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.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.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.55G>A (p.Gly19Arg) | VWF | Likely pathogenic | 12 | 6232308 | 6232308 | C | T | criteria provided, single submitter | ClinGen:CA228729 |
single nucleotide variant | NM_000552.5(VWF):c.5321T>C (p.Leu1774Ser) | VWF | Likely pathogenic | 12 | 6125389 | 6125389 | A | G | criteria provided, single submitter | ClinGen:CA228710 |
single nucleotide variant | NM_000552.5(VWF):c.4717G>A (p.Gly1573Ser) | VWF | Likely pathogenic | 12 | 6127867 | 6127867 | C | T | criteria provided, single submitter | ClinGen:CA228643 |
single nucleotide variant | NM_000552.5(VWF):c.4667A>G (p.Gln1556Arg) | VWF | Likely pathogenic | 12 | 6127917 | 6127917 | T | C | criteria provided, single submitter | ClinGen:CA228635 |
single nucleotide variant | NM_000552.5(VWF):c.4645G>A (p.Glu1549Lys) | VWF | Likely pathogenic | 12 | 6127939 | 6127939 | C | T | criteria provided, single submitter | ClinGen:CA228633 |
Deletion | NM_000552.5(VWF):c.4604_4612del (p.Ile1535_Val1537del) | VWF | Likely pathogenic | 12 | 6127972 | 6127980 | GTGACGTGGA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA228620 |
single nucleotide variant | NM_000552.5(VWF):c.4508T>A (p.Leu1503Gln) | VWF | Likely pathogenic | 12 | 6128076 | 6128076 | A | T | criteria provided, single submitter | ClinGen:CA228605 |