Grhl2 Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)

291 records found for search term Grhl2

Refine Term:

Assembly:

Chr

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
404991426	CV2852632	single nucleotide variant	NM_024915.4(GRHL2):c.-4A>T	not specified [RCV003490816]	uncertain significance	8	101492766	101492766	Human		name
8609072	CV55378	single nucleotide variant	NM_024915.4(GRHL2):c.*6G>A	not provided [RCV001682736]\|not specified [RCV000039457]	benign	8	101666709	101666709	Human		name
150436022	CV1252992	single nucleotide variant	NM_024915.4(GRHL2):c.*41G>A	Autosomal dominant nonsyndromic hearing loss 28 [RCV001702228]\|Corneal dystrophy, posterior polymorphous, 4 [RCV001702229]\|Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome [RCV001703152]\|not provided [RCV001669320]	benign	8	101666744	101666744	Human	3	name
151233503	CV1317841	single nucleotide variant	NM_024915.4(GRHL2):c.*28G>A	not provided [RCV001787608]	likely benign	8	101666731	101666731	Human		name
13540039	CV501889	single nucleotide variant	NM_024915.4(GRHL2):c.-24C>G	Autosomal dominant nonsyndromic hearing loss 28 [RCV001703207]\|Corneal dystrophy, posterior polymorphous, 4 [RCV000988105]\|Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome [RCV001702810]\|not provided [RCV004712897]\|not specified [RCV000614137]	benign	8	101492746	101492746	Human	3	name
13529536	CV502563	single nucleotide variant	NM_024915.4(GRHL2):c.-23G>C	not specified [RCV000605776]	likely benign	8	101492747	101492747	Human		name
150411742	CV1176980	single nucleotide variant	NM_024915.4(GRHL2):c.-207C>T	not provided [RCV001547282]	likely benign	8	101492563	101492563	Human		name
150428783	CV1187298	single nucleotide variant	NM_024915.4(GRHL2):c.*123C>T	not provided [RCV001562723]	likely benign	8	101666826	101666826	Human		name
150452781	CV1231749	single nucleotide variant	NM_024915.4(GRHL2):c.*286G>A	not provided [RCV001648056]	benign	8	101666989	101666989	Human		name
150445776	CV1250563	single nucleotide variant	NM_024915.4(GRHL2):c.*285C>T	not provided [RCV001667067]	benign	8	101666988	101666988	Human		name
150542428	CV1314783	single nucleotide variant	NM_024915.4(GRHL2):c.21-2A>G	not provided [RCV001782234]\|not specified [RCV002246501]	likely pathogenic\|uncertain significance	8	101543239	101543239	Human		name
401933759	CV2799450	single nucleotide variant	NM_024915.4(GRHL2):c.21-1G>A	GRHL2-related disorder [RCV003410540]	likely pathogenic	8	101543240	101543240	Human		name , trait , alternate_id
402512871	CV3042694	single nucleotide variant	NM_024915.4(GRHL2):c.21-4A>G	not provided [RCV003715743]	likely benign	8	101543237	101543237	Human		name
150414599	CV1176981	single nucleotide variant	NM_024915.4(GRHL2):c.21-24C>T	not provided [RCV001548204]	likely benign	8	101543217	101543217	Human		name
152160424	CV1652071	single nucleotide variant	NM_024915.4(GRHL2):c.678+7C>T	not provided [RCV002180835]	likely benign	8	101558819	101558819	Human		name
9689534	CV174389	single nucleotide variant	NM_024915.4(GRHL2):c.216+8C>T	not specified [RCV000155124]	likely benign	8	101543444	101543444	Human		name
401830083	CV2744052	single nucleotide variant	NM_024915.4(GRHL2):c.679-4G>T	not provided [RCV003327281]	likely benign	8	101570335	101570335	Human		name
597905361	CV3738351	single nucleotide variant	NM_024915.4(GRHL2):c.734+8A>T	not provided [RCV005072773]	likely benign	8	101570402	101570402	Human		name
597909595	CV3781941	single nucleotide variant	NM_024915.4(GRHL2):c.20+17C>T	not provided [RCV005128433]	likely benign	8	101492806	101492806	Human		name
597949069	CV3818476	single nucleotide variant	NM_024915.4(GRHL2):c.20+15C>G	not provided [RCV005160737]	likely benign	8	101492804	101492804	Human		name
597965389	CV3848342	single nucleotide variant	NM_024915.4(GRHL2):c.678+8C>T	not provided [RCV005194222]	likely benign	8	101558820	101558820	Human		name
150428580	CV1187291	single nucleotide variant	NM_024915.4(GRHL2):c.217-58T>C	not provided [RCV001562445]	likely benign	8	101552657	101552657	Human		name
150454101	CV1232213	single nucleotide variant	NM_024915.4(GRHL2):c.20+688A>G	not provided [RCV001648226]	benign	8	101493477	101493477	Human		name
150469853	CV1243226	single nucleotide variant	NM_024915.4(GRHL2):c.20+772C>T	not provided [RCV001650747]	benign	8	101493561	101493561	Human		name
150485174	CV1274000	single nucleotide variant	NM_024915.4(GRHL2):c.735-90G>A	not provided [RCV001698656]	benign	8	101573578	101573578	Human		name
150460839	CV1275878	single nucleotide variant	NM_024915.4(GRHL2):c.21-168A>G	not provided [RCV001709816]	benign	8	101543073	101543073	Human		name
150468479	CV1277736	single nucleotide variant	NM_024915.4(GRHL2):c.216+93G>A	not provided [RCV001711031]	benign	8	101543529	101543529	Human		name
150477876	CV1281759	single nucleotide variant	NM_024915.4(GRHL2):c.20+674C>G	not provided [RCV001714199]	benign	8	101493463	101493463	Human		name
153349769	CV1693943	single nucleotide variant	NM_024915.4(GRHL2):c.1098+6T>C	not provided [RCV002276188]	likely benign\|conflicting interpretations of pathogenicity	8	101599157	101599157	Human		name
9689957	CV174528	deletion	NM_024915.4(GRHL2):c.285-14del	not provided [RCV001812134]\|not specified [RCV000155600]	benign\|not provided	8	101558400	101558400	Human		name
156124130	CV1953040	single nucleotide variant	NM_024915.4(GRHL2):c.285-14G>A	not provided [RCV002571980]	uncertain significance	8	101558405	101558405	Human		name
156114059	CV1993793	single nucleotide variant	NM_024915.4(GRHL2):c.679-18A>T	not provided [RCV002662601]	likely benign	8	101570321	101570321	Human		name
155958574	CV2010621	single nucleotide variant	NM_024915.4(GRHL2):c.892-16A>G	not provided [RCV002686400]	likely benign	8	101577392	101577392	Human		name
155936731	CV2071433	single nucleotide variant	NM_024915.4(GRHL2):c.892-18C>G	not provided [RCV002839131]	uncertain significance	8	101577390	101577390	Human		name
243059017	CV2414959	deletion	NM_024915.4(GRHL2):c.1518-2del	not provided [RCV003145901]	likely pathogenic	8	101644129	101644129	Human		name
11633672	CV274160	single nucleotide variant	NM_024915.4(GRHL2):c.1098+1G>A	not provided [RCV000358123]	likely pathogenic	8	101599152	101599152	Human		name
401873267	CV2752063	single nucleotide variant	NM_024915.4(GRHL2):c.1004-2A>C	GRHL2-related disorder [RCV004548603]	likely pathogenic	8	101599055	101599055	Human		name , trait , alternate_id
405043408	CV2859659	single nucleotide variant	NM_024915.4(GRHL2):c.20+544G>C	not provided [RCV003579283]	likely benign	8	101493333	101493333	Human		name
405077223	CV2869615	single nucleotide variant	NM_024915.4(GRHL2):c.1485+8C>T	not provided [RCV003548890]	likely benign	8	101632373	101632373	Human		name
405128823	CV3014111	single nucleotide variant	NM_024915.4(GRHL2):c.1003+3A>G	not provided [RCV003701484]	uncertain significance	8	101577522	101577522	Human		name
405174405	CV3123016	single nucleotide variant	NM_024915.4(GRHL2):c.892-18C>T	not provided [RCV003819414]	likely benign	8	101577390	101577390	Human		name
405028561	CV3129841	single nucleotide variant	NM_024915.4(GRHL2):c.1517+8A>T	not provided [RCV003830439]	likely benign	8	101636936	101636936	Human		name
597714536	CV3733119	single nucleotide variant	NM_024915.4(GRHL2):c.1099-1G>A	Autosomal dominant nonsyndromic hearing loss 28 [RCV005052308]	likely pathogenic	8	101619538	101619538	Human	1	name
597721632	CV3733778	single nucleotide variant	NM_024915.4(GRHL2):c.1698+1G>A	Autosomal dominant nonsyndromic hearing loss 28 [RCV005053083]	likely pathogenic	8	101649500	101649500	Human	1	name
597911107	CV3745551	single nucleotide variant	NM_024915.4(GRHL2):c.284+19C>G	not provided [RCV005073552]	likely benign	8	101552801	101552801	Human		name
597874351	CV3747450	single nucleotide variant	NM_024915.4(GRHL2):c.679-20C>T	not provided [RCV005069134]	likely benign	8	101570319	101570319	Human		name
13673948	CV482318	deletion	NM_024915.4(GRHL2):c.20+133del	Corneal dystrophy [RCV000656694]\|Corneal dystrophy, posterior polymorphous, 4 [RCV000656696]	pathogenic\|likely pathogenic	8	101492922	101492922	Human	3	name
13673942	CV482319	deletion	NM_024915.4(GRHL2):c.20+257del	Corneal dystrophy [RCV000656693]	likely pathogenic	8	101493045	101493045	Human	2	name
13673941	CV482320	single nucleotide variant	NM_024915.4(GRHL2):c.20+544G>T	Corneal dystrophy [RCV000656692]\|Corneal dystrophy, posterior polymorphous, 4 [RCV000656697]	pathogenic\|likely pathogenic	8	101493333	101493333	Human	3	name
13673968	CV536154	deletion	NM_024915.3(GRHL2):c.20+133del	CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4 [RCV000656696]	pathogenic	8	101492922	101492922	Human		name
8609073	CV55379	single nucleotide variant	NM_024915.4(GRHL2):c.1098+9C>T	Autosomal dominant nonsyndromic hearing loss 28 [RCV002504906]\|not provided [RCV000966203]\|not specified [RCV000039458]	benign\|likely benign\|conflicting interpretations of pathogenicity	8	101599160	101599160	Human	1	name
15169630	CV744277	single nucleotide variant	NM_024915.4(GRHL2):c.1698+7C>T	GRHL2-related disorder [RCV003950642]\|not provided [RCV000905097]	likely benign	8	101649506	101649506	Human		name , trait , alternate_id
8574066	CV97553	single nucleotide variant	NM_024915.4(GRHL2):c.1258-1G>A	Autosomal dominant nonsyndromic hearing loss 28 [RCV000077792]	pathogenic	8	101631636	101631636	Human	1	name
150416649	CV1180396	single nucleotide variant	NM_024915.4(GRHL2):c.1517+35A>G	not provided [RCV001549757]	likely benign	8	101636963	101636963	Human		name
150423178	CV1184055	single nucleotide variant	NM_024915.4(GRHL2):c.1518-42C>T	not provided [RCV001554979]	likely benign	8	101644089	101644089	Human		name
150426179	CV1184056	single nucleotide variant	NM_024915.4(GRHL2):c.1764-41C>T	not provided [RCV001559018]	likely benign	8	101666548	101666548	Human		name
150426524	CV1187292	single nucleotide variant	NM_024915.4(GRHL2):c.1004-96G>A	not provided [RCV001559686]	likely benign	8	101598961	101598961	Human		name
150428203	CV1187293	single nucleotide variant	NM_024915.4(GRHL2):c.1517+66C>T	not provided [RCV001561955]	likely benign	8	101636994	101636994	Human		name
150426615	CV1187296	single nucleotide variant	NM_024915.4(GRHL2):c.1763+29T>G	not provided [RCV001559799]	likely benign	8	101664547	101664547	Human		name
150429342	CV1187297	single nucleotide variant	NM_024915.4(GRHL2):c.1764-40G>A	not provided [RCV001563472]	likely benign	8	101666549	101666549	Human		name
150442817	CV1204768	single nucleotide variant	NM_024915.4(GRHL2):c.734+246C>A	not provided [RCV001583875]	likely benign	8	101570640	101570640	Human		name
150496572	CV1206125	single nucleotide variant	NM_024915.4(GRHL2):c.1098+42C>A	not provided [RCV001593807]	likely benign	8	101599193	101599193	Human		name
150502530	CV1212256	single nucleotide variant	NM_024915.4(GRHL2):c.891+297A>G	not provided [RCV001595129]	benign	8	101574121	101574121	Human		name
150510581	CV1242428	single nucleotide variant	NM_024915.4(GRHL2):c.1258-47T>C	not provided [RCV001660778]	benign	8	101631590	101631590	Human		name
8649686	CV126260	single nucleotide variant	NM_024915.3(GRHL2):c.20+6884A>C	Lung cancer [RCV000106747]	uncertain significance	8	101499673	101499673	Human		name
150489540	CV1268917	single nucleotide variant	NM_024915.4(GRHL2):c.285-168T>G	not provided [RCV001687481]	benign	8	101558251	101558251	Human		name
150445311	CV1269414	single nucleotide variant	NM_024915.4(GRHL2):c.216+229G>A	not provided [RCV001691102]	benign	8	101543665	101543665	Human		name
150479507	CV1273479	single nucleotide variant	NM_024915.4(GRHL2):c.1612+17G>A	not provided [RCV001696683]	benign	8	101644242	101644242	Human		name
150454067	CV1276937	single nucleotide variant	NM_024915.4(GRHL2):c.734+253A>C	not provided [RCV001708728]	benign	8	101570647	101570647	Human		name
150464954	CV1277159	single nucleotide variant	NM_024915.4(GRHL2):c.285-248T>G	not provided [RCV001710453]	benign	8	101558171	101558171	Human		name
150489660	CV1279169	deletion	NM_024915.4(GRHL2):c.734+253del	not provided [RCV001716337]	benign	8	101570646	101570646	Human		name
150510180	CV1286717	duplication	NM_024915.4(GRHL2):c.892-217dup	not provided [RCV001720952]	benign	8	101577181	101577182	Human		name
152086580	CV1573924	deletion	NM_024915.4(GRHL2):c.1257+23del	not provided [RCV002150013]	benign	8	101619715	101619715	Human		name
152086152	CV1599421	single nucleotide variant	NM_024915.4(GRHL2):c.1486-19C>G	not provided [RCV002093511]	benign	8	101636878	101636878	Human		name
152093827	CV1609200	single nucleotide variant	NM_024915.4(GRHL2):c.1763+18C>G	not provided [RCV002172188]	likely benign	8	101664536	101664536	Human		name
9687792	CV174392	single nucleotide variant	NM_024915.4(GRHL2):c.1517+12A>G	not provided [RCV001594382]\|not specified [RCV000150800]	benign\|likely benign	8	101636940	101636940	Human		name
156268801	CV1915164	single nucleotide variant	NM_024915.4(GRHL2):c.1486-10T>G	not provided [RCV002628019]	uncertain significance	8	101636887	101636887	Human		name
156125723	CV1962763	single nucleotide variant	NM_024915.4(GRHL2):c.1003+12T>C	not provided [RCV002572035]	likely benign	8	101577531	101577531	Human		name
156138366	CV2048239	single nucleotide variant	NM_024915.4(GRHL2):c.1613-20C>G	not provided [RCV002800862]	likely benign	8	101649394	101649394	Human		name
155929217	CV2145361	single nucleotide variant	NM_024915.4(GRHL2):c.1764-16C>T	not provided [RCV003013550]	likely benign	8	101666573	101666573	Human		name
11089216	CV229621	single nucleotide variant	NM_024915.4(GRHL2):c.1764-12C>G	not provided [RCV002057167]\|not specified [RCV000214532]	likely benign\|uncertain significance	8	101666577	101666577	Human		name
11552283	CV252997	single nucleotide variant	NM_024915.4(GRHL2):c.1764-19C>T	Autosomal dominant nonsyndromic hearing loss 28 [RCV001701914]\|Corneal dystrophy, posterior polymorphous, 4 [RCV001701915]\|Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome [RCV001702403]\|not provided [RCV001610734]\|not specified [RCV000254175]	benign	8	101666570	101666570	Human	3	name
402508250	CV2941782	single nucleotide variant	NM_024915.4(GRHL2):c.1345+16A>C	not provided [RCV003662289]	likely benign	8	101631740	101631740	Human		name
405130853	CV2962442	single nucleotide variant	NM_024915.4(GRHL2):c.1698+18T>C	not provided [RCV003668364]	likely benign	8	101649517	101649517	Human		name
405146133	CV3126500	single nucleotide variant	NM_024915.4(GRHL2):c.1613-20C>T	not provided [RCV003817227]	likely benign	8	101649394	101649394	Human		name
405197110	CV3146701	single nucleotide variant	NM_024915.4(GRHL2):c.1517+17T>C	not provided [RCV003844056]	likely benign	8	101636945	101636945	Human		name
597851255	CV3761878	single nucleotide variant	NM_024915.4(GRHL2):c.1764-12C>A	not provided [RCV005087975]	likely benign	8	101666577	101666577	Human		name
597900216	CV3796531	single nucleotide variant	NM_024915.4(GRHL2):c.1099-15T>C	not provided [RCV005152614]	likely benign	8	101619524	101619524	Human		name
14727568	CV663195	single nucleotide variant	NM_024915.4(GRHL2):c.1345+26C>T	not provided [RCV000834376]	benign	8	101631750	101631750	Human		name
150335976	CV1171794	single nucleotide variant	NM_024915.4(GRHL2):c.1698+174T>A	not provided [RCV001540785]	likely benign	8	101649673	101649673	Human		name
150404839	CV1176982	single nucleotide variant	NM_024915.4(GRHL2):c.1518-160C>T	not provided [RCV001544596]	likely benign	8	101643971	101643971	Human		name
150422006	CV1180395	single nucleotide variant	NM_024915.4(GRHL2):c.1099-189A>T	not provided [RCV001552273]	likely benign	8	101619350	101619350	Human		name
150426449	CV1187294	single nucleotide variant	NM_024915.4(GRHL2):c.1517+145G>C	not provided [RCV001559595]	likely benign	8	101637073	101637073	Human		name
150427703	CV1187295	single nucleotide variant	NM_024915.4(GRHL2):c.1612+231C>T	not provided [RCV001561282]	likely benign	8	101644456	101644456	Human		name
150494502	CV1204843	single nucleotide variant	NM_024915.4(GRHL2):c.1517+119C>G	not provided [RCV001593335]	likely benign	8	101637047	101637047	Human		name
150495262	CV1204972	single nucleotide variant	NM_024915.4(GRHL2):c.1486-213T>C	not provided [RCV001593464]	likely benign	8	101636684	101636684	Human		name
150466620	CV1206178	single nucleotide variant	NM_024915.4(GRHL2):c.1518-259G>C	not provided [RCV001587753]	likely benign	8	101643872	101643872	Human		name
150478366	CV1207653	single nucleotide variant	NM_024915.4(GRHL2):c.1485+173C>T	not provided [RCV001589929]	likely benign	8	101632538	101632538	Human		name
150507557	CV1211205	single nucleotide variant	NM_024915.4(GRHL2):c.1345+124C>T	not provided [RCV001596324]	likely benign	8	101631848	101631848	Human		name
150507917	CV1213894	single nucleotide variant	NM_024915.4(GRHL2):c.1764-139T>C	not provided [RCV001596415]	likely benign	8	101666450	101666450	Human		name
150462169	CV1214606	single nucleotide variant	NM_024915.4(GRHL2):c.1613-234C>T	not provided [RCV001613599]	benign	8	101649180	101649180	Human		name
150513605	CV1229068	single nucleotide variant	NM_024915.4(GRHL2):c.1517+271G>C	not provided [RCV001637910]	benign	8	101637199	101637199	Human		name
150455019	CV1232383	single nucleotide variant	NM_024915.4(GRHL2):c.1518-230G>T	not provided [RCV001648397]	benign	8	101643901	101643901	Human		name
150469748	CV1243208	single nucleotide variant	NM_024915.4(GRHL2):c.1486-208A>C	not provided [RCV001650728]	benign	8	101636689	101636689	Human		name
150484080	CV1245224	single nucleotide variant	NM_024915.4(GRHL2):c.1517+148C>T	not provided [RCV001653401]	benign	8	101637076	101637076	Human		name
150454985	CV1261076	single nucleotide variant	NM_024915.4(GRHL2):c.1612+192C>T	not provided [RCV001681274]	benign	8	101644417	101644417	Human		name
150459328	CV1269784	single nucleotide variant	NM_024915.4(GRHL2):c.1763+196C>T	not provided [RCV001693324]	benign	8	101664714	101664714	Human		name
150446081	CV1271815	duplication	NM_024915.4(GRHL2):c.1257+204dup	not provided [RCV001691229]	benign	8	101619883	101619884	Human		name
150486217	CV1273971	single nucleotide variant	NM_024915.4(GRHL2):c.1003+192C>T	not provided [RCV001698898]	benign	8	101577711	101577711	Human		name
150466047	CV1277339	deletion	NM_024915.4(GRHL2):c.1257+204del	not provided [RCV001710634]	benign	8	101619884	101619884	Human		name
150424338	CV1184054	microsatellite	NM_024915.4(GRHL2):c.1486-172AC[25]	not provided [RCV001556528]	likely benign	8	101636724	101636725	Human		name
150514174	CV1210896	microsatellite	NM_024915.4(GRHL2):c.1486-172AC[18]	not provided [RCV001598939]	benign	8	101636725	101636730	Human		name
150485638	CV1223041	microsatellite	NM_024915.4(GRHL2):c.1486-172AC[24]	not provided [RCV001617754]	benign	8	101636724	101636725	Human		name
150499904	CV1235817	microsatellite	NM_024915.4(GRHL2):c.1486-172AC[22]	not provided [RCV001656500]	benign	8	101636724	101636725	Human		name
150506044	CV1254772	microsatellite	NM_024915.4(GRHL2):c.1486-172AC[20]	not provided [RCV001678077]	benign	8	101636725	101636726	Human		name
150448630	CV1275566	microsatellite	NM_024915.4(GRHL2):c.1486-172AC[23]	not provided [RCV001708021]	benign	8	101636724	101636725	Human		name
150498997	CV1235659	deletion	NM_024915.4(GRHL2):c.20+651_20+663del	not provided [RCV001656342]	benign	8	101493430	101493442	Human		name
401799096	CV2741672	single nucleotide variant	NM_024915.4(GRHL2):c.81A>G (p.Arg27=)	not provided [RCV003323080]	likely benign	8	101543301	101543301	Human		name
405234939	CV3040743	single nucleotide variant	NM_024915.4(GRHL2):c.87C>T (p.Tyr29=)	not provided [RCV003712169]	likely benign	8	101543307	101543307	Human		name
408381589	CV3526540	single nucleotide variant	NM_024915.4(GRHL2):c.132G>C (p.Leu44=)	not provided [RCV004771853]	uncertain significance	8	101543352	101543352	Human		name
597830890	CV3743623	single nucleotide variant	NM_024915.4(GRHL2):c.192C>T (p.Leu64=)	not provided [RCV005062440]	likely benign	8	101543412	101543412	Human		name
597942999	CV3816366	single nucleotide variant	NM_024915.4(GRHL2):c.183T>G (p.Ala61=)	not provided [RCV005159427]	likely benign	8	101543403	101543403	Human		name
8609077	CV55383	single nucleotide variant	NM_024915.4(GRHL2):c.26A>G (p.Lys9Arg)	not provided [RCV000992093]\|not specified [RCV000039462]	benign	8	101543246	101543246	Human	1	name
8609077	CV55383	single nucleotide variant	NM_024915.4(GRHL2):c.26A>G (p.Lys9Arg)	not provided [RCV000992093]\|not specified [RCV000039462]	benign	8	101543246	101543247	Human	1	name
151765003	CV1403226	single nucleotide variant	NM_024915.4(GRHL2):c.77G>A (p.Arg26Gln)	not provided [RCV001914411]	uncertain significance	8	101543297	101543297	Human		name
151777609	CV1472185	single nucleotide variant	NM_024915.4(GRHL2):c.50T>A (p.Met17Lys)	not provided [RCV002045834]	uncertain significance	8	101543270	101543270	Human		name
9691706	CV174529	single nucleotide variant	NM_024915.4(GRHL2):c.543G>A (p.Glu181=)	GRHL2-related disorder [RCV003965121]\|not provided [RCV001571501]\|not specified [RCV000150798]	likely benign	8	101558677	101558677	Human		name , trait , alternate_id
156141021	CV2125758	single nucleotide variant	NM_024915.4(GRHL2):c.69C>G (p.Phe23Leu)	not provided [RCV002954233]	uncertain significance	8	101543289	101543289	Human		name
12791655	CV226668	single nucleotide variant	NM_024915.4(GRHL2):c.34G>T (p.Val12Leu)	Progressive sensorineural hearing impairment [RCV000416587]	likely pathogenic\|uncertain significance	8	101543254	101543254	Human	2	name
11092422	CV229617	single nucleotide variant	NM_024915.4(GRHL2):c.804C>T (p.Thr268=)	GRHL2-related disorder [RCV004742335]\|not provided [RCV000732186]\|not specified [RCV000218517]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	101573737	101573737	Human		name , trait , alternate_id
11095760	CV229618	single nucleotide variant	NM_024915.4(GRHL2):c.816A>G (p.Lys272=)	GRHL2-related disorder [RCV003917895]\|not provided [RCV001651078]\|not specified [RCV000222734]	likely benign	8	101573749	101573749	Human		name , trait , alternate_id
405173342	CV2907737	single nucleotide variant	NM_024915.4(GRHL2):c.753C>T (p.Thr251=)	not provided [RCV003563320]	likely benign	8	101573686	101573686	Human		name
405095255	CV2943965	single nucleotide variant	NM_024915.4(GRHL2):c.669A>G (p.Ala223=)	not provided [RCV003665590]	likely benign	8	101558803	101558803	Human		name
597681033	CV3678524	single nucleotide variant	NM_024915.4(GRHL2):c.46C>T (p.Pro16Ser)	Inborn genetic diseases [RCV004982768]	uncertain significance	8	101543266	101543266	Human	1	name
597681044	CV3678526	single nucleotide variant	NM_024915.4(GRHL2):c.58G>A (p.Asp20Asn)	Inborn genetic diseases [RCV004982770]	uncertain significance	8	101543278	101543278	Human	1	name
598187746	CV3967666	single nucleotide variant	NM_024915.4(GRHL2):c.56G>A (p.Ser19Asn)	Inborn genetic diseases [RCV005353729]	uncertain significance	8	101543276	101543276	Human	1	name
13539487	CV497025	single nucleotide variant	NM_024915.4(GRHL2):c.83C>G (p.Ala28Gly)	not provided [RCV001860250]\|not specified [RCV000613350]	uncertain significance	8	101543303	101543303	Human		name
13538526	CV497026	single nucleotide variant	NM_024915.4(GRHL2):c.849C>T (p.Thr283=)	not provided [RCV002531125]\|not specified [RCV000611961]	likely benign	8	101573782	101573782	Human		name
8609079	CV55385	single nucleotide variant	NM_024915.4(GRHL2):c.651C>T (p.Ser217=)	not provided [RCV000883876]\|not specified [RCV000039464]	benign	8	101558785	101558785	Human		name
14703319	CV654499	single nucleotide variant	NM_024915.4(GRHL2):c.432C>T (p.Pro144=)	not specified [RCV000825167]	likely benign	8	101558566	101558566	Human		name
14741904	CV655824	single nucleotide variant	NM_024915.4(GRHL2):c.417C>T (p.Tyr139=)	not provided [RCV000841011]	likely benign	8	101558551	101558551	Human		name
21066495	CV793257	single nucleotide variant	NM_024915.4(GRHL2):c.981G>A (p.Ala327=)	not provided [RCV000992094]	benign\|likely benign	8	101577497	101577497	Human		name
21069818	CV796104	single nucleotide variant	NM_024915.4(GRHL2):c.987G>A (p.Gln329=)	not provided [RCV000999061]	likely benign\|conflicting interpretations of pathogenicity	8	101577503	101577503	Human		name
150331770	CV1171795	single nucleotide variant	NM_024915.4(GRHL2):c.1863G>A (p.Thr621=)	not provided [RCV001538767]	likely benign	8	101666688	101666688	Human		name
150413982	CV1190729	single nucleotide variant	NM_024915.4(GRHL2):c.1245C>T (p.Val415=)	GRHL2-related disorder [RCV003921226]\|not provided [RCV001567371]	likely benign	8	101619685	101619685	Human		name , trait , alternate_id
150416888	CV1194004	single nucleotide variant	NM_024915.4(GRHL2):c.1641C>T (p.Asp547=)	not provided [RCV001568534]	likely benign	8	101649442	101649442	Human		name
150540708	CV1296104	single nucleotide variant	NM_024915.4(GRHL2):c.136G>A (p.Ala46Thr)	not provided [RCV001760573]	uncertain significance	8	101543356	101543356	Human		name
152078777	CV1602189	single nucleotide variant	NM_024915.4(GRHL2):c.1029G>A (p.Thr343=)	not provided [RCV002149032]	likely benign	8	101599082	101599082	Human		name
155645865	CV1709221	single nucleotide variant	NM_024915.4(GRHL2):c.223C>T (p.Arg75Ter)	not provided [RCV002292097]	likely pathogenic	8	101552721	101552721	Human		name
9687791	CV174530	single nucleotide variant	NM_024915.4(GRHL2):c.1500G>A (p.Thr500=)	not provided [RCV000959032]\|not specified [RCV000150799]	benign\|likely benign\|conflicting interpretations of pathogenicity	8	101636911	101636911	Human		name
9689754	CV174531	single nucleotide variant	NM_024915.4(GRHL2):c.1572A>G (p.Pro524=)	not provided [RCV000992092]\|not specified [RCV000155363]	benign	8	101644185	101644185	Human		name
156416879	CV1898345	single nucleotide variant	NM_024915.4(GRHL2):c.1848G>A (p.Glu616=)	not provided [RCV002610407]	benign	8	101666673	101666673	Human		name
156298116	CV2159372	single nucleotide variant	NM_024915.4(GRHL2):c.193G>A (p.Gly65Ser)	GRHL2-related disorder [RCV004744532]\|not provided [RCV003045422]	uncertain significance	8	101543413	101543413	Human		name , trait , alternate_id
156208370	CV2250115	single nucleotide variant	NM_024915.4(GRHL2):c.263G>A (p.Ser88Asn)	Inborn genetic diseases [RCV002803911]	uncertain significance	8	101552761	101552761	Human	1	name
11091042	CV229620	single nucleotide variant	NM_024915.4(GRHL2):c.1416T>C (p.Pro472=)	not provided [RCV001547115]\|not specified [RCV000216820]	likely benign	8	101632296	101632296	Human		name
329848804	CV2523552	single nucleotide variant	NM_024915.4(GRHL2):c.256A>G (p.Ser86Gly)	not provided [RCV003225566]	uncertain significance	8	101552754	101552754	Human		name
401726451	CV2695686	single nucleotide variant	NM_024915.4(GRHL2):c.254C>T (p.Ala85Val)	Inborn genetic diseases [RCV003246369]	uncertain significance	8	101552752	101552752	Human	1	name
405065570	CV2879133	single nucleotide variant	NM_024915.4(GRHL2):c.1722C>T (p.Pro574=)	not provided [RCV003548215]	likely benign	8	101664477	101664477	Human		name
405248752	CV2982366	single nucleotide variant	NM_024915.4(GRHL2):c.1560G>A (p.Glu520=)	not provided [RCV003685914]	likely benign	8	101644173	101644173	Human		name
405127747	CV3163176	single nucleotide variant	NM_024915.4(GRHL2):c.1609C>A (p.Arg537=)	not provided [RCV003854357]	likely benign	8	101644222	101644222	Human		name
405273106	CV3197609	single nucleotide variant	NM_024915.4(GRHL2):c.1335A>G (p.Gln445=)	GRHL2-related disorder [RCV003901577]	likely benign	8	101631714	101631714	Human		name , trait , alternate_id
407463063	CV3433141	single nucleotide variant	NM_024915.4(GRHL2):c.257G>A (p.Ser86Asn)	Inborn genetic diseases [RCV004634728]	uncertain significance	8	101552755	101552755	Human	1	name
596943616	CV3544307	single nucleotide variant	NM_024915.4(GRHL2):c.166G>C (p.Gly56Arg)	not specified [RCV004800787]	uncertain significance	8	101543386	101543386	Human		name
597958530	CV3751907	single nucleotide variant	NM_024915.4(GRHL2):c.1299C>T (p.Asn433=)	not provided [RCV005081037]	likely benign	8	101631678	101631678	Human		name
597938550	CV3759866	single nucleotide variant	NM_024915.4(GRHL2):c.1524T>C (p.Ser508=)	not provided [RCV005076788]	likely benign	8	101644137	101644137	Human		name
597904420	CV3784653	single nucleotide variant	NM_024915.4(GRHL2):c.1080C>T (p.Asp360=)	not provided [RCV005127704]	likely benign	8	101599133	101599133	Human		name
597879885	CV3826313	single nucleotide variant	NM_024915.4(GRHL2):c.1029G>T (p.Thr343=)	not provided [RCV005178009]	likely benign	8	101599082	101599082	Human		name
597964236	CV3837891	single nucleotide variant	NM_024915.4(GRHL2):c.1809C>T (p.Asn603=)	not provided [RCV005193875]	likely benign	8	101666634	101666634	Human		name
597954378	CV3844405	single nucleotide variant	NM_024915.4(GRHL2):c.1116T>C (p.Asn372=)	not provided [RCV005191078]	likely benign	8	101619556	101619556	Human		name
617154460	CV4022502	single nucleotide variant	NM_024915.4(GRHL2):c.104C>T (p.Ala35Val)	not provided [RCV005429859]	uncertain significance	8	101543324	101543324	Human		name
12905558	CV413781	deletion	NM_024915.4(GRHL2):c.801del (p.Met267fs)	not provided [RCV000487664]	likely pathogenic	8	101573734	101573734	Human		name
13535698	CV496929	single nucleotide variant	NM_024915.4(GRHL2):c.1212A>G (p.Lys404=)	not specified [RCV000607957]	likely benign	8	101619652	101619652	Human		name
13539983	CV502572	single nucleotide variant	NM_024915.4(GRHL2):c.1836G>A (p.Glu612=)	not provided [RCV001698450]	benign\|likely benign	8	101666661	101666661	Human		name
8609076	CV55382	single nucleotide variant	NM_024915.4(GRHL2):c.1806G>C (p.Ser602=)	not provided [RCV000973425]\|not specified [RCV000039461]	benign	8	101666631	101666631	Human		name
13809798	CV577026	single nucleotide variant	NM_024915.4(GRHL2):c.1806G>A (p.Ser602=)	not provided [RCV000711853]	benign\|likely benign	8	101666631	101666631	Human		name
14743938	CV655825	single nucleotide variant	NM_024915.4(GRHL2):c.1152G>A (p.Val384=)	not provided [RCV000842414]	likely benign	8	101619592	101619592	Human		name
8632749	CV87964	single nucleotide variant	NM_024915.4(GRHL2):c.1095G>A (p.Ala365=)	not provided [RCV002139418]	likely benign\|not provided	8	101599148	101599148	Human		name
8632750	CV87965	single nucleotide variant	NM_024915.3(GRHL2):c.1818C>T (p.Thr606=)	Malignant melanoma [RCV000068057]	not provided	8	101666643	101666643	Human		name
150494592	CV1238891	duplication	NM_024915.4(GRHL2):c.1699-113_1699-111dup	not provided [RCV001655435]	benign	8	101664338	101664339	Human		name
150555133	CV1295948	single nucleotide variant	NM_024915.4(GRHL2):c.592G>A (p.Ala198Thr)	not provided [RCV001772457]	uncertain significance	8	101558726	101558726	Human		name
150545720	CV1298844	single nucleotide variant	NM_024915.4(GRHL2):c.442G>A (p.Ala148Thr)	not provided [RCV001763110]	uncertain significance	8	101558576	101558576	Human		name
150531283	CV1299365	single nucleotide variant	NM_024915.4(GRHL2):c.980C>T (p.Ala327Val)	not provided [RCV001757058]	uncertain significance	8	101577496	101577496	Human		name
150533897	CV1300281	single nucleotide variant	NM_024915.4(GRHL2):c.437G>A (p.Ser146Asn)	not provided [RCV001758409]	uncertain significance	8	101558571	101558571	Human		name
150547100	CV1302941	single nucleotide variant	NM_024915.4(GRHL2):c.406C>T (p.Arg136Trp)	not provided [RCV001763686]	uncertain significance	8	101558540	101558540	Human		name
151351715	CV1321935	single nucleotide variant	NM_024915.4(GRHL2):c.686G>A (p.Arg229Gln)	not provided [RCV001806605]	uncertain significance	8	101570346	101570346	Human		name
153303597	CV1690370	single nucleotide variant	NM_024915.4(GRHL2):c.303T>A (p.Ser101Arg)	Inborn genetic diseases [RCV003308086]\|not provided [RCV002269413]	conflicting interpretations of pathogenicity\|uncertain significance	8	101558437	101558437	Human	1	name
8595664	CV17234	duplication	NM_024915.4(GRHL2):c.1609dup (p.Arg537fs)	Autosomal dominant nonsyndromic hearing loss 28 [RCV000002279]	pathogenic	8	101644221	101644222	Human	1	name
9690574	CV174390	single nucleotide variant	NM_024915.4(GRHL2):c.449T>G (p.Ile150Ser)	not specified [RCV000156257]	uncertain significance	8	101558583	101558583	Human		name
9689535	CV174391	single nucleotide variant	NM_024915.4(GRHL2):c.548G>A (p.Arg183Gln)	Autosomal dominant nonsyndromic hearing loss 28 [RCV002484936]\|not provided [RCV001568154]\|not specified [RCV000155125]	uncertain significance	8	101558682	101558682	Human	1	name
156250461	CV1887048	single nucleotide variant	NM_024915.4(GRHL2):c.775C>T (p.Arg259Cys)	not provided [RCV003086083]	uncertain significance	8	101573708	101573708	Human		name
156057428	CV2008060	single nucleotide variant	NM_024915.4(GRHL2):c.830C>A (p.Ala277Asp)	not provided [RCV002705268]	uncertain significance	8	101573763	101573763	Human		name
155953780	CV2077380	single nucleotide variant	NM_024915.4(GRHL2):c.619G>T (p.Asp207Tyr)	not provided [RCV002880651]	uncertain significance	8	101558753	101558753	Human		name
156049305	CV2241891	single nucleotide variant	NM_024915.4(GRHL2):c.788G>C (p.Gly263Ala)	Inborn genetic diseases [RCV002781928]	uncertain significance	8	101573721	101573721	Human	1	name
11092136	CV229616	single nucleotide variant	NM_024915.4(GRHL2):c.641G>A (p.Ser214Asn)	Corneal dystrophy, posterior polymorphous, 4 [RCV003225723]\|not provided [RCV004820002]\|not specified [RCV000218162]	uncertain significance	8	101558775	101558775	Human	1	name
329386118	CV2458848	single nucleotide variant	NM_024915.4(GRHL2):c.521A>G (p.Tyr174Cys)	Inborn genetic diseases [RCV003214663]	uncertain significance	8	101558655	101558655	Human	1	name
329952315	CV2671664	single nucleotide variant	NM_024915.4(GRHL2):c.914G>T (p.Ser305Ile)	not provided [RCV003237060]	uncertain significance	8	101577430	101577430	Human		name
401799103	CV2741679	single nucleotide variant	NM_024915.4(GRHL2):c.637G>A (p.Asp213Asn)	not provided [RCV003323087]	uncertain significance	8	101558771	101558771	Human		name
401864520	CV2777870	single nucleotide variant	NM_024915.4(GRHL2):c.673A>G (p.Thr225Ala)	Inborn genetic diseases [RCV003359386]	likely benign	8	101558807	101558807	Human	1	name
401913600	CV2830476	single nucleotide variant	NM_024915.4(GRHL2):c.429C>G (p.Phe143Leu)	not provided [RCV003441691]	uncertain significance	8	101558563	101558563	Human		name
405254934	CV3000046	single nucleotide variant	NM_024915.4(GRHL2):c.365T>G (p.Val122Gly)	not provided [RCV003723235]	uncertain significance	8	101558499	101558499	Human		name
405050565	CV3025541	single nucleotide variant	NM_024915.4(GRHL2):c.901A>T (p.Met301Leu)	not provided [RCV003696952]	uncertain significance	8	101577417	101577417	Human		name
405137336	CV3028901	single nucleotide variant	NM_024915.4(GRHL2):c.776G>A (p.Arg259His)	not provided [RCV003702213]	uncertain significance	8	101573709	101573709	Human		name
405165422	CV3059536	single nucleotide variant	NM_024915.4(GRHL2):c.596C>A (p.Thr199Asn)	Inborn genetic diseases [RCV004980994]\|not provided [RCV003727403]	uncertain significance	8	101558730	101558730	Human	1	name
405235485	CV3166293	single nucleotide variant	NM_024915.4(GRHL2):c.298A>C (p.Thr100Pro)	not provided [RCV003853742]	uncertain significance	8	101558432	101558432	Human		name
405757605	CV3262481	single nucleotide variant	NM_024915.4(GRHL2):c.527G>A (p.Arg176Gln)	Inborn genetic diseases [RCV004393699]	uncertain significance	8	101558661	101558661	Human	1	name
405757611	CV3262482	single nucleotide variant	NM_024915.4(GRHL2):c.630C>A (p.Ser210Arg)	Inborn genetic diseases [RCV004393700]	uncertain significance	8	101558764	101558764	Human	1	name
405757619	CV3262483	single nucleotide variant	NM_024915.4(GRHL2):c.752C>T (p.Thr251Ile)	Inborn genetic diseases [RCV004393701]	uncertain significance	8	101573685	101573685	Human	1	name
407463053	CV3433138	single nucleotide variant	NM_024915.4(GRHL2):c.392T>C (p.Leu131Pro)	Inborn genetic diseases [RCV004634725]	uncertain significance	8	101558526	101558526	Human	1	name
407463066	CV3433142	single nucleotide variant	NM_024915.4(GRHL2):c.545A>C (p.Gln182Pro)	Inborn genetic diseases [RCV004634729]	uncertain significance	8	101558679	101558679	Human	1	name
408373041	CV3513737	single nucleotide variant	NM_024915.4(GRHL2):c.868C>T (p.Arg290Ter)	GRHL2-related disorder [RCV004744112]	likely pathogenic	8	101573801	101573801	Human		name , trait , alternate_id
408371958	CV3517475	single nucleotide variant	NM_024915.4(GRHL2):c.727A>G (p.Thr243Ala)	GRHL2-related disorder [RCV004742094]	uncertain significance	8	101570387	101570387	Human		name , trait , alternate_id
597681039	CV3678525	single nucleotide variant	NM_024915.4(GRHL2):c.433G>C (p.Glu145Gln)	Inborn genetic diseases [RCV004982769]	uncertain significance	8	101558567	101558567	Human	1	name
597970733	CV3750538	single nucleotide variant	NM_024915.4(GRHL2):c.314G>A (p.Ser105Asn)	not provided [RCV005084282]	uncertain significance	8	101558448	101558448	Human		name
597911010	CV3778198	single nucleotide variant	NM_024915.4(GRHL2):c.949T>G (p.Trp317Gly)	not provided [RCV005128737]	uncertain significance	8	101577465	101577465	Human		name
597972219	CV3829521	single nucleotide variant	NM_024915.4(GRHL2):c.793G>C (p.Gly265Arg)	not provided [RCV005167308]	uncertain significance	8	101573726	101573726	Human		name
597897137	CV3834688	single nucleotide variant	NM_024915.4(GRHL2):c.392T>A (p.Leu131Gln)	not provided [RCV005180599]	uncertain significance	8	101558526	101558526	Human		name
597831944	CV3864004	single nucleotide variant	NM_024915.4(GRHL2):c.558C>G (p.Ile186Met)	Autosomal dominant nonsyndromic hearing loss 28 [RCV005208420]	uncertain significance	8	101558692	101558692	Human	1	name
598214964	CV3890772	single nucleotide variant	NM_024915.4(GRHL2):c.418A>G (p.Ser140Gly)	not provided [RCV005251625]	uncertain significance	8	101558552	101558552	Human		name
598237403	CV3893414	single nucleotide variant	NM_024915.4(GRHL2):c.500T>A (p.Phe167Tyr)	not provided [RCV005256147]	uncertain significance	8	101558634	101558634	Human		name
598187747	CV3967667	single nucleotide variant	NM_024915.4(GRHL2):c.631A>C (p.Thr211Pro)	Inborn genetic diseases [RCV005353730]	uncertain significance	8	101558765	101558765	Human	1	name
616937738	CV4014898	single nucleotide variant	NM_024915.4(GRHL2):c.812A>G (p.Asn271Ser)	not provided [RCV005411914]	uncertain significance	8	101573745	101573745	Human		name
13537443	CV497105	single nucleotide variant	NM_024915.4(GRHL2):c.319T>A (p.Leu107Met)	not specified [RCV000610408]	uncertain significance	8	101558453	101558453	Human		name
13541661	CV497106	single nucleotide variant	NM_024915.4(GRHL2):c.685C>T (p.Arg229Trp)	not provided [RCV002531134]\|not specified [RCV000616467]	uncertain significance	8	101570345	101570345	Human		name
8609078	CV55384	single nucleotide variant	NM_024915.4(GRHL2):c.373T>G (p.Ser125Ala)	not specified [RCV000039463]	likely benign	8	101558507	101558507	Human		name
8609080	CV55386	single nucleotide variant	NM_024915.4(GRHL2):c.689G>A (p.Ser230Asn)	not provided [RCV001582515]\|not specified [RCV000039465]	benign\|likely benign	8	101570349	101570349	Human		name
14704478	CV654500	single nucleotide variant	NM_024915.4(GRHL2):c.454G>A (p.Val152Met)	not provided [RCV001567535]\|not specified [RCV000825767]	likely benign\|conflicting interpretations of pathogenicity	8	101558588	101558588	Human		name
14704894	CV654501	single nucleotide variant	NM_024915.4(GRHL2):c.974A>C (p.His325Pro)	not specified [RCV000825932]	uncertain significance	8	101577490	101577490	Human		name
8632747	CV87962	single nucleotide variant	NM_024915.3(GRHL2):c.634C>T (p.Pro212Ser)	Malignant melanoma [RCV000068054]	not provided	8	101558768	101558768	Human		name
126910341	CV1053280	single nucleotide variant	NM_024915.4(GRHL2):c.1337G>A (p.Cys446Tyr)	Hearing impairment [RCV001375098]	uncertain significance	8	101631716	101631716	Human	2	name
150545481	CV1293822	single nucleotide variant	NM_024915.4(GRHL2):c.1547G>A (p.Arg516Gln)	not provided [RCV001763003]	uncertain significance	8	101644160	101644160	Human		name
150556040	CV1295417	single nucleotide variant	NM_024915.4(GRHL2):c.1783G>A (p.Asp595Asn)	not provided [RCV001773852]	uncertain significance	8	101666608	101666608	Human		name
151883365	CV1337823	single nucleotide variant	NM_024915.4(GRHL2):c.1123A>C (p.Ser375Arg)	not provided [RCV001962112]	uncertain significance	8	101619563	101619563	Human		name
151725998	CV1339592	single nucleotide variant	NM_024915.4(GRHL2):c.1568G>C (p.Gly523Ala)	not provided [RCV002004264]	uncertain significance	8	101644181	101644181	Human		name
151826141	CV1392224	single nucleotide variant	NM_024915.4(GRHL2):c.1202G>A (p.Arg401His)	Inborn genetic diseases [RCV004631778]\|not provided [RCV001879673]	uncertain significance	8	101619642	101619642	Human	1	name
151865184	CV1405989	single nucleotide variant	NM_024915.4(GRHL2):c.1826T>C (p.Leu609Pro)	not provided [RCV001959740]	uncertain significance	8	101666651	101666651	Human		name
9589538	CV166013	single nucleotide variant	NM_024915.4(GRHL2):c.1192T>C (p.Tyr398His)	Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome [RCV000144237]\|not provided [RCV001281606]	pathogenic\|likely pathogenic	8	101619632	101619632	Human	1	name
9589539	CV166014	single nucleotide variant	NM_024915.4(GRHL2):c.1445T>A (p.Ile482Lys)	Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome [RCV000144238]	pathogenic	8	101632325	101632325	Human	1	name
9687793	CV174393	single nucleotide variant	NM_024915.4(GRHL2):c.1690A>T (p.Met564Leu)	not provided [RCV001850052]\|not specified [RCV000150801]	uncertain significance	8	101649491	101649491	Human		name
155999361	CV1987080	single nucleotide variant	NM_024915.4(GRHL2):c.1574T>G (p.Val525Gly)	not provided [RCV002618374]	uncertain significance	8	101644187	101644187	Human		name
156358530	CV2020303	single nucleotide variant	NM_024915.4(GRHL2):c.1610G>A (p.Arg537Gln)	GRHL2-related disorder [RCV003403892]\|not provided [RCV002720702]	uncertain significance	8	101644223	101644223	Human		name , trait , alternate_id
155957535	CV2040235	single nucleotide variant	NM_024915.4(GRHL2):c.1692G>T (p.Met564Ile)	Inborn genetic diseases [RCV005343496]\|not provided [RCV002776095]	uncertain significance	8	101649493	101649493	Human	1	name
156163905	CV2045032	single nucleotide variant	NM_024915.4(GRHL2):c.1537C>T (p.Arg513Trp)	not provided [RCV002741644]	uncertain significance	8	101644150	101644150	Human		name
155974773	CV2211205	single nucleotide variant	NM_024915.4(GRHL2):c.1020C>A (p.Ser340Arg)	Inborn genetic diseases [RCV002687821]	uncertain significance	8	101599073	101599073	Human	1	name
156289274	CV2229893	single nucleotide variant	NM_024915.4(GRHL2):c.1111G>A (p.Val371Met)	Inborn genetic diseases [RCV002747647]	uncertain significance	8	101619551	101619551	Human	1	name
11096111	CV229619	single nucleotide variant	NM_024915.4(GRHL2):c.1348T>A (p.Ser450Thr)	Inborn genetic diseases [RCV002517469]\|not provided [RCV001853411]\|not specified [RCV000223159]	likely benign\|uncertain significance	8	101632228	101632228	Human	1	name
155904021	CV2298730	single nucleotide variant	NM_024915.4(GRHL2):c.1810G>A (p.Glu604Lys)	Inborn genetic diseases [RCV002901506]	uncertain significance	8	101666635	101666635	Human	1	name
155916889	CV2366775	single nucleotide variant	NM_024915.4(GRHL2):c.1858G>A (p.Val620Ile)	Inborn genetic diseases [RCV003012718]	likely benign	8	101666683	101666683	Human	1	name
329394765	CV2472934	single nucleotide variant	NM_024915.4(GRHL2):c.1389T>A (p.Ser463Arg)	not provided [RCV003218917]	uncertain significance	8	101632269	101632269	Human		name
401728134	CV2675971	single nucleotide variant	NM_024915.4(GRHL2):c.1321G>C (p.Ala441Pro)	Inborn genetic diseases [RCV003247323]	uncertain significance	8	101631700	101631700	Human	1	name
11640373	CV269770	single nucleotide variant	NM_024915.4(GRHL2):c.1499C>A (p.Thr500Lys)	not provided [RCV000336699]	uncertain significance	8	101636910	101636910	Human		name
401765939	CV2717943	single nucleotide variant	NM_024915.4(GRHL2):c.1599A>C (p.Glu533Asp)	Inborn genetic diseases [RCV003282410]	uncertain significance	8	101644212	101644212	Human	1	name
401891266	CV2779288	single nucleotide variant	NM_024915.4(GRHL2):c.1523G>C (p.Ser508Thr)	Inborn genetic diseases [RCV003369381]	uncertain significance	8	101644136	101644136	Human	1	name
402499097	CV2922808	single nucleotide variant	NM_024915.4(GRHL2):c.1042G>A (p.Glu348Lys)	not provided [RCV003573805]	uncertain significance	8	101599095	101599095	Human		name
402521290	CV2940147	single nucleotide variant	NM_024915.4(GRHL2):c.1011C>G (p.Tyr337Ter)	not provided [RCV003663324]	pathogenic	8	101599064	101599064	Human		name
405095697	CV2944047	single nucleotide variant	NM_024915.4(GRHL2):c.1862C>T (p.Thr621Met)	not provided [RCV003665627]	uncertain significance	8	101666687	101666687	Human		name
405168004	CV2950975	single nucleotide variant	NM_024915.4(GRHL2):c.1705G>C (p.Glu569Gln)	not provided [RCV003675187]	uncertain significance	8	101664460	101664460	Human		name
405230926	CV2964511	single nucleotide variant	NM_024915.4(GRHL2):c.1542G>A (p.Met514Ile)	not provided [RCV003682240]	uncertain significance	8	101644155	101644155	Human		name
405210494	CV2970598	single nucleotide variant	NM_024915.4(GRHL2):c.1105A>G (p.Ile369Val)	not provided [RCV003679324]	uncertain significance	8	101619545	101619545	Human		name
405129911	CV3010847	single nucleotide variant	NM_024915.4(GRHL2):c.1843G>A (p.Val615Met)	not provided [RCV003701580]	uncertain significance	8	101666668	101666668	Human		name
405092819	CV3045501	single nucleotide variant	NM_024915.4(GRHL2):c.1538G>A (p.Arg513Gln)	Inborn genetic diseases [RCV005335871]\|not provided [RCV003717941]	uncertain significance	8	101644151	101644151	Human	1	name
405137603	CV3125388	single nucleotide variant	NM_024915.4(GRHL2):c.1841T>G (p.Met614Arg)	Inborn genetic diseases [RCV004981040]\|not provided [RCV003816495]	uncertain significance	8	101666666	101666666	Human	1	name
405185779	CV3149003	single nucleotide variant	NM_024915.4(GRHL2):c.1276C>T (p.Arg426Ter)	not provided [RCV003842925]	pathogenic	8	101631655	101631655	Human		name
405700625	CV3224968	single nucleotide variant	NM_024915.4(GRHL2):c.1214C>A (p.Pro405His)	Corneal dystrophy, posterior polymorphous, 4 [RCV003989252]	uncertain significance	8	101619654	101619654	Human	1	name
405757599	CV3262480	single nucleotide variant	NM_024915.4(GRHL2):c.1094C>T (p.Ala365Val)	Inborn genetic diseases [RCV004393698]	uncertain significance	8	101599147	101599147	Human	1	name
407457471	CV3416168	single nucleotide variant	NM_024915.4(GRHL2):c.1216A>G (p.Ile406Val)	not provided [RCV004599046]	uncertain significance	8	101619656	101619656	Human		name
407574573	CV3499584	single nucleotide variant	NM_024915.4(GRHL2):c.1334A>G (p.Gln445Arg)	not provided [RCV004719580]	uncertain significance	8	101631713	101631713	Human		name
597681028	CV3678523	single nucleotide variant	NM_024915.4(GRHL2):c.1039A>G (p.Ile347Val)	Inborn genetic diseases [RCV004982767]	uncertain significance	8	101599092	101599092	Human	1	name
597683981	CV3678527	single nucleotide variant	NM_024915.4(GRHL2):c.1568G>A (p.Gly523Asp)	Inborn genetic diseases [RCV004983774]	uncertain significance	8	101644181	101644181	Human	1	name
597683988	CV3678528	single nucleotide variant	NM_024915.4(GRHL2):c.1349C>T (p.Ser450Phe)	Inborn genetic diseases [RCV004983775]\|not provided [RCV005110326]	uncertain significance	8	101632229	101632229	Human	1	name
597721628	CV3733777	single nucleotide variant	NM_024915.4(GRHL2):c.1318C>T (p.Gln440Ter)	Autosomal dominant nonsyndromic hearing loss 28 [RCV005053082]	likely pathogenic	8	101631697	101631697	Human	1	name
597858047	CV3748225	single nucleotide variant	NM_024915.4(GRHL2):c.1490A>G (p.Tyr497Cys)	not provided [RCV005067047]	uncertain significance	8	101636901	101636901	Human		name
597924660	CV3778051	single nucleotide variant	NM_024915.4(GRHL2):c.1862C>A (p.Thr621Lys)	not provided [RCV005130775]	uncertain significance	8	101666687	101666687	Human		name
597869000	CV3784027	single nucleotide variant	NM_024915.4(GRHL2):c.1520G>A (p.Gly507Asp)	not provided [RCV005122331]	uncertain significance	8	101644133	101644133	Human		name
597883269	CV3834153	single nucleotide variant	NM_024915.4(GRHL2):c.1609C>T (p.Arg537Ter)	not provided [RCV005178472]	pathogenic	8	101644222	101644222	Human		name
597872010	CV3849421	single nucleotide variant	NM_024915.4(GRHL2):c.1028C>T (p.Thr343Met)	not provided [RCV005197602]	uncertain significance	8	101599081	101599081	Human		name
598187752	CV3967668	single nucleotide variant	NM_024915.4(GRHL2):c.1691T>A (p.Met564Lys)	Inborn genetic diseases [RCV005353731]	uncertain significance	8	101649492	101649492	Human	1	name
616938092	CV4013895	single nucleotide variant	NM_024915.4(GRHL2):c.1511G>A (p.Arg504Gln)	Corneal dystrophy, posterior polymorphous, 4 [RCV005413387]	uncertain significance	8	101636922	101636922	Human	1	name
616939148	CV4015478	single nucleotide variant	NM_024915.4(GRHL2):c.1486G>A (p.Val496Met)	not provided [RCV005412990]	uncertain significance	8	101636897	101636897	Human		name
13526331	CV497107	single nucleotide variant	NM_024915.4(GRHL2):c.1081G>A (p.Val361Met)	Autosomal dominant nonsyndromic hearing loss 28 [RCV004788032]\|not provided [RCV005422863]\|not specified [RCV000604007]	uncertain significance	8	101599134	101599134	Human	1	name
8609074	CV55380	single nucleotide variant	NM_024915.4(GRHL2):c.1243G>A (p.Val415Ile)	not provided [RCV002054763]\|not specified [RCV000039459]	benign	8	101619683	101619683	Human		name
8609075	CV55381	single nucleotide variant	NM_024915.4(GRHL2):c.1723G>A (p.Val575Met)	Autosomal dominant nonsyndromic hearing loss 28 [RCV002477111]\|Inborn genetic diseases [RCV002513546]\|not provided [RCV001527340]\|not specified [RCV000039460]	uncertain significance	8	101664478	101664478	Human	2	name
13836117	CV587386	single nucleotide variant	NM_024915.4(GRHL2):c.1376T>C (p.Leu459Ser)	not provided [RCV000732118]	uncertain significance	8	101632256	101632256	Human		name
14396115	CV611686	single nucleotide variant	NM_024915.4(GRHL2):c.1264G>T (p.Glu422Ter)	not provided [RCV000760848]	likely pathogenic	8	101631643	101631643	Human		name
14703664	CV654502	single nucleotide variant	NM_024915.4(GRHL2):c.1546C>T (p.Arg516Trp)	not specified [RCV000825346]	uncertain significance	8	101644159	101644159	Human		name
8632748	CV87963	single nucleotide variant	NM_024915.3(GRHL2):c.1067C>T (p.Ser356Phe)	Malignant melanoma [RCV000068055]	not provided	8	101599120	101599120	Human		name
402492327	CV2981227	duplication	NM_024915.4(GRHL2):c.936_945dup (p.Tyr316fs)	not provided [RCV003713897]	pathogenic	8	101577450	101577451	Human		name
405226292	CV3142500	microsatellite	NM_024915.4(GRHL2):c.326GAG[1] (p.Gly110del)	not provided [RCV003848039]	uncertain significance	8	101558459	101558461	Human		name
597961101	CV3794820	deletion	NM_024915.4(GRHL2):c.925_926del (p.Asn309fs)	not provided [RCV005138725]	pathogenic	8	101577438	101577439	Human		name
155732800	CV1781051	microsatellite	NM_024915.4(GRHL2):c.1784ACA[1] (p.Asn596del)	not provided [RCV002308839]	uncertain significance	8	101666609	101666611	Human		name
408387529	CV3518883	duplication	NM_024915.4(GRHL2):c.1732_1735dup (p.Ala579fs)	not provided [RCV004761202]	uncertain significance	8	101664484	101664485	Human		name
28885668	CV859639	deletion	NM_024915.4(GRHL2):c.975_986del (p.His325_Lys328del)	not provided [RCV001091698]	uncertain significance	8	101577487	101577498	Human		name

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message