ARL6

ARF like GTPase 6

Summary

The protein encoded by this gene belongs to the ARF-like (ADP ribosylation factor-like) sub-family of the ARF family of GTP-binding proteins which are involved in regulation of intracellular traffic. Mutations in this gene are associated with Bardet-Biedl syndrome (BBS). A vision-specific transcript, encoding long isoform BBS3L, has been described (PMID: 20333246). [provided by RefSeq, Apr 2016]

Known Variants204 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs536935620	3:97,483,533	C/T	—	uncertain significance
rs754624462	3:97,483,537	A/G	—	uncertain significance
rs116162146	3:97,483,609	C/T	—	likely benign
rs189005414	3:97,483,642	G/A	—	uncertain significance
rs886058937	3:97,483,703	T/C	—	uncertain significance
rs192372191	3:97,483,712	A/C	—	uncertain significance
rs777066573	3:97,483,778	C/G	—	uncertain significance
rs143739859	3:97,485,464	A/T	—	conflicting classifications of pathogenicity
rs745854688	3:97,486,922	C/T	—	uncertain significance
rs2107977736	3:97,486,952	A/G	—	pathogenic
rs771628868	3:97,486,955	G/T	—	pathogenic
rs751957701	3:97,486,968	G/A	—	uncertain significance
rs776814564	3:97,486,975	A/C	—	likely benign
rs2529766059	3:97,486,979	T/C	—	likely benign
rs2036471593	3:97,486,980	T/A	—	likely pathogenic
rs963216166	3:97,486,981	G/C	—	uncertain significance
rs753656245	3:97,486,984	T/A	—	likely benign
rs535835888	3:97,486,994	A/G	—	uncertain significance
rs201736026	3:97,487,000	G/A	—	uncertain significance
rs1559668134	3:97,487,003	G/A	—	uncertain significance
rs2529766648	3:97,487,012	T/C	—	likely benign
rs369665795	3:97,487,014	G/A	—	likely benign
rs2529766743	3:97,487,017	C/A	—	pathogenic
rs1282560467	3:97,487,022	G/A	—	uncertain significance
rs2036474751	3:97,487,026	A/G	—	likely benign
rs754773104	3:97,487,027	G/T	—	uncertain significance
rs2036475086	3:97,487,032	T/C	—	likely benign
rs104893680	3:97,487,043	C/T	missense variant	pathogenic
rs778479091	3:97,487,044	G/A	—	likely benign
rs771538955	3:97,487,047	G/A	—	likely benign
rs2036476218	3:97,487,049	T/C	—	uncertain significance
rs772756275	3:97,487,050	C/T	—	likely benign
rs2529767379	3:97,487,058	A/G	—	uncertain significance
rs746549147	3:97,487,060	C/G	—	uncertain significance
rs1405939085	3:97,487,069	T/G	—	uncertain significance
rs201618364	3:97,487,072	A/G	—	uncertain significance
rs1488740103	3:97,487,073	A/G	—	uncertain significance
rs1195519595	3:97,487,075	G/A	—	likely pathogenic
rs1160990873	3:97,487,086	T/C	—	likely benign
rs751646756	3:97,487,093	T/G	—	likely benign
rs1567058	3:97,487,239	C/T	—	benign
rs547284663	3:97,498,983	C/G	—	likely benign
rs2529887874	3:97,498,986	T/C	—	likely benign
rs2529887897	3:97,498,987	G/T	—	likely benign
rs2529887933	3:97,498,990	T/G	—	likely benign
rs2037117906	3:97,499,005	T/G	—	likely benign
rs754763072	3:97,499,006	C/T	—	pathogenic
rs1233384287	3:97,499,008	A/G	—	likely benign
rs757995078	3:97,499,019	T/A	—	uncertain significance
rs1035888607	3:97,499,020	C/T	—	likely benign
rs895572972	3:97,499,022	T/A	—	uncertain significance
rs570616502	3:97,499,026	A/T	—	likely benign
rs1446627916	3:97,499,029	A/C	—	likely benign
rs371013474	3:97,499,031	T/C	—	uncertain significance
rs770485234	3:97,499,032	A/C	—	likely benign
rs2108031980	3:97,499,045	G/C	—	uncertain significance
rs1295586318	3:97,499,047	G/C	—	uncertain significance
rs1559679965	3:97,499,065	G/C	—	pathogenic
rs373119013	3:97,499,071	C/A	—	likely benign
rs768962345	3:97,499,073	C/T	—	likely benign
rs1405588824	3:97,499,079	C/T	—	likely benign
rs2037123584	3:97,499,080	C/T	—	likely benign
rs77906443	3:97,499,441	T/C	—	benign
rs370656150	3:97,499,448	T/G	—	conflicting classifications of pathogenicity
rs1175205278	3:97,499,454	T/G	—	likely benign
rs2529895361	3:97,499,461	T/A	—	pathogenic
rs140114162	3:97,499,465	A/G	—	likely benign
rs150667690	3:97,499,470	C/T	—	uncertain significance
rs2108034087	3:97,499,474	G/C	—	likely benign
rs1025244924	3:97,499,480	C/T	—	likely benign
rs2529895836	3:97,499,486	A/T	—	likely benign
rs2529895913	3:97,499,488	G/C	—	uncertain significance
rs2529896043	3:97,499,494	G/A	—	uncertain significance
rs749599192	3:97,499,499	T/C	—	uncertain significance
rs2037147164	3:97,499,501	C/G	—	pathogenic
rs774422821	3:97,499,508	C/T	—	uncertain significance
rs888140182	3:97,499,522	T/A	—	likely pathogenic
rs2529896796	3:97,499,525	T/G	—	pathogenic
rs2529896839	3:97,499,528	G/A	—	likely pathogenic
rs2529896944	3:97,499,534	A/G	—	likely benign
rs772021931	3:97,499,535	C/T	—	likely benign
rs773293069	3:97,499,536	A/C	—	likely benign
rs367959480	3:97,499,539	T/A	—	likely benign
rs2037150339	3:97,499,540	G/A	—	likely benign
rs10935082	3:97,499,654	T/A	—	benign
rs9854857	3:97,499,729	C/T	—	benign
rs570260290	3:97,500,898	G/A	—	uncertain significance
rs138194402	3:97,503,750	G/A	—	likely benign
rs2037376159	3:97,503,782	T/G	—	likely benign
rs749869845	3:97,503,783	T/C	—	likely benign
rs2037376467	3:97,503,784	C/A	—	likely benign
rs2037377118	3:97,503,789	C/T	—	likely benign
rs1336984992	3:97,503,793	A/T	—	likely benign
rs2529939402	3:97,503,794	C/T	—	likely benign
rs2529939513	3:97,503,797	A/T	—	pathogenic
rs779384199	3:97,503,799	A/G	—	conflicting classifications of pathogenicity
rs2529939705	3:97,503,805	C/G	—	likely benign
rs2529939726	3:97,503,806	C/T	—	pathogenic
rs587777805	3:97,503,810	C/G	missense variant	uncertain significance
rs1450027825	3:97,503,811	T/A	—	likely benign

Showing 100 of 204 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.