MYOT
myotilin
Summary
This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008]
Known Variants346 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1281967239 | 5:137,203,568 | C/G | — | uncertain significance |
| rs6863775 | 5:137,203,603 | A/G | — | likely benign |
| rs186433387 | 5:137,203,621 | C/A | — | likely benign |
| rs552287691 | 5:137,205,830 | A/G | — | benign |
| rs58860731 | 5:137,205,956 | T/A | — | benign |
| rs866748883 | 5:137,206,176 | C/T | — | uncertain significance |
| rs1561657261 | 5:137,206,341 | A/T | — | uncertain significance |
| rs1206079947 | 5:137,206,352 | C/T | — | likely benign |
| rs1755017561 | 5:137,206,353 | G/A | — | uncertain significance |
| rs1264310581 | 5:137,206,356 | C/T | — | uncertain significance |
| rs387906882 | 5:137,206,357 | G/A | missense variant | pathogenic |
| rs1458337385 | 5:137,206,372 | T/C | — | uncertain significance |
| rs886044376 | 5:137,206,374 | C/G | — | uncertain significance |
| rs1755018928 | 5:137,206,388 | A/C | — | likely benign |
| rs202005786 | 5:137,206,389 | T/A | — | uncertain significance |
| rs2149978722 | 5:137,206,390 | G/A | — | uncertain significance |
| rs2531990724 | 5:137,206,393 | G/T | — | uncertain significance |
| rs150786535 | 5:137,206,401 | T/C | — | conflicting classifications of pathogenicity |
| rs751876756 | 5:137,206,407 | C/T | — | uncertain significance |
| rs968947514 | 5:137,206,416 | C/T | — | uncertain significance |
| rs767662244 | 5:137,206,423 | C/T | — | uncertain significance |
| rs1580847200 | 5:137,206,426 | C/T | — | uncertain significance |
| rs545828785 | 5:137,206,436 | T/C | — | conflicting classifications of pathogenicity |
| rs1554102559 | 5:137,206,438 | G/T | — | uncertain significance |
| rs121908461 | 5:137,206,456 | C/T | missense variant | pathogenic |
| rs889683833 | 5:137,206,458 | A/G | — | uncertain significance |
| rs139254363 | 5:137,206,460 | T/A | — | conflicting classifications of pathogenicity |
| rs587780396 | 5:137,206,462 | T/C | — | uncertain significance |
| rs886042887 | 5:137,206,469 | G/C | — | uncertain significance |
| rs1358850010 | 5:137,206,474 | G/T | — | uncertain significance |
| rs2149978825 | 5:137,206,477 | A/T | — | uncertain significance |
| rs770515990 | 5:137,206,483 | C/T | — | uncertain significance |
| rs199760778 | 5:137,206,485 | G/C | — | uncertain significance |
| rs1309789504 | 5:137,206,487 | G/C | — | uncertain significance |
| rs34717730 | 5:137,206,489 | A/G | — | likely benign |
| rs2149978850 | 5:137,206,491 | A/G | — | uncertain significance |
| rs2531991067 | 5:137,206,496 | T/C | — | likely benign |
| rs121908457 | 5:137,206,504 | C/T | missense variant | pathogenic |
| rs2531991155 | 5:137,206,507 | C/T | — | uncertain significance |
| rs28937597 | 5:137,206,510 | C/T | missense variant | pathogenic |
| rs2149978876 | 5:137,206,516 | G/A | — | uncertain significance |
| rs121908458 | 5:137,206,519 | C/G | missense variant | pathogenic |
| rs372276337 | 5:137,206,522 | A/C | — | uncertain significance |
| rs2531991242 | 5:137,206,528 | C/T | — | uncertain significance |
| rs753821949 | 5:137,206,529 | C/G | — | likely benign |
| rs763147610 | 5:137,206,531 | T/A | — | uncertain significance |
| rs960309994 | 5:137,206,538 | C/A | — | likely benign |
| rs1755028235 | 5:137,206,547 | C/T | — | likely benign |
| rs6890689 | 5:137,206,560 | A/C | missense variant | likely benign |
| rs2531991398 | 5:137,206,565 | G/C | — | uncertain significance |
| rs1755029530 | 5:137,206,572 | G/A | — | uncertain significance |
| rs1307499652 | 5:137,206,579 | A/G | — | uncertain significance |
| rs529067126 | 5:137,206,580 | C/T | — | benign |
| rs746724861 | 5:137,206,589 | A/G | — | likely benign |
| rs886044687 | 5:137,206,592 | G/A | — | conflicting classifications of pathogenicity |
| rs368052792 | 5:137,206,595 | T/C | — | conflicting classifications of pathogenicity |
| rs1205992276 | 5:137,206,597 | C/A | — | uncertain significance |
| rs2531991571 | 5:137,206,619 | A/G | — | likely benign |
| rs767970351 | 5:137,206,620 | G/A | — | uncertain significance |
| rs773396473 | 5:137,206,622 | C/T | — | uncertain significance |
| rs121908460 | 5:137,206,624 | G/T | missense variant | pathogenic |
| rs1423966332 | 5:137,206,638 | A/G | — | uncertain significance |
| rs878854392 | 5:137,206,654 | C/T | — | uncertain significance |
| rs753980297 | 5:137,206,658 | T/A | — | uncertain significance |
| rs142416150 | 5:137,206,663 | A/C | — | conflicting classifications of pathogenicity |
| rs752723849 | 5:137,206,675 | T/A | — | uncertain significance |
| rs34593399 | 5:137,206,682 | C/T | — | conflicting classifications of pathogenicity |
| rs114194130 | 5:137,206,683 | G/T | — | conflicting classifications of pathogenicity |
| rs1295803826 | 5:137,206,688 | G/A | — | uncertain significance |
| rs1461754985 | 5:137,206,709 | T/G | — | uncertain significance |
| rs10053630 | 5:137,206,924 | C/T | — | benign |
| rs73790079 | 5:137,211,235 | C/T | — | benign |
| rs2691634 | 5:137,211,268 | T/G | — | benign |
| rs763125919 | 5:137,211,499 | T/C | — | likely benign |
| rs763876363 | 5:137,211,503 | T/A | — | likely benign |
| rs141710153 | 5:137,211,520 | A/G | — | conflicting classifications of pathogenicity |
| rs2531999213 | 5:137,211,525 | C/T | — | uncertain significance |
| rs755711807 | 5:137,211,542 | A/G | — | likely benign |
| rs1191595067 | 5:137,211,546 | A/G | — | uncertain significance |
| rs1554102960 | 5:137,211,548 | A/G | — | uncertain significance |
| rs1554102961 | 5:137,211,552 | G/T | — | uncertain significance |
| rs982468554 | 5:137,211,553 | C/A | — | uncertain significance |
| rs779568205 | 5:137,211,559 | C/T | — | conflicting classifications of pathogenicity |
| rs748726301 | 5:137,211,565 | A/C | — | uncertain significance |
| rs778201315 | 5:137,211,570 | G/A | — | uncertain significance |
| rs747546314 | 5:137,211,575 | T/C | — | conflicting classifications of pathogenicity |
| rs2531999352 | 5:137,211,580 | A/T | — | uncertain significance |
| rs1011148618 | 5:137,211,581 | G/A | — | likely benign |
| rs771238896 | 5:137,211,585 | A/G | — | uncertain significance |
| rs1304403308 | 5:137,211,588 | C/T | — | uncertain significance |
| rs1755197357 | 5:137,211,597 | C/T | — | uncertain significance |
| rs1331200745 | 5:137,211,599 | T/C | — | likely benign |
| rs71578935 | 5:137,211,606 | G/C | — | likely benign |
| rs1163332539 | 5:137,211,610 | T/C | — | uncertain significance |
| rs770101476 | 5:137,211,620 | A/G | — | likely benign |
| rs148166751 | 5:137,211,625 | A/C | — | uncertain significance |
| rs2531999534 | 5:137,211,630 | T/C | — | likely benign |
| rs762886873 | 5:137,211,632 | G/A | — | likely benign |
| rs2531999560 | 5:137,211,634 | T/C | — | uncertain significance |
| rs1755198948 | 5:137,211,645 | G/A | — | uncertain significance |
Showing 100 of 346 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.