Variants
ANO5 variants
The 16 ANO5 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 |
|---|---|---|---|---|---|
| A432G | c.1295C>G | Exon 13 | 22,255,485 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.41-1G>A | Intron 1 | 22,203,803 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1898+1G>A | Intron 17 | 22,263,044 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| D81G | c.242A>G | Exon 5 | 22,221,158 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E36Dfs*7 | c.108_109del | Exon 3 | 22,211,278 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F578S | c.1733T>C | Exon 16 | 22,262,231 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F835del | c.2503_2505del | Exon 21 | 22,276,180 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G231V | c.692G>T | Exon 8 | 22,236,206 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K102Vfs*2 | c.304_308del | Exon 6 | 22,225,988 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L330Ffs*6 | c.989dup | Exon 10 | 22,250,345 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N64Kfs*15 | c.191dup | Exon 5 | 22,221,100 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R50X | c.148C>T | Exon 4 | 22,218,255 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R58W | c.172C>T | Exon 4 | 22,218,279 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R484C | c.1450C>T | Exon 15 | 22,259,561 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R758C | c.2272C>T | Exon 20 | 22,274,605 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y673C | c.2018A>G | Exon 18 | 22,270,431 | Pathogenic | 3 stars out of 4 reviewed by expert panel |