ADAMTS10
ADAM metallopeptidase with thrombospondin type 1 motif 10
Summary
This gene belongs to the ADAMTS (a disintegrin and metalloproteinase domain with thrombospondin type-1 motifs) family of zinc-dependent proteases. ADAMTS proteases are complex secreted enzymes containing a prometalloprotease domain of the reprolysin type attached to an ancillary domain with a highly conserved structure that includes at least one thrombospondin type 1 repeat. They have been demonstrated to have important roles in connective tissue organization, coagulation, inflammation, arthritis, angiogenesis and cell migration. The product of this gene plays a major role in growth and in skin, lens, and heart development. It is also a candidate gene for autosomal recessive Weill-Marchesani syndrome. [provided by RefSeq, Jul 2008]
Known Variants742 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs187201074 | 19:8,645,147 | G/A | — | uncertain significance |
| rs2042325419 | 19:8,645,199 | G/T | — | uncertain significance |
| rs1426786259 | 19:8,645,214 | G/T | — | uncertain significance |
| rs555471852 | 19:8,645,328 | C/G | — | benign |
| rs1385837919 | 19:8,645,330 | C/A | — | uncertain significance |
| rs116024095 | 19:8,645,349 | T/C | — | benign |
| rs886054707 | 19:8,645,366 | G/A | — | uncertain significance |
| rs141523849 | 19:8,645,421 | C/T | — | uncertain significance |
| rs1302375936 | 19:8,645,447 | T/A | — | uncertain significance |
| rs886054708 | 19:8,645,455 | G/A | — | uncertain significance |
| rs1045796093 | 19:8,645,466 | T/C | — | uncertain significance |
| rs74498506 | 19:8,645,518 | C/T | — | likely benign |
| rs1471058531 | 19:8,645,568 | G/A | — | uncertain significance |
| rs79238375 | 19:8,645,606 | C/T | — | likely benign |
| rs2042332746 | 19:8,645,620 | C/T | — | uncertain significance |
| rs910156203 | 19:8,645,631 | C/T | — | uncertain significance |
| rs886054709 | 19:8,645,696 | C/A | — | uncertain significance |
| rs905913217 | 19:8,645,730 | T/C | — | uncertain significance |
| rs782348033 | 19:8,645,741 | A/G | — | uncertain significance |
| rs137928083 | 19:8,645,757 | C/T | — | likely benign |
| rs782427016 | 19:8,645,783 | G/A | — | likely benign |
| rs7252299 | 19:8,645,786 | A/C | missense variant | benign |
| rs782201031 | 19:8,645,789 | G/A | — | likely benign |
| rs2512557413 | 19:8,645,807 | C/G | — | uncertain significance |
| rs782412095 | 19:8,645,812 | G/T | — | uncertain significance |
| rs781940900 | 19:8,645,819 | G/C | — | likely benign |
| rs782053556 | 19:8,645,821 | C/T | — | uncertain significance |
| rs2042337405 | 19:8,645,825 | G/T | — | uncertain significance |
| rs200639529 | 19:8,645,827 | T/C | — | uncertain significance |
| rs2042337704 | 19:8,645,845 | G/C | — | uncertain significance |
| rs2512557734 | 19:8,645,855 | G/A | — | likely benign |
| rs1365557131 | 19:8,645,868 | T/C | — | uncertain significance |
| rs1600087632 | 19:8,645,873 | C/G | — | likely benign |
| rs782811329 | 19:8,645,891 | G/A | — | benign |
| rs1555735686 | 19:8,645,893 | G/A | — | likely benign |
| rs1555735688 | 19:8,645,894 | G/C | — | likely benign |
| rs201074593 | 19:8,645,896 | C/G | — | likely benign |
| rs1476670032 | 19:8,645,897 | G/A | — | likely benign |
| rs781888648 | 19:8,645,898 | G/C | — | likely benign |
| rs782147687 | 19:8,645,899 | G/A | — | likely benign |
| rs782695719 | 19:8,645,901 | G/A | — | likely benign |
| rs1244937465 | 19:8,645,905 | G/C | — | likely benign |
| rs797041647 | 19:8,646,015 | T/C | — | benign |
| rs79674609 | 19:8,649,527 | G/A | — | benign |
| rs886054710 | 19:8,649,766 | G/A | — | conflicting classifications of pathogenicity |
| rs2042402417 | 19:8,649,786 | G/T | — | likely benign |
| rs80046653 | 19:8,649,788 | C/T | — | likely benign |
| rs782317309 | 19:8,649,793 | C/A | — | uncertain significance |
| rs530244308 | 19:8,649,799 | G/T | — | uncertain significance |
| rs2146037761 | 19:8,649,804 | G/T | — | uncertain significance |
| rs992529957 | 19:8,649,809 | C/G | — | uncertain significance |
| rs2512571370 | 19:8,649,812 | A/T | — | uncertain significance |
| rs2512571408 | 19:8,649,816 | G/A | — | likely benign |
| rs2512571430 | 19:8,649,821 | C/G | — | uncertain significance |
| rs886054711 | 19:8,649,822 | A/G | — | uncertain significance |
| rs2512571489 | 19:8,649,827 | G/A | — | pathogenic |
| rs1568391184 | 19:8,649,828 | C/T | — | likely benign |
| rs2042403296 | 19:8,649,831 | C/T | — | likely benign |
| rs916677846 | 19:8,649,832 | G/C | — | uncertain significance |
| rs1411647155 | 19:8,649,840 | C/A | — | likely benign |
| rs969473391 | 19:8,649,843 | C/T | — | likely benign |
| rs1168575796 | 19:8,649,848 | G/A | — | likely benign |
| rs1429307871 | 19:8,649,858 | G/A | — | likely benign |
| rs782030305 | 19:8,649,861 | C/T | — | likely benign |
| rs566999321 | 19:8,649,865 | T/G | — | uncertain significance |
| rs1555736450 | 19:8,649,867 | C/A | — | likely benign |
| rs1555736455 | 19:8,649,869 | A/T | — | uncertain significance |
| rs1195784401 | 19:8,649,873 | C/G | — | uncertain significance |
| rs2512571810 | 19:8,649,876 | G/T | — | likely benign |
| rs10405956 | 19:8,649,879 | C/T | — | likely benign |
| rs1246555705 | 19:8,649,884 | G/A | — | uncertain significance |
| rs1440072510 | 19:8,649,889 | G/T | — | uncertain significance |
| rs2042404986 | 19:8,649,896 | G/T | — | uncertain significance |
| rs1555736467 | 19:8,649,897 | C/T | — | likely benign |
| rs1339572177 | 19:8,649,898 | A/C | — | likely pathogenic |
| rs781916006 | 19:8,649,900 | C/T | — | likely benign |
| rs2512571969 | 19:8,649,902 | A/G | — | uncertain significance |
| rs2042405403 | 19:8,649,915 | C/G | — | likely benign |
| rs2146038264 | 19:8,649,921 | G/C | — | likely benign |
| rs1555736497 | 19:8,649,930 | T/C | — | likely benign |
| rs2146038308 | 19:8,649,936 | G/A | — | likely benign |
| rs782096481 | 19:8,649,943 | G/A | — | likely benign |
| rs759098979 | 19:8,649,946 | G/A | — | conflicting classifications of pathogenicity |
| rs1368832185 | 19:8,649,948 | G/T | — | likely benign |
| rs900154254 | 19:8,650,000 | G/T | — | likely benign |
| rs569168750 | 19:8,650,034 | C/T | — | likely benign |
| rs2042408162 | 19:8,650,041 | C/T | — | uncertain significance |
| rs1048839183 | 19:8,650,047 | G/A | — | uncertain significance |
| rs1555736577 | 19:8,650,052 | G/A | — | likely benign |
| rs2042408557 | 19:8,650,056 | C/T | — | uncertain significance |
| rs1159059721 | 19:8,650,072 | G/A | — | likely pathogenic |
| rs1471904858 | 19:8,650,075 | T/A | — | uncertain significance |
| rs538097886 | 19:8,650,076 | G/C | — | benign |
| rs1555736597 | 19:8,650,078 | T/C | — | uncertain significance |
| rs1472234085 | 19:8,650,082 | C/A | — | likely benign |
| rs2042409305 | 19:8,650,097 | G/A | — | likely benign |
| rs1555736606 | 19:8,650,110 | G/T | — | uncertain significance |
| rs781843238 | 19:8,650,115 | G/A | — | likely benign |
| rs1206673788 | 19:8,650,120 | G/C | — | uncertain significance |
| rs896702293 | 19:8,650,121 | C/T | — | likely benign |
Showing 100 of 742 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.