Deletion | NM_000552.5(VWF):c.7863del (p.Thr2622fs) | VWF | Likely pathogenic | 12 | 6076676 | 6076676 | TC | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000552.5(VWF):c.7732C>T (p.Arg2578Cys) | VWF | Likely pathogenic | 12 | 6077331 | 6077331 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000552.5(VWF):c.7730-1G>T | VWF | Likely pathogenic | 12 | 6077334 | 6077334 | C | A | criteria provided, single submitter | - |
Insertion | NM_000552.5(VWF):c.7664_7665insAG (p.Cys2557fs) | VWF | Likely pathogenic | 12 | 6078441 | 6078442 | A | ACT | criteria provided, single submitter | ClinGen:CA228812 |
single nucleotide variant | NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter) | VWF | Pathogenic | 12 | 6078503 | 6078503 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA114145,OMIM:613160.0017 |
Deletion | NM_000552.5(VWF):c.7525del (p.Asp2509fs) | VWF | Likely pathogenic | 12 | 6080788 | 6080788 | TC | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000552.5(VWF):c.7464C>T (p.Gly2488=) | VWF | Likely pathogenic | 12 | 6080849 | 6080849 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000552.5(VWF):c.7450G>A (p.Val2484Ile) | VWF | Likely pathogenic | 12 | 6080863 | 6080863 | C | T | criteria provided, single submitter | - |
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.7399C>T (p.Gln2467Ter) | VWF | Likely pathogenic | 12 | 6085315 | 6085315 | G | A | criteria provided, single submitter | - |