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 |
single nucleotide variant | NM_000552.5(VWF):c.4931G>A (p.Trp1644Ter) | VWF | Pathogenic/Likely pathogenic | 12 | 6127653 | 6127653 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter) | VWF | Pathogenic | 12 | 6127609 | 6127609 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA114141,OMIM:613160.0015 |
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.5335C>T (p.Arg1779Ter) | VWF | Pathogenic | 12 | 6125375 | 6125375 | G | A | criteria provided, single submitter | ClinGen:CA228713 |
single nucleotide variant | NM_000552.5(VWF):c.5380A>G (p.Lys1794Glu) | VWF | Pathogenic | 12 | 6125330 | 6125330 | T | C | criteria provided, single submitter | ClinGen:CA228719 |
single nucleotide variant | NM_000552.5(VWF):c.5471C>G (p.Pro1824Arg) | VWF | Likely pathogenic | 12 | 6122796 | 6122796 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter) | VWF | Pathogenic | 12 | 6122710 | 6122710 | G | A | criteria provided, multiple submitters, no conflicts | OMIM:613160.0016,ClinGen:CA114143 |
Deletion | NM_000552.5(VWF):c.5621-47_5842+51del | VWF | Pathogenic | 12 | 6120732 | 6121343 | TAAAAGCACTGCCCCTTTGACGCTGCCCTGGCTGGAGAAGCAAAGGACTCACAGGGGCAGGTCCAGCGGCAGCCACAGGTCTCTTCCACTTTAACAGGGGACTGGCTGTTAGGGCACGAAGGCCTCAGCCCCCGGTCACAGTTGACCCGATGACTCTTCAGCAAGGTCTGGCCATCTGGCTGGCAAGTCACGGTGTGGCACTGGTCTGGCAAGGTCCAGACGTCCCCGGGCTGCAGAAGAAAACAGCAGATTCAGGCAGGGAATAAGATGAGGTACTCCAACTCTAAGCCCATCTGCCAGACAACTGACCCCTAGAATTGAACACAGGCCTACACAGCAAGGAGGCCCCCTGTACATGAGACAGGAAGCAAAACACAAGATGTACAGATGGACCCGCAAAAACAAGATAATAGTAAAAGGAAGCACTGGACTAAGACCAAAGGAGGAAAAATTAACCAGTGGGAACAAGAGCCCCAAACACATCTCTAACCTTTCTTTCAAAGTCAACAGAAAGGAACTTACCCTCTTCTCATTCCCATCCTCATCCATGCAAATCCTAACAAATCCTGCAACAGACACAAATAAGACCTTAGTTCCCATCTTTCACCCAGAA | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000552.5(VWF):c.6488G>A (p.Cys2163Tyr) | VWF | Likely pathogenic | 12 | 6103138 | 6103138 | C | T | criteria provided, single submitter | - |