Duplication | NM_000552.5(VWF):c.50dup (p.Leu17fs) | VWF | Pathogenic/Likely pathogenic | 12 | 6232312 | 6232313 | C | CA | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000552.5(VWF):c.3390C>T (p.Cys1130=) | VWF | Pathogenic/Likely pathogenic | 12 | 6132054 | 6132054 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000552.5(VWF):c.4931G>A (p.Trp1644Ter) | VWF | Pathogenic/Likely pathogenic | 12 | 6127653 | 6127653 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000552.5(VWF):c.4247T>C (p.Ile1416Thr) | VWF | Pathogenic/Likely pathogenic | 12 | 6128337 | 6128337 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA383503536 |
single nucleotide variant | NM_000552.5(VWF):c.970C>T (p.Arg324Ter) | VWF | Pathogenic/Likely pathogenic | 12 | 6182812 | 6182812 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA228862 |
single nucleotide variant | NM_000552.5(VWF):c.7408C>T (p.Gln2470Ter) | VWF | Pathogenic/Likely pathogenic | 12 | 6085306 | 6085306 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA228790 |
single nucleotide variant | NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys) | VWF | Pathogenic/Likely pathogenic | 12 | 6085324 | 6085324 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA228786 |
single nucleotide variant | NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu) | VWF | Pathogenic/Likely pathogenic | 12 | 6128067 | 6128067 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA228615 |
single nucleotide variant | NM_000552.5(VWF):c.421G>A (p.Asp141Asn) | VWF | Pathogenic/Likely pathogenic | 12 | 6219651 | 6219651 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA228557 |
single nucleotide variant | NM_000552.5(VWF):c.4121G>T (p.Arg1374Leu) | VWF | Pathogenic/Likely pathogenic | 12 | 6128463 | 6128463 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA228543 |