CMYA5
cardiomyopathy associated 5
Summary
Predicted to enable identical protein binding activity and protein phosphatase inhibitor activity. Predicted to act upstream of or within negative regulation of calcineurin-NFAT signaling cascade and regulation of skeletal muscle adaptation. Predicted to be located in several cellular components, including costamere; perinuclear region of cytoplasm; and sarcoplasmic reticulum. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants304 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs141830505 | 5:78,985,833 | G/A | — | benign |
| rs1469550081 | 5:78,985,839 | G/A | — | uncertain significance |
| rs6883197 | 5:78,991,373 | A/G | regulatory region variant | — |
| rs760362887 | 5:79,024,740 | T/C | — | uncertain significance |
| rs189499447 | 5:79,024,747 | C/A | — | likely benign |
| rs16877109 | 5:79,024,779 | A/G | missense variant | — |
| rs747442785 | 5:79,024,794 | C/T | — | uncertain significance |
| rs143935876 | 5:79,024,840 | C/G | — | likely benign |
| rs180745048 | 5:79,024,866 | C/G | — | uncertain significance |
| rs147271727 | 5:79,024,901 | G/C | — | conflicting classifications of pathogenicity |
| rs184264492 | 5:79,024,903 | T/C | — | likely benign |
| rs376295720 | 5:79,024,913 | C/T | — | uncertain significance |
| rs140535919 | 5:79,024,914 | G/A | — | uncertain significance |
| rs150802939 | 5:79,024,949 | G/C | — | uncertain significance |
| rs2485299029 | 5:79,024,953 | C/T | — | uncertain significance |
| rs756435895 | 5:79,024,973 | A/G | — | uncertain significance |
| rs371922369 | 5:79,024,995 | A/T | — | uncertain significance |
| rs2485299226 | 5:79,025,000 | T/C | — | uncertain significance |
| rs570397324 | 5:79,025,006 | C/G | — | uncertain significance |
| rs62621858 | 5:79,025,028 | G/A | — | benign |
| rs2485299419 | 5:79,025,037 | A/G | — | uncertain significance |
| rs1827817617 | 5:79,025,038 | C/A | — | uncertain significance |
| rs768242479 | 5:79,025,093 | C/G | — | uncertain significance |
| rs186943498 | 5:79,025,110 | C/G | — | uncertain significance |
| rs6895605 | 5:79,025,113 | G/T | — | benign |
| rs752916916 | 5:79,025,144 | A/G | — | uncertain significance |
| rs531983065 | 5:79,025,178 | C/G | — | uncertain significance |
| rs751735438 | 5:79,025,253 | T/C | — | uncertain significance |
| rs112038326 | 5:79,025,290 | G/A | — | benign |
| rs182421982 | 5:79,025,397 | A/G | — | uncertain significance |
| rs200878416 | 5:79,025,441 | C/T | — | likely benign |
| rs780688412 | 5:79,025,486 | T/C | — | uncertain significance |
| rs76977444 | 5:79,025,503 | C/T | — | benign |
| rs200009587 | 5:79,025,504 | G/A | — | uncertain significance |
| rs748445039 | 5:79,025,539 | G/A | — | uncertain significance |
| rs1157123741 | 5:79,025,563 | A/T | — | uncertain significance |
| rs114648445 | 5:79,025,592 | C/T | — | likely benign |
| rs201559548 | 5:79,025,615 | C/T | — | benign |
| rs866071650 | 5:79,025,627 | A/C | — | uncertain significance |
| rs144913308 | 5:79,025,689 | A/G | — | benign |
| rs114379779 | 5:79,025,800 | A/G | — | benign |
| rs532831778 | 5:79,025,826 | C/T | — | uncertain significance |
| rs201209818 | 5:79,025,828 | G/A | — | uncertain significance |
| rs573393420 | 5:79,025,924 | T/C | — | uncertain significance |
| rs771950622 | 5:79,025,931 | A/G | — | uncertain significance |
| rs200398053 | 5:79,025,976 | T/C | — | uncertain significance |
| rs114134827 | 5:79,025,999 | G/A | — | benign |
| rs199731032 | 5:79,026,008 | A/G | — | uncertain significance |
| rs375110880 | 5:79,026,034 | A/C | — | likely benign |
| rs761441596 | 5:79,026,146 | G/C | — | uncertain significance |
| rs141358383 | 5:79,026,217 | C/T | — | likely benign |
| rs747687553 | 5:79,026,240 | T/A | — | uncertain significance |
| rs777102367 | 5:79,026,285 | T/C | — | likely benign |
| rs200387533 | 5:79,026,339 | A/C | — | likely benign |
| rs896420968 | 5:79,026,347 | T/C | — | uncertain significance |
| rs867952885 | 5:79,026,395 | G/A | — | uncertain significance |
| rs182125509 | 5:79,026,410 | T/C | — | benign |
| rs780620633 | 5:79,026,494 | G/A | — | uncertain significance |
| rs774395960 | 5:79,026,540 | G/A | — | uncertain significance |
| rs776552644 | 5:79,026,543 | C/G | — | uncertain significance |
| rs199650720 | 5:79,026,649 | T/G | — | uncertain significance |
| rs370833980 | 5:79,026,701 | C/T | — | likely benign |
| rs200554337 | 5:79,026,737 | C/T | — | uncertain significance |
| rs2485305980 | 5:79,026,840 | A/G | — | uncertain significance |
| rs747914795 | 5:79,026,886 | G/C | — | uncertain significance |
| rs373891874 | 5:79,026,919 | C/T | — | likely benign |
| rs922053055 | 5:79,027,032 | T/C | — | uncertain significance |
| rs62363673 | 5:79,027,096 | C/T | — | benign |
| rs200040437 | 5:79,027,171 | C/T | — | likely benign |
| rs781101969 | 5:79,027,223 | T/C | — | likely benign |
| rs759695468 | 5:79,027,263 | G/A | — | uncertain significance |
| rs766224872 | 5:79,027,377 | C/T | — | uncertain significance |
| rs193140185 | 5:79,027,379 | C/T | — | likely benign |
| rs754672774 | 5:79,027,382 | A/G | — | uncertain significance |
| rs146631524 | 5:79,027,464 | C/T | — | conflicting classifications of pathogenicity |
| rs2485308533 | 5:79,027,493 | G/C | — | uncertain significance |
| rs139109943 | 5:79,027,494 | A/T | — | uncertain significance |
| rs780324977 | 5:79,027,544 | A/G | — | uncertain significance |
| rs775343526 | 5:79,027,610 | A/G | — | likely benign |
| rs1248491778 | 5:79,027,635 | C/T | — | uncertain significance |
| rs768155847 | 5:79,027,638 | A/C | — | uncertain significance |
| rs954439020 | 5:79,027,740 | C/A | — | uncertain significance |
| rs1184375972 | 5:79,027,777 | G/A | — | likely benign |
| rs2485309598 | 5:79,027,790 | A/G | — | uncertain significance |
| rs200355561 | 5:79,027,890 | C/T | — | uncertain significance |
| rs202024565 | 5:79,027,921 | G/A | — | likely benign |
| rs201246764 | 5:79,027,923 | A/G | — | uncertain significance |
| rs112677356 | 5:79,028,025 | T/C | — | likely benign |
| rs377144788 | 5:79,028,037 | C/T | — | uncertain significance |
| rs2485311031 | 5:79,028,055 | A/C | — | uncertain significance |
| rs368049019 | 5:79,028,081 | A/G | — | uncertain significance |
| rs1484583196 | 5:79,028,112 | A/G | — | uncertain significance |
| rs374881012 | 5:79,028,144 | C/A | — | uncertain significance |
| rs745393701 | 5:79,028,222 | G/C | — | uncertain significance |
| rs1181532723 | 5:79,028,235 | C/T | — | uncertain significance |
| rs1413037754 | 5:79,028,237 | A/C | — | uncertain significance |
| rs763023926 | 5:79,028,275 | G/C | — | uncertain significance |
| rs200688277 | 5:79,028,295 | C/G | — | uncertain significance |
| rs199784482 | 5:79,028,327 | G/A | — | likely benign |
| rs1367854104 | 5:79,028,328 | T/C | — | uncertain significance |
Showing 100 of 304 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.