Variants
MYO7A variants
The 19 MYO7A 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 |
|---|---|---|---|---|---|
| A1288P | c.3862G>C | Exon 30 | 77,190,808 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E968D | c.2904G>T | Exon 23 | 77,181,589 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G2187D | c.6560G>A | Exon 49 | 77,214,608 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H133N | c.397C>A | Exon 5 | 77,156,018 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I134N | c.401T>A | Exon 5 | 77,156,022 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K2021R | c.6062A>G | Exon 45 | 77,211,162 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L326Q | c.977T>A | Exon 9 | 77,158,404 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L1935P | c.5804T>C | Exon 42 | 77,207,350 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| N1182K | c.3546C>A | Exon 28 | 77,189,386 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R395C | c.1183C>T | Exon 11 | 77,160,265 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R668C | c.2002C>T | Exon 17 | 77,174,822 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R853H | c.2558G>A | Exon 21 | 77,179,925 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1168Q | c.3503G>A | Exon 27 | 77,184,715 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1873Q | c.5618G>A | Exon 40 | 77,205,599 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S211G | c.631A>G | Exon 7 | 77,156,900 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S617P | c.1849T>C | Exon 16 | 77,172,799 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| T2109I | c.6326C>T | Exon 46 | 77,211,909 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V1372G | c.4115T>G | Exon 31 | 77,192,241 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y403C | c.1208A>G | Exon 12 | 77,160,980 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |