VCL
vinculin
Summary
Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Defects in VCL are the cause of cardiomyopathy dilated type 1W. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
Known Variants1,111 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3812624 | 10:75,757,580 | A/G | — | benign |
| rs3812625 | 10:75,757,702 | A/G | — | benign |
| rs546209689 | 10:75,757,783 | C/T | — | likely benign |
| rs576751733 | 10:75,757,806 | G/A | — | likely benign |
| rs1591641543 | 10:75,757,870 | C/T | — | uncertain significance |
| rs886047215 | 10:75,757,904 | T/G | — | uncertain significance |
| rs1189528818 | 10:75,757,908 | G/T | — | uncertain significance |
| rs780482320 | 10:75,757,953 | G/A | — | likely benign |
| rs1198438654 | 10:75,757,962 | C/T | — | uncertain significance |
| rs929741279 | 10:75,757,969 | C/G | — | uncertain significance |
| rs753870747 | 10:75,757,971 | A/C | — | likely benign |
| rs1285375542 | 10:75,757,973 | T/C | — | uncertain significance |
| rs2136218216 | 10:75,757,979 | A/C | — | uncertain significance |
| rs1247615898 | 10:75,757,983 | G/A | — | likely benign |
| rs764871020 | 10:75,757,985 | G/T | — | uncertain significance |
| rs1411168963 | 10:75,757,989 | G/T | — | likely benign |
| rs2136218230 | 10:75,757,992 | C/T | — | likely benign |
| rs146750460 | 10:75,757,995 | G/A | — | likely benign |
| rs397517240 | 10:75,757,996 | A/G | — | uncertain significance |
| rs777811020 | 10:75,757,997 | G/A | — | uncertain significance |
| rs774195260 | 10:75,758,001 | C/T | — | conflicting classifications of pathogenicity |
| rs775062250 | 10:75,758,010 | G/A | — | conflicting classifications of pathogenicity |
| rs794729189 | 10:75,758,015 | C/A | — | uncertain significance |
| rs1591641682 | 10:75,758,016 | A/G | — | likely benign |
| rs1840153312 | 10:75,758,018 | A/G | — | uncertain significance |
| rs1591641685 | 10:75,758,028 | C/G | — | likely benign |
| rs1591641692 | 10:75,758,034 | G/A | — | conflicting classifications of pathogenicity |
| rs1591641707 | 10:75,758,040 | A/C | — | likely benign |
| rs2549180788 | 10:75,758,042 | T/G | — | uncertain significance |
| rs1486411009 | 10:75,758,044 | C/G | — | uncertain significance |
| rs200733607 | 10:75,758,046 | C/T | — | conflicting classifications of pathogenicity |
| rs2136218290 | 10:75,758,052 | G/A | — | likely benign |
| rs1840154118 | 10:75,758,063 | A/G | — | uncertain significance |
| rs568175141 | 10:75,758,064 | C/T | — | likely benign |
| rs139329923 | 10:75,758,068 | A/G | — | uncertain significance |
| rs2136218305 | 10:75,758,072 | C/T | — | uncertain significance |
| rs2549180824 | 10:75,758,076 | T/C | — | likely benign |
| rs1060502194 | 10:75,758,078 | C/T | — | uncertain significance |
| rs1840154450 | 10:75,758,083 | C/G | — | uncertain significance |
| rs144080529 | 10:75,758,085 | C/T | — | likely benign |
| rs1425074543 | 10:75,758,087 | C/T | — | uncertain significance |
| rs2549180848 | 10:75,758,089 | G/A | — | uncertain significance |
| rs1031820588 | 10:75,758,091 | G/T | — | likely benign |
| rs1169961162 | 10:75,758,094 | C/T | — | likely benign |
| rs1840154859 | 10:75,758,098 | G/A | — | uncertain significance |
| rs1840154950 | 10:75,758,100 | C/G | — | likely benign |
| rs992545879 | 10:75,758,101 | G/T | — | uncertain significance |
| rs2136218338 | 10:75,758,105 | T/G | — | uncertain significance |
| rs1431682297 | 10:75,758,107 | C/T | — | uncertain significance |
| rs2549180866 | 10:75,758,110 | G/A | — | uncertain significance |
| rs1290715724 | 10:75,758,111 | C/G | — | uncertain significance |
| rs1565628951 | 10:75,758,116 | G/T | — | uncertain significance |
| rs886047216 | 10:75,758,120 | G/C | — | uncertain significance |
| rs2136218360 | 10:75,758,121 | C/T | — | likely benign |
| rs751938777 | 10:75,758,123 | A/G | — | uncertain significance |
| rs2549180873 | 10:75,758,125 | C/T | — | uncertain significance |
| rs755441334 | 10:75,758,128 | G/T | — | uncertain significance |
| rs1591641812 | 10:75,758,130 | C/A | — | likely benign |
| rs1555112641 | 10:75,758,131 | C/T | — | uncertain significance |
| rs1840155750 | 10:75,758,132 | G/A | — | uncertain significance |
| rs780959726 | 10:75,758,140 | G/T | — | likely benign |
| rs997516030 | 10:75,758,142 | G/T | — | likely benign |
| rs1311260596 | 10:75,758,151 | G/T | — | likely benign |
| rs368934323 | 10:75,758,153 | C/A | — | likely benign |
| rs10824058 | 10:75,791,639 | G/A | downstream gene variant | — |
| rs10762573 | 10:75,798,148 | A/C | intron variant | — |
| rs144295868 | 10:75,802,551 | G/A | — | likely benign |
| rs1309271037 | 10:75,802,821 | G/C | — | likely benign |
| rs770892019 | 10:75,802,822 | A/G | — | likely benign |
| rs1057521827 | 10:75,802,823 | T/A | — | likely benign |
| rs778769534 | 10:75,802,831 | C/G | — | likely benign |
| rs980777626 | 10:75,802,832 | C/T | — | likely benign |
| rs370213146 | 10:75,802,834 | C/G | — | likely benign |
| rs771888532 | 10:75,802,837 | G/C | — | likely benign |
| rs1841125642 | 10:75,802,845 | G/A | — | uncertain significance |
| rs938335177 | 10:75,802,852 | G/A | — | likely benign |
| rs776787274 | 10:75,802,855 | T/G | — | likely benign |
| rs147809878 | 10:75,802,856 | G/C | — | uncertain significance |
| rs769799445 | 10:75,802,857 | T/C | — | uncertain significance |
| rs773335930 | 10:75,802,858 | T/C | — | likely benign |
| rs571901910 | 10:75,802,861 | A/G | — | likely benign |
| rs2549198949 | 10:75,802,867 | T/C | — | likely benign |
| rs1841126519 | 10:75,802,873 | T/A | — | uncertain significance |
| rs2549198959 | 10:75,802,880 | T/A | — | uncertain significance |
| rs1196607553 | 10:75,802,892 | A/G | — | likely benign |
| rs373830664 | 10:75,802,896 | C/T | — | uncertain significance |
| rs759937112 | 10:75,802,897 | A/G | — | likely benign |
| rs2549198969 | 10:75,802,899 | C/T | — | uncertain significance |
| rs1273519420 | 10:75,802,900 | A/G | — | likely benign |
| rs2549198976 | 10:75,802,908 | T/C | — | uncertain significance |
| rs2549198980 | 10:75,802,909 | T/A | — | likely benign |
| rs775532257 | 10:75,802,910 | A/C | — | uncertain significance |
| rs372571288 | 10:75,802,914 | G/A | — | uncertain significance |
| rs752335603 | 10:75,802,917 | T/G | — | uncertain significance |
| rs1180247012 | 10:75,802,919 | A/C | — | likely benign |
| rs574769425 | 10:75,802,920 | T/C | — | likely benign |
| rs918332199 | 10:75,802,922 | G/A | — | likely benign |
| rs71535783 | 10:75,803,059 | A/T | — | likely benign |
| rs11000864 | 10:75,818,146 | G/A | regulatory region variant | — |
| rs35828059 | 10:75,830,282 | T/C | — | likely benign |
Showing 100 of 1,111 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.