Variants
USH2A variants
The 20 USH2A 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 |
|---|---|---|---|---|---|
| A4740D | c.14219C>A | Exon 65 | 215,650,716 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.5857+2T>C | Intron 29 | 216,072,887 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.8559-2A>G | Intron 42 | 215,877,882 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.8682-9A>G | Intron 43 | 215,867,179 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.12295-3T>A | Intron 62 | 215,675,619 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C319Y | c.956G>A | Exon 6 | 216,325,492 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C620F | c.1859G>T | Exon 11 | 216,289,392 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C694Y | c.2081G>A | Exon 12 | 216,250,989 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C759F | c.2276G>T | Exon 13 | 216,247,118 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1447Qfs*29 | c.4338_4339del | Exon 20 | 216,190,279 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G1861S | c.5581G>A | Exon 28 | 216,073,292 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H4603P | c.13808A>C | Exon 63 | 215,674,103 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I1183Ffs*19 | c.3547_3548del | Exon 17 | 216,199,889 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| N346H | c.1036A>C | Exon 6 | 216,325,412 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1504Kfs*26 | c.4510dup | Exon 21 | 216,175,368 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R3905C | c.11713C>T | Exon 61 | 215,728,383 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R4192C | c.12574C>T | Exon 63 | 215,675,337 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S1136N | c.3407G>A | Exon 17 | 216,200,031 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V1839E | c.5516T>A | Exon 27 | 216,078,145 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y3747X | c.11241C>A | Exon 58 | 215,758,743 | Pathogenic | 3 stars out of 4 reviewed by expert panel |