Greb1l Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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439 records found for search term Greb1l

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405258242	CV3203158	single nucleotide variant	NM_001142966.3(GREB1L):c.-7G>A	GREB1L-related disorder [RCV003941769]	benign	18	21383512	21383512	Human		name , trait , alternate_id
155911101	CV2141636	single nucleotide variant	NM_001142966.3(GREB1L):c.833-5T>C	not provided [RCV002968057]	likely benign	18	21439516	21439516	Human		name
401907984	CV2801229	single nucleotide variant	NM_001142966.3(GREB1L):c.532+5G>A	GREB1L-related disorder [RCV003397470]	uncertain significance	18	21395566	21395566	Human		name , trait , alternate_id
616938825	CV4015849	single nucleotide variant	NM_001142966.3(GREB1L):c.355+2T>G	Renal hypodysplasia/aplasia 3 [RCV005414401]	likely pathogenic	18	21384405	21384405	Human	1	name
40815892	CV970548	deletion	NM_001142966.3(GREB1L):c.157+1del	Renal hypodysplasia/aplasia 3 [RCV001261996]	likely pathogenic	18	21383675	21383675	Human	1	name
151347890	CV1319023	single nucleotide variant	NM_001142966.3(GREB1L):c.1720+5G>A	Renal agenesis [RCV001807662]	uncertain significance	18	21449841	21449841	Human	2	name
152128786	CV1549110	single nucleotide variant	NM_001142966.3(GREB1L):c.4736-9G>A	not provided [RCV002099197]	benign	18	21513812	21513812	Human		name
152104527	CV1645460	single nucleotide variant	NM_001142966.3(GREB1L):c.532+12A>G	not provided [RCV002133677]	benign	18	21395573	21395573	Human		name
152081078	CV1667081	single nucleotide variant	NM_001142966.3(GREB1L):c.2364-1G>A	not provided [RCV002211427]	likely pathogenic	18	21477163	21477163	Human		name
156401134	CV1889071	single nucleotide variant	NM_001142966.3(GREB1L):c.4902-9A>G	not provided [RCV003069147]	likely benign	18	21515408	21515408	Human		name
156385175	CV1891685	single nucleotide variant	NM_001142966.3(GREB1L):c.3030+9T>C	not provided [RCV003067500]	likely benign	18	21490360	21490360	Human		name
156027041	CV2004659	single nucleotide variant	NM_001142966.3(GREB1L):c.533-17G>A	not provided [RCV002658499]	likely benign	18	21401133	21401133	Human		name
155913852	CV2091561	single nucleotide variant	NM_001142966.3(GREB1L):c.2690+8G>A	not provided [RCV002902951]	benign	18	21485761	21485761	Human		name
156330532	CV2112605	single nucleotide variant	NM_001142966.3(GREB1L):c.1394-6A>G	GREB1L-related disorder [RCV003961235]\|not provided [RCV002938341]	benign	18	21449504	21449504	Human	1	name , trait , alternate_id
243051516	CV2415882	single nucleotide variant	NM_001142966.3(GREB1L):c.1984+3A>C	Renal hypodysplasia/aplasia 3 [RCV003148500]	likely pathogenic	18	21452220	21452220	Human	1	name
243059240	CV2418205	single nucleotide variant	NM_001142966.3(GREB1L):c.3146+1G>A	Mayer Rokitansky Kuster Hauser syndrome type 1 [RCV003153271]	pathogenic	18	21495786	21495786	Human	1	name
405144084	CV3056228	single nucleotide variant	NM_001142966.3(GREB1L):c.4369-9C>G	GREB1L-related disorder [RCV003909117]\|not provided [RCV003725900]	likely benign	18	21508109	21508109	Human	1	name , trait , alternate_id
405242422	CV3078532	single nucleotide variant	NM_001142966.3(GREB1L):c.5130-7A>C	not provided [RCV003737466]	benign	18	21516606	21516606	Human		name
405060350	CV3129494	single nucleotide variant	NM_001142966.3(GREB1L):c.158-16T>C	not provided [RCV003832763]	likely benign	18	21384190	21384190	Human		name
402479765	CV3170607	single nucleotide variant	NM_001142966.3(GREB1L):c.3969+5G>A	not provided [RCV003875809]	uncertain significance	18	21500311	21500311	Human		name
404982985	CV3179621	duplication	NM_001142966.3(GREB1L):c.950-13dup	not provided [RCV003880602]	benign	18	21440249	21440250	Human		name
405264003	CV3189904	deletion	NM_001142966.3(GREB1L):c.5472+7del	GREB1L-related disorder [RCV003896952]	likely benign	18	21518237	21518237	Human		name , trait , alternate_id
405276724	CV3207790	single nucleotide variant	NM_001142966.3(GREB1L):c.2690+9T>C	GREB1L-related disorder [RCV003917264]\|not provided [RCV005064813]	benign\|likely benign	18	21485762	21485762	Human	1	name , trait , alternate_id
405285541	CV3209616	single nucleotide variant	NM_001142966.3(GREB1L):c.1850-6T>C	GREB1L-related disorder [RCV003959199]	likely benign	18	21452077	21452077	Human		name , trait , alternate_id
405261154	CV3212409	single nucleotide variant	NM_001142966.3(GREB1L):c.4735+6G>A	GREB1L-related disorder [RCV003944406]	likely benign	18	21508597	21508597	Human		name , trait , alternate_id
405282488	CV3212957	single nucleotide variant	NM_001142966.3(GREB1L):c.3146+5A>T	GREB1L-related disorder [RCV003957070]	likely benign	18	21495790	21495790	Human		name , trait , alternate_id
405294357	CV3214846	single nucleotide variant	NM_001142966.3(GREB1L):c.1208-9T>C	GREB1L-related disorder [RCV003934257]	likely benign	18	21444215	21444215	Human		name , trait , alternate_id
405275594	CV3215996	single nucleotide variant	NM_001142966.3(GREB1L):c.2182+4A>G	GREB1L-related disorder [RCV003952271]	likely benign	18	21454567	21454567	Human		name , trait , alternate_id
405853725	CV3395157	single nucleotide variant	NM_001142966.3(GREB1L):c.1984+5T>C	Renal hypodysplasia/aplasia 3 [RCV004555299]	uncertain significance	18	21452222	21452222	Human	1	name
596924958	CV3541746	single nucleotide variant	NM_001142966.3(GREB1L):c.2183-2A>G	Renal hypodysplasia/aplasia 3 [RCV004795457]	uncertain significance	18	21473029	21473029	Human	1	name
597721610	CV3733772	single nucleotide variant	NM_001142966.3(GREB1L):c.2556+1G>A	Hearing loss, autosomal dominant 80 [RCV005053077]	pathogenic	18	21477357	21477357	Human	1	name
597959700	CV3746078	single nucleotide variant	NM_001142966.3(GREB1L):c.355+12T>C	not provided [RCV005081326]	likely benign	18	21384415	21384415	Human		name
597949195	CV3772297	single nucleotide variant	NM_001142966.3(GREB1L):c.3392-9C>A	not provided [RCV005120616]	likely benign	18	21499720	21499720	Human		name
597945894	CV3807431	deletion	NM_001142966.3(GREB1L):c.709+11del	not provided [RCV005160066]	likely benign	18	21401335	21401335	Human		name
597924430	CV3840414	single nucleotide variant	NM_001142966.3(GREB1L):c.4735+8G>A	not provided [RCV005184883]	benign	18	21508599	21508599	Human		name
13481763	CV446868	deletion	NM_001142966.3(GREB1L):c.5608+1del	Renal hypodysplasia/aplasia 3 [RCV000551574]	pathogenic	18	21520823	21520823	Human	1	name
13472333	CV446875	single nucleotide variant	NM_001142966.3(GREB1L):c.4369-1G>C	Renal hypodysplasia/aplasia 3 [RCV000524866]	pathogenic	18	21508117	21508117	Human	1	name
152106849	CV1609707	single nucleotide variant	NM_001142966.3(GREB1L):c.1721-12T>C	not provided [RCV002116036]	benign	18	21451011	21451011	Human		name
156324953	CV1980489	deletion	NM_001142966.3(GREB1L):c.5608+13del	not provided [RCV002630597]	likely benign	18	21520834	21520834	Human		name
156415027	CV1983138	single nucleotide variant	NM_001142966.3(GREB1L):c.3146+15A>G	not provided [RCV002609477]	likely benign	18	21495800	21495800	Human		name
155960584	CV2040443	single nucleotide variant	NM_001142966.3(GREB1L):c.2556+19G>C	not provided [RCV002776249]	benign	18	21477375	21477375	Human		name
156027976	CV2125260	single nucleotide variant	NM_001142966.3(GREB1L):c.2556+11T>C	not provided [RCV002949098]	likely benign	18	21477367	21477367	Human		name
156042553	CV2188044	single nucleotide variant	NM_001142966.3(GREB1L):c.3031-12C>T	not provided [RCV003036626]	likely benign	18	21495658	21495658	Human		name
405242701	CV2967411	single nucleotide variant	NM_001142966.3(GREB1L):c.3392-18C>T	not provided [RCV003684416]	likely benign	18	21499711	21499711	Human		name
405104613	CV3116721	single nucleotide variant	NM_001142966.3(GREB1L):c.5473-11G>A	not provided [RCV003812245]	likely benign	18	21520677	21520677	Human		name
405172597	CV3122772	single nucleotide variant	NM_001142966.3(GREB1L):c.2556+16G>T	not provided [RCV003819170]	likely benign	18	21477372	21477372	Human		name
405142139	CV3125959	single nucleotide variant	NM_001142966.3(GREB1L):c.3969+18G>A	not provided [RCV003816875]	benign	18	21500324	21500324	Human		name
405180397	CV3147458	single nucleotide variant	NM_001142966.3(GREB1L):c.5472+18G>T	not provided [RCV003842360]	likely benign	18	21518252	21518252	Human		name
405168994	CV3149823	single nucleotide variant	NM_001142966.3(GREB1L):c.4228+15C>T	not provided [RCV003841294]	likely benign	18	21505582	21505582	Human		name
405172685	CV3151812	single nucleotide variant	NM_001142966.3(GREB1L):c.2691-11T>G	not provided [RCV003857963]	likely benign	18	21490001	21490001	Human		name
402496455	CV3179162	single nucleotide variant	NM_001142966.3(GREB1L):c.5272-14G>A	not provided [RCV003877429]	likely benign	18	21518020	21518020	Human		name
402521338	CV3179522	duplication	NM_001142966.3(GREB1L):c.4735+14dup	not provided [RCV003879774]	benign	18	21508599	21508600	Human		name
402495751	CV3182961	single nucleotide variant	NM_001142966.3(GREB1L):c.4369-13T>C	not provided [RCV003877269]	likely benign	18	21508105	21508105	Human		name
597908776	CV3739041	single nucleotide variant	NM_001142966.3(GREB1L):c.3030+11G>T	not provided [RCV005073276]	likely benign	18	21490362	21490362	Human		name
597848713	CV3746506	single nucleotide variant	NM_001142966.3(GREB1L):c.4368+16C>T	not provided [RCV005060325]	likely benign	18	21505965	21505965	Human		name
597844968	CV3752689	single nucleotide variant	NM_001142966.3(GREB1L):c.5472+18G>A	not provided [RCV005087095]	likely benign	18	21518252	21518252	Human		name
597847679	CV3762072	single nucleotide variant	NM_001142966.3(GREB1L):c.1070-12T>C	not provided [RCV005087490]	likely benign	18	21441388	21441388	Human		name
597948391	CV3818303	single nucleotide variant	NM_001142966.3(GREB1L):c.1393+15A>G	not provided [RCV005160564]	likely benign	18	21444424	21444424	Human		name
15164901	CV778427	single nucleotide variant	NM_001142966.3(GREB1L):c.1849+10T>C	not provided [RCV000948459]	benign	18	21451161	21451161	Human		name
40814169	CV906229	single nucleotide variant	NM_001142966.3(GREB1L):c.3970-20A>G	Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257334]\|Renal hypodysplasia/aplasia 3 [RCV001290410]	pathogenic\|likely pathogenic\|uncertain significance	18	21500520	21500520	Human	2	name
8649170	CV120184	single nucleotide variant	NM_001142966.1(GREB1L):c.1394-775C>T	Lung cancer [RCV000100704]	uncertain significance	18	21448735	21448735	Human		name
597721608	CV3733771	microsatellite	NM_001142966.3(GREB1L):c.1987_1992del	Hearing loss, autosomal dominant 80 [RCV005053076]	likely pathogenic	18	21454361	21454366	Human		name
8636441	CV91666	single nucleotide variant	NM_001142966.1(GREB1L):c.2183-4257C>T	Malignant melanoma [RCV000071764]	not provided	18	21468774	21468774	Human		name
151779915	CV1341694	duplication	NM_001142966.3(GREB1L):c.5472+1_5472+2dup	not provided [RCV001897140]	uncertain significance	18	21518234	21518235	Human		name
152097602	CV1531527	microsatellite	NM_001142966.3(GREB1L):c.2183-8_2183-6del	not provided [RCV002213574]	likely benign	18	21473018	21473020	Human		name
597974213	CV3821155	single nucleotide variant	NM_001142966.3(GREB1L):c.60C>T (p.Asn20=)	not provided [RCV005168476]	likely benign	18	21383578	21383578	Human		name
156408220	CV1957769	single nucleotide variant	NM_001142966.3(GREB1L):c.14A>G (p.Tyr5Cys)	not provided [RCV002586457]	uncertain significance	18	21383532	21383532	Human		name
156155316	CV2098692	single nucleotide variant	NM_001142966.3(GREB1L):c.159T>C (p.Asp53=)	GREB1L-related disorder [RCV003943526]\|not provided [RCV002890792]	likely benign	18	21384207	21384207	Human	1	name , trait , alternate_id
405718528	CV2851983	single nucleotide variant	NM_001142966.3(GREB1L):c.23A>C (p.Gln8Pro)	Male infertility with azoospermia or oligozoospermia due to single gene mutation [RCV003991611]	likely pathogenic	18	21383541	21383541	Human	1	name
405150422	CV2959564	single nucleotide variant	NM_001142966.3(GREB1L):c.20G>A (p.Gly7Glu)	not provided [RCV003673880]	uncertain significance	18	21383538	21383538	Human		name
405852971	CV3393400	single nucleotide variant	NM_001142966.3(GREB1L):c.297C>T (p.Asn99=)	not provided [RCV004546130]	likely benign	18	21384345	21384345	Human		name
408375569	CV3509792	single nucleotide variant	NM_001142966.3(GREB1L):c.16G>A (p.Ala6Thr)	GREB1L-related disorder [RCV004748133]	uncertain significance	18	21383534	21383534	Human		name , trait , alternate_id
156299767	CV1919891	single nucleotide variant	NM_001142966.3(GREB1L):c.92T>G (p.Val31Gly)	not provided [RCV002599111]	uncertain significance	18	21383610	21383610	Human		name
156402113	CV1992313	single nucleotide variant	NM_001142966.3(GREB1L):c.97C>G (p.Pro33Ala)	not provided [RCV002605705]	uncertain significance	18	21383615	21383615	Human		name
155972583	CV2078131	single nucleotide variant	NM_001142966.3(GREB1L):c.645A>G (p.Leu215=)	not provided [RCV002863389]	likely benign	18	21401262	21401262	Human		name
405064028	CV3139684	single nucleotide variant	NM_001142966.3(GREB1L):c.74C>T (p.Ser25Phe)	not provided [RCV003833031]	uncertain significance	18	21383592	21383592	Human		name
405001202	CV3184018	single nucleotide variant	NM_001142966.3(GREB1L):c.94G>A (p.Val32Ile)	not provided [RCV003882601]	likely benign	18	21383612	21383612	Human		name
405269135	CV3201289	single nucleotide variant	NM_001142966.3(GREB1L):c.783C>T (p.Thr261=)	GREB1L-related disorder [RCV003899394]	likely benign	18	21403945	21403945	Human		name , trait , alternate_id
405871774	CV3398063	single nucleotide variant	NM_001142966.3(GREB1L):c.390A>G (p.Val130=)	not provided [RCV004575064]	likely benign	18	21395419	21395419	Human		name
14746891	CV672283	single nucleotide variant	NM_001142966.3(GREB1L):c.37C>T (p.Arg13Ter)	Renal agenesis and hypodysplasia [RCV000845159]\|Renal hypodysplasia/aplasia 3 [RCV005414332]	likely pathogenic\|association	18	21383555	21383555	Human	2	name
150334962	CV1166277	single nucleotide variant	NM_001142966.3(GREB1L):c.1548C>T (p.Ser516=)	not provided [RCV001531277]	likely benign	18	21449664	21449664	Human		name
152131724	CV1604606	single nucleotide variant	NM_001142966.3(GREB1L):c.2920C>A (p.Arg974=)	not provided [RCV002099580]	likely benign	18	21490241	21490241	Human		name
152157568	CV1630583	single nucleotide variant	NM_001142966.3(GREB1L):c.1438C>T (p.Leu480=)	not provided [RCV002122636]	benign	18	21449554	21449554	Human		name
156158897	CV1906754	single nucleotide variant	NM_001142966.3(GREB1L):c.203G>A (p.Arg68His)	GREB1L-related disorder [RCV004750269]\|not provided [RCV003082814]	uncertain significance	18	21384251	21384251	Human	1	name , trait , alternate_id
156315668	CV1907371	single nucleotide variant	NM_001142966.3(GREB1L):c.1578G>A (p.Val526=)	not provided [RCV003088705]	likely benign	18	21449694	21449694	Human		name
156236108	CV1952787	single nucleotide variant	NM_001142966.3(GREB1L):c.2019G>T (p.Pro673=)	GREB1L-related disorder [RCV003903715]\|not provided [RCV002576058]	likely benign	18	21454400	21454400	Human	1	name , trait , alternate_id
156266021	CV1973871	single nucleotide variant	NM_001142966.3(GREB1L):c.166C>A (p.Pro56Thr)	GREB1L-related disorder [RCV003418561]\|not provided [RCV002597937]	uncertain significance	18	21384214	21384214	Human	1	name , trait , alternate_id
156043714	CV1977945	single nucleotide variant	NM_001142966.3(GREB1L):c.2067G>A (p.Ala689=)	not provided [RCV002590423]	likely benign	18	21454448	21454448	Human		name
156392023	CV2005760	single nucleotide variant	NM_001142966.3(GREB1L):c.2601G>A (p.Glu867=)	not provided [RCV002680860]	likely benign\|uncertain significance	18	21485664	21485664	Human		name
156234714	CV2108782	single nucleotide variant	NM_001142966.3(GREB1L):c.2715C>T (p.Val905=)	not provided [RCV002932974]	likely benign	18	21490036	21490036	Human		name
156035244	CV2128165	single nucleotide variant	NM_001142966.3(GREB1L):c.2799A>G (p.Thr933=)	not provided [RCV002923687]	benign\|likely benign	18	21490120	21490120	Human		name
156101617	CV2132313	single nucleotide variant	NM_001142966.3(GREB1L):c.2652C>T (p.Asp884=)	GREB1L-related disorder [RCV003926639]\|not provided [RCV003002235]	likely benign	18	21485715	21485715	Human	1	name , trait , alternate_id
155950685	CV2133147	single nucleotide variant	NM_001142966.3(GREB1L):c.1062A>G (p.Ser354=)	GREB1L-related disorder [RCV003916707]\|not provided [RCV002994612]	likely benign	18	21440381	21440381	Human	1	name , trait , alternate_id
243052640	CV2412776	single nucleotide variant	NM_001142966.3(GREB1L):c.203G>T (p.Arg68Leu)	GREB1L-related disorder [RCV003946443]\|not provided [RCV003131071]	conflicting interpretations of pathogenicity\|uncertain significance	18	21384251	21384251	Human	1	name , trait , alternate_id
243059874	CV2412779	single nucleotide variant	NM_001142966.3(GREB1L):c.226G>A (p.Asp76Asn)	not provided [RCV003135451]	uncertain significance	18	21384274	21384274	Human		name
401867431	CV2748918	duplication	NM_001142966.3(GREB1L):c.570dup (p.Phe191fs)	Renal hypodysplasia/aplasia 3 [RCV003331740]	pathogenic	18	21401186	21401187	Human	1	name
405070836	CV2876508	single nucleotide variant	NM_001142966.3(GREB1L):c.2367C>T (p.Val789=)	not provided [RCV003548522]	likely benign	18	21477167	21477167	Human		name
405147716	CV2881736	single nucleotide variant	NM_001142966.3(GREB1L):c.2391C>T (p.Ser797=)	GREB1L-related disorder [RCV003939100]\|not provided [RCV003561491]	benign\|likely benign	18	21477191	21477191	Human	1	name , trait , alternate_id
405114413	CV2896743	single nucleotide variant	NM_001142966.3(GREB1L):c.157G>A (p.Asp53Asn)	not provided [RCV003558325]	uncertain significance	18	21383675	21383675	Human		name
402473394	CV2908950	single nucleotide variant	NM_001142966.3(GREB1L):c.2328G>C (p.Val776=)	not provided [RCV003570988]	likely benign	18	21473176	21473176	Human		name
402518538	CV3003463	single nucleotide variant	NM_001142966.3(GREB1L):c.1593G>A (p.Leu531=)	not provided [RCV003716255]	likely benign	18	21449709	21449709	Human		name
405253732	CV3044943	single nucleotide variant	NM_001142966.3(GREB1L):c.1068G>A (p.Thr356=)	not provided [RCV003722667]	uncertain significance	18	21440387	21440387	Human		name
405251671	CV3046213	single nucleotide variant	NM_001142966.3(GREB1L):c.1191A>G (p.Arg397=)	not provided [RCV003721967]	likely benign	18	21441521	21441521	Human		name
405151790	CV3063750	single nucleotide variant	NM_001142966.3(GREB1L):c.1683G>A (p.Ser561=)	not provided [RCV003726414]	likely benign	18	21449799	21449799	Human		name
405023201	CV3139390	single nucleotide variant	NM_001142966.3(GREB1L):c.1071G>A (p.Glu357=)	not provided [RCV003830033]	likely benign	18	21441401	21441401	Human		name
405277705	CV3196072	single nucleotide variant	NM_001142966.3(GREB1L):c.2571C>T (p.Cys857=)	GREB1L-related disorder [RCV003904592]	likely benign	18	21485634	21485634	Human		name , trait , alternate_id
405260509	CV3204104	single nucleotide variant	NM_001142966.3(GREB1L):c.2173C>A (p.Arg725=)	GREB1L-related disorder [RCV003943975]	likely benign	18	21454554	21454554	Human		name , trait , alternate_id
405287705	CV3217916	single nucleotide variant	NM_001142966.3(GREB1L):c.1662T>C (p.Tyr554=)	GREB1L-related disorder [RCV003982039]	likely benign	18	21449778	21449778	Human		name , trait , alternate_id
407457220	CV3416081	single nucleotide variant	NM_001142966.3(GREB1L):c.2715C>G (p.Val905=)	not provided [RCV004598958]	likely benign	18	21490036	21490036	Human		name
408375546	CV3509733	single nucleotide variant	NM_001142966.3(GREB1L):c.2019G>A (p.Pro673=)	GREB1L-related disorder [RCV004748125]	likely benign	18	21454400	21454400	Human		name , trait , alternate_id
597721625	CV3733776	deletion	NM_001142966.3(GREB1L):c.768del (p.Ser257fs)	Hearing loss, autosomal dominant 80 [RCV005053081]	likely pathogenic	18	21403930	21403930	Human	1	name
597895150	CV3744059	single nucleotide variant	NM_001142966.3(GREB1L):c.2835C>T (p.Ser945=)	not provided [RCV005071529]	likely benign	18	21490156	21490156	Human		name
597911392	CV3745609	single nucleotide variant	NM_001142966.3(GREB1L):c.2313G>A (p.Pro771=)	not provided [RCV005073610]	likely benign	18	21473161	21473161	Human		name
597833631	CV3831500	single nucleotide variant	NM_001142966.3(GREB1L):c.1264C>T (p.Leu422=)	not provided [RCV005170702]	likely benign	18	21444280	21444280	Human		name
597962447	CV3840934	single nucleotide variant	NM_001142966.3(GREB1L):c.2904G>A (p.Ala968=)	not provided [RCV005193227]	likely benign	18	21490225	21490225	Human		name
597906947	CV3842925	single nucleotide variant	NM_001142966.3(GREB1L):c.1704T>C (p.Phe568=)	not provided [RCV005182233]	benign	18	21449820	21449820	Human		name
597960392	CV3843640	single nucleotide variant	NM_001142966.3(GREB1L):c.2346C>T (p.Ser782=)	not provided [RCV005192677]	likely benign	18	21473194	21473194	Human		name
597935279	CV3845211	single nucleotide variant	NM_001142966.3(GREB1L):c.2787C>T (p.Arg929=)	not provided [RCV005186524]	likely benign	18	21490108	21490108	Human		name
597859367	CV3850324	single nucleotide variant	NM_001142966.3(GREB1L):c.1905G>C (p.Val635=)	not provided [RCV005195657]	likely benign	18	21452138	21452138	Human		name
597869939	CV3858525	single nucleotide variant	NM_001142966.3(GREB1L):c.2703G>A (p.Leu901=)	not provided [RCV005197268]	likely benign	18	21490024	21490024	Human		name
598212320	CV4009033	single nucleotide variant	NM_001142966.3(GREB1L):c.106A>G (p.Ile36Val)	Renal hypodysplasia/aplasia 3 [RCV005400646]	uncertain significance	18	21383624	21383624	Human	1	name
14350037	CV590901	single nucleotide variant	NM_001142966.3(GREB1L):c.111T>G (p.Phe37Leu)	Short stature [RCV000736151]	likely pathogenic	18	21383629	21383629	Human	2	name
40814180	CV906220	single nucleotide variant	NM_001142966.3(GREB1L):c.277G>A (p.Glu93Lys)	GREB1L-related disorder [RCV003908429]\|Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257340]\|not provided [RCV002555442]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	18	21384325	21384325	Human	3	name , trait , alternate_id
126913616	CV1038647	single nucleotide variant	NM_001142966.3(GREB1L):c.409A>C (p.Ile137Leu)	not provided [RCV001357540]	uncertain significance	18	21395438	21395438	Human		name
126909822	CV1052973	single nucleotide variant	NM_001142966.3(GREB1L):c.705G>T (p.Trp235Cys)	Renal hypodysplasia/aplasia 3 [RCV001374712]	pathogenic	18	21401322	21401322	Human	1	name
150438069	CV1246638	single nucleotide variant	NM_001142966.3(GREB1L):c.3555A>G (p.Glu1185=)	Hearing loss, autosomal dominant 80 [RCV001702953]\|Renal hypodysplasia/aplasia 3 [RCV001702952]\|not provided [RCV001666291]	benign	18	21499892	21499892	Human	2	name
150436490	CV1275148	single nucleotide variant	NM_001142966.3(GREB1L):c.5541T>C (p.Ser1847=)	Hearing loss, autosomal dominant 80 [RCV001702336]\|Renal hypodysplasia/aplasia 3 [RCV001702045]\|not provided [RCV002077168]	benign	18	21520756	21520756	Human	2	name
151235730	CV1318995	single nucleotide variant	NM_001142966.3(GREB1L):c.553G>A (p.Gly185Ser)	Mayer-Rokitansky-Küster-Hauser syndrome type 2 [RCV003153248]\|Renal hypodysplasia/aplasia 3 [RCV001795811]\|not provided [RCV005241468]	uncertain significance	18	21401170	21401170	Human	2	name
152152846	CV1529748	single nucleotide variant	NM_001142966.3(GREB1L):c.3582G>A (p.Ala1194=)	GREB1L-related disorder [RCV003893159]\|not provided [RCV002202244]	likely benign	18	21499919	21499919	Human	1	name , trait , alternate_id
156329166	CV1881154	single nucleotide variant	NM_001142966.3(GREB1L):c.3021G>A (p.Ala1007=)	not provided [RCV003063591]	benign	18	21490342	21490342	Human		name
155983688	CV1897010	single nucleotide variant	NM_001142966.3(GREB1L):c.4071C>T (p.Thr1357=)	not provided [RCV003097506]	uncertain significance	18	21500641	21500641	Human		name
156214491	CV1898771	single nucleotide variant	NM_001142966.3(GREB1L):c.4731C>A (p.Gly1577=)	not provided [RCV003084739]	likely benign	18	21508587	21508587	Human		name
156334728	CV1905907	single nucleotide variant	NM_001142966.3(GREB1L):c.3702A>G (p.Leu1234=)	not provided [RCV003090003]	likely benign	18	21500039	21500039	Human		name
156366804	CV1908579	single nucleotide variant	NM_001142966.3(GREB1L):c.374A>G (p.Lys125Arg)	not provided [RCV002582121]	uncertain significance	18	21395403	21395403	Human		name
156407713	CV1915053	single nucleotide variant	NM_001142966.3(GREB1L):c.722G>A (p.Arg241Gln)	not provided [RCV002606979]	likely benign\|uncertain significance	18	21403884	21403884	Human		name
156443918	CV1941194	single nucleotide variant	NM_001142966.3(GREB1L):c.5385C>T (p.His1795=)	not provided [RCV003114830]	likely benign	18	21518147	21518147	Human		name
156183417	CV1964352	single nucleotide variant	NM_001142966.3(GREB1L):c.4962C>T (p.His1654=)	not provided [RCV002574184]	likely benign	18	21515477	21515477	Human		name
156397172	CV2012535	single nucleotide variant	NM_001142966.3(GREB1L):c.3171G>A (p.Arg1057=)	not provided [RCV002725674]	likely benign	18	21496478	21496478	Human		name
156271585	CV2103088	single nucleotide variant	NM_001142966.3(GREB1L):c.5766T>C (p.His1922=)	GREB1L-related disorder [RCV003961170]\|not provided [RCV002895942]	benign\|likely benign	18	21522815	21522815	Human	1	name , trait , alternate_id
156023020	CV2105878	single nucleotide variant	NM_001142966.3(GREB1L):c.5706C>T (p.Asp1902=)	not provided [RCV002923159]	likely benign	18	21522755	21522755	Human		name
156230239	CV2111966	single nucleotide variant	NM_001142966.3(GREB1L):c.510T>A (p.Asp170Glu)	not provided [RCV002918908]	likely benign	18	21395539	21395539	Human		name
156214407	CV2114700	single nucleotide variant	NM_001142966.3(GREB1L):c.3981G>A (p.Thr1327=)	not provided [RCV002932199]	likely benign	18	21500551	21500551	Human		name
156269872	CV2136443	single nucleotide variant	NM_001142966.3(GREB1L):c.4977A>G (p.Pro1659=)	not provided [RCV003009226]	likely benign	18	21515492	21515492	Human		name
243059871	CV2412775	single nucleotide variant	NM_001142966.3(GREB1L):c.566G>A (p.Arg189Lys)	not provided [RCV003135448]	uncertain significance	18	21401183	21401183	Human		name
243059220	CV2418209	single nucleotide variant	NM_001142966.3(GREB1L):c.575G>A (p.Arg192Gln)	Mayer Rokitansky Kuster Hauser syndrome type 1 [RCV003153275]	uncertain significance	18	21401192	21401192	Human	1	name
243054425	CV2418943	single nucleotide variant	NM_001142966.3(GREB1L):c.833A>T (p.Asp278Val)	Renal hypodysplasia/aplasia 3 [RCV003154627]	uncertain significance	18	21439521	21439521	Human	1	name
401924219	CV2795105	single nucleotide variant	NM_001142966.3(GREB1L):c.968G>A (p.Gly323Glu)	Renal hypodysplasia/aplasia 3 [RCV003388879]	uncertain significance	18	21440287	21440287	Human	1	name
401927310	CV2796816	single nucleotide variant	NM_001142966.3(GREB1L):c.920C>T (p.Pro307Leu)	GREB1L-related disorder [RCV003406123]	uncertain significance	18	21439608	21439608	Human		name , trait , alternate_id
401925886	CV2798451	deletion	NM_001142966.3(GREB1L):c.2232del (p.Ala745fs)	GREB1L-related disorder [RCV003405773]	likely pathogenic	18	21473080	21473080	Human		name , trait , alternate_id
401912493	CV2800582	single nucleotide variant	NM_001142966.3(GREB1L):c.875C>T (p.Ala292Val)	GREB1L-related disorder [RCV003399865]	uncertain significance	18	21439563	21439563	Human		name , trait , alternate_id
401931444	CV2800866	single nucleotide variant	NM_001142966.3(GREB1L):c.974C>T (p.Pro325Leu)	GREB1L-related disorder [RCV003391317]	uncertain significance	18	21440293	21440293	Human		name , trait , alternate_id
401908033	CV2818248	single nucleotide variant	NM_001142966.3(GREB1L):c.5175T>C (p.Ser1725=)	not provided [RCV003423045]	uncertain significance	18	21516658	21516658	Human		name
405717528	CV2851984	single nucleotide variant	NM_001142966.3(GREB1L):c.311C>T (p.Pro104Leu)	Male infertility with azoospermia or oligozoospermia due to single gene mutation [RCV003991612]	likely pathogenic	18	21384359	21384359	Human	1	name
402518569	CV2870886	duplication	NM_001142966.3(GREB1L):c.1013dup (p.Gln340fs)	not provided [RCV003547584]	pathogenic	18	21440331	21440332	Human		name
405216793	CV2872591	single nucleotide variant	NM_001142966.3(GREB1L):c.5088C>T (p.Leu1696=)	not provided [RCV003553327]	likely benign	18	21515603	21515603	Human		name
405199380	CV2877007	single nucleotide variant	NM_001142966.3(GREB1L):c.3915C>T (p.Ala1305=)	not provided [RCV003551234]	likely benign	18	21500252	21500252	Human		name
405239311	CV2885786	single nucleotide variant	NM_001142966.3(GREB1L):c.3810A>G (p.Pro1270=)	not provided [RCV003556932]	likely benign	18	21500147	21500147	Human		name
405130914	CV2953731	single nucleotide variant	NM_001142966.3(GREB1L):c.3384G>A (p.Gly1128=)	not provided [RCV003672398]	likely benign	18	21496691	21496691	Human		name
405139178	CV2970329	single nucleotide variant	NM_001142966.3(GREB1L):c.901G>C (p.Gly301Arg)	not provided [RCV003669049]	uncertain significance	18	21439589	21439589	Human		name
405050781	CV3025568	single nucleotide variant	NM_001142966.3(GREB1L):c.4887T>G (p.Val1629=)	not provided [RCV003696967]	likely benign	18	21513972	21513972	Human		name
405252501	CV3047322	single nucleotide variant	NM_001142966.3(GREB1L):c.962T>A (p.Ile321Asn)	not provided [RCV003722246]	uncertain significance	18	21440281	21440281	Human		name
405182283	CV3057625	single nucleotide variant	NM_001142966.3(GREB1L):c.3954G>A (p.Leu1318=)	not provided [RCV003728904]	likely benign	18	21500291	21500291	Human		name
405152764	CV3060226	single nucleotide variant	NM_001142966.3(GREB1L):c.3342C>T (p.Ile1114=)	not provided [RCV003726513]	likely benign	18	21496649	21496649	Human		name
405180748	CV3060470	single nucleotide variant	NM_001142966.3(GREB1L):c.455A>G (p.Asn152Ser)	not provided [RCV003728646]	uncertain significance	18	21395484	21395484	Human		name
405241187	CV3060930	single nucleotide variant	NM_001142966.3(GREB1L):c.4494C>T (p.His1498=)	not provided [RCV003737217]	likely benign	18	21508243	21508243	Human		name
405159498	CV3061742	single nucleotide variant	NM_001142966.3(GREB1L):c.3868T>C (p.Leu1290=)	not provided [RCV003726994]	likely benign	18	21500205	21500205	Human		name
405095751	CV3135022	single nucleotide variant	NM_001142966.3(GREB1L):c.3336G>C (p.Leu1112=)	not provided [RCV003835174]	likely benign	18	21496643	21496643	Human		name
405197700	CV3146776	single nucleotide variant	NM_001142966.3(GREB1L):c.3777C>T (p.His1259=)	not provided [RCV003844131]	likely benign	18	21500114	21500114	Human		name
405079870	CV3166737	single nucleotide variant	NM_001142966.3(GREB1L):c.3033T>C (p.Ser1011=)	not provided [RCV003851511]	likely benign	18	21495672	21495672	Human		name
405259081	CV3194450	single nucleotide variant	NM_001142966.3(GREB1L):c.3219G>C (p.Val1073=)	GREB1L-related disorder [RCV003893847]	likely benign	18	21496526	21496526	Human		name , trait , alternate_id
405259094	CV3194455	single nucleotide variant	NM_001142966.3(GREB1L):c.3840G>A (p.Glu1280=)	GREB1L-related disorder [RCV003893852]	likely benign	18	21500177	21500177	Human		name , trait , alternate_id
405656647	CV3227927	single nucleotide variant	NM_001142966.3(GREB1L):c.683C>T (p.Ser228Phe)	Hearing loss, autosomal dominant 80 [RCV003994669]	uncertain significance	18	21401300	21401300	Human	1	name
408383159	CV3504856	single nucleotide variant	NM_001142966.3(GREB1L):c.503C>T (p.Pro168Leu)	GREB1L-related disorder [RCV004730460]	uncertain significance	18	21395532	21395532	Human		name , trait , alternate_id
408376902	CV3517209	single nucleotide variant	NM_001142966.3(GREB1L):c.4710C>T (p.Pro1570=)	GREB1L-related disorder [RCV004750088]	likely benign	18	21508566	21508566	Human		name , trait , alternate_id
596920641	CV3534091	single nucleotide variant	NM_001142966.3(GREB1L):c.770C>T (p.Ser257Leu)	not specified [RCV004783309]	uncertain significance	18	21403932	21403932	Human		name
596920743	CV3534219	single nucleotide variant	NM_001142966.3(GREB1L):c.889C>G (p.Pro297Ala)	not specified [RCV004783438]	uncertain significance	18	21439577	21439577	Human		name
597901321	CV3741343	single nucleotide variant	NM_001142966.3(GREB1L):c.5724C>T (p.Asn1908=)	not provided [RCV005072314]	likely benign	18	21522773	21522773	Human		name
597830573	CV3743110	single nucleotide variant	NM_001142966.3(GREB1L):c.3939C>T (p.Pro1313=)	not provided [RCV005062118]	likely benign	18	21500276	21500276	Human		name
597858879	CV3748315	single nucleotide variant	NM_001142966.3(GREB1L):c.307A>G (p.Ile103Val)	not provided [RCV005067137]	uncertain significance	18	21384355	21384355	Human		name
597857932	CV3769561	single nucleotide variant	NM_001142966.3(GREB1L):c.4461G>A (p.Glu1487=)	not provided [RCV005105603]	likely benign	18	21508210	21508210	Human		name
597933365	CV3793383	single nucleotide variant	NM_001142966.3(GREB1L):c.3834T>C (p.Ser1278=)	not provided [RCV005132039]	likely benign	18	21500171	21500171	Human		name
597866552	CV3802852	single nucleotide variant	NM_001142966.3(GREB1L):c.748A>G (p.Ile250Val)	not provided [RCV005147639]	uncertain significance	18	21403910	21403910	Human		name
597881046	CV3826467	single nucleotide variant	NM_001142966.3(GREB1L):c.907T>A (p.Tyr303Asn)	not provided [RCV005178164]	uncertain significance	18	21439595	21439595	Human		name
597960951	CV3840366	single nucleotide variant	NM_001142966.3(GREB1L):c.395T>G (p.Leu132Arg)	not provided [RCV005192850]	uncertain significance	18	21395424	21395424	Human		name
597959038	CV3848587	single nucleotide variant	NM_001142966.3(GREB1L):c.4783T>C (p.Leu1595=)	not provided [RCV005192288]	likely benign	18	21513868	21513868	Human		name
597872821	CV3849564	single nucleotide variant	NM_001142966.3(GREB1L):c.3987C>T (p.Ser1329=)	not provided [RCV005197745]	likely benign	18	21500557	21500557	Human		name
597861192	CV3880804	deletion	NM_001142966.3(GREB1L):c.1873del (p.Glu625fs)	GREB1L-related disorder [RCV005229639]	likely pathogenic	18	21452105	21452105	Human		name , trait , alternate_id
598128475	CV3887679	single nucleotide variant	NM_001142966.3(GREB1L):c.4881C>T (p.His1627=)	not provided [RCV005243853]	likely benign	18	21513966	21513966	Human		name
616933440	CV4011503	single nucleotide variant	NM_001142966.3(GREB1L):c.3324C>T (p.Asp1108=)	not specified [RCV005407584]	likely benign	18	21496631	21496631	Human		name
616939321	CV4015652	single nucleotide variant	NM_001142966.3(GREB1L):c.404A>G (p.Glu135Gly)	not provided [RCV005413164]	uncertain significance	18	21395433	21395433	Human		name
616938828	CV4015846	duplication	NM_001142966.3(GREB1L):c.2640dup (p.Leu881fs)	Renal hypodysplasia/aplasia 3 [RCV005414398]	likely pathogenic	18	21485701	21485702	Human	1	name
617150719	CV4018812	single nucleotide variant	NM_001142966.3(GREB1L):c.620C>G (p.Thr207Ser)	not provided [RCV005423220]	uncertain significance	18	21401237	21401237	Human		name
617150558	CV4018940	single nucleotide variant	NM_001142966.3(GREB1L):c.988C>G (p.Arg330Gly)	not provided [RCV005423348]	uncertain significance	18	21440307	21440307	Human		name
617154006	CV4022169	single nucleotide variant	NM_001142966.3(GREB1L):c.653A>C (p.Tyr218Ser)	not provided [RCV005429525]	uncertain significance	18	21401270	21401270	Human		name
13786127	CV440044	single nucleotide variant	NM_001142966.3(GREB1L):c.982C>T (p.Arg328Ter)	Hearing loss, autosomal dominant 80 [RCV001374396]\|Inner ear malformation [RCV000677230]	pathogenic	18	21440301	21440301	Human	2	name
13475864	CV446874	deletion	NM_001142966.3(GREB1L):c.1582del (p.Gln528fs)	Renal hypodysplasia/aplasia 3 [RCV000548919]	pathogenic	18	21449696	21449696	Human	1	name
13464454	CV446879	single nucleotide variant	NM_001142966.3(GREB1L):c.983G>A (p.Arg328Gln)	Renal hypodysplasia/aplasia 3 [RCV000542205]\|not provided [RCV005051791]	pathogenic\|uncertain significance	18	21440302	21440302	Human	1	name
14350030	CV590902	single nucleotide variant	NM_001142966.3(GREB1L):c.988C>T (p.Arg330Trp)	Short stature [RCV000736150]\|not provided [RCV001772022]	likely pathogenic\|uncertain significance	18	21440307	21440307	Human	2	name
14746892	CV672284	single nucleotide variant	NM_001142966.3(GREB1L):c.383G>A (p.Arg128His)	Renal agenesis and hypodysplasia [RCV000845160]	association	18	21395412	21395412	Human		name
14746896	CV672285	single nucleotide variant	NM_001142966.3(GREB1L):c.818G>T (p.Gly273Val)	Renal agenesis and hypodysplasia [RCV000845164]	association	18	21403980	21403980	Human		name
15113731	CV715898	single nucleotide variant	NM_001142966.3(GREB1L):c.3528C>G (p.Ala1176=)	not provided [RCV000961543]	benign	18	21499865	21499865	Human		name
15132530	CV772041	single nucleotide variant	NM_001142966.3(GREB1L):c.5133T>C (p.Tyr1711=)	not provided [RCV000942416]	likely benign	18	21516616	21516616	Human		name
26905464	CV818742	single nucleotide variant	NM_001142966.3(GREB1L):c.848A>G (p.Asn283Ser)	Hearing loss, autosomal dominant 80 [RCV001374397]\|Profound hearing impairment [RCV001030796]	pathogenic\|likely pathogenic	18	21439536	21439536	Human	2	name
40814165	CV906223	deletion	NM_001142966.3(GREB1L):c.2227del (p.Gln743fs)	Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257332]	pathogenic	18	21473075	21473075	Human	1	name
40814178	CV906226	single nucleotide variant	NM_001142966.3(GREB1L):c.3492G>T (p.Gly1164=)	Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257339]	uncertain significance	18	21499829	21499829	Human	1	name
34888490	CV917751	single nucleotide variant	NM_001142966.3(GREB1L):c.347C>T (p.Thr116Ile)	Autosomal dominant nonsyndromic hearing loss [RCV001194620]\|Hearing loss, autosomal dominant 80 [RCV001374398]	pathogenic\|uncertain significance	18	21384395	21384395	Human	2	name
126737373	CV1001047	single nucleotide variant	NM_001142966.3(GREB1L):c.1735C>T (p.Arg579Ter)	not provided [RCV001311898]	pathogenic	18	21451037	21451037	Human		name
126912768	CV1038648	single nucleotide variant	NM_001142966.3(GREB1L):c.1702T>C (p.Phe568Leu)	not provided [RCV001356782]	uncertain significance	18	21449818	21449818	Human		name
126912200	CV1038649	single nucleotide variant	NM_001142966.3(GREB1L):c.2401C>T (p.His801Tyr)	not provided [RCV001356251]	uncertain significance	18	21477201	21477201	Human		name
127286081	CV1161760	deletion	NM_001142966.3(GREB1L):c.3977del (p.Lys1326fs)	Renal hypodysplasia/aplasia 3 [RCV001526471]	pathogenic	18	21500545	21500545	Human	1	name
127286082	CV1161761	deletion	NM_001142966.3(GREB1L):c.3983del (p.Gly1328fs)	Renal hypodysplasia/aplasia 3 [RCV001526472]	pathogenic	18	21500551	21500551	Human	1	name
127286178	CV1161852	single nucleotide variant	NM_001142966.3(GREB1L):c.2252G>A (p.Arg751His)	GREB1L-related disorder [RCV004749709]\|Renal cortical hyperechogenicity [RCV001526584]\|Renal hypodysplasia/aplasia 3 [RCV003154040]\|not provided [RCV004720925]	likely pathogenic\|uncertain significance	18	21473100	21473100	Human	2	name , trait , alternate_id
151347889	CV1319022	single nucleotide variant	NM_001142966.3(GREB1L):c.2441T>C (p.Leu814Pro)	Renal agenesis [RCV001807661]	uncertain significance	18	21477241	21477241	Human	2	name
151347948	CV1324348	single nucleotide variant	NM_001142966.3(GREB1L):c.2594T>A (p.Leu865Ter)	Hearing loss, autosomal dominant 80 [RCV001808265]	likely pathogenic	18	21485657	21485657	Human	1	name
151776730	CV1380960	single nucleotide variant	NM_001142966.3(GREB1L):c.1124C>G (p.Pro375Arg)	not provided [RCV002045761]	uncertain significance	18	21441454	21441454	Human		name
152119002	CV1589078	single nucleotide variant	NM_001142966.3(GREB1L):c.1330G>A (p.Gly444Ser)	GREB1L-related disorder [RCV003933327]\|not provided [RCV002216526]	benign	18	21444346	21444346	Human	1	name , trait , alternate_id
155798126	CV1863455	single nucleotide variant	NM_001142966.3(GREB1L):c.1426G>A (p.Glu476Lys)	Hearing loss, autosomal dominant 80 [RCV002471249]	uncertain significance	18	21449542	21449542	Human	1	name
156405546	CV1919387	single nucleotide variant	NM_001142966.3(GREB1L):c.1990G>A (p.Asp664Asn)	not provided [RCV002585672]	benign	18	21454371	21454371	Human		name
156437558	CV1947646	single nucleotide variant	NM_001142966.3(GREB1L):c.1654C>T (p.Pro552Ser)	not provided [RCV003107097]	uncertain significance	18	21449770	21449770	Human		name
156087938	CV1989592	single nucleotide variant	NM_001142966.3(GREB1L):c.2774T>C (p.Met925Thr)	not provided [RCV002639117]	uncertain significance	18	21490095	21490095	Human		name
155938816	CV2041518	single nucleotide variant	NM_001142966.3(GREB1L):c.1265T>C (p.Leu422Pro)	not provided [RCV002775057]	uncertain significance	18	21444281	21444281	Human		name
156174752	CV2051909	single nucleotide variant	NM_001142966.3(GREB1L):c.1322G>C (p.Gly441Ala)	not provided [RCV002828105]	uncertain significance	18	21444338	21444338	Human		name
156199287	CV2092418	single nucleotide variant	NM_001142966.3(GREB1L):c.2777C>T (p.Ala926Val)	not provided [RCV002917728]	benign	18	21490098	21490098	Human		name
156231489	CV2093831	single nucleotide variant	NM_001142966.3(GREB1L):c.2167C>T (p.Arg723Trp)	GREB1L-related disorder [RCV003961149]\|Renal hypodysplasia/aplasia 3 [RCV003340544]\|not provided [RCV002894568]	benign\|likely benign\|uncertain significance	18	21454548	21454548	Human	1	name , trait , alternate_id
156214379	CV2114699	single nucleotide variant	NM_001142966.3(GREB1L):c.2240A>G (p.Lys747Arg)	GREB1L-related disorder [RCV003963419]\|not provided [RCV002932198]	benign	18	21473088	21473088	Human	1	name , trait , alternate_id
156386982	CV2122060	single nucleotide variant	NM_001142966.3(GREB1L):c.1388G>A (p.Arg463Gln)	GREB1L-related disorder [RCV003926592]\|not provided [RCV002943556]	benign\|likely benign	18	21444404	21444404	Human	1	name , trait , alternate_id
156214774	CV2142249	single nucleotide variant	NM_001142966.3(GREB1L):c.1628G>A (p.Ser543Asn)	not provided [RCV002985741]	uncertain significance	18	21449744	21449744	Human		name
156111942	CV2171735	duplication	NM_001142966.3(GREB1L):c.3574dup (p.Gln1192fs)	not provided [RCV003038981]	pathogenic	18	21499906	21499907	Human		name
156276533	CV2185951	single nucleotide variant	NM_001142966.3(GREB1L):c.1570G>A (p.Val524Met)	not provided [RCV003044636]	uncertain significance	18	21449686	21449686	Human		name
156205334	CV2401484	duplication	NM_001142966.3(GREB1L):c.5614dup (p.Thr1872fs)	Renal hypodysplasia/aplasia 3 [RCV002790022]	uncertain significance	18	21522662	21522663	Human	1	name
243059873	CV2412778	single nucleotide variant	NM_001142966.3(GREB1L):c.2938G>A (p.Asp980Asn)	not provided [RCV003135450]	uncertain significance	18	21490259	21490259	Human		name
243064687	CV2414951	single nucleotide variant	NM_001142966.3(GREB1L):c.1729C>T (p.Gln577Ter)	not provided [RCV003143384]	likely pathogenic	18	21451031	21451031	Human		name
243059241	CV2418210	single nucleotide variant	NM_001142966.3(GREB1L):c.2947G>A (p.Gly983Ser)	Scoliosis, isolated, susceptibility to, 1 [RCV003153276]	uncertain significance	18	21490268	21490268	Human	1	name
243059222	CV2418211	single nucleotide variant	NM_001142966.3(GREB1L):c.2321T>A (p.Leu774Gln)	Scoliosis, isolated, susceptibility to, 1 [RCV003153277]	uncertain significance	18	21473169	21473169	Human	1	name
243059227	CV2418216	single nucleotide variant	NM_001142966.3(GREB1L):c.1558G>A (p.Asp520Asn)	Mayer-Rokitansky-Küster-Hauser syndrome type 2 [RCV003153282]	uncertain significance	18	21449674	21449674	Human	1	name
243059228	CV2418217	single nucleotide variant	NM_001142966.3(GREB1L):c.2722T>C (p.Cys908Arg)	Mayer Rokitansky Kuster Hauser syndrome type 1 [RCV003153283]	uncertain significance	18	21490043	21490043	Human	1	name
401859327	CV2794274	single nucleotide variant	NM_001142966.3(GREB1L):c.1975C>T (p.Gln659Ter)	Renal hypodysplasia/aplasia 3 [RCV003384291]	pathogenic	18	21452208	21452208	Human	1	name
401913016	CV2796011	single nucleotide variant	NM_001142966.3(GREB1L):c.1348G>A (p.Val450Met)	GREB1L-related disorder [RCV003427756]	uncertain significance	18	21444364	21444364	Human		name , trait , alternate_id
401933854	CV2797843	single nucleotide variant	NM_001142966.3(GREB1L):c.2992G>A (p.Glu998Lys)	GREB1L-related disorder [RCV003410733]	uncertain significance	18	21490313	21490313	Human		name , trait , alternate_id
401934046	CV2802689	single nucleotide variant	NM_001142966.3(GREB1L):c.1505T>C (p.Val502Ala)	GREB1L-related disorder [RCV003410905]	uncertain significance	18	21449621	21449621	Human		name , trait , alternate_id
401933410	CV2804082	single nucleotide variant	NM_001142966.3(GREB1L):c.2065G>A (p.Ala689Thr)	GREB1L-related disorder [RCV003392833]	uncertain significance	18	21454446	21454446	Human		name , trait , alternate_id
401913646	CV2804209	single nucleotide variant	NM_001142966.3(GREB1L):c.1901G>C (p.Ser634Thr)	GREB1L-related disorder [RCV003427913]\|not provided [RCV003427912]	uncertain significance	18	21452134	21452134	Human	1	name , trait , alternate_id
401921257	CV2804492	single nucleotide variant	NM_001142966.3(GREB1L):c.2945T>C (p.Leu982Pro)	GREB1L-related disorder [RCV003402895]	uncertain significance	18	21490266	21490266	Human		name , trait , alternate_id
405201606	CV2861341	single nucleotide variant	NM_001142966.3(GREB1L):c.2519C>G (p.Ser840Cys)	not provided [RCV003551441]	uncertain significance	18	21477319	21477319	Human		name
405239984	CV2882748	single nucleotide variant	NM_001142966.3(GREB1L):c.1474G>C (p.Ala492Pro)	not provided [RCV003557199]	uncertain significance	18	21449590	21449590	Human		name
405070514	CV2936939	single nucleotide variant	NM_001142966.3(GREB1L):c.1283A>G (p.Lys428Arg)	not provided [RCV003659323]	uncertain significance	18	21444299	21444299	Human		name
405129500	CV2962245	single nucleotide variant	NM_001142966.3(GREB1L):c.1810G>A (p.Val604Ile)	not provided [RCV003668252]	uncertain significance	18	21451112	21451112	Human		name
405189660	CV2987895	single nucleotide variant	NM_001142966.3(GREB1L):c.1103C>G (p.Pro368Arg)	not provided [RCV003706350]	uncertain significance	18	21441433	21441433	Human		name
405061835	CV3030035	deletion	NM_001142966.3(GREB1L):c.5397del (p.Lys1799fs)	not provided [RCV003697693]	uncertain significance	18	21518157	21518157	Human		name
402482299	CV3036507	single nucleotide variant	NM_001142966.3(GREB1L):c.2855G>A (p.Ser952Asn)	not provided [RCV003712975]	uncertain significance	18	21490176	21490176	Human		name
405220381	CV3059877	single nucleotide variant	NM_001142966.3(GREB1L):c.1370C>T (p.Thr457Met)	not provided [RCV003733218]	likely benign	18	21444386	21444386	Human		name
405144043	CV3126124	single nucleotide variant	NM_001142966.3(GREB1L):c.2746T>G (p.Ser916Ala)	not provided [RCV003817040]	uncertain significance	18	21490067	21490067	Human		name
405197022	CV3138776	single nucleotide variant	NM_001142966.3(GREB1L):c.1549G>A (p.Val517Ile)	not provided [RCV003821592]	uncertain significance	18	21449665	21449665	Human		name
405282683	CV3191134	single nucleotide variant	NM_001142966.3(GREB1L):c.2383T>C (p.Ser795Pro)	GREB1L-related disorder [RCV003921546]	likely benign	18	21477183	21477183	Human		name , trait , alternate_id
405288606	CV3193713	single nucleotide variant	NM_001142966.3(GREB1L):c.1171C>G (p.Leu391Val)	GREB1L-related disorder [RCV003982719]	uncertain significance	18	21441501	21441501	Human		name , trait , alternate_id
405289093	CV3204974	single nucleotide variant	NM_001142966.3(GREB1L):c.1278C>G (p.Cys426Trp)	GREB1L-related disorder [RCV003961606]\|not provided [RCV005102931]	likely benign\|uncertain significance	18	21444294	21444294	Human	1	name , trait , alternate_id
405853967	CV3395371	single nucleotide variant	NM_001142966.3(GREB1L):c.2125A>G (p.Ile709Val)	Renal hypodysplasia/aplasia 3 [RCV004555508]	uncertain significance	18	21454506	21454506	Human	1	name
407429357	CV3413768	single nucleotide variant	NM_001142966.3(GREB1L):c.1708G>A (p.Val570Met)	Hearing loss, autosomal dominant 80 [RCV004595177]	uncertain significance	18	21449824	21449824	Human	1	name
407469897	CV3415418	deletion	NM_001142966.3(GREB1L):c.3907del (p.Asp1303fs)	Renal hypodysplasia/aplasia 3 [RCV004598377]	likely pathogenic	18	21500243	21500243	Human	1	name
407490920	CV3416868	single nucleotide variant	NM_001142966.3(GREB1L):c.1394G>A (p.Gly465Asp)	Renal hypodysplasia/aplasia 3 [RCV004666696]	uncertain significance	18	21449510	21449510	Human	1	name
408384331	CV3505089	duplication	NM_001142966.3(GREB1L):c.3488dup (p.Leu1163fs)	GREB1L-related disorder [RCV004731721]	likely pathogenic	18	21499823	21499824	Human		name , trait , alternate_id
408375573	CV3510206	single nucleotide variant	NM_001142966.3(GREB1L):c.1220T>C (p.Leu407Ser)	GREB1L-related disorder [RCV004748184]	uncertain significance	18	21444236	21444236	Human		name , trait , alternate_id
408388460	CV3527506	single nucleotide variant	NM_001142966.3(GREB1L):c.1124C>T (p.Pro375Leu)	not provided [RCV004773810]	uncertain significance	18	21441454	21441454	Human		name
596927040	CV3536445	single nucleotide variant	NM_001142966.3(GREB1L):c.2360C>T (p.Thr787Met)	Renal hypodysplasia/aplasia 3 [RCV004789853]	uncertain significance	18	21473208	21473208	Human	1	name
596926011	CV3539716	single nucleotide variant	NM_001142966.3(GREB1L):c.1838C>G (p.Thr613Ser)	not provided [RCV004790707]\|not specified [RCV005407350]	uncertain significance	18	21451140	21451140	Human		name
596928766	CV3540550	single nucleotide variant	NM_001142966.3(GREB1L):c.1363C>T (p.Leu455Phe)	not provided [RCV004794877]	uncertain significance	18	21444379	21444379	Human		name
596925029	CV3541789	single nucleotide variant	NM_001142966.3(GREB1L):c.2621G>A (p.Trp874Ter)	Renal hypodysplasia/aplasia 3 [RCV004795500]	likely pathogenic	18	21485684	21485684	Human	1	name
596946476	CV3548297	single nucleotide variant	NM_001142966.3(GREB1L):c.2768C>T (p.Thr923Ile)	not provided [RCV004810122]	uncertain significance	18	21490089	21490089	Human		name
597721590	CV3733767	single nucleotide variant	NM_001142966.3(GREB1L):c.1144G>T (p.Glu382Ter)	Hearing loss, autosomal dominant 80 [RCV005053072]	pathogenic	18	21441474	21441474	Human	1	name
597905861	CV3738679	single nucleotide variant	NM_001142966.3(GREB1L):c.1055C>G (p.Pro352Arg)	not provided [RCV005072913]	uncertain significance	18	21440374	21440374	Human		name
597903853	CV3741602	single nucleotide variant	NM_001142966.3(GREB1L):c.2488A>G (p.Thr830Ala)	not provided [RCV005072573]	uncertain significance	18	21477288	21477288	Human		name
597859590	CV3744662	single nucleotide variant	NM_001142966.3(GREB1L):c.2018C>T (p.Pro673Leu)	not provided [RCV005067207]	uncertain significance	18	21454399	21454399	Human		name
597839509	CV3758341	single nucleotide variant	NM_001142966.3(GREB1L):c.2168G>T (p.Arg723Leu)	not provided [RCV005086176]	uncertain significance	18	21454549	21454549	Human		name
597891535	CV3763015	single nucleotide variant	NM_001142966.3(GREB1L):c.1241T>C (p.Val414Ala)	not provided [RCV005110788]	uncertain significance	18	21444257	21444257	Human		name
597875072	CV3775577	deletion	NM_001142966.3(GREB1L):c.4509del (p.Leu1504fs)	not provided [RCV005123307]	pathogenic	18	21508257	21508257	Human		name
597969301	CV3791305	single nucleotide variant	NM_001142966.3(GREB1L):c.2365G>A (p.Val789Ile)	not provided [RCV005141337]	uncertain significance	18	21477165	21477165	Human		name
597953383	CV3808838	single nucleotide variant	NM_001142966.3(GREB1L):c.1663G>C (p.Val555Leu)	not provided [RCV005161756]	uncertain significance	18	21449779	21449779	Human		name
597837863	CV3828876	single nucleotide variant	NM_001142966.3(GREB1L):c.1474G>T (p.Ala492Ser)	not provided [RCV005171569]	uncertain significance	18	21449590	21449590	Human		name
597872498	CV3849509	single nucleotide variant	NM_001142966.3(GREB1L):c.1437G>A (p.Met479Ile)	not provided [RCV005197690]	uncertain significance	18	21449553	21449553	Human		name
597876858	CV3860183	deletion	NM_001142966.3(GREB1L):c.5220del (p.Lys1740fs)	not provided [RCV005198392]	pathogenic	18	21516701	21516701	Human		name
598224089	CV3892058	single nucleotide variant	NM_001142966.3(GREB1L):c.2117T>A (p.Phe706Tyr)	Renal hypodysplasia/aplasia 3 [RCV005253397]	uncertain significance	18	21454498	21454498	Human	1	name
598233901	CV3893642	single nucleotide variant	NM_001142966.3(GREB1L):c.1730A>G (p.Gln577Arg)	not provided [RCV005256375]	uncertain significance	18	21451032	21451032	Human		name
598227238	CV3894481	single nucleotide variant	NM_001142966.3(GREB1L):c.2832C>G (p.Ile944Met)	not provided [RCV005257724]	uncertain significance	18	21490153	21490153	Human		name
598159307	CV3897063	deletion	NM_001142966.3(GREB1L):c.5558del (p.Leu1853fs)	not provided [RCV005368037]	uncertain significance	18	21520773	21520773	Human		name
616935462	CV4009537	single nucleotide variant	NM_001142966.3(GREB1L):c.2720G>A (p.Arg907His)	not provided [RCV005402709]	uncertain significance	18	21490041	21490041	Human		name
616937238	CV4010412	single nucleotide variant	NM_001142966.3(GREB1L):c.2173C>T (p.Arg725Ter)	Renal hypodysplasia/aplasia 3 [RCV005406182]	pathogenic	18	21454554	21454554	Human	1	name
616938827	CV4015847	duplication	NM_001142966.3(GREB1L):c.3673dup (p.Gln1225fs)	Renal hypodysplasia/aplasia 3 [RCV005414399]	likely pathogenic	18	21500009	21500010	Human	1	name
13477123	CV446869	duplication	NM_001142966.3(GREB1L):c.4000dup (p.Leu1334fs)	Renal hypodysplasia/aplasia 3 [RCV000526997]	pathogenic	18	21500568	21500569	Human	1	name
13501514	CV446876	single nucleotide variant	NM_001142966.3(GREB1L):c.1780G>T (p.Glu594Ter)	Renal hypodysplasia/aplasia 3 [RCV000541288]	pathogenic	18	21451082	21451082	Human	1	name
13498668	CV446878	single nucleotide variant	NM_001142966.3(GREB1L):c.2251C>T (p.Arg751Cys)	Renal hypodysplasia/aplasia 3 [RCV000529777]\|not provided [RCV004777700]	pathogenic\|uncertain significance	18	21473099	21473099	Human	1	name
14746897	CV672286	single nucleotide variant	NM_001142966.3(GREB1L):c.1490C>G (p.Ala497Gly)	Renal agenesis and hypodysplasia [RCV000845165]	association	18	21449606	21449606	Human		name
14746893	CV672287	single nucleotide variant	NM_001142966.3(GREB1L):c.2281G>C (p.Glu761Gln)	Renal agenesis and hypodysplasia [RCV000845161]	association	18	21473129	21473129	Human		name
15136127	CV715897	single nucleotide variant	NM_001142966.3(GREB1L):c.2891C>T (p.Ser964Leu)	not provided [RCV000965401]	benign	18	21490212	21490212	Human		name
15115432	CV756387	single nucleotide variant	NM_001142966.3(GREB1L):c.2377T>C (p.Ser793Pro)	not provided [RCV000917453]	likely benign	18	21477177	21477177	Human		name
40814173	CV906221	single nucleotide variant	NM_001142966.3(GREB1L):c.1852G>A (p.Asp618Asn)	Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257336]	uncertain significance	18	21452085	21452085	Human	1	name
40814176	CV906222	single nucleotide variant	NM_001142966.3(GREB1L):c.1936T>C (p.Cys646Arg)	Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257338]	uncertain significance	18	21452169	21452169	Human	1	name
40814171	CV906224	single nucleotide variant	NM_001142966.3(GREB1L):c.2312C>T (p.Pro771Leu)	Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257335]	uncertain significance	18	21473160	21473160	Human	1	name
126739248	CV1021734	single nucleotide variant	NM_001142966.3(GREB1L):c.3364A>T (p.Asn1122Tyr)	Renal hypodysplasia/aplasia 3 [RCV001335709]	uncertain significance	18	21496671	21496671	Human	1	name
126739252	CV1021735	single nucleotide variant	NM_001142966.3(GREB1L):c.5650C>T (p.Arg1884Cys)	Mayer Rokitansky Kuster Hauser syndrome type 1 [RCV003153247]\|Renal hypodysplasia/aplasia 3 [RCV001335710]	uncertain significance	18	21522699	21522699	Human	2	name
126913611	CV1038650	single nucleotide variant	NM_001142966.3(GREB1L):c.4312A>G (p.Thr1438Ala)	not provided [RCV001357536]	uncertain significance	18	21505893	21505893	Human		name
151347891	CV1319024	single nucleotide variant	NM_001142966.3(GREB1L):c.3170G>C (p.Arg1057Pro)	Renal agenesis [RCV001807663]	uncertain significance	18	21496477	21496477	Human	2	name
151347945	CV1324151	single nucleotide variant	NM_001142966.3(GREB1L):c.4576C>T (p.Arg1526Ter)	Hearing loss, autosomal dominant 80 [RCV001808066]\|Mayer Rokitansky Kuster Hauser syndrome type 1 [RCV003153249]\|not provided [RCV005255688]	pathogenic\|likely pathogenic	18	21508432	21508432	Human	2	name
151350009	CV1324560	single nucleotide variant	NM_001142966.3(GREB1L):c.3197G>A (p.Arg1066His)	Renal hypodysplasia/aplasia 3 [RCV001809005]	uncertain significance	18	21496504	21496504	Human	1	name
151732600	CV1336391	single nucleotide variant	NM_001142966.3(GREB1L):c.4276G>A (p.Val1426Ile)	Congenital anomaly of kidney and urinary tract [RCV001849619]	likely pathogenic	18	21505857	21505857	Human	1	name
151814677	CV1459768	single nucleotide variant	NM_001142966.3(GREB1L):c.3926G>A (p.Arg1309Gln)	not provided [RCV002012785]	uncertain significance	18	21500263	21500263	Human		name
151807554	CV1474643	single nucleotide variant	NM_001142966.3(GREB1L):c.5707G>A (p.Glu1903Lys)	GREB1L-related disorder [RCV005225542]\|not provided [RCV001932880]	benign\|uncertain significance	18	21522756	21522756	Human	1	name , trait , alternate_id
152118965	CV1522486	single nucleotide variant	NM_001142966.3(GREB1L):c.3875G>A (p.Arg1292Gln)	GREB1L-related disorder [RCV003950999]\|not provided [RCV002081287]	benign	18	21500212	21500212	Human	1	name , trait , alternate_id
152088274	CV1655614	single nucleotide variant	NM_001142966.3(GREB1L):c.3668G>T (p.Gly1223Val)	not provided [RCV002193944]	likely benign	18	21500005	21500005	Human		name
152041570	CV1669886	single nucleotide variant	NM_001142966.3(GREB1L):c.3805C>T (p.Arg1269Trp)	not provided [RCV002224788]	uncertain significance	18	21500142	21500142	Human		name
152981204	CV1676692	single nucleotide variant	NM_001142966.3(GREB1L):c.4992T>A (p.Tyr1664Ter)	Mayer-Rokitansky-Küster-Hauser syndrome type 2 [RCV002247756]	pathogenic	18	21515507	21515507	Human	1	name
155268368	CV1701771	single nucleotide variant	NM_001142966.3(GREB1L):c.4507C>T (p.Arg1503Trp)	Renal hypodysplasia/aplasia 3 [RCV002284002]	uncertain significance	18	21508256	21508256	Human	1	name
155645727	CV1709081	single nucleotide variant	NM_001142966.3(GREB1L):c.3200C>G (p.Thr1067Arg)	not provided [RCV002291957]	uncertain significance	18	21496507	21496507	Human		name
155645339	CV1710801	single nucleotide variant	NM_001142966.3(GREB1L):c.5246A>T (p.Asp1749Val)	Renal hypodysplasia/aplasia 3 [RCV002294582]	uncertain significance	18	21516729	21516729	Human	1	name
156360430	CV1908486	single nucleotide variant	NM_001142966.3(GREB1L):c.3047A>C (p.Glu1016Ala)	not provided [RCV002602456]	uncertain significance	18	21495686	21495686	Human		name
156449840	CV1942113	single nucleotide variant	NM_001142966.3(GREB1L):c.4268G>A (p.Arg1423Gln)	not provided [RCV003121968]	uncertain significance	18	21505849	21505849	Human		name
156419604	CV1977652	single nucleotide variant	NM_001142966.3(GREB1L):c.3721C>G (p.Leu1241Val)	not provided [RCV002612843]	uncertain significance	18	21500058	21500058	Human		name
156235219	CV2021584	single nucleotide variant	NM_001142966.3(GREB1L):c.5566T>C (p.Ser1856Pro)	not provided [RCV002745462]	uncertain significance	18	21520781	21520781	Human		name
155912406	CV2069667	single nucleotide variant	NM_001142966.3(GREB1L):c.5501C>A (p.Pro1834His)	not provided [RCV002837814]	uncertain significance	18	21520716	21520716	Human		name
155931713	CV2096104	single nucleotide variant	NM_001142966.3(GREB1L):c.3328G>A (p.Asp1110Asn)	GREB1L-related disorder [RCV003936352]\|not provided [RCV002903865]	benign\|likely benign	18	21496635	21496635	Human	1	name , trait , alternate_id
156208051	CV2103867	single nucleotide variant	NM_001142966.3(GREB1L):c.3920G>A (p.Gly1307Asp)	not provided [RCV002931943]	uncertain significance	18	21500257	21500257	Human		name
156215834	CV2110957	single nucleotide variant	NM_001142966.3(GREB1L):c.3911C>T (p.Pro1304Leu)	GREB1L-related disorder [RCV003961200]\|not provided [RCV002932256]	benign\|likely benign	18	21500248	21500248	Human	1	name , trait , alternate_id
156034354	CV2112641	single nucleotide variant	NM_001142966.3(GREB1L):c.3286G>A (p.Gly1096Arg)	GREB1L-related disorder [RCV003926541]\|not provided [RCV002910206]	likely benign	18	21496593	21496593	Human	1	name , trait , alternate_id
156260845	CV2132857	single nucleotide variant	NM_001142966.3(GREB1L):c.3481A>G (p.Thr1161Ala)	not provided [RCV003008918]	uncertain significance	18	21499818	21499818	Human		name
155911375	CV2141667	single nucleotide variant	NM_001142966.3(GREB1L):c.3259G>A (p.Gly1087Arg)	not provided [RCV002968075]	uncertain significance	18	21496566	21496566	Human		name
243059872	CV2412777	single nucleotide variant	NM_001142966.3(GREB1L):c.5060G>T (p.Arg1687Met)	not provided [RCV003135449]	uncertain significance	18	21515575	21515575	Human		name
243059217	CV2418206	single nucleotide variant	NM_001142966.3(GREB1L):c.5441C>A (p.Ala1814Asp)	Mayer-Rokitansky-Küster-Hauser syndrome type 2 [RCV003153272]	uncertain significance	18	21518203	21518203	Human	1	name
243059218	CV2418207	single nucleotide variant	NM_001142966.3(GREB1L):c.3085G>A (p.Asp1029Asn)	Mayer Rokitansky Kuster Hauser syndrome type 1 [RCV003153273]	uncertain significance	18	21495724	21495724	Human	1	name
243059219	CV2418208	single nucleotide variant	NM_001142966.3(GREB1L):c.3353G>A (p.Arg1118Gln)	Mayer Rokitansky Kuster Hauser syndrome type 1 [RCV003153274]	uncertain significance	18	21496660	21496660	Human	1	name
243059242	CV2418212	single nucleotide variant	NM_001142966.3(GREB1L):c.3167T>C (p.Leu1056Pro)	Mayer-Rokitansky-Küster-Hauser syndrome type 2 [RCV003153278]	uncertain significance	18	21496474	21496474	Human	1	name
243059225	CV2418214	single nucleotide variant	NM_001142966.3(GREB1L):c.3205T>A (p.Leu1069Met)	Mayer-Rokitansky-Küster-Hauser syndrome type 2 [RCV003153280]	uncertain significance	18	21496512	21496512	Human	1	name
243059229	CV2418218	single nucleotide variant	NM_001142966.3(GREB1L):c.3068G>A (p.Arg1023Gln)	Mayer Rokitansky Kuster Hauser syndrome type 1 [RCV003153284]	uncertain significance	18	21495707	21495707	Human	1	name
329952825	CV2670174	single nucleotide variant	NM_001142966.3(GREB1L):c.3511G>A (p.Ala1171Thr)	not provided [RCV003233384]	uncertain significance	18	21499848	21499848	Human		name
329951765	CV2671426	single nucleotide variant	NM_001142966.3(GREB1L):c.3704C>A (p.Ser1235Tyr)	Renal hypodysplasia/aplasia 3 [RCV003236636]	likely pathogenic	18	21500041	21500041	Human	1	name
401799280	CV2741867	single nucleotide variant	NM_001142966.3(GREB1L):c.3863G>A (p.Trp1288Ter)	Renal hypodysplasia/aplasia 3 [RCV003323267]	likely pathogenic	18	21500200	21500200	Human	1	name
401868016	CV2749181	single nucleotide variant	NM_001142966.3(GREB1L):c.4698G>T (p.Met1566Ile)	not specified [RCV003332007]	uncertain significance	18	21508554	21508554	Human		name
401857805	CV2750533	single nucleotide variant	NM_001142966.3(GREB1L):c.5280G>C (p.Glu1760Asp)	GREB1L-related disorder [RCV003936746]\|not provided [RCV003334206]	benign	18	21518042	21518042	Human	1	name , trait , alternate_id
401903055	CV2797800	single nucleotide variant	NM_001142966.3(GREB1L):c.3323A>G (p.Asp1108Gly)	GREB1L-related disorder [RCV003419240]\|not provided [RCV003549095]	uncertain significance	18	21496630	21496630	Human	1	name , trait , alternate_id
401901669	CV2797973	single nucleotide variant	NM_001142966.3(GREB1L):c.4188G>T (p.Met1396Ile)	GREB1L-related disorder [RCV003393101]	uncertain significance	18	21505527	21505527	Human		name , trait , alternate_id
401919376	CV2798267	single nucleotide variant	NM_001142966.3(GREB1L):c.5017A>G (p.Ser1673Gly)	GREB1L-related disorder [RCV003402289]	uncertain significance	18	21515532	21515532	Human		name , trait , alternate_id
401936470	CV2798549	single nucleotide variant	NM_001142966.3(GREB1L):c.3665G>A (p.Arg1222Gln)	GREB1L-related disorder [RCV003414482]\|not provided [RCV005104347]	uncertain significance	18	21500002	21500002	Human	1	name , trait , alternate_id
401926610	CV2798677	single nucleotide variant	NM_001142966.3(GREB1L):c.3931T>C (p.Phe1311Leu)	GREB1L-related disorder [RCV003405990]	uncertain significance	18	21500268	21500268	Human		name , trait , alternate_id
401902863	CV2799731	single nucleotide variant	NM_001142966.3(GREB1L):c.5030C>A (p.Thr1677Asn)	GREB1L-related disorder [RCV003419113]	uncertain significance	18	21515545	21515545	Human		name , trait , alternate_id
401933470	CV2802042	single nucleotide variant	NM_001142966.3(GREB1L):c.3353G>C (p.Arg1118Pro)	GREB1L-related disorder [RCV003392975]	uncertain significance	18	21496660	21496660	Human		name , trait , alternate_id
401906059	CV2802286	single nucleotide variant	NM_001142966.3(GREB1L):c.3798C>G (p.Ser1266Arg)	GREB1L-related disorder [RCV003420995]	uncertain significance	18	21500135	21500135	Human		name , trait , alternate_id
401923815	CV2803402	single nucleotide variant	NM_001142966.3(GREB1L):c.4871G>A (p.Trp1624Ter)	GREB1L-related disorder [RCV003404548]	likely pathogenic	18	21513956	21513956	Human		name , trait , alternate_id
401936391	CV2803424	single nucleotide variant	NM_001142966.3(GREB1L):c.3914C>T (p.Ala1305Val)	GREB1L-related disorder [RCV003414397]	uncertain significance	18	21500251	21500251	Human		name , trait , alternate_id
401902483	CV2804393	single nucleotide variant	NM_001142966.3(GREB1L):c.3781G>A (p.Asp1261Asn)	GREB1L-related disorder [RCV003418849]	uncertain significance	18	21500118	21500118	Human		name , trait , alternate_id
401940369	CV2839221	single nucleotide variant	NM_001142966.3(GREB1L):c.5362C>A (p.Leu1788Ile)	Hearing loss, autosomal dominant 80 [RCV003448779]	uncertain significance	18	21518124	21518124	Human	1	name
402488460	CV2856477	single nucleotide variant	NM_001142966.3(GREB1L):c.4864G>C (p.Val1622Leu)	not provided [RCV003572768]	uncertain significance	18	21513949	21513949	Human		name
405199749	CV2877056	single nucleotide variant	NM_001142966.3(GREB1L):c.3578T>C (p.Met1193Thr)	GREB1L-related disorder [RCV003954258]\|not provided [RCV003551268]	likely benign	18	21499915	21499915	Human	1	name , trait , alternate_id
405226682	CV2888780	single nucleotide variant	NM_001142966.3(GREB1L):c.4711G>A (p.Gly1571Ser)	not provided [RCV003554786]	likely benign	18	21508567	21508567	Human		name
405073092	CV2940524	single nucleotide variant	NM_001142966.3(GREB1L):c.3298G>A (p.Glu1100Lys)	not provided [RCV003659537]	uncertain significance	18	21496605	21496605	Human		name
405025361	CV2999803	single nucleotide variant	NM_001142966.3(GREB1L):c.4587C>G (p.His1529Gln)	not provided [RCV003695170]	uncertain significance	18	21508443	21508443	Human		name
405130694	CV3011045	single nucleotide variant	NM_001142966.3(GREB1L):c.4943T>G (p.Leu1648Trp)	not provided [RCV003701671]	uncertain significance	18	21515458	21515458	Human		name
405119376	CV3030658	single nucleotide variant	NM_001142966.3(GREB1L):c.4030C>A (p.Leu1344Ile)	not provided [RCV003700591]	uncertain significance	18	21500600	21500600	Human		name
405148243	CV3067493	single nucleotide variant	NM_001142966.3(GREB1L):c.3020C>T (p.Ala1007Val)	not provided [RCV003726224]	uncertain significance	18	21490341	21490341	Human		name
405178246	CV3123541	single nucleotide variant	NM_001142966.3(GREB1L):c.4840A>G (p.Ile1614Val)	not provided [RCV003819750]	uncertain significance	18	21513925	21513925	Human		name
405032688	CV3130334	single nucleotide variant	NM_001142966.3(GREB1L):c.5662G>A (p.Val1888Ile)	not provided [RCV003830741]	uncertain significance	18	21522711	21522711	Human		name
405121884	CV3131632	single nucleotide variant	NM_001142966.3(GREB1L):c.3088G>A (p.Gly1030Ser)	not provided [RCV003837496]	uncertain significance	18	21495727	21495727	Human		name
405060979	CV3148227	single nucleotide variant	NM_001142966.3(GREB1L):c.5633A>G (p.Gln1878Arg)	not provided [RCV003850183]	uncertain significance	18	21522682	21522682	Human		name
405243707	CV3161079	single nucleotide variant	NM_001142966.3(GREB1L):c.5212A>G (p.Met1738Val)	not provided [RCV003867988]	uncertain significance	18	21516695	21516695	Human		name
405002074	CV3184101	single nucleotide variant	NM_001142966.3(GREB1L):c.4391C>A (p.Ala1464Asp)	not provided [RCV003882684]	likely benign	18	21508140	21508140	Human		name
405869435	CV3396725	single nucleotide variant	NM_001142966.3(GREB1L):c.3944G>A (p.Arg1315Gln)	Renal hypodysplasia/aplasia 3 [RCV004566599]	uncertain significance	18	21500281	21500281	Human	1	name
405873527	CV3398606	single nucleotide variant	NM_001142966.3(GREB1L):c.3925C>T (p.Arg1309Ter)	not provided [RCV004576102]	likely pathogenic	18	21500262	21500262	Human		name
408383089	CV3504700	single nucleotide variant	NM_001142966.3(GREB1L):c.5073T>A (p.His1691Gln)	GREB1L-related disorder [RCV004730405]	uncertain significance	18	21515588	21515588	Human		name , trait , alternate_id
408385087	CV3505628	single nucleotide variant	NM_001142966.3(GREB1L):c.5071C>T (p.His1691Tyr)	GREB1L-related disorder [RCV004732378]	uncertain significance	18	21515586	21515586	Human		name , trait , alternate_id
408375870	CV3511131	single nucleotide variant	NM_001142966.3(GREB1L):c.4969G>A (p.Ala1657Thr)	GREB1L-related disorder [RCV004748310]	uncertain significance	18	21515484	21515484	Human		name , trait , alternate_id
408376592	CV3515046	single nucleotide variant	NM_001142966.3(GREB1L):c.5122T>C (p.Phe1708Leu)	GREB1L-related disorder [RCV004749308]	uncertain significance	18	21515637	21515637	Human		name , trait , alternate_id
408385635	CV3528605	single nucleotide variant	NM_001142966.3(GREB1L):c.5128A>G (p.Arg1710Gly)	not provided [RCV004772438]	uncertain significance	18	21515643	21515643	Human		name
596943425	CV3542929	single nucleotide variant	NM_001142966.3(GREB1L):c.4775A>T (p.Asn1592Ile)	not provided [RCV004798514]	uncertain significance	18	21513860	21513860	Human		name
596943448	CV3542939	single nucleotide variant	NM_001142966.3(GREB1L):c.4824G>C (p.Gln1608His)	not provided [RCV004798524]	uncertain significance	18	21513909	21513909	Human		name
596947489	CV3549045	single nucleotide variant	NM_001142966.3(GREB1L):c.4513C>T (p.Pro1505Ser)	not provided [RCV004811369]	uncertain significance	18	21508262	21508262	Human		name
597623093	CV3552472	single nucleotide variant	NM_001142966.3(GREB1L):c.5666G>A (p.Arg1889His)	Hearing loss, autosomal dominant 80 [RCV004821418]	uncertain significance	18	21522715	21522715	Human	1	name
597721614	CV3733773	single nucleotide variant	NM_001142966.3(GREB1L):c.5278G>T (p.Glu1760Ter)	Hearing loss, autosomal dominant 80 [RCV005053078]	likely pathogenic	18	21518040	21518040	Human	1	name
597721618	CV3733774	duplication	NM_001142966.3(GREB1L):c.5562dup (p.Asp1855Ter)	Hearing loss, autosomal dominant 80 [RCV005053079]	pathogenic	18	21520776	21520777	Human	1	name
597846206	CV3736576	single nucleotide variant	NM_001142966.3(GREB1L):c.4808T>C (p.Leu1603Pro)	not provided [RCV005065735]	uncertain significance	18	21513893	21513893	Human		name
597830226	CV3746646	single nucleotide variant	NM_001142966.3(GREB1L):c.3874C>T (p.Arg1292Trp)	not provided [RCV005061932]	uncertain significance	18	21500211	21500211	Human		name
597844634	CV3752641	single nucleotide variant	NM_001142966.3(GREB1L):c.5024A>G (p.Lys1675Arg)	not provided [RCV005087047]	uncertain significance	18	21515539	21515539	Human		name
597919170	CV3764947	single nucleotide variant	NM_001142966.3(GREB1L):c.3845C>G (p.Ser1282Cys)	not provided [RCV005114962]	uncertain significance	18	21500182	21500182	Human		name
597896315	CV3773477	single nucleotide variant	NM_001142966.3(GREB1L):c.3788C>G (p.Ala1263Gly)	not provided [RCV005111384]	uncertain significance	18	21500125	21500125	Human		name
597925362	CV3778175	single nucleotide variant	NM_001142966.3(GREB1L):c.4652A>C (p.Glu1551Ala)	not provided [RCV005130899]	uncertain significance	18	21508508	21508508	Human		name
597889833	CV3788150	single nucleotide variant	NM_001142966.3(GREB1L):c.4834C>A (p.Pro1612Thr)	not provided [RCV005125508]	uncertain significance	18	21513919	21513919	Human		name
597961053	CV3794807	single nucleotide variant	NM_001142966.3(GREB1L):c.4148C>T (p.Pro1383Leu)	not provided [RCV005138712]	uncertain significance	18	21505487	21505487	Human		name
597960416	CV3798052	single nucleotide variant	NM_001142966.3(GREB1L):c.3535G>T (p.Gly1179Trp)	not provided [RCV005138526]	uncertain significance	18	21499872	21499872	Human		name
597851071	CV3803719	single nucleotide variant	NM_001142966.3(GREB1L):c.3728G>T (p.Gly1243Val)	not provided [RCV005145436]	likely benign	18	21500065	21500065	Human		name
597919576	CV3811667	single nucleotide variant	NM_001142966.3(GREB1L):c.3641C>T (p.Pro1214Leu)	not provided [RCV005155498]	uncertain significance	18	21499978	21499978	Human		name
597957468	CV3838492	single nucleotide variant	NM_001142966.3(GREB1L):c.4715T>C (p.Met1572Thr)	not provided [RCV005191867]	uncertain significance	18	21508571	21508571	Human		name
597906954	CV3842926	single nucleotide variant	NM_001142966.3(GREB1L):c.3345C>A (p.Asp1115Glu)	not provided [RCV005182234]	likely benign	18	21496652	21496652	Human		name
597831796	CV3863934	single nucleotide variant	NM_001142966.3(GREB1L):c.5236G>A (p.Gly1746Arg)	Renal hypodysplasia/aplasia 3 [RCV005208348]	uncertain significance	18	21516719	21516719	Human	1	name
598200721	CV3892696	single nucleotide variant	NM_001142966.3(GREB1L):c.5353G>A (p.Ala1785Thr)	not provided [RCV005254529]	uncertain significance	18	21518115	21518115	Human		name
598238931	CV3893275	single nucleotide variant	NM_001142966.3(GREB1L):c.4940C>T (p.Ser1647Phe)	not provided [RCV005256008]	uncertain significance	18	21515455	21515455	Human		name
616939102	CV4015431	single nucleotide variant	NM_001142966.3(GREB1L):c.3941G>A (p.Arg1314Gln)	not provided [RCV005412943]	uncertain significance	18	21500278	21500278	Human		name
616938831	CV4015843	single nucleotide variant	NM_001142966.3(GREB1L):c.4353C>A (p.Phe1451Leu)	Renal hypodysplasia/aplasia 3 [RCV005414395]	likely pathogenic	18	21505934	21505934	Human	1	name
617150073	CV4017208	single nucleotide variant	NM_001142966.3(GREB1L):c.4246A>C (p.Lys1416Gln)	not provided [RCV005416865]	uncertain significance	18	21505827	21505827	Human		name
617150979	CV4021925	single nucleotide variant	NM_001142966.3(GREB1L):c.5063G>A (p.Cys1688Tyr)	not provided [RCV005426886]	uncertain significance	18	21515578	21515578	Human		name
13786129	CV440045	single nucleotide variant	NM_001142966.3(GREB1L):c.4368G>T (p.Gln1456His)	Hearing loss, autosomal dominant 80 [RCV001374395]\|Inner ear malformation [RCV000677231]	pathogenic	18	21505949	21505949	Human	2	name
13499855	CV446867	single nucleotide variant	NM_001142966.3(GREB1L):c.5378T>G (p.Leu1793Arg)	Renal hypodysplasia/aplasia 3 [RCV000534553]\|not provided [RCV003558443]	pathogenic	18	21518140	21518140	Human	1	name
13499956	CV446870	single nucleotide variant	NM_001142966.3(GREB1L):c.4680C>A (p.Tyr1560Ter)	Renal hypodysplasia/aplasia 3 [RCV000534917]	pathogenic	18	21508536	21508536	Human	1	name
13465515	CV446871	single nucleotide variant	NM_001142966.3(GREB1L):c.4700T>C (p.Leu1567Pro)	Renal hypodysplasia/aplasia 3 [RCV000547388]	pathogenic\|likely pathogenic	18	21508556	21508556	Human	1	name
13498246	CV446872	single nucleotide variant	NM_001142966.3(GREB1L):c.5068G>A (p.Val1690Met)	Congenital anomaly of kidney and urinary tract [RCV001849400]\|Renal hypodysplasia/aplasia 3 [RCV000527963]	pathogenic\|likely pathogenic\|uncertain significance	18	21515583	21515583	Human	2	name
13501428	CV446873	single nucleotide variant	NM_001142966.3(GREB1L):c.3295C>T (p.Gln1099Ter)	Renal hypodysplasia/aplasia 3 [RCV000540979]	pathogenic\|likely pathogenic	18	21496602	21496602	Human	1	name
13467190	CV446877	single nucleotide variant	NM_001142966.3(GREB1L):c.4607A>G (p.His1536Arg)	Renal hypodysplasia/aplasia 3 [RCV000553765]	pathogenic	18	21508463	21508463	Human	1	name
14746894	CV672288	single nucleotide variant	NM_001142966.3(GREB1L):c.3197G>C (p.Arg1066Pro)	Renal agenesis and hypodysplasia [RCV000845162]	association	18	21496504	21496504	Human		name
14746898	CV672289	single nucleotide variant	NM_001142966.3(GREB1L):c.4646T>C (p.Val1549Ala)	Renal agenesis and hypodysplasia [RCV000845166]	association	18	21508502	21508502	Human		name
14746899	CV672290	single nucleotide variant	NM_001142966.3(GREB1L):c.4843G>A (p.Val1615Ile)	Renal agenesis and hypodysplasia [RCV000845167]	association	18	21513928	21513928	Human		name
14746900	CV672291	single nucleotide variant	NM_001142966.3(GREB1L):c.4964T>C (p.Ile1655Thr)	Renal agenesis and hypodysplasia [RCV000845168]	association	18	21515479	21515479	Human		name
14746895	CV672292	single nucleotide variant	NM_001142966.3(GREB1L):c.4991A>C (p.Tyr1664Ser)	Renal agenesis and hypodysplasia [RCV000845163]	association	18	21515506	21515506	Human		name
14746901	CV672293	single nucleotide variant	NM_001142966.3(GREB1L):c.5651G>A (p.Arg1884His)	Renal agenesis and hypodysplasia [RCV000845169]\|not provided [RCV002536161]	association\|uncertain significance	18	21522700	21522700	Human	1	name
15015197	CV679804	single nucleotide variant	NM_001142966.3(GREB1L):c.3194C>T (p.Thr1065Ile)	Renal hypodysplasia/aplasia 3 [RCV000853334]	likely pathogenic	18	21496501	21496501	Human	1	name
34891247	CV906037	single nucleotide variant	NM_001142966.3(GREB1L):c.5622T>A (p.Cys1874Ter)	Renal hypodysplasia/aplasia 3 [RCV001174892]	likely pathogenic	18	21522671	21522671	Human	1	name
40814175	CV906227	single nucleotide variant	NM_001142966.3(GREB1L):c.3983G>A (p.Gly1328Asp)	Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257337]	uncertain significance	18	21500553	21500553	Human	1	name
40814168	CV906228	single nucleotide variant	NM_001142966.3(GREB1L):c.5198A>G (p.Asn1733Ser)	Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257333]\|Renal hypodysplasia/aplasia 3 [RCV005405509]	likely pathogenic\|uncertain significance	18	21516681	21516681	Human	2	name
41407976	CV962799	single nucleotide variant	NM_001142966.3(GREB1L):c.5074G>T (p.Asp1692Tyr)	Renal hypodysplasia/aplasia 3 [RCV001281297]	likely pathogenic	18	21515589	21515589	Human	1	name
40904132	CV976436	single nucleotide variant	NM_001142966.3(GREB1L):c.4530G>C (p.Lys1510Asn)	not provided [RCV001269965]	likely pathogenic	18	21508279	21508279	Human		name
40903520	CV977288	single nucleotide variant	NM_001142966.3(GREB1L):c.3176T>C (p.Ile1059Thr)	Renal hypodysplasia/aplasia 3 [RCV001270827]	uncertain significance	18	21496483	21496483	Human	1	name
243059224	CV2418213	microsatellite	NM_001142966.3(GREB1L):c.4054GAG[2] (p.Glu1354del)	Mayer-Rokitansky-Küster-Hauser syndrome type 2 [RCV003153279]	uncertain significance	18	21500624	21500626	Human		name
243056020	CV2418250	microsatellite	NM_001142966.3(GREB1L):c.2614_2615del (p.Leu872fs)	Renal hypodysplasia/aplasia 3 [RCV003154319]	pathogenic	18	21485674	21485675	Human		name
401919561	CV2798477	microsatellite	NM_001142966.3(GREB1L):c.2161_2162del (p.Leu721fs)	GREB1L-related disorder [RCV003402401]	likely pathogenic	18	21454540	21454541	Human		name , trait , alternate_id
405288583	CV3193690	duplication	NM_001142966.3(GREB1L):c.1907_1910dup (p.Pro638fs)	GREB1L-related disorder [RCV003982696]	pathogenic	18	21452139	21452140	Human		name , trait , alternate_id
405746041	CV3226346	deletion	NM_001142966.3(GREB1L):c.1147_1153del (p.Thr383fs)	Renal hypodysplasia/aplasia 3 [RCV003991337]	likely pathogenic	18	21441475	21441481	Human	1	name
597721605	CV3733770	microsatellite	NM_001142966.3(GREB1L):c.1498_1499del (p.Val500fs)	Hearing loss, autosomal dominant 80 [RCV005053075]	pathogenic	18	21449610	21449611	Human		name
40814164	CV906225	microsatellite	NM_001142966.3(GREB1L):c.2787_2788del (p.Asp930fs)	Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257331]	pathogenic	18	21490106	21490107	Human		name
156273400	CV2132915	duplication	NM_001142966.3(GREB1L):c.4115_4118dup (p.Trp1373fs)	not provided [RCV003009347]	pathogenic	18	21505453	21505454	Human		name
243059226	CV2418215	deletion	NM_001142966.3(GREB1L):c.5396_5397del (p.Lys1799fs)	Mayer-Rokitansky-Küster-Hauser syndrome type 2 [RCV003153281]	pathogenic	18	21518157	21518158	Human	1	name
329395569	CV2473213	microsatellite	NM_001142966.3(GREB1L):c.4881_4882del (p.His1627fs)	Renal hypodysplasia/aplasia 3 [RCV003219195]	likely pathogenic	18	21513964	21513965	Human		name
405869566	CV3396765	microsatellite	NM_001142966.3(GREB1L):c.3849_3850del (p.Tyr1284fs)	Renal hypodysplasia/aplasia 3 [RCV004566644]	likely pathogenic	18	21500184	21500185	Human		name
597870482	CV3858510	deletion	NM_001142966.3(GREB1L):c.4860_4861del (p.Val1622fs)	not provided [RCV005197253]	pathogenic	18	21513945	21513946	Human		name
598217776	CV3891573	deletion	NM_001142966.3(GREB1L):c.3984_3996del (p.Tyr1330fs)	Renal hypodysplasia/aplasia 3 [RCV005252415]	likely pathogenic	18	21500553	21500565	Human	1	name
616938829	CV4015845	deletion	NM_001142966.3(GREB1L):c.4276_4277del (p.Val1426fs)	Renal hypodysplasia/aplasia 3 [RCV005414397]	likely pathogenic	18	21505856	21505857	Human	1	name
152120235	CV1574176	duplication	NM_001142966.3(GREB1L):c.5584_5586dup (p.Leu1862dup)	not provided [RCV002175473]	benign	18	21520797	21520798	Human		name
597721620	CV3733775	insertion	NM_001142966.3(GREB1L):c.5761_5762insAT (p.Arg1921fs)	Hearing loss, autosomal dominant 80 [RCV005053080]	pathogenic	18	21522810	21522811	Human	1	name
597721595	CV3733768	deletion	NM_001142966.3(GREB1L):c.1323del (p.Gly441_Leu442insTer)	Hearing loss, autosomal dominant 80 [RCV005053073]	likely pathogenic	18	21444337	21444337	Human	1	name
401931829	CV2801537	deletion	NM_001142966.3(GREB1L):c.3814del (p.Leu1271_Leu1272insTer)	GREB1L-related disorder [RCV003408482]	likely pathogenic	18	21500150	21500150	Human		name , trait , alternate_id
408385297	CV3526956	indel	NM_001142966.3(GREB1L):c.3553_3555delinsCAG (p.Glu1185Gln)	not provided [RCV004772269]	uncertain significance	18	21499890	21499892	Human		name
616938830	CV4015844	deletion	NM_001142966.3(GREB1L):c.4777del (p.Asn1592_Leu1593insTer)	Renal hypodysplasia/aplasia 3 [RCV005414396]	likely pathogenic	18	21513861	21513861	Human	1	name
15119881	CV715896	deletion	NM_001142966.3(GREB1L):c.1852_1863del (p.Asp618_Asp621del)	not provided [RCV000962625]	benign	18	21452084	21452095	Human		name
597894803	CV3810107	deletion	NM_001142966.3(GREB1L):c.4910_4927del (p.Met1637_Ser1642del)	not provided [RCV005151828]	uncertain significance	18	21515422	21515439	Human		name
597866324	CV3857783	insertion	NM_001142966.3(GREB1L):c.5586_5587insCCT (p.Leu1862_Lys1863insPro)	not provided [RCV005196730]	uncertain significance	18	21520800	21520801	Human		name
597656904	CV3731622	duplication	NM_001142966.3(GREB1L):c.2037_2117dup (p.Asp705_Phe706insLeuLysLeuLeuSerGlnValCysAlaIleAlaAspSerGlySerGlnSerLeuAspLeuGlyHisPheSerLysValAsp)	not provided [RCV005001803]	uncertain significance	18	21454417	21454418	Human		name

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