Variants
MYBPC3 variants
The 212 MYBPC3 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| R495G | c.1483C>G | Exon 17 | 47,342,719 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R495Q | c.1484G>A | Exon 17 | 47,342,718 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R495W | c.1483C>T | Exon 17 | 47,342,719 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R502Q | c.1505G>A | Exon 17 | 47,342,697 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A105Pfs*54 | c.313del | Exon 3 | 47,350,594 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A364T | c.1090G>A | Exon 12 | 47,346,207 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A482Gfs*49 | c.1444dup | Exon 16 | 47,342,842 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.25+1G>A | Intron 1 | 47,352,622 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.406+1G>A | Intron 3 | 47,350,501 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.407-2A>G | Intron 3 | 47,350,114 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.505+5G>C | Intron 4 | 47,350,009 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.506-2A>C | Intron 4 | 47,349,924 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.506-2A>G | Intron 4 | 47,349,924 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.654+1G>A | Intron 5 | 47,349,773 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.655-1G>A | Intron 5 | 47,348,542 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.772+1G>A | Intron 6 | 47,348,423 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.821+1G>A | Intron 7 | 47,347,856 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.821+1G>C | Intron 7 | 47,347,856 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.821+3G>T | Intron 7 | 47,347,854 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.821+5G>A | Intron 7 | 47,347,852 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.840_851+5del | Intron 8 | 47,347,645 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.852-2A>G | Intron 8 | 47,347,481 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.906-36G>A | Intron 9 | 47,347,065 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.927-2A>G | Intron 11 | 47,346,372 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.927-8G>A | Intron 11 | 47,346,378 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.927-9G>A | Intron 11 | 47,346,379 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.927-10C>A | Intron 11 | 47,346,380 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1090+1G>A | Intron 12 | 47,346,206 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1223+1G>A | Intron 13 | 47,343,491 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1224-19G>A | Intron 13 | 47,343,281 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1224-52G>A | Intron 13 | 47,343,314 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1224-80G>A | Intron 13 | 47,343,342 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1227-13G>A | Intron 14 | 47,343,158 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1351+1G>A | Intron 15 | 47,343,020 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1351+2T>C | Intron 15 | 47,343,019 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1458-1G>A | Intron 16 | 47,342,745 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1458-1G>C | Intron 16 | 47,342,745 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1591G>A | Exon 17 | 47,342,611 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1624+2T>C | Intron 17 | 47,342,576 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1624+4A>T | Intron 17 | 47,342,574 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1897+1G>A | Intron 19 | 47,341,137 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1927+600C>T | Intron 20 | 47,340,403 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1928-2A>G | Intron 20 | 47,339,792 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2067+1G>A | Intron 21 | 47,339,650 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2148+1G>T | Intron 22 | 47,339,323 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2149-1G>A | Intron 22 | 47,338,680 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2149-2del | Intron 22 | 47,338,680 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2308+1G>A | Intron 23 | 47,338,519 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2308+1G>T | Intron 23 | 47,338,519 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2309-2A>G | Intron 23 | 47,337,796 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2541C>A | Exon 25 | 47,337,452 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2603-1G>C | Intron 25 | 47,336,012 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2737+1G>A | Intron 26 | 47,335,876 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2737+2_2737+3del | Intron 26 | 47,335,873 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2737+5G>A | Intron 26 | 47,335,872 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2905+1G>A | Intron 27 | 47,335,041 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2905+1G>C | Intron 27 | 47,335,041 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3190+1G>A | Intron 29 | 47,333,556 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3190+2T>G | Intron 29 | 47,333,555 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3190+5G>A | Intron 29 | 47,333,552 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3330+2T>GIVS30+2T>G | Intron 30 | 47,333,192 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3330+5G>C | Intron 30 | 47,333,189 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3330+5G>T | Intron 30 | 47,333,189 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3331-1G>A | Intron 30 | 47,332,974 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3331-2A>C | Intron 30 | 47,332,975 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3490+1G>A | Intron 31 | 47,332,813 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3490+1G>T | Intron 31 | 47,332,813 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3491-2A>T | Intron 31 | 47,332,704 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3491-3C>G | Intron 31 | 47,332,705 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3627+1G>A | Intron 32 | 47,332,565 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3641G>A | Exon 33 | 47,332,245 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3815-1G>A | Intron 33 | 47,331,882 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C719X | c.2157_2158del | Exon 23 | 47,338,669 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C1124X | c.3372C>A | Exon 31 | 47,332,932 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D770N | c.2308G>A | Exon 23 | 47,338,520 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D1076Vfs*6 | c.3226_3227insT | Exon 30 | 47,333,297 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E60Afs*49 | c.177_187del | Exon 2 | 47,351,343 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E258K | c.772G>A | Exon 6 | 47,348,424 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E332X | c.993dup | Exon 12 | 47,346,303 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E334X | c.1000G>T | Exon 12 | 47,346,297 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E516X | c.1546G>T | Exon 17 | 47,342,656 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E542Q | c.1624G>C | Exon 17 | 47,342,578 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E611K | c.1831G>A | Exon 19 | 47,341,204 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E728X | c.2182G>T | Exon 23 | 47,338,646 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E1085X | c.3253G>T | Exon 30 | 47,333,271 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E1096Dfs*93 | c.3288del | Exon 30 | 47,333,235 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E1096X | c.3286G>T | Exon 30 | 47,333,238 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F305Pfs*27 | c.913_914del | Exon 11 | 47,346,638 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F412X | c.1235_1236del | Exon 15 | 47,343,135 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F448S | c.1343T>C | Exon 15 | 47,343,029 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F864Cfs*24 | c.2578_2590dup | Exon 25 | 47,337,402 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F1246Lfs*85 | c.3735del | Exon 33 | 47,332,150 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G144Afs*8 | c.431_432del | Exon 4 | 47,350,086 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G235Sfs*74 | c.676_701dup | Exon 6 | 47,348,494 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G278Efs*22 | c.833del | Exon 8 | 47,347,668 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G531R | c.1591G>C | Exon 17 | 47,342,611 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G758D | c.2273G>A | Exon 23 | 47,338,555 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G853Afs*26 | c.2558del | Exon 25 | 47,337,434 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G853Lfs*31 | c.2556_2557delinsTCT | Exon 25 | 47,337,436 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G853Rfs*31 | c.2555dup | Exon 25 | 47,337,437 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |