ROR2

receptor tyrosine kinase like orphan receptor 2

Summary

The protein encoded by this gene is a receptor protein tyrosine kinase and type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development. Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. [provided by RefSeq, Jul 2008]

Known Variants614 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1135169	9:94,484,928	A/C	—	benign
rs150568265	9:94,485,017	G/A	—	likely benign
rs114078962	9:94,485,058	C/A	—	benign
rs548573232	9:94,485,178	A/G	—	likely benign
rs73654047	9:94,485,208	T/C	—	likely benign
rs1135150	9:94,485,232	A/G	—	benign
rs1057515678	9:94,485,262	G/C	—	uncertain significance
rs1836854224	9:94,485,373	C/G	—	uncertain significance
rs571058325	9:94,485,386	G/A	—	uncertain significance
rs769673512	9:94,485,391	C/T	—	uncertain significance
rs147339603	9:94,485,423	C/T	—	likely benign
rs367760102	9:94,485,424	G/A	—	conflicting classifications of pathogenicity
rs970063320	9:94,485,457	G/C	—	uncertain significance
rs919431237	9:94,485,511	G/A	—	uncertain significance
rs941756148	9:94,485,546	C/G	—	uncertain significance
rs555728388	9:94,485,575	C/G	—	uncertain significance
rs77664658	9:94,485,699	T/C	—	likely benign
rs75004227	9:94,485,715	G/A	—	likely benign
rs542396423	9:94,485,764	G/T	—	uncertain significance
rs774621355	9:94,485,809	C/A	—	uncertain significance
rs1836869944	9:94,485,819	G/T	—	uncertain significance
rs189697737	9:94,485,837	C/G	—	uncertain significance
rs531108921	9:94,485,838	G/A	—	conflicting classifications of pathogenicity
rs759105926	9:94,485,898	G/A	—	uncertain significance
rs367597436	9:94,485,906	C/T	—	uncertain significance
rs2230578	9:94,485,928	T/C	—	benign
rs199840505	9:94,485,948	G/T	—	uncertain significance
rs113793278	9:94,485,956	C/G	—	uncertain significance
rs771882038	9:94,485,970	C/T	—	benign
rs41277835	9:94,485,971	G/C	—	conflicting classifications of pathogenicity
rs1180786358	9:94,485,987	T/A	—	uncertain significance
rs750609013	9:94,485,991	A/G	—	uncertain significance
rs199855010	9:94,485,994	C/T	—	uncertain significance
rs766605383	9:94,486,006	C/G	—	uncertain significance
rs755155776	9:94,486,019	A/G	—	likely benign
rs1057029126	9:94,486,029	T/G	—	uncertain significance
rs1439454538	9:94,486,045	C/T	—	uncertain significance
rs2490100497	9:94,486,047	T/C	—	uncertain significance
rs56091954	9:94,486,049	C/T	—	benign
rs778811682	9:94,486,051	C/T	—	uncertain significance
rs374824850	9:94,486,052	G/A	—	likely benign
rs779855786	9:94,486,063	C/G	—	uncertain significance
rs1441274206	9:94,486,067	A/G	—	likely benign
rs202213533	9:94,486,078	C/T	—	conflicting classifications of pathogenicity
rs141070315	9:94,486,082	C/G	—	conflicting classifications of pathogenicity
rs2490101344	9:94,486,083	T/C	—	uncertain significance
rs149826387	9:94,486,092	T/C	—	conflicting classifications of pathogenicity
rs146866887	9:94,486,094	A/C	—	likely benign
rs373037095	9:94,486,127	C/T	—	conflicting classifications of pathogenicity
rs200296562	9:94,486,131	G/C	—	uncertain significance
rs200970033	9:94,486,143	G/T	—	uncertain significance
rs1836888050	9:94,486,144	G/C	—	uncertain significance
rs369201767	9:94,486,148	C/T	—	conflicting classifications of pathogenicity
rs780709405	9:94,486,149	G/A	—	uncertain significance
rs200867550	9:94,486,156	C/T	—	benign
rs751280391	9:94,486,163	T/G	—	likely benign
rs369150056	9:94,486,172	G/A	—	likely benign
rs1564226908	9:94,486,179	C/G	—	uncertain significance
rs56158629	9:94,486,190	G/A	—	likely benign
rs1564226947	9:94,486,194	G/A	—	uncertain significance
rs1190165377	9:94,486,220	A/C	—	likely benign
rs1424299048	9:94,486,226	C/G	—	uncertain significance
rs1411243993	9:94,486,227	T/A	—	uncertain significance
rs754605230	9:94,486,232	C/T	—	likely benign
rs1280968883	9:94,486,253	C/G	—	uncertain significance
rs771461100	9:94,486,255	G/C	—	uncertain significance
rs373575567	9:94,486,259	C/G	—	uncertain significance
rs775640546	9:94,486,287	T/C	—	uncertain significance
rs760794107	9:94,486,291	C/T	—	uncertain significance
rs764317522	9:94,486,292	C/T	—	likely benign
rs1391531897	9:94,486,297	C/A	—	uncertain significance
rs145213893	9:94,486,298	C/T	—	likely benign
rs1016479276	9:94,486,299	G/T	—	uncertain significance
rs753371692	9:94,486,309	C/T	—	uncertain significance
rs146432734	9:94,486,310	G/A	—	likely benign
rs149056068	9:94,486,315	C/T	—	conflicting classifications of pathogenicity
rs780298605	9:94,486,316	G/A	—	likely benign
rs1253369894	9:94,486,318	G/C	—	uncertain significance
rs10761129	9:94,486,321	C/T	missense variant	benign
rs148220610	9:94,486,322	G/A	—	likely benign
rs200396791	9:94,486,325	G/A	—	likely benign
rs2490105675	9:94,486,329	T/C	—	uncertain significance
rs1172192855	9:94,486,330	G/T	—	uncertain significance
rs202010959	9:94,486,331	C/T	—	conflicting classifications of pathogenicity
rs770921333	9:94,486,332	G/A	—	conflicting classifications of pathogenicity
rs185808139	9:94,486,334	C/T	—	likely benign
rs2490106048	9:94,486,346	G/C	—	likely benign
rs2490106060	9:94,486,347	G/A	—	uncertain significance
rs1331048394	9:94,486,348	G/T	—	uncertain significance
rs376416766	9:94,486,352	G/A	—	conflicting classifications of pathogenicity
rs2118610452	9:94,486,361	C/T	—	likely benign
rs753279278	9:94,486,365	A/G	—	uncertain significance
rs758757733	9:94,486,377	T/G	—	benign
rs141235720	9:94,486,381	G/A	—	conflicting classifications of pathogenicity
rs1189987776	9:94,486,388	G/A	—	likely benign
rs532042443	9:94,486,394	C/T	—	conflicting classifications of pathogenicity
rs374141378	9:94,486,395	G/A	—	uncertain significance
rs774317100	9:94,486,398	G/A	—	uncertain significance
rs1037636706	9:94,486,402	T/C	—	uncertain significance
rs1219060338	9:94,486,417	C/T	—	uncertain significance

Showing 100 of 614 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.