Variants
MYH7 variants
The 125 MYH7 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A868P | c.2602G>C | Exon 22 | 23,424,846 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D239N | c.715G>A | Exon 8 | 23,431,602 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D906G | c.2717A>G | Exon 23 | 23,424,112 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E894G | c.2681A>G | Exon 23 | 23,424,148 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E931del | c.2791_2793del | Exon 23 | 23,424,035 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E949K | c.2845G>A | Exon 23 | 23,423,984 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1356K | c.4066G>A | Exon 30 | 23,418,313 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1801K | c.5401G>A | Exon 37 | 23,415,153 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1914K | c.5740G>A | Exon 39 | 23,413,809 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G584R | c.1750G>C | Exon 16 | 23,427,723 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G716R | c.2146G>A | Exon 19 | 23,425,980 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G741R | c.2221G>C | Exon 20 | 23,425,760 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G741W | c.2221G>T | Exon 20 | 23,425,760 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G1057S | c.3169G>A | Exon 25 | 23,422,256 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I263T | c.788T>C | Exon 9 | 23,431,426 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I457T | c.1370T>C | Exon 14 | 23,428,992 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I736T | c.2207T>C | Exon 20 | 23,425,774 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K847del | c.2539_2541del | Exon 22 | 23,424,906 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K847E | c.2539A>G | Exon 22 | 23,424,909 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K865E | c.2593A>G | Exon 22 | 23,424,855 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L908V | c.2722C>G | Exon 23 | 23,424,107 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P710H | c.2129C>A | Exon 19 | 23,425,997 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P838L | c.2513C>T | Exon 22 | 23,424,935 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R143Q | c.428G>A | Exon 5 | 23,432,713 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R143W | c.427C>T | Exon 5 | 23,432,714 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R369Q | c.1106G>A | Exon 12 | 23,429,807 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R403Q | c.1208G>A | Exon 13 | 23,429,278 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R403W | c.1207C>T | Exon 13 | 23,429,279 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R453C | c.1357C>T | Exon 14 | 23,429,005 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R453H | c.1358G>A | Exon 14 | 23,429,004 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R453S | c.1357C>A | Exon 14 | 23,429,005 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R663H | c.1988G>A | Exon 18 | 23,426,833 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R719Q | c.2156G>A | Exon 19 | 23,425,970 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R719W | c.2155C>T | Exon 19 | 23,425,971 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R723C | c.2167C>T | Exon 20 | 23,425,814 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R723G | c.2167C>G | Exon 20 | 23,425,814 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R869H | c.2606G>A | Exon 22 | 23,424,842 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R870C | c.2608C>T | Exon 22 | 23,424,840 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R870H | c.2609G>A | Exon 22 | 23,424,839 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R904C | c.2710C>T | Exon 23 | 23,424,119 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R904H | c.2711G>A | Exon 23 | 23,424,118 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1045L | c.3134G>T | Exon 25 | 23,422,291 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1053Q | c.3158G>A | Exon 25 | 23,422,267 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1193H | c.3578G>A | Exon 27 | 23,419,993 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1420W | c.4258C>T | Exon 31 | 23,417,598 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1712Q | c.5135G>A | Exon 35 | 23,415,651 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1712W | c.5134C>T | Exon 35 | 23,415,652 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S532P | c.1594T>C | Exon 16 | 23,427,879 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T1377M | c.4130C>T | Exon 30 | 23,418,249 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V338M | c.1012G>A | Exon 12 | 23,429,901 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V440M | c.1318G>A | Exon 14 | 23,429,044 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y386C | c.1157A>G | Exon 13 | 23,429,329 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A199V | c.596C>T | Exon 7 | 23,431,804 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A355T | c.1063G>A | Exon 12 | 23,429,850 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A797T | c.2389G>A | Exon 21 | 23,425,316 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A1379T | c.4135G>A | Exon 30 | 23,418,244 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.732+1G>A | Intron 8 | 23,431,584 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2221G>A | Exon 20 | 23,425,760 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2631G>C | Exon 22 | 23,424,817 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3973-2A>C | Intron 29 | 23,418,408 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.5655G>A | Exon 38 | 23,414,007 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| D778E | c.2334C>G | Exon 21 | 23,425,371 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D928N | c.2782G>A | Exon 23 | 23,424,047 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E483K | c.1447G>A | Exon 15 | 23,428,631 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E497D | c.1491G>T | Exon 15 | 23,428,587 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E525K | c.1573G>A | Exon 15 | 23,428,505 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E846Q | c.2536G>C | Exon 22 | 23,424,912 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E848G | c.2543A>G | Exon 22 | 23,424,905 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E903K | c.2707G>A | Exon 23 | 23,424,122 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E924K | c.2770G>A | Exon 23 | 23,424,059 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E927K | c.2779G>A | Exon 23 | 23,424,050 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E930Q | c.2788G>C | Exon 23 | 23,424,041 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E1116K | c.3346G>A | Exon 27 | 23,420,225 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E1205K | c.3613G>A | Exon 27 | 23,419,958 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G256E | c.767G>A | Exon 9 | 23,431,447 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G407V | c.1220G>T | Exon 13 | 23,429,266 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G425R | c.1273G>A | Exon 14 | 23,429,089 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G584S | c.1750G>A | Exon 16 | 23,427,723 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G708A | c.2123G>C | Exon 19 | 23,426,003 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G768R | c.2302G>A | Exon 21 | 23,425,403 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H576R | c.1727A>G | Exon 16 | 23,427,746 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I201T | c.602T>C | Exon 7 | 23,431,798 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I702N | c.2105T>A | Exon 19 | 23,426,021 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K146N | c.438G>T | Exon 5 | 23,432,703 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K207Q | c.619A>C | Exon 7 | 23,431,781 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K657Q | c.1969A>C | Exon 18 | 23,426,852 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K865R | c.2594A>G | Exon 22 | 23,424,854 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K1729del | c.5186_5188del | Exon 36 | 23,415,475 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| M493V | c.1477A>G | Exon 15 | 23,428,601 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| M849T | c.2546T>C | Exon 22 | 23,424,902 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| M852T | c.2555T>C | Exon 22 | 23,424,893 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| M877I | c.2631G>T | Exon 22 | 23,424,817 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N444S | c.1331A>G | Exon 14 | 23,429,031 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N479S | c.1436A>G | Exon 15 | 23,428,642 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N602S | c.1805A>G | Exon 16 | 23,427,668 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N696S | c.2087A>G | Exon 19 | 23,426,039 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q475K | c.1423C>A | Exon 15 | 23,428,655 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q882E | c.2644C>G | Exon 22 | 23,424,804 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R204H | c.611G>A | Exon 7 | 23,431,789 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R204L | c.611G>T | Exon 7 | 23,431,789 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |