.1(AGBL1):c.235C>T (p.Arg79Trp)	not provided [RCV003411212]	likely benign	15	86143818	86143818	Human		name
401934324	CV2814447	single nucleotide variant	NM_001386094.1(AGBL1):c.1620C>G (p.Pro540=)	not provided [RCV003411213]	likely benign	15	86264791	86264791	Human		name
401902797	CV2814448	single nucleotide variant	NM_152336.4(AGBL1):c.3287A>G (p.Asn1096Ser)	AGBL1-related disorder [RCV003966362]\|not provided [RCV003401007]	benign\|likely benign	15	86988052	86988052	Human	1	name , trait , alternate_id
405265162	CV3198486	single nucleotide variant	NM_001386094.1(AGBL1):c.100G>C (p.Asp34His)	AGBL1-related disorder [RCV003897301]	benign	15	86142052	86142052	Human		name , trait , alternate_id
405279330	CV3206922	single nucleotide variant	NM_001386094.1(AGBL1):c.1686T>C (p.Asp562=)	AGBL1-related disorder [RCV003919480]	likely benign	15	86266392	86266392	Human		name , trait , alternate_id
405274718	CV3209045	single nucleotide variant	NM_001386094.1(AGBL1):c.2541T>C (p.Gly847=)	AGBL1-related disorder [RCV003951803]	likely benign	15	86397532	86397532	Human		name , trait , alternate_id
405282554	CV3220598	single nucleotide variant	NM_001386094.1(AGBL1):c.1926G>A (p.Ala642=)	AGBL1-related disorder [RCV003978921]	likely benign	15	86270006	86270006	Human		name , trait , alternate_id
407507336	CV3435095	single nucleotide variant	NM_001386094.1(AGBL1):c.275G>A (p.Gly92Glu)	not specified [RCV004625069]	uncertain significance	15	86154442	86154442	Human		name
407507622	CV3435178	single nucleotide variant	NM_001386094.1(AGBL1):c.199G>C (p.Ala67Pro)	not specified [RCV004625152]	uncertain significance	15	86143782	86143782	Human		name
408378322	CV3512002	single nucleotide variant	NM_001386094.1(AGBL1):c.2904G>T (p.Thr968=)	AGBL1-related disorder [RCV004752214]	likely benign	15	86554447	86554447	Human		name , trait , alternate_id
126744358	CV1017991	deletion	NM_001386094.1(AGBL1):c.2255del (p.Leu752fs)	Corneal dystrophy, Fuchs endothelial, 8 [RCV001330420]	pathogenic	15	86295289	86295289	Human		name
126738192	CV1021374	single nucleotide variant	NM_001386094.1(AGBL1):c.466C>T (p.Arg156Ter)	Corneal dystrophy, Fuchs endothelial, 8 [RCV001335469]	pathogenic	15	86159004	86159004	Human		name
126738183	CV1021375	deletion	NM_001386094.1(AGBL1):c.1869del (p.Asp623fs)	Corneal dystrophy, Fuchs endothelial, 8 [RCV001335467]	pathogenic	15	86269949	86269949	Human		name
151350659	CV1325625	duplication	NM_001386094.1(AGBL1):c.1298dup (p.Asn433fs)	not provided [RCV001814912]	uncertain significance	15	86264461	86264462	Human		name
156173264	CV2194341	single nucleotide variant	NM_001386094.1(AGBL1):c.596A>G (p.His199Arg)	not specified [RCV004079452]	uncertain significance	15	86247740	86247740	Human		name
155994979	CV2250296	single nucleotide variant	NM_001386094.1(AGBL1):c.688G>C (p.Ala230Pro)	not specified [RCV004127194]	uncertain significance	15	86247832	86247832	Human		name
156005945	CV2290425	single nucleotide variant	NM_001386094.1(AGBL1):c.932T>G (p.Val311Gly)	not specified [RCV004154840]	uncertain significance	15	86257994	86257994	Human		name
156280701	CV2315997	single nucleotide variant	NM_001386094.1(AGBL1):c.449T>C (p.Val150Ala)	not specified [RCV004172059]	uncertain significance	15	86158987	86158987	Human		name
156391117	CV2385111	single nucleotide variant	NM_001386094.1(AGBL1):c.908T>C (p.Phe303Ser)	not specified [RCV004228373]	uncertain significance	15	86257970	86257970	Human		name
329351718	CV2476600	single nucleotide variant	NM_001386094.1(AGBL1):c.622G>A (p.Val208Met)	not provided [RCV003222832]	benign	15	86247766	86247766	Human		name
401742155	CV2697710	single nucleotide variant	NM_001386094.1(AGBL1):c.538C>T (p.Arg180Cys)	not specified [RCV004300449]	uncertain significance	15	86247682	86247682	Human		name
401888379	CV2788417	single nucleotide variant	NM_001386094.1(AGBL1):c.826G>T (p.Val276Phe)	not specified [RCV004354948]	uncertain significance	15	86256943	86256943	Human		name
401940349	CV2839200	single nucleotide variant	NM_001386094.1(AGBL1):c.785A>C (p.Gln262Pro)	Corneal dystrophy, Fuchs endothelial, 8 [RCV003448758]	uncertain significance	15	86256902	86256902	Human	1	name
405275536	CV3196384	single nucleotide variant	NM_001386094.1(AGBL1):c.968A>G (p.Glu323Gly)	AGBL1-related disorder [RCV003974224]\|Fuchs' endothelial dystrophy [RCV005358077]	benign\|uncertain significance	15	86258030	86258030	Human	2	name , trait , alternate_id
405284239	CV3196717	single nucleotide variant	NM_001386094.1(AGBL1):c.806C>T (p.Pro269Leu)	AGBL1-related disorder [RCV003979613]	benign	15	86256923	86256923	Human		name , trait , alternate_id
405258725	CV3215100	single nucleotide variant	NM_001386094.1(AGBL1):c.3078C>T (p.Ala1026=)	AGBL1-related disorder [RCV003942158]	likely benign	15	86674356	86674356	Human		name , trait , alternate_id
405759654	CV3253593	single nucleotide variant	NM_001386094.1(AGBL1):c.400A>C (p.Met134Leu)	not specified [RCV004394027]	uncertain significance	15	86158938	86158938	Human		name
405759870	CV3253629	single nucleotide variant	NM_001386094.1(AGBL1):c.496A>G (p.Thr166Ala)	not specified [RCV004394063]	uncertain significance	15	86224921	86224921	Human		name
405759891	CV3253633	single nucleotide variant	NM_001386094.1(AGBL1):c.534C>G (p.Asn178Lys)	not specified [RCV004394067]	uncertain significance	15	86247678	86247678	Human		name
405759925	CV3253639	single nucleotide variant	NM_001386094.1(AGBL1):c.673C>T (p.Arg225Trp)	not specified [RCV004394073]	uncertain significance	15	86247817	86247817	Human		name
405760052	CV3253661	single nucleotide variant	NM_001386094.1(AGBL1):c.934G>T (p.Asp312Tyr)	not specified [RCV004394095]	uncertain significance	15	86257996	86257996	Human		name
597802476	CV3670183	single nucleotide variant	NM_001386094.1(AGBL1):c.755G>A (p.Ser252Asn)	not specified [RCV004906704]	uncertain significance	15	86256872	86256872	Human		name
597802512	CV3670211	single nucleotide variant	NM_001386094.1(AGBL1):c.999G>C (p.Lys333Asn)	not specified [RCV004906724]	uncertain significance	15	86262807	86262807	Human		name
597802547	CV3670231	single nucleotide variant	NM_001386094.1(AGBL1):c.740G>T (p.Cys247Phe)	not specified [RCV004906740]	uncertain significance	15	86256857	86256857	Human		name
597802562	CV3670241	single nucleotide variant	NM_001386094.1(AGBL1):c.409A>G (p.Met137Val)	not specified [RCV004906747]	uncertain significance	15	86158947	86158947	Human		name
597802601	CV3670274	single nucleotide variant	NM_001386094.1(AGBL1):c.391A>G (p.Ser131Gly)	not specified [RCV004906765]	uncertain significance	15	86154558	86154558	Human		name
597802631	CV3670309	single nucleotide variant	NM_001386094.1(AGBL1):c.473G>A (p.Arg158His)	not specified [RCV004906780]	likely benign	15	86159011	86159011	Human		name
598163567	CV3953514	single nucleotide variant	NM_001386094.1(AGBL1):c.635G>A (p.Arg212Gln)	not specified [RCV005329381]	uncertain significance	15	86247779	86247779	Human		name
598164034	CV3953594	single nucleotide variant	NM_001386094.1(AGBL1):c.493G>A (p.Ala165Thr)	not specified [RCV005329461]	uncertain significance	15	86224918	86224918	Human		name
38464059	CV919600	single nucleotide variant	NM_001386094.1(AGBL1):c.985A>T (p.Thr329Ser)	Corneal dystrophy, Fuchs endothelial, 8 [RCV001199096]\|not specified [RCV004033483]	uncertain significance	15	86262793	86262793	Human	1	name
156401167	CV2210575	single nucleotide variant	NM_001386094.1(AGBL1):c.1408G>A (p.Val470Ile)	not specified [RCV004083730]	likely benign	15	86264579	86264579	Human		name
155920366	CV2210789	single nucleotide variant	NM_001386094.1(AGBL1):c.2499A>C (p.Glu833Asp)	not specified [RCV004085882]	uncertain significance	15	86397490	86397490	Human		name
156108092	CV2214338	single nucleotide variant	NM_001386094.1(AGBL1):c.1568C>G (p.Ser523Cys)	not specified [RCV004086325]	uncertain significance	15	86264739	86264739	Human		name
156274094	CV2254755	single nucleotide variant	NM_001386094.1(AGBL1):c.1451A>C (p.Asn484Thr)	not specified [RCV004115226]	uncertain significance	15	86264622	86264622	Human		name
156260837	CV2274219	single nucleotide variant	NM_001386094.1(AGBL1):c.1831G>C (p.Val611Leu)	not specified [RCV004136626]	uncertain significance	15	86267069	86267069	Human		name
155906833	CV2279473	single nucleotide variant	NM_001386094.1(AGBL1):c.1211G>C (p.Gly404Ala)	not specified [RCV004141999]	uncertain significance	15	86264382	86264382	Human		name
155985408	CV2282305	single nucleotide variant	NM_001386094.1(AGBL1):c.1971C>A (p.Asn657Lys)	not specified [RCV004133134]	uncertain significance	15	86270051	86270051	Human		name
156018296	CV2302800	single nucleotide variant	NM_001386094.1(AGBL1):c.2645G>C (p.Gly882Ala)	not specified [RCV004162712]	uncertain significance	15	86522899	86522899	Human		name
155960019	CV2313977	single nucleotide variant	NM_001386094.1(AGBL1):c.1249T>C (p.Cys417Arg)	not specified [RCV004164273]	uncertain significance	15	86264420	86264420	Human		name
156162858	CV2323564	single nucleotide variant	NM_001386094.1(AGBL1):c.1498C>A (p.Gln500Lys)	not specified [RCV004165760]	uncertain significance	15	86264669	86264669	Human		name
156152906	CV2328483	single nucleotide variant	NM_001386094.1(AGBL1):c.1270T>A (p.Ser424Thr)	not specified [RCV004175862]	uncertain significance	15	86264441	86264441	Human		name
156177266	CV2331228	single nucleotide variant	NM_001386094.1(AGBL1):c.1591G>T (p.Ala531Ser)	not specified [RCV004181831]	uncertain significance	15	86264762	86264762	Human		name
155973442	CV2332401	single nucleotide variant	NM_001386094.1(AGBL1):c.1990A>T (p.Met664Leu)	not specified [RCV004196133]	uncertain significance	15	86271621	86271621	Human		name
156052218	CV2336723	single nucleotide variant	NM_001386094.1(AGBL1):c.1918A>G (p.Met640Val)	not specified [RCV004196963]	uncertain significance	15	86269998	86269998	Human		name
156116052	CV2349348	single nucleotide variant	NM_001386094.1(AGBL1):c.1690C>T (p.Arg564Trp)	not specified [RCV004199287]	uncertain significance	15	86266396	86266396	Human		name
156225110	CV2352635	single nucleotide variant	NM_001386094.1(AGBL1):c.2369A>G (p.Gln790Arg)	not specified [RCV004198668]	uncertain significance	15	86295403	86295403	Human		name
155928428	CV2360030	single nucleotide variant	NM_001386094.1(AGBL1):c.1334A>G (p.Asn445Ser)	not specified [RCV004212865]	uncertain significance	15	86264505	86264505	Human		name
156135094	CV2362171	single nucleotide variant	NM_001386094.1(AGBL1):c.1169C>A (p.Ser390Tyr)	not specified [RCV004209971]	uncertain significance	15	86264340	86264340	Human		name
156385713	CV2364546	single nucleotide variant	NM_001386094.1(AGBL1):c.1925C>T (p.Ala642Val)	not specified [RCV004217405]	uncertain significance	15	86270005	86270005	Human		name
156210293	CV2378116	single nucleotide variant	NM_001386094.1(AGBL1):c.2987C>T (p.Pro996Leu)	not specified [RCV004233038]	uncertain significance	15	86554530	86554530	Human		name
155936317	CV2379803	single nucleotide variant	NM_001386094.1(AGBL1):c.1835G>A (p.Arg612His)	not specified [RCV004219917]	uncertain significance	15	86267073	86267073	Human		name
155993205	CV2381732	single nucleotide variant	NM_001386094.1(AGBL1):c.1784G>A (p.Arg595Gln)	not specified [RCV004232188]	likely benign	15	86267022	86267022	Human		name
156044113	CV2397077	single nucleotide variant	NM_001386094.1(AGBL1):c.2332G>T (p.Ala778Ser)	not specified [RCV004236587]	uncertain significance	15	86295366	86295366	Human		name
329398864	CV2443023	single nucleotide variant	NM_001386094.1(AGBL1):c.1654T>C (p.Cys552Arg)	not specified [RCV004253614]	uncertain significance	15	86264825	86264825	Human		name
329352495	CV2453097	single nucleotide variant	NM_001386094.1(AGBL1):c.2224C>T (p.His742Tyr)	not specified [RCV004277702]	uncertain significance	15	86295258	86295258	Human		name
401726978	CV2684416	single nucleotide variant	NM_001386094.1(AGBL1):c.1454C>G (p.Ser485Cys)	not specified [RCV004291493]	uncertain significance	15	86264625	86264625	Human		name
401738108	CV2700979	single nucleotide variant	NM_001386094.1(AGBL1):c.2173G>A (p.Val725Ile)	not specified [RCV004307236]	uncertain significance	15	86279736	86279736	Human		name
401759220	CV2705453	single nucleotide variant	NM_001386094.1(AGBL1):c.1350T>G (p.Asp450Glu)	not specified [RCV004312113]	uncertain significance	15	86264521	86264521	Human		name
401759270	CV2708556	single nucleotide variant	NM_001386094.1(AGBL1):c.2918T>A (p.Val973Glu)	not specified [RCV004307551]	uncertain significance	15	86554461	86554461	Human		name
401721419	CV2709954	single nucleotide variant	NM_001386094.1(AGBL1):c.1843G>A (p.Glu615Lys)	not specified [RCV004315024]	uncertain significance	15	86269923	86269923	Human		name
401742794	CV2715320	single nucleotide variant	NM_001386094.1(AGBL1):c.2252A>G (p.Asn751Ser)	not specified [RCV004324656]	uncertain significance	15	86295286	86295286	Human		name
401760479	CV2718854	single nucleotide variant	NM_001386094.1(AGBL1):c.2495G>A (p.Arg832Lys)	not specified [RCV004328594]	uncertain significance	15	86397486	86397486	Human		name
401774426	CV2727837	single nucleotide variant	NM_001386094.1(AGBL1):c.1357G>A (p.Glu453Lys)	not specified [RCV004323859]	uncertain significance	15	86264528	86264528	Human		name
401779117	CV2733136	single nucleotide variant	NM_001386094.1(AGBL1):c.2931G>A (p.Met977Ile)	not specified [RCV004332066]	likely benign	15	86554474	86554474	Human		name
401866384	CV2775527	single nucleotide variant	NM_001386094.1(AGBL1):c.1379A>T (p.Gln460Leu)	not specified [RCV004350701]	uncertain significance	15	86264550	86264550	Human		name
401877661	CV2779900	single nucleotide variant	NM_001386094.1(AGBL1):c.1439C>A (p.Ala480Asp)	not specified [RCV004353514]	uncertain significance	15	86264610	86264610	Human		name
401879990	CV2783057	single nucleotide variant	NM_001386094.1(AGBL1):c.1234C>G (p.Gln412Glu)	not specified [RCV004363425]	uncertain significance	15	86264405	86264405	Human		name
401896913	CV2788847	single nucleotide variant	NM_001386094.1(AGBL1):c.2464G>T (p.Val822Phe)	not specified [RCV004361301]	uncertain significance	15	86397455	86397455	Human		name
401936117	CV2796262	single nucleotide variant	NM_001386094.1(AGBL1):c.1775A>G (p.Asn592Ser)	AGBL1-related disorder [RCV003414088]	uncertain significance	15	86267013	86267013	Human		name , trait , alternate_id
401901609	CV2802236	single nucleotide variant	NM_001386094.1(AGBL1):c.2902A>G (p.Thr968Ala)	AGBL1-related disorder [RCV003393039]	uncertain significance	15	86554445	86554445	Human		name , trait , alternate_id
405280861	CV3190628	single nucleotide variant	NM_001386094.1(AGBL1):c.2609G>A (p.Ser870Asn)	AGBL1-related disorder [RCV003907066]	likely benign	15	86522863	86522863	Human		name , trait , alternate_id
405272103	CV3203120	single nucleotide variant	NM_001386094.1(AGBL1):c.2086C>T (p.Arg696Cys)	AGBL1-related disorder [RCV003914165]	likely benign	15	86279649	86279649	Human		name , trait , alternate_id
405258249	CV3203165	single nucleotide variant	NM_001386094.1(AGBL1):c.2457G>T (p.Glu819Asp)	AGBL1-related disorder [RCV003941776]	likely benign	15	86397448	86397448	Human		name , trait , alternate_id
405270601	CV3212028	single nucleotide variant	NM_001386094.1(AGBL1):c.1159G>C (p.Ala387Pro)	AGBL1-related disorder [RCV003949416]	uncertain significance	15	86264330	86264330	Human		name , trait , alternate_id
405293607	CV3214349	single nucleotide variant	NM_001386094.1(AGBL1):c.1102C>G (p.Leu368Val)	AGBL1-related disorder [RCV003932041]	likely benign	15	86264273	86264273	Human		name , trait , alternate_id
405261100	CV3216103	single nucleotide variant	NM_001386094.1(AGBL1):c.2926G>C (p.Glu976Gln)	AGBL1-related disorder [RCV003944323]	likely benign	15	86554469	86554469	Human		name , trait , alternate_id
405758998	CV3253481	single nucleotide variant	NM_001386094.1(AGBL1):c.1376T>A (p.Ile459Asn)	not specified [RCV004393915]	uncertain significance	15	86264547	86264547	Human		name
405759099	CV3253499	single nucleotide variant	NM_001386094.1(AGBL1):c.1529A>G (p.Asp510Gly)	not specified [RCV004393933]	uncertain significance	15	86264700	86264700	Human		name
405759117	CV3253502	single nucleotide variant	NM_001386094.1(AGBL1):c.1538T>C (p.Leu513Pro)	not specified [RCV004393936]	uncertain significance	15	86264709	86264709	Human		name
405759148	CV3253507	single nucleotide variant	NM_001386094.1(AGBL1):c.1621C>A (p.Pro541Thr)	not specified [RCV004393941]	uncertain significance	15	86264792	86264792	Human		name
405759202	CV3253516	single nucleotide variant	NM_001386094.1(AGBL1):c.1691G>A (p.Arg564Gln)	not specified [RCV004393950]	uncertain significance	15	86266397	86266397	Human		name
405759227	CV3253520	single nucleotide variant	NM_001386094.1(AGBL1):c.1691G>C (p.Arg564Pro)	not specified [RCV004393954]	uncertain significance	15	86266397	86266397	Human		name
405759254	CV3253524	single nucleotide variant	NM_001386094.1(AGBL1):c.1777T>A (p.Cys593Ser)	not specified [RCV004393958]	uncertain significance	15	86267015	86267015	Human		name
405759276	CV3253528	single nucleotide variant	NM_001386094.1(AGBL1):c.1783C>T (p.Arg595Trp)	not specified [RCV004393962]	uncertain significance	15	86267021	86267021	Human		name
405759345	CV3253539	single nucleotide variant	NM_001386094.1(AGBL1):c.1915G>A (p.Gly639Ser)	not specified [RCV004393973]	uncertain significance	15	86269995	86269995	Human		name
405759431	CV3253554	single nucleotide variant	NM_001386094.1(AGBL1):c.2044A>T (p.Ile682Leu)	not specified [RCV004393988]	uncertain significance	15	86271675	86271675	Human		name
405759501	CV3253566	single nucleotide variant	NM_001386094.1(AGBL1):c.2422A>G (p.Ser808Gly)	not specified [RCV004394000]	uncertain significance	15	86397413	86397413	Human		name
405759596	CV3253583	single nucleotide variant	NM_001386094.1(AGBL1):c.2584T>A (p.Leu862Met)	not specified [RCV004394017]	uncertain significance	15	86522838	86522838	Human		name
405759667	CV3253595	single nucleotide variant	NM_001386094.1(AGBL1):c.2810A>G (p.Asn937Ser)	not specified [RCV004394029]	likely benign	15	86546126	86546126	Human		name
405759681	CV3253597	single nucleotide variant	NM_001386094.1(AGBL1):c.2821C>T (p.Leu941Phe)	not specified [RCV004394031]	uncertain significance	15	86554364	86554364	Human		name
405759711	CV3253603	single nucleotide variant	NM_001386094.1(AGBL1):c.2951C>G (p.Thr984Ser)	not specified [RCV004394037]	uncertain significance	15	86554494	86554494	Human		name
405760101	CV3253670	single nucleotide variant	NM_001386094.1(AGBL1):c.1019T>G (p.Leu340Arg)	not specified [RCV004394104]	uncertain significance	15	86262827	86262827	Human		name
405760135	CV3253676	single nucleotide variant	NM_001386094.1(AGBL1):c.1027C>A (p.Pro343Thr)	not specified [RCV004394110]	uncertain significance	15	86262835	86262835	Human		name
405760153	CV3253679	single nucleotide variant	NM_001386094.1(AGBL1):c.1054G>T (p.Val352Leu)	not specified [RCV004394113]	uncertain significance	15	86262862	86262862	Human		name
405760213	CV3253689	single nucleotide variant	NM_001386094.1(AGBL1):c.1129A>G (p.Thr377Ala)	not specified [RCV004394123]	uncertain significance	15	86264300	86264300	Human		name
405867468	CV3401344	single nucleotide variant	NM_001386094.1(AGBL1):c.1641G>T (p.Met547Ile)	Corneal dystrophy, Fuchs endothelial, 8 [RCV004577653]	benign	15	86264812	86264812	Human	1	name
407507170	CV3435032	single nucleotide variant	NM_001386094.1(AGBL1):c.2908C>T (p.Arg970Trp)	not specified [RCV004625007]	uncertain significance	15	86554451	86554451	Human		name
407507192	CV3435042	single nucleotide variant	NM_001386094.1(AGBL1):c.1817G>A (p.Arg606His)	not specified [RCV004625017]	uncertain significance	15	86267055	86267055	Human		name
407507230	CV3435057	single nucleotide variant	NM_001386094.1(AGBL1):c.2995G>C (p.Gly999Arg)	not specified [RCV004625032]	uncertain significance	15	86674273	86674273	Human		name
407507254	CV3435067	single nucleotide variant	NM_001386094.1(AGBL1):c.2437G>C (p.Val813Leu)	not specified [RCV004625042]	uncertain significance	15	86397428	86397428	Human		name
407507300	CV3435085	single nucleotide variant	NM_001386094.1(AGBL1):c.2066G>A (p.Cys689Tyr)	not specified [RCV004625059]	uncertain significance	15	86271697	86271697	Human		name
407507358	CV3435103	single nucleotide variant	NM_001386094.1(AGBL1):c.1609G>A (p.Gly537Arg)	not specified [RCV004625077]	uncertain significance	15	86264780	86264780	Human		name
407507404	CV3435115	single nucleotide variant	NM_001386094.1(AGBL1):c.1139C>A (p.Ala380Asp)	not specified [RCV004625089]	uncertain significance	15	86264310	86264310	Human		name
407507442	CV3435126	single nucleotide variant	NM_001386094.1(AGBL1):c.2157C>A (p.Phe719Leu)	not specified [RCV004625100]	uncertain significance	15	86279720	86279720	Human		name
407507474	CV3435135	single nucleotide variant	NM_001386094.1(AGBL1):c.1025G>A (p.Arg342Gln)	not specified [RCV004625109]	uncertain significance	15	86262833	86262833	Human		name
407507511	CV3435146	single nucleotide variant	NM_001386094.1(AGBL1):c.1847A>G (p.Tyr616Cys)	not specified [RCV004625120]	uncertain significance	15	86269927	86269927	Human		name
407507543	CV3435156	single nucleotide variant	NM_001386094.1(AGBL1):c.2612C>T (p.Ala871Val)	not specified [RCV004625130]	uncertain significance	15	86522866	86522866	Human		name
407507583	CV3435167	single nucleotide variant	NM_001386094.1(AGBL1):c.2606C>T (p.Pro869Leu)	not specified [RCV004625141]	uncertain significance	15	86522860	86522860	Human		name
407507643	CV3435187	single nucleotide variant	NM_001386094.1(AGBL1):c.1624C>T (p.Pro542Ser)	not specified [RCV004625161]	likely benign	15	86264795	86264795	Human		name
407459872	CV3496904	single nucleotide variant	NM_001386094.1(AGBL1):c.2423G>C (p.Ser808Thr)	Corneal dystrophy, Fuchs endothelial, 8 [RCV004698719]	benign	15	86397414	86397414	Human	1	name
596945197	CV3547721	single nucleotide variant	NM_001386094.1(AGBL1):c.1352C>A (p.Ser451Tyr)	not provided [RCV004809052]	likely benign	15	86264523	86264523	Human		name
597802489	CV3670192	single nucleotide variant	NM_001386094.1(AGBL1):c.1635G>C (p.Gln545His)	not specified [RCV004906710]	uncertain significance	15	86264806	86264806	Human		name
597735269	CV3670202	single nucleotide variant	NM_001386094.1(AGBL1):c.2392G>T (p.Val798Leu)	not specified [RCV004920440]	uncertain significance	15	86397383	86397383	Human		name
597735337	CV3670252	single nucleotide variant	NM_001386094.1(AGBL1):c.1512G>T (p.Lys504Asn)	not specified [RCV004920453]	uncertain significance	15	86264683	86264683	Human		name
597735347	CV3670262	single nucleotide variant	NM_001386094.1(AGBL1):c.2564G>A (p.Cys855Tyr)	not specified [RCV004920455]	uncertain significance	15	86522818	86522818	Human		name
597802599	CV3670266	single nucleotide variant	NM_001386094.1(AGBL1):c.2281G>A (p.Val761Ile)	not specified [RCV004906764]	uncertain significance	15	86295315	86295315	Human		name
597802605	CV3670282	single nucleotide variant	NM_001386094.1(AGBL1):c.1434G>A (p.Met478Ile)	not specified [RCV004906767]	likely benign	15	86264605	86264605	Human		name
597802614	CV3670290	single nucleotide variant	NM_001386094.1(AGBL1):c.1664A>G (p.Gln555Arg)	not specified [RCV004906771]	uncertain significance	15	86264835	86264835	Human		name
597802621	CV3670299	single nucleotide variant	NM_001386094.1(AGBL1):c.2445G>T (p.Lys815Asn)	not specified [RCV004906774]	uncertain significance	15	86397436	86397436	Human		name
597735406	CV3670317	single nucleotide variant	NM_001386094.1(AGBL1):c.2735A>T (p.Tyr912Phe)	not specified [RCV004920467]	uncertain significance	15	86546051	86546051	Human		name
597802645	CV3670322	single nucleotide variant	NM_001386094.1(AGBL1):c.2574C>A (p.Ser858Arg)	not specified [RCV004906787]	likely benign	15	86522828	86522828	Human		name
597802647	CV3670327	single nucleotide variant	NM_001386094.1(AGBL1):c.1178A>G (p.Gln393Arg)	not specified [RCV004906788]	uncertain significance	15	86264349	86264349	Human		name
597802659	CV3670336	single nucleotide variant	NM_001386094.1(AGBL1):c.1801G>C (p.Glu601Gln)	not specified [RCV004906794]	uncertain significance	15	86267039	86267039	Human		name
597802671	CV3670347	single nucleotide variant	NM_001386094.1(AGBL1):c.1719A>G (p.Ile573Met)	not specified [RCV004906800]	uncertain significance	15	86266425	86266425	Human		name
597802784	CV3670355	single nucleotide variant	NM_001386094.1(AGBL1):c.2545A>G (p.Ile849Val)	not specified [RCV004906807]	uncertain significance	15	86397536	86397536	Human		name
598129028	CV3886831	single nucleotide variant	NM_001386094.1(AGBL1):c.1616G>C (p.Cys539Ser)	not provided [RCV005244491]	likely benign	15	86264787	86264787	Human		name
598129049	CV3886852	single nucleotide variant	NM_001386094.1(AGBL1):c.1849G>A (p.Asp617Asn)	not provided [RCV005244512]	likely benign	15	86269929	86269929	Human		name
598243884	CV3895257	single nucleotide variant	NM_001386094.1(AGBL1):c.2674C>T (p.Arg892Ter)	Fuchs' endothelial dystrophy [RCV005365601]	uncertain significance	15	86522928	86522928	Human	1	name
598163357	CV3953479	single nucleotide variant	NM_001386094.1(AGBL1):c.2724T>G (p.Asn908Lys)	not specified [RCV005329346]	uncertain significance	15	86546040	86546040	Human		name
598163617	CV3953523	single nucleotide variant	NM_001386094.1(AGBL1):c.1864G>A (p.Ala622Thr)	not specified [RCV005329390]	uncertain significance	15	86269944	86269944	Human		name
598163717	CV3953540	single nucleotide variant	NM_001386094.1(AGBL1):c.2191C>A (p.His731Asn)	not specified [RCV005329407]	uncertain significance	15	86279754	86279754	Human		name
598163768	CV3953549	single nucleotide variant	NM_001386094.1(AGBL1):c.2243A>G (p.Lys748Arg)	not specified [RCV005329416]	uncertain significance	15	86295277	86295277	Human		name
598163822	CV3953559	single nucleotide variant	NM_001386094.1(AGBL1):c.2783G>A (p.Gly928Asp)	not specified [RCV005329426]	uncertain significance	15	86546099	86546099	Human		name
598163877	CV3953568	single nucleotide variant	NM_001386094.1(AGBL1):c.1915G>T (p.Gly639Cys)	not specified [RCV005329435]	uncertain significance	15	86269995	86269995	Human		name
598163937	CV3953578	single nucleotide variant	NM_001386094.1(AGBL1):c.1254G>T (p.Arg418Ser)	not specified [RCV005329445]	uncertain significance	15	86264425	86264425	Human		name
598163980	CV3953585	single nucleotide variant	NM_001386094.1(AGBL1):c.2813A>G (p.Tyr938Cys)	not specified [RCV005329452]	uncertain significance	15	86546129	86546129	Human		name
150477023	CV1271986	single nucleotide variant	NM_001386094.1(AGBL1):c.3104A>G (p.Gln1035Arg)	not provided [RCV001696271]	benign	15	86674382	86674382	Human		name
156369628	CV2194036	single nucleotide variant	NM_001386094.1(AGBL1):c.3064G>A (p.Glu1022Lys)	not specified [RCV004076800]	uncertain significance	15	86674342	86674342	Human		name
155983718	CV2273107	single nucleotide variant	NM_001386094.1(AGBL1):c.3154C>A (p.Gln1052Lys)	not specified [RCV004137749]	uncertain significance	15	86674432	86674432	Human		name
156288284	CV2299170	single nucleotide variant	NM_001386094.1(AGBL1):c.3148C>A (p.His1050Asn)	not specified [RCV004152512]	uncertain significance	15	86674426	86674426	Human		name
405278154	CV3216475	single nucleotide variant	NM_001386094.1(AGBL1):c.3125C>G (p.Ala1042Gly)	AGBL1-related disorder [RCV003954407]	benign	15	86674403	86674403	Human		name , trait , alternate_id
405759803	CV3253618	single nucleotide variant	NM_001386094.1(AGBL1):c.3082T>C (p.Cys1028Arg)	not specified [RCV004394052]	uncertain significance	15	86674360	86674360	Human		name
597802532	CV3670221	single nucleotide variant	NM_001386094.1(AGBL1):c.3136G>A (p.Ala1046Thr)	not specified [RCV004906733]	uncertain significance	15	86674414	86674414	Human		name
598163297	CV3953469	single nucleotide variant	NM_001386094.1(AGBL1):c.3083G>C (p.Cys1028Ser)	not specified [RCV005329336]	uncertain significance	15	86674361	86674361	Human		name
8573649	CV94338	single nucleotide variant	NM_001386094.1(AGBL1):c.3157C>T (p.Arg1053Trp)	AGBL1-related disorder [RCV004751253]\|Corneal dystrophy, Fuchs endothelial, 8 [RCV000074408]\|Fuchs' endothelial dystrophy [RCV005357435]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	15	86674435	86674435	Human	2	name , trait , alternate_id
8639020	CV94339	single nucleotide variant	NM_001386094.1(AGBL1):c.3044G>C (p.Cys1015Ser)	Corneal dystrophy, Fuchs endothelial, 8 [RCV000074409]\|Fuchs' endothelial dystrophy [RCV005357436]\|not provided [RCV004584605]	pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	86674322	86674322	Human	2	name

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