GRHL2

grainyhead like transcription factor 2

Summary

The protein encoded by this gene is a transcription factor that can act as a homodimer or as a heterodimer with either GRHL1 or GRHL3. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal dominant type 28 (DFNA28).[provided by RefSeq, Mar 2009]

Known Variants214 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs611419	8:102,503,717	T/G	—	—
rs541226	8:102,504,511	G/A	—	benign
rs541154	8:102,504,541	C/T	—	benign
rs141699759	8:102,504,791	C/T	—	likely benign
rs515622	8:102,504,974	C/G	—	benign
rs1306822032	8:102,504,975	G/C	—	likely benign
rs1809990595	8:102,504,994	A/T	—	uncertain significance
rs1554579878	8:102,505,561	G/T	—	pathogenic
rs114871790	8:102,505,691	C/G	—	benign
rs581752	8:102,505,705	A/G	—	benign
rs150239237	8:102,505,789	C/T	—	benign
rs10955255	8:102,536,405	A/T	—	—
rs6984360	8:102,555,301	A/G	—	benign
rs73701923	8:102,555,445	C/T	—	likely benign
rs200212977	8:102,555,465	A/G	—	likely benign
rs1811191593	8:102,555,467	A/G	—	conflicting classifications of pathogenicity
rs2536796557	8:102,555,468	G/A	—	likely pathogenic
rs3735709	8:102,555,474	G/A	—	benign
rs749906501	8:102,555,482	G/T	—	uncertain significance
rs760997445	8:102,555,498	T/A	—	uncertain significance
rs778497540	8:102,555,517	C/G	—	uncertain significance
rs750332552	8:102,555,525	G/A	—	uncertain significance
rs779951984	8:102,555,529	A/G	—	likely benign
rs561693958	8:102,555,531	C/G	—	uncertain significance
rs780810033	8:102,555,535	C/T	—	likely benign
rs993904280	8:102,555,584	G/A	—	uncertain significance
rs1440566501	8:102,555,641	G/A	—	uncertain significance
rs376505205	8:102,555,672	C/T	—	likely benign
rs75832357	8:102,555,757	G/A	—	benign
rs111642558	8:102,555,893	A/G	—	benign
rs113798475	8:102,564,885	T/C	—	likely benign
rs2536814870	8:102,564,949	C/T	—	pathogenic
rs747466435	8:102,564,980	C/T	—	uncertain significance
rs2536815013	8:102,564,982	A/G	—	uncertain significance
rs2536815065	8:102,564,989	G/A	—	uncertain significance
rs79138916	8:102,570,399	T/G	—	benign
rs6981104	8:102,570,479	T/G	—	benign
rs200781848	8:102,570,633	G/A	—	uncertain significance
rs781762121	8:102,570,660	A/C	—	uncertain significance
rs140106332	8:102,570,665	T/A	—	conflicting classifications of pathogenicity
rs1048525846	8:102,570,681	T/A	—	uncertain significance
rs1672508639	8:102,570,727	T/G	—	uncertain significance
rs145518215	8:102,570,735	T/G	—	likely benign
rs764979598	8:102,570,768	C/T	—	uncertain significance
rs768143303	8:102,570,779	C/T	—	likely benign
rs759236330	8:102,570,791	C/G	—	uncertain significance
rs756526962	8:102,570,794	C/T	—	likely benign
rs2130176157	8:102,570,799	G/A	—	uncertain significance
rs2130176200	8:102,570,804	G/A	—	uncertain significance
rs727504883	8:102,570,811	T/G	—	uncertain significance
rs147703146	8:102,570,816	G/A	—	conflicting classifications of pathogenicity
rs757542366	8:102,570,883	A/G	—	uncertain significance
rs772933548	8:102,570,889	G/A	—	uncertain significance
rs200674096	8:102,570,905	G/A	—	likely benign
rs142411476	8:102,570,910	G/A	—	uncertain significance
rs1158196831	8:102,570,954	G/A	—	uncertain significance
rs371212649	8:102,570,958	C/A	—	uncertain significance
rs1241773797	8:102,570,981	G/T	—	uncertain significance
rs1811541408	8:102,570,992	C/A	—	uncertain significance
rs548008385	8:102,570,999	G/A	—	uncertain significance
rs199931364	8:102,571,003	G/A	—	uncertain significance
rs34332949	8:102,571,013	C/T	—	benign
rs2536826014	8:102,571,031	A/G	—	likely benign
rs758685132	8:102,571,035	A/G	—	likely benign
rs780311020	8:102,571,047	C/T	—	likely benign
rs771558300	8:102,582,549	A/T	—	likely benign
rs368059598	8:102,582,563	G/T	—	likely benign
rs766515922	8:102,582,573	C/T	—	uncertain significance
rs545333440	8:102,582,574	G/A	—	uncertain significance
rs140423160	8:102,582,577	G/A	—	likely benign
rs113751811	8:102,582,868	C/A	—	likely benign
rs62519117	8:102,582,875	A/C	—	benign
rs548564	8:102,585,806	A/G	—	benign
rs779623350	8:102,585,913	C/T	—	uncertain significance
rs567898885	8:102,585,914	C/T	—	likely benign
rs923030287	8:102,585,936	C/T	—	uncertain significance
rs200976297	8:102,585,937	G/A	—	uncertain significance
rs2536850950	8:102,585,949	G/C	—	uncertain significance
rs1064797348	8:102,585,962	—	—	pathogenic
rs55682875	8:102,585,965	C/T	—	conflicting classifications of pathogenicity
rs760857170	8:102,585,977	A/G	—	likely benign
rs1232215185	8:102,585,991	C/A	—	uncertain significance
rs138628340	8:102,586,010	C/T	—	likely benign
rs16867839	8:102,586,349	A/G	—	benign
rs111559404	8:102,589,618	C/G	—	uncertain significance
rs933729616	8:102,589,620	A/G	—	likely benign
rs1811955253	8:102,589,645	A/T	—	uncertain significance
rs376663921	8:102,589,658	G/T	—	uncertain significance
rs1586112160	8:102,589,718	A/C	—	uncertain significance
rs773319502	8:102,589,724	C/T	—	uncertain significance
rs368774126	8:102,589,725	G/A	—	likely benign
rs200745936	8:102,589,731	G/A	—	conflicting classifications of pathogenicity
rs751418244	8:102,589,750	A/G	—	uncertain significance
rs377516464	8:102,589,759	T/C	—	likely benign
rs3735711	8:102,589,939	T/C	—	benign
rs185375766	8:102,611,189	G/A	—	likely benign
rs2536894969	8:102,611,283	A/C	—	likely pathogenic
rs2536894997	8:102,611,292	C/G	—	pathogenic
rs536807009	8:102,611,301	C/A	—	uncertain significance
rs767022758	8:102,611,310	G/A	—	likely benign

Showing 100 of 214 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.