Location and evaluation of pathogenicity of selected variants within the VWF gene
| No. . | HGVS.c . | HGVS.p . | VWF . | Novel . | ClinVar . | ACMG . | Seidizadeh et al25 . | ||
|---|---|---|---|---|---|---|---|---|---|
| Exon . | Pseudogene . | Domain . | |||||||
| 1 | c.902A>G | p.Tyr301Cys | 8 | — | D1 | — | — | Likely pathogenic | — |
| 2 | c.1135T>G | p.Cys379Gly | 10 | — | D1 | — | — | Uncertain significance | Yes |
| 3 | c.1150T>C | p.Cys384Arg | 10 | — | D1 | — | — | Likely pathogenic | Yes |
| 4 | c.1198G>C | p.Asp400His | 11 | — | D2 | Yes | — | Likely pathogenic | — |
| 5 | c.1312G>A | p.Ala438Thr | 12 | — | D2 | — | — | Uncertain significance | Yes |
| 6 | c.1788T>A | p.His596Gln | 15 | — | D2 | — | — | Likely pathogenic | — |
| 7 | c.1862G>C | p.Cys621Ser | 15 | — | D2 | — | Uncertain significance | Likely pathogenic | — |
| 8 | c.2137G>A | p.Gly713Ser | 16 | — | D2 | — | — | Uncertain significance | — |
| 9 | c.2344C>T | p.Arg782Trp | 18 | — | D' | — | Uncertain significance | Uncertain significance | Yes |
| 10 | c.2771_2775delGGGTC | p.Arg924HisfsTer10 | 21 | — | — | — | — | Likely pathogenic | — |
| 11 | c.2777_2778insTT | p.Ile927SerfsTer16 | 21 | — | — | — | — | Likely pathogenic | — |
| 12 | c.2819A>G | p.Glu940Gly | 21 | — | D3 | — | — | Likely pathogenic | — |
| 13 | c.3433C>T | p.Arg1145Cys | 26 | No | D3 | — | — | Uncertain significance | — |
| 14 | c.3797C>A | p.Pro1266Gln | 28 | No | D3 | — | — | Likely benign | Yes |
| 15 | c.3923G>A | p.Arg1308His | 28 | No | A1 | — | — | Likely pathogenic | Yes |
| 16 | c.3931C>T | p.Gln1311Ter | 28 | Yes | — | — | Pathogenic | Pathogenic | Yes |
| 17 | c.4382C>T | p.Ala1461Val | 28 | No | A1 | — | — | Likely pathogenic | — |
| 18 | c.5014G>A | p.Gly1672Arg | 28 | No | A2 | — | Uncertain significance | Likely benign | Yes |
| 19 | c.5093delG | p.Gly1698AlafsTer13 | 29 | No | — | — | — | Likely pathogenic | — |
| 20 | c.5335C>T | p.Arg1779Ter | 31 | No | — | — | Pathogenic | Pathogenic | Yes |
| 21 | c.5620+2T>G | — | — | No | — | — | — | Likely pathogenic | — |
| 22 | c.5827C>T | p.Arg1943Cys | 34 | No | D4 | Yes | — | Uncertain significance | — |
| 23 | c.5840C>T | p.Pro1947Leu | 34 | No | D4 | — | — | Pathogenic | — |
| 24 | c.6311C>T | p.Thr2104Ile | 37 | — | D4 | — | Uncertain significance | Uncertain significance | Yes |
| 25 | c.7080C>A | p.Cys2360Ter | 41 | — | — | — | Pathogenic | Pathogenic | — |
| 26 | c.7361C>A | p.Thr2454Asn | 43 | — | C3 | — | — | Uncertain significance | Yes |
| 27 | c.7400A>G | p.Gln2467Arg | 43 | — | C3 | — | — | Uncertain significance | — |
| 28 | c.7558C>T | p.Gln2520Ter | 45 | — | — | — | — | Likely pathogenic | Yes |
| 29 | c.8113G>A | p.Gly2705Arg | 49 | — | C6 | — | Benign/Likely benign | Benign | — |
| No. . | HGVS.c . | HGVS.p . | VWF . | Novel . | ClinVar . | ACMG . | Seidizadeh et al25 . | ||
|---|---|---|---|---|---|---|---|---|---|
| Exon . | Pseudogene . | Domain . | |||||||
| 1 | c.902A>G | p.Tyr301Cys | 8 | — | D1 | — | — | Likely pathogenic | — |
| 2 | c.1135T>G | p.Cys379Gly | 10 | — | D1 | — | — | Uncertain significance | Yes |
| 3 | c.1150T>C | p.Cys384Arg | 10 | — | D1 | — | — | Likely pathogenic | Yes |
| 4 | c.1198G>C | p.Asp400His | 11 | — | D2 | Yes | — | Likely pathogenic | — |
| 5 | c.1312G>A | p.Ala438Thr | 12 | — | D2 | — | — | Uncertain significance | Yes |
| 6 | c.1788T>A | p.His596Gln | 15 | — | D2 | — | — | Likely pathogenic | — |
| 7 | c.1862G>C | p.Cys621Ser | 15 | — | D2 | — | Uncertain significance | Likely pathogenic | — |
| 8 | c.2137G>A | p.Gly713Ser | 16 | — | D2 | — | — | Uncertain significance | — |
| 9 | c.2344C>T | p.Arg782Trp | 18 | — | D' | — | Uncertain significance | Uncertain significance | Yes |
| 10 | c.2771_2775delGGGTC | p.Arg924HisfsTer10 | 21 | — | — | — | — | Likely pathogenic | — |
| 11 | c.2777_2778insTT | p.Ile927SerfsTer16 | 21 | — | — | — | — | Likely pathogenic | — |
| 12 | c.2819A>G | p.Glu940Gly | 21 | — | D3 | — | — | Likely pathogenic | — |
| 13 | c.3433C>T | p.Arg1145Cys | 26 | No | D3 | — | — | Uncertain significance | — |
| 14 | c.3797C>A | p.Pro1266Gln | 28 | No | D3 | — | — | Likely benign | Yes |
| 15 | c.3923G>A | p.Arg1308His | 28 | No | A1 | — | — | Likely pathogenic | Yes |
| 16 | c.3931C>T | p.Gln1311Ter | 28 | Yes | — | — | Pathogenic | Pathogenic | Yes |
| 17 | c.4382C>T | p.Ala1461Val | 28 | No | A1 | — | — | Likely pathogenic | — |
| 18 | c.5014G>A | p.Gly1672Arg | 28 | No | A2 | — | Uncertain significance | Likely benign | Yes |
| 19 | c.5093delG | p.Gly1698AlafsTer13 | 29 | No | — | — | — | Likely pathogenic | — |
| 20 | c.5335C>T | p.Arg1779Ter | 31 | No | — | — | Pathogenic | Pathogenic | Yes |
| 21 | c.5620+2T>G | — | — | No | — | — | — | Likely pathogenic | — |
| 22 | c.5827C>T | p.Arg1943Cys | 34 | No | D4 | Yes | — | Uncertain significance | — |
| 23 | c.5840C>T | p.Pro1947Leu | 34 | No | D4 | — | — | Pathogenic | — |
| 24 | c.6311C>T | p.Thr2104Ile | 37 | — | D4 | — | Uncertain significance | Uncertain significance | Yes |
| 25 | c.7080C>A | p.Cys2360Ter | 41 | — | — | — | Pathogenic | Pathogenic | — |
| 26 | c.7361C>A | p.Thr2454Asn | 43 | — | C3 | — | — | Uncertain significance | Yes |
| 27 | c.7400A>G | p.Gln2467Arg | 43 | — | C3 | — | — | Uncertain significance | — |
| 28 | c.7558C>T | p.Gln2520Ter | 45 | — | — | — | — | Likely pathogenic | Yes |
| 29 | c.8113G>A | p.Gly2705Arg | 49 | — | C6 | — | Benign/Likely benign | Benign | — |
“Seidizadeh et al” indicates whether described in the study of Seidizadeh et al,25 which was conducted using similar analysis.
ACMG, American College of Medical Genetics and Genomics variant classification.