Variants
VWF variants
The 59 VWF 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 |
|---|---|---|---|---|---|
| c.4885G>C | Exon 28 | 6,018,533 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C804F | c.2411G>T | Exon 18 | 6,044,322 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C849Y | c.2546G>A | Exon 19 | 6,036,388 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1060R | c.3178T>C | Exon 24 | 6,025,624 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1149R | c.3445T>C | Exon 26 | 6,022,833 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1190F | c.3569G>T | Exon 27 | 6,022,005 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1190R | c.3568T>C | Exon 27 | 6,022,006 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1190Y | c.3569G>A | Exon 27 | 6,022,005 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C2773R | c.8317T>C | Exon 52 | 5,949,140 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C2773S | c.8318G>C | Exon 52 | 5,949,139 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D879E | c.2637C>A | Exon 20 | 6,034,736 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D879N | c.2635G>A | Exon 20 | 6,034,738 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D1277_L1278delinsE | c.3831_3833del | Exon 28 | 6,019,584 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D1529_V1530del | c.4586_4591del | Exon 28 | 6,018,826 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F404_T405insNP | c.1213_1214insATCCCA | Exon 11 | 6,065,216 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F1514C | c.4541T>G | Exon 28 | 6,018,877 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G1324A | c.3971G>C | Exon 28 | 6,019,447 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G1324S | c.3970G>A | Exon 28 | 6,019,448 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G1415D | c.4244G>A | Exon 28 | 6,019,174 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G1609R | c.4825G>A | Exon 28 | 6,018,593 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G1629R | c.4885G>A | Exon 28 | 6,018,533 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H1268D | c.3802C>G | Exon 28 | 6,019,616 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H1536_V1537del | c.4606_4611del | Exon 28 | 6,018,806 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I1309N | c.3926T>A | Exon 28 | 6,019,492 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I1309V | c.3925A>G | Exon 28 | 6,019,493 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I1628T | c.4883T>C | Exon 28 | 6,018,535 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K1408del | c.4222_4224del | Exon 28 | 6,019,193 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L1361S | c.4082T>C | Exon 28 | 6,019,336 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| N528S | c.1583A>G | Exon 14 | 6,057,995 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P1337L | c.4010C>T | Exon 28 | 6,019,408 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R324X | c.970C>T | Exon 8 | 6,073,646 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R760C | c.2278C>T | Exon 17 | 6,046,726 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R816W | c.2446C>T | Exon 19 | 6,036,488 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R854Q | c.2561G>A | Exon 20 | 6,034,812 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1306W | c.3916C>T | Exon 28 | 6,019,502 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1308C | c.3922C>T | Exon 28 | 6,019,496 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1315H | c.3944G>A | Exon 28 | 6,019,474 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1315L | c.3944G>T | Exon 28 | 6,019,474 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1334W | c.4000C>T | Exon 28 | 6,019,418 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1341Q | c.4022G>A | Exon 28 | 6,019,396 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1341W | c.4021C>T | Exon 28 | 6,019,397 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1374H | c.4121G>A | Exon 28 | 6,019,297 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1399C | c.4195C>T | Exon 28 | 6,019,223 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1597W | c.4789C>T | Exon 28 | 6,018,629 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1659X | c.4975C>T | Exon 28 | 6,018,443 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S1285F | c.3854C>T | Exon 28 | 6,019,564 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S1310F | c.3929C>T | Exon 28 | 6,019,489 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S1783A | c.5347T>G | Exon 31 | 6,016,197 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| T791M | c.2372C>T | Exon 18 | 6,044,361 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T1578N | c.4733C>A | Exon 28 | 6,018,685 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V1314D | c.3941T>A | Exon 28 | 6,019,477 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V1314F | c.3940G>T | Exon 28 | 6,019,478 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V1314L | c.3940G>C | Exon 28 | 6,019,478 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V1316M | c.3946G>A | Exon 28 | 6,019,472 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V1409F | c.4225G>T | Exon 28 | 6,019,193 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| W1313C | c.3939G>C | Exon 28 | 6,019,479 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| W1745C | c.5235G>T | Exon 30 | 6,016,592 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y795C | c.2384A>G | Exon 18 | 6,044,349 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y1146C | c.3437A>G | Exon 26 | 6,022,841 | Pathogenic | 3 stars out of 4 reviewed by expert panel |