ADAMTS13

ADAM metallopeptidase with thrombospondin type 1 motif 13

Summary

This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Known Variants699 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs141547732	9:136,280,025	G/A	missense variant	—
rs138357706	9:136,281,479	A/G	intron variant	—
rs587751866	9:136,285,007	C/T	—	—
rs34785487	9:136,286,881	G/A	—	benign
rs34265876	9:136,287,207	C/T	—	likely benign
rs777585429	9:136,287,284	G/A	—	uncertain significance
rs36218240	9:136,287,396	C/T	—	likely benign
rs587712950	9:136,287,409	C/T	—	uncertain significance
rs587771364	9:136,287,512	C/G	—	uncertain significance
rs372036592	9:136,287,538	C/T	—	uncertain significance
rs782204201	9:136,287,573	C/T	—	uncertain significance
rs77985067	9:136,287,578	C/T	—	conflicting classifications of pathogenicity
rs34024143	9:136,287,582	T/C	—	likely benign
rs782744929	9:136,287,583	G/A	—	uncertain significance
rs1446552024	9:136,287,597	C/T	—	uncertain significance
rs1554783636	9:136,287,612	G/A	—	uncertain significance
rs782561010	9:136,287,618	C/T	—	uncertain significance
rs142293909	9:136,287,621	G/A	—	conflicting classifications of pathogenicity
rs2130769073	9:136,287,647	G/A	—	likely pathogenic
rs1840019690	9:136,287,648	G/T	—	pathogenic
rs2491040855	9:136,287,679	T/C	—	likely benign
rs782172228	9:136,287,688	C/T	—	likely benign
rs146394542	9:136,288,250	C/T	—	likely benign
rs201522226	9:136,288,251	G/A	—	uncertain significance
rs7872815	9:136,289,230	C/G	—	benign
rs7031011	9:136,289,292	A/G	—	benign
rs2285489	9:136,289,374	T/C	intron variant	benign
rs35194094	9:136,289,393	G/A	—	benign
rs35410697	9:136,289,423	C/T	—	benign
rs377683598	9:136,289,434	C/A	—	likely benign
rs781795441	9:136,289,435	C/G	—	likely benign
rs139735640	9:136,289,443	C/T	—	likely benign
rs370929256	9:136,289,444	G/A	—	uncertain significance
rs782677352	9:136,289,447	C/T	—	uncertain significance
rs375370257	9:136,289,453	C/T	—	uncertain significance
rs2491058298	9:136,289,474	G/A	—	uncertain significance
rs367627378	9:136,289,499	C/T	—	conflicting classifications of pathogenicity
rs281875297	9:136,289,505	C/G	—	not provided
rs148644959	9:136,289,509	C/T	—	uncertain significance
rs281875302	9:136,289,530	G/A	—	conflicting classifications of pathogenicity
rs756898709	9:136,289,538	C/T	—	conflicting classifications of pathogenicity
rs121908467	9:136,289,554	C/G	missense variant	pathogenic
rs781788692	9:136,289,558	A/G	—	uncertain significance
rs2491059583	9:136,289,563	G/A	—	uncertain significance
rs782483941	9:136,289,565	C/T	—	likely benign
rs121908469	9:136,289,572	C/T	missense variant	pathogenic
rs782716712	9:136,289,573	G/A	—	likely pathogenic
rs142107133	9:136,289,598	C/T	—	uncertain significance
rs375415632	9:136,289,599	G/A	—	pathogenic
rs1474290508	9:136,289,600	T/C	—	likely pathogenic
rs368684532	9:136,289,606	C/T	—	uncertain significance
rs2491060239	9:136,289,608	C/T	—	likely benign
rs782397762	9:136,289,611	C/G	—	likely benign
rs151195287	9:136,290,154	G/T	intron variant	—
rs587620599	9:136,290,535	T/C	—	—
rs2301611	9:136,290,607	T/C	—	benign
rs372281376	9:136,290,638	C/T	—	likely benign
rs2491069718	9:136,290,641	T/C	—	likely benign
rs786205078	9:136,290,648	G/A	—	pathogenic
rs1840222738	9:136,290,649	G/A	—	uncertain significance
rs1840223153	9:136,290,653	C/G	—	uncertain significance
rs782209298	9:136,290,664	C/T	—	uncertain significance
rs781983991	9:136,290,669	C/T	—	likely benign
rs28571612	9:136,290,672	G/A	—	likely benign
rs281875291	9:136,290,674	C/T	—	likely pathogenic
rs147563206	9:136,290,675	C/T	—	benign
rs587701622	9:136,290,691	C/T	—	uncertain significance
rs142237685	9:136,290,724	G/A	—	conflicting classifications of pathogenicity
rs2491070821	9:136,290,725	A/G	—	uncertain significance
rs786205077	9:136,290,733	G/A	—	pathogenic
rs781838272	9:136,290,750	A/G	—	likely benign
rs1840229906	9:136,290,752	T/A	—	likely benign
rs782095146	9:136,291,038	G/A	—	likely benign
rs200230025	9:136,291,053	C/T	—	conflicting classifications of pathogenicity
rs1554785114	9:136,291,057	G/A	—	likely pathogenic
rs3118667	9:136,291,063	C/T	synonymous variant	benign
rs2491075140	9:136,291,067	A/C	—	uncertain significance
rs145175796	9:136,291,070	A/G	—	conflicting classifications of pathogenicity
rs149175416	9:136,291,078	C/A	—	likely benign
rs888709549	9:136,291,079	A/T	—	uncertain significance
rs796166629	9:136,291,090	G/A	—	likely benign
rs782180043	9:136,291,102	C/T	—	likely benign
rs369026148	9:136,291,103	G/A	—	uncertain significance
rs141932927	9:136,291,143	C/T	—	likely benign
rs587636999	9:136,291,144	G/A	—	likely benign
rs281875289	9:136,291,176	T/C	—	not provided
rs782661001	9:136,291,188	C/T	—	conflicting classifications of pathogenicity
rs184864675	9:136,291,189	G/A	—	conflicting classifications of pathogenicity
rs36218903	9:136,291,286	G/A	—	benign
rs2491078413	9:136,291,308	C/G	—	likely benign
rs782709084	9:136,291,310	C/T	—	likely benign
rs781839910	9:136,291,315	C/T	—	likely benign
rs886063631	9:136,291,316	G/A	—	uncertain significance
rs1564409613	9:136,291,319	G/T	—	uncertain significance
rs148849381	9:136,291,325	C/T	—	likely benign
rs148312697	9:136,291,338	G/C	missense variant	pathogenic
rs2491078779	9:136,291,345	A/G	—	uncertain significance
rs281875287	9:136,291,356	C/T	—	likely pathogenic
rs1554785242	9:136,291,360	G/T	—	uncertain significance
rs34054981	9:136,291,361	T/C	—	likely benign

Showing 100 of 699 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.