single nucleotide variant | NM_000552.5(VWF):c.449T>C (p.Leu150Pro) | VWF | Likely pathogenic | 12 | 6219623 | 6219623 | A | G | criteria provided, single submitter | ClinGen:CA228603 |
single nucleotide variant | NM_000552.5(VWF):c.4384C>G (p.Pro1462Ala) | VWF | Likely pathogenic | 12 | 6128200 | 6128200 | G | C | criteria provided, single submitter | ClinGen:CA228590 |
single nucleotide variant | NM_000552.5(VWF):c.4309G>A (p.Ala1437Thr) | VWF | Likely pathogenic | 12 | 6128275 | 6128275 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA228575 |
single nucleotide variant | NM_000552.5(VWF):c.4273A>T (p.Ile1425Phe) | VWF | Likely pathogenic | 12 | 6128311 | 6128311 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA228573 |
single nucleotide variant | NM_000552.5(VWF):c.4247T>A (p.Ile1416Asn) | VWF | Likely pathogenic | 12 | 6128337 | 6128337 | A | T | criteria provided, single submitter | ClinGen:CA228569 |
single nucleotide variant | NM_000552.5(VWF):c.4082T>C (p.Leu1361Ser) | VWF | Likely pathogenic | 12 | 6128502 | 6128502 | A | G | criteria provided, single submitter | ClinGen:CA228528 |
single nucleotide variant | NM_000552.5(VWF):c.4022G>C (p.Arg1341Pro) | VWF | Likely pathogenic | 12 | 6128562 | 6128562 | C | G | criteria provided, single submitter | ClinGen:CA228516 |
single nucleotide variant | NM_000552.5(VWF):c.4010C>T (p.Pro1337Leu) | VWF | Likely pathogenic | 12 | 6128574 | 6128574 | G | A | criteria provided, single submitter | ClinGen:CA228510 |
single nucleotide variant | NM_000552.5(VWF):c.3940G>T (p.Val1314Phe) | VWF | Likely pathogenic | 12 | 6128644 | 6128644 | C | A | criteria provided, single submitter | ClinGen:CA228498 |
Duplication | NM_000552.5(VWF):c.3839_3845dup (p.Asp1283fs) | VWF | Likely pathogenic | 12 | 6128738 | 6128739 | C | CAGCAGGA | criteria provided, single submitter | ClinGen:CA228463 |