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Links from MedGen

Items: 1 to 100 of 250

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VWF
(M1055V)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(S2285fs)
Deletion
(frameshift variant)
von Willebrand disease type 1
GLikely pathogenic
VWF
(M1761fs)
Duplication
(frameshift variant)
von Willebrand disease type 1
GLikely pathogenic
VWF
(A1250G)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
+1 more
GUncertain significance
VWF
(P1684R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(G662R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(E90D)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
+1 more
GUncertain significance
VWF
(P1551L)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(Q1448*)
Single nucleotide variant
(nonsense)
von Willebrand disease type 1
GLikely pathogenic
VWF
(G532R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(Q2551fs)
Deletion
(frameshift variant)
von Willebrand disease type 1
GLikely pathogenic
VWF
Single nucleotide variant
(intron variant)
von Willebrand disease type 1
GUncertain significance
VWF
(R1916G)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(I1741T)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(S764N)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
+1 more
GUncertain significance
VWF
(Q2256H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
VWF
(G8R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
+1 more
GUncertain significance
VWF
(V1316L)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(G1631S)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(C2375fs)
Insertion
(frameshift variant)
von Willebrand disease type 1
GLikely pathogenic
VWF
(G2670S)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(L1733P)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
LOC126806115, LOC126806116
+3 more
Deletion
von Willebrand disease type 1
GLikely pathogenic
VWF
Single nucleotide variant
(intron variant)
von Willebrand disease type 1
GUncertain significance
VWF
(C2248Y)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GPathogenic
VWF
Deletion
(nonsense)
von Willebrand disease type 1
GPathogenic
VWF
(D1653fs)
Deletion
(frameshift variant)
von Willebrand disease type 1
GPathogenic
VWF
Deletion
(inframe_deletion)
von Willebrand disease type 1
GLikely pathogenic
VWF
(D534N)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(V1546E)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(C440fs)
Deletion
(frameshift variant)
von Willebrand disease type 1
GPathogenic
VWF
(T1255fs)
Deletion
(frameshift variant)
von Willebrand disease type 1
GPathogenic
VWF
(V241G)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(R236C)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
+1 more
GUncertain significance
VWF
Single nucleotide variant
(splice donor variant)
von Willebrand disease type 1
GPathogenic
VWF
Single nucleotide variant
(intron variant)
von Willebrand disease type 1
GUncertain significance
VWF
(C652F)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GLikely pathogenic
VWF
(R2663C)
Single nucleotide variant
(missense variant)
Von Willebrand disease type 2B
+1 more
GPathogenic/Likely pathogenic
VWF
(Q1931H)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GPathogenic
VWF
(L1696R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GLikely pathogenic
VWF
(A1716P)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GLikely pathogenic
VWF
(C2212fs)
Duplication
(frameshift variant)
von Willebrand disease type 1
GPathogenic
VWF
(C2184Y)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GLikely pathogenic
VWF
(S407R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(R1426H)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(G1631D)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
+1 more
GPathogenic/Likely pathogenic
VWF
Single nucleotide variant
(synonymous variant)
von Willebrand disease type 1
+4 more
GLikely benign
VWF
(R2507G)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
Deletion
(splice acceptor variant)
von Willebrand disease type 1
GPathogenic
VWF
Single nucleotide variant
(intron variant)
von Willebrand disease type 1
GPathogenic
VWF
(Q895R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GPathogenic
VWF
Single nucleotide variant
(intron variant)
von Willebrand disease type 1
GPathogenic
VWF
Indel
(splice acceptor variant)
von Willebrand disease type 1
GPathogenic
VWF
Single nucleotide variant
(splice donor variant)
von Willebrand disease type 1
GPathogenic
VWF
(R108*)
Single nucleotide variant
(nonsense)
von Willebrand disease type 1
GPathogenic
VWF
(S2179P)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GPathogenic
VWF
Single nucleotide variant
(splice acceptor variant)
von Willebrand disease type 1
GPathogenic
VWF
(D1891E)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
+3 more
GUncertain significance
VWF
(Y2483C)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(V1230I)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(D1269V)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(D1269fs)
Insertion
(frameshift variant)
von Willebrand disease type 1
GLikely pathogenic
VWF
(D1269E)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(Q1388R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(D1472fs)
Deletion
(frameshift variant)
von Willebrand disease type 1
GLikely pathogenic
VWF
(D1472fs)
Deletion
(frameshift variant)
von Willebrand disease type 1
GPathogenic
VWF
(R1641K)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(I1677V)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(Q1898H)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(T1910I)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(G1922E)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(N2041K)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(I2046V)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(E2149G)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(C2150S)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(K2152R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(S2226F)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(P2372S)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(S2401A)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(C2571Y)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(Q2732R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(A2801T)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(A192V)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(I317fs)
Deletion
(frameshift variant)
von Willebrand disease type 1
GLikely pathogenic
VWF
(M320I)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
Single nucleotide variant
(splice acceptor variant)
von Willebrand disease type 1
GPathogenic
VWF
Single nucleotide variant
(splice acceptor variant)
von Willebrand disease type 1
GPathogenic
VWF
(C615fs)
Duplication
(frameshift variant)
von Willebrand disease type 1
GPathogenic
VWF
(R639H)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(H725R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(M728V)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(G994V)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(Q1053fs)
Duplication
(frameshift variant)
von Willebrand disease type 1
GPathogenic
VWF
(D1096H)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(W1120fs)
Insertion
(frameshift variant)
von Willebrand disease type 1
GLikely pathogenic
VWF
(D2509fs)
Deletion
(frameshift variant)
von Willebrand disease type 1
GPathogenic
VWF
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GConflicting classifications of pathogenicity
VWF
(C325F)
Single nucleotide variant
(missense variant)
von Willebrand disease type 3
+1 more
GUncertain significance
VWF
(D1498N)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(R960W)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
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