single nucleotide variant | NM_000552.5(VWF):c.2446C>T (p.Arg816Trp) | VWF | Pathogenic/Likely pathogenic | 12 | 6145654 | 6145654 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA114137,UniProtKB:P04275#VAR_005787,OMIM:613160.0012 |
single nucleotide variant | NM_000552.5(VWF):c.2372C>T (p.Thr791Met) | VWF | Pathogenic/Likely pathogenic | 12 | 6153527 | 6153527 | G | A | criteria provided, multiple submitters, no conflicts | OMIM:613160.0011,ClinGen:CA114135,UniProtKB:P04275#VAR_005786 |
single nucleotide variant | NM_000552.5(VWF):c.4022G>A (p.Arg1341Gln) | VWF | Pathogenic | 12 | 6128562 | 6128562 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA114129,UniProtKB:P04275#VAR_005801,OMIM:613160.0008 |
single nucleotide variant | NM_000552.5(VWF):c.3946G>A (p.Val1316Met) | VWF | Pathogenic | 12 | 6128638 | 6128638 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA114127,UniProtKB:P04275#VAR_005798,OMIM:613160.0007 |
single nucleotide variant | NM_000552.5(VWF):c.3922C>T (p.Arg1308Cys) | VWF | Pathogenic | 12 | 6128662 | 6128662 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA114125,UniProtKB:P04275#VAR_005795,OMIM:613160.0006 |
single nucleotide variant | NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp) | VWF | Pathogenic/Likely pathogenic | 12 | 6128668 | 6128668 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA114123,UniProtKB:P04275#VAR_005794,OMIM:613160.0005 |
single nucleotide variant | NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp) | VWF | Pathogenic/Likely pathogenic | 12 | 6127795 | 6127795 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA114117,UniProtKB:P04275#VAR_005813,OMIM:613160.0002 |
single nucleotide variant | NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr) | VWF | Pathogenic | 12 | 6127701 | 6127701 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA114115,UniProtKB:P04275#VAR_005817,OMIM:613160.0001 |