single nucleotide variant | NM_000552.5(VWF):c.6536C>T (p.Ser2179Phe) | VWF | Likely pathogenic | 12 | 6103090 | 6103090 | G | A | criteria provided, single submitter | ClinGen:CA228746 |
single nucleotide variant | NM_000552.5(VWF):c.6798+1G>T | VWF | Likely pathogenic | 12 | 6100984 | 6100984 | C | A | criteria provided, single submitter | ClinGen:CA228759 |
single nucleotide variant | NM_000552.5(VWF):c.6911G>A (p.Cys2304Tyr) | VWF | Pathogenic | 12 | 6094276 | 6094276 | C | T | criteria provided, single submitter | ClinGen:CA228762 |
single nucleotide variant | NM_000552.5(VWF):c.7056C>T (p.Gly2352=) | VWF | Likely pathogenic | 12 | 6092341 | 6092341 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000552.5(VWF):c.7080C>A (p.Cys2360Ter) | VWF | Pathogenic | 12 | 6092317 | 6092317 | G | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000552.5(VWF):c.7352G>A (p.Cys2451Tyr) | VWF | Likely pathogenic | 12 | 6085362 | 6085362 | C | T | criteria provided, single submitter | - |
Deletion | NM_000552.5(VWF):c.7360_7376del (p.Thr2454fs) | VWF | Pathogenic | 12 | 6085338 | 6085354 | GGCATCCTCCATGTCGGT | G | criteria provided, single submitter | - |
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.7399C>T (p.Gln2467Ter) | VWF | Likely pathogenic | 12 | 6085315 | 6085315 | G | A | 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 |