Variants
MYOC variants
The 49 MYOC 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 |
|---|---|---|---|---|---|
| A363T | c.1087G>A | Exon 3 | 171,636,353 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.1440C>G | Exon 3 | 171,636,000 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C433R | c.1297T>C | Exon 3 | 171,636,143 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C433Y | c.1298G>A | Exon 3 | 171,636,142 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D380A | c.1139A>C | Exon 3 | 171,636,301 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D380G | c.1139A>G | Exon 3 | 171,636,301 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D380H | c.1138G>C | Exon 3 | 171,636,302 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D380Y | c.1138G>T | Exon 3 | 171,636,302 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D384G | c.1151A>G | Exon 3 | 171,636,289 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D384H | c.1150G>C | Exon 3 | 171,636,290 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D384N | c.1150G>A | Exon 3 | 171,636,290 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E323K | c.967G>A | Exon 3 | 171,636,473 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E385K | c.1153G>A | Exon 3 | 171,636,287 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E396dup | c.1187_1189dup | Exon 3 | 171,636,250 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G246R | c.736G>A | Exon 3 | 171,636,704 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G252R | c.754G>A | Exon 3 | 171,636,686 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G326R | c.976G>C | Exon 3 | 171,636,464 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G364V | c.1091G>T | Exon 3 | 171,636,349 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G367_Q368delinsV | c.1100_1103delinsT | Exon 3 | 171,636,337 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G367R | c.1099G>A | Exon 3 | 171,636,341 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G387D | c.1160G>A | Exon 3 | 171,636,280 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G399V | c.1196G>T | Exon 3 | 171,636,244 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I477N | c.1430T>A | Exon 3 | 171,636,010 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I477S | c.1430T>G | Exon 3 | 171,636,010 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I499F | c.1495A>T | Exon 3 | 171,635,945 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I499S | c.1496T>G | Exon 3 | 171,635,944 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K423E | c.1267A>G | Exon 3 | 171,636,173 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L486F | c.1456C>T | Exon 3 | 171,635,984 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| N450Y | c.1348A>T | Exon 3 | 171,636,092 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| N480K | c.1440C>A | Exon 3 | 171,636,000 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P254L | c.761C>T | Exon 3 | 171,636,679 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P254T | c.760C>A | Exon 3 | 171,636,680 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P274R | c.821C>G | Exon 3 | 171,636,619 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P370L | c.1109C>T | Exon 3 | 171,636,331 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P481L | c.1442C>T | Exon 3 | 171,635,998 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q368X | c.1102C>T | Exon 3 | 171,636,338 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R272G | c.814C>G | Exon 3 | 171,636,626 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S341P | c.1021T>C | Exon 3 | 171,636,419 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S502P | c.1504T>C | Exon 3 | 171,635,936 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| T377K | c.1130C>A | Exon 3 | 171,636,310 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| T377M | c.1130C>T | Exon 3 | 171,636,310 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T438I | c.1313C>T | Exon 3 | 171,636,127 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| T455K | c.1364C>A | Exon 3 | 171,636,076 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V251A | c.752T>C | Exon 3 | 171,636,688 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V426F | c.1276G>T | Exon 3 | 171,636,164 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| W286R | c.856T>C | Exon 3 | 171,636,584 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y371D | c.1111T>G | Exon 3 | 171,636,329 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y437H | c.1309T>C | Exon 3 | 171,636,131 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y479H | c.1435T>C | Exon 3 | 171,636,005 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |