single nucleotide variant | NM_000552.5(VWF):c.1533+1G>T | VWF | Pathogenic | 12 | 6172119 | 6172119 | C | A | criteria provided, single submitter | ClinGen:CA383500336 |
Deletion | NM_000552.5(VWF):c.1339del (p.Arg447fs) | VWF | Likely pathogenic | 12 | 6173505 | 6173505 | CG | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000552.5(VWF):c.1293+2T>C | VWF | Likely pathogenic | 12 | 6174301 | 6174301 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000552.5(VWF):c.1117C>T (p.Arg373Ter) | VWF | Pathogenic | 12 | 6180502 | 6180502 | G | A | criteria provided, single submitter | ClinGen:CA228261 |
single nucleotide variant | NM_000552.5(VWF):c.1093C>T (p.Arg365Ter) | VWF | Pathogenic | 12 | 6181513 | 6181513 | G | A | criteria provided, single submitter | ClinGen:CA228257 |
single nucleotide variant | NM_000552.5(VWF):c.993C>A (p.Cys331Ter) | VWF | Likely pathogenic | 12 | 6182789 | 6182789 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000552.5(VWF):c.970C>T (p.Arg324Ter) | VWF | Pathogenic/Likely pathogenic | 12 | 6182812 | 6182812 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA228862 |
single nucleotide variant | NM_000552.5(VWF):c.817C>T (p.Arg273Trp) | VWF | Pathogenic | 12 | 6184558 | 6184558 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA228829,UniProtKB:P04275#VAR_010242 |
Deletion | NM_000552.5(VWF):c.788_811del (p.Cys263_Glu270del) | VWF | Likely pathogenic | 12 | 6184564 | 6184587 | TACTCCAGGAGGGCAGGGCAGGCGC | T | criteria provided, single submitter | ClinGen:CA228817 |
Deletion | NM_000552.5(VWF):c.533-48_657+52del | VWF | Likely pathogenic | 12 | 6204574 | 6204798 | TAGATCCAGAAATCACACACCATCCAGGTGCACCCAGGCCAGTCCACACCCACCTTCTGCATTTCCCCAGAGGAGATGTTGCATGAGCTGCTGGGAGGAGATGCCCGTTCACACCACTGTTCTCCACTGCTCAGAGCCCATGAGTTGGCAAAGTCATAAGGGTCCGAGGTCAAGGTCCCTGTGGAGGAAAGTTTCAGGAAAGTAATGCTTCAGTTATGCCTGTCCC | T | criteria provided, single submitter | - |