NM_000552.5(VWF):c.4082T>C (p.Leu1361Ser)Likely pathogenic
not provided|not specified|Hereditary von Willebrand disease|von Willebrand disease type 2M
β
β
β
β2025β Residue 1361
NM_000552.5(VWF):c.4541T>G (p.Phe1514Cys)Likely pathogenic
Von Willebrand disease type 2A|not provided
β
β
β
β2025β Residue 1514
NM_000552.5(VWF):c.4213AAG[3] (p.Lys1408del)Pathogenic
not provided|von Willebrand disease type 2M|von Willebrand disease type 2|Hereditary von Willebrand disease|von Willebrand disease type 1|VWF-related disorder
β
β
β
β2025β Residue 1408
NM_000552.5(VWF):c.4021C>T (p.Arg1341Trp)Pathogenic
not provided|von Willebrand disease type 2|von Willebrand disease type 1|Hereditary von Willebrand disease|Von Willebrand disease type 2B
β
β
β
β2025β Residue 1341
NM_000552.5(VWF):c.5347T>G (p.Ser1783Ala)Likely pathogenic
von Willebrand disease type 2|not provided|not specified|von Willebrand disease type 2M
β
β
β
β2025β Residue 1783
NM_000552.5(VWF):c.4010C>T (p.Pro1337Leu)Likely pathogenic
not provided|von Willebrand disease type 2|von Willebrand disease type 1|Von Willebrand disease type 2B
β
β
β
β2025β Residue 1337
NM_000552.5(VWF):c.4825G>A (p.Gly1609Arg)Pathogenic
not provided|von Willebrand disease type 2|Hereditary von Willebrand disease|Von Willebrand disease type 2A
β
β
β
β2025β Residue 1609
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys)Pathogenic
not provided|Hereditary von Willebrand disease|von Willebrand disease type 2|von Willebrand disorder|von Willebrand disease type 2M
β
β
β
β2025β Residue 1399
NM_000552.5(VWF):c.4885G>A (p.Gly1629Arg)Pathogenic
not provided|Von Willebrand disease type 2A
β
β
β
β2025β Residue 1629
NM_000552.5(VWF):c.3568T>C (p.Cys1190Arg)Pathogenic
not provided|Hereditary von Willebrand disease|von Willebrand disease type 3|von Willebrand disease type 1|Von Willebrand disease type 2A
β
β
β
β2025β Residue 1190
NM_000552.5(VWF):c.3926T>A (p.Ile1309Asn)Likely pathogenic
Hereditary von Willebrand disease|Von Willebrand disease type 2B
β
β
β
β2025β Residue 1309
NM_000552.5(VWF):c.4885G>C (p.Gly1629Arg)Pathogenic
von Willebrand disease type 2|Von Willebrand disease type 2A
β
β
β
β2025β Residue 1629
NM_000552.5(VWF):c.3569G>A (p.Cys1190Tyr)Pathogenic
von Willebrand disease type 2|Reduced von Willebrand factor activity|von Willebrand disease type 1|not specified|Von Willebrand disease type 2A
β
β
β
β2025β Residue 1190
NM_000552.5(VWF):c.4606_4611del (p.His1536_Val1537del)Likely pathogenic
von Willebrand disease type 2|Von Willebrand disease type 2A
β
β
β
β2025β Residue 1536
NM_000552.5(VWF):c.3569G>T (p.Cys1190Phe)Likely pathogenic
von Willebrand disease type 2|Von Willebrand disease type 2A
β
β
β
β2025β Residue 1190
NM_000552.5(VWF):c.3944G>T (p.Arg1315Leu)Likely pathogenic
not provided|von Willebrand disease type 2
β
β
β
β2025β Residue 1315
NM_000552.5(VWF):c.3939G>C (p.Trp1313Cys)Likely pathogenic
Von Willebrand disease type 2B|not provided
β
β
β
β2025β Residue 1313
NM_000552.5(VWF):c.3831_3833del (p.Asp1277_Leu1278delinsGlu)Likely pathogenic
not provided|von Willebrand disease type 2
β
β
β
β2025β Residue 1277
NM_000552.5(VWF):c.3925A>G (p.Ile1309Val)Pathogenic
not provided|Hereditary von Willebrand disease|von Willebrand disease type 2|Von Willebrand disease type 2B
β
β
β
β2025β Residue 1309
NM_000552.5(VWF):c.2411G>T (p.Cys804Phe)Likely pathogenic
von Willebrand disease type 2N|not provided
β
β
β
β2025β Residue 804