U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 259

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VWF
Single nucleotide variant
(intron variant)
von Willebrand disease type 3
GUncertain significance
VWF
Deletion
(splice acceptor variant)
von Willebrand disease type 3
GPathogenic
VWF
Single nucleotide variant
(splice donor variant)
von Willebrand disease type 3
GPathogenic
VWF
(C613W)
Single nucleotide variant
(missense variant)
von Willebrand disease type 3
GUncertain significance
VWF
(W2521*)
Single nucleotide variant
(nonsense)
von Willebrand disease type 3
GPathogenic
VWF
Deletion
(splice acceptor variant)
von Willebrand disease type 3
GPathogenic
VWF
(Y1584*)
Single nucleotide variant
(nonsense)
von Willebrand disease type 3
GPathogenic
VWF
(Y1570*)
Single nucleotide variant
(nonsense)
von Willebrand disease type 3
GPathogenic
VWF
(V515fs)
Insertion
(frameshift variant)
von Willebrand disease type 3
GPathogenic
VWF
(C665fs)
Deletion
(frameshift variant)
von Willebrand disease type 3
GPathogenic
VWF
Single nucleotide variant
(synonymous variant)
von Willebrand disease type 1
+4 more
GLikely benign
VWF
(D1891E)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
+3 more
GUncertain significance
VWF
(E2322fs)
Deletion
(frameshift variant)
von Willebrand disease type 3
GPathogenic
VWF
(C255fs)
Microsatellite
(frameshift variant)
von Willebrand disease type 3
GPathogenic
VWF
(V2540D)
Single nucleotide variant
(missense variant)
von Willebrand disease type 3
GUncertain significance
VWF
(V2540fs)
Deletion
(frameshift variant)
von Willebrand disease type 3
GPathogenic
VWF
(D2509fs)
Deletion
(frameshift variant)
von Willebrand disease type 1
GPathogenic
VWF
(S2505*)
Single nucleotide variant
(nonsense)
von Willebrand disease type 3
GPathogenic
VWF
(V2460fs)
Duplication
(frameshift variant)
von Willebrand disease type 3
GPathogenic
VWF
Single nucleotide variant
(splice donor variant)
von Willebrand disease type 3
GUncertain significance
VWF
(C2394W)
Single nucleotide variant
(missense variant)
von Willebrand disease type 3
GUncertain significance
VWF
(R1136fs)
Deletion
(frameshift variant)
von Willebrand disease type 3
GUncertain significance
VWF
Single nucleotide variant
(splice donor variant)
von Willebrand disease type 3
GUncertain significance
VWF
(W1120*)
Single nucleotide variant
(nonsense)
von Willebrand disease type 3
GPathogenic
VWF
(D1096fs)
Indel
(frameshift variant)
von Willebrand disease type 3
GPathogenic
VWF
Duplication
(splice donor variant)
von Willebrand disease type 3
GUncertain significance
VWF
(Q104fs)
Deletion
(frameshift variant)
von Willebrand disease type 3
GPathogenic
VWF
(Q104*)
Single nucleotide variant
(nonsense)
von Willebrand disease type 3
GPathogenic
VWF
(Q989fs)
Duplication
(frameshift variant)
von Willebrand disease type 3
GPathogenic
VWF
(K968*)
Single nucleotide variant
(nonsense)
von Willebrand disease type 3
GPathogenic
VWF
(S918*)
Single nucleotide variant
(nonsense)
von Willebrand disease type 3
GPathogenic
VWF
(C2325S)
Single nucleotide variant
(missense variant)
von Willebrand disease type 3
GLikely pathogenic
VWF
(L2306fs)
Deletion
(frameshift variant)
von Willebrand disease type 3
GPathogenic
VWF
Single nucleotide variant
(splice donor variant)
von Willebrand disease type 3
GUncertain significance
VWF
(C2283R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 3
GLikely pathogenic
VWF
(E2233K)
Single nucleotide variant
(missense variant)
von Willebrand disease type 3
GUncertain significance
VWF
(C2212R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 3
GLikely pathogenic
VWF
(C2184S)
Single nucleotide variant
(missense variant)
von Willebrand disease type 3
GLikely pathogenic
VWF
(E216*)
Single nucleotide variant
(nonsense)
von Willebrand disease type 3
GPathogenic
VWF
(S2079*)
Single nucleotide variant
(nonsense)
von Willebrand disease type 3
GPathogenic
VWF
(T2076fs)
Deletion
(frameshift variant)
von Willebrand disease type 3
GLikely pathogenic
VWF
(P2063fs)
Deletion
(frameshift variant)
von Willebrand disease type 3
GPathogenic
VWF
Single nucleotide variant
(splice acceptor variant)
von Willebrand disease type 3
GUncertain significance
VWF
(C810*)
Single nucleotide variant
(nonsense)
von Willebrand disease type 3
GPathogenic
VWF
Indel
(nonsense)
von Willebrand disease type 3
GPathogenic
VWF
(S801fs)
Duplication
(frameshift variant)
von Willebrand disease type 3
GPathogenic
VWF
(C799*)
Duplication
(nonsense)
von Willebrand disease type 3
GPathogenic
VWF
(Q793*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
VWF
(C792W)
Single nucleotide variant
(missense variant)
von Willebrand disease type 3
GLikely pathogenic
VWF
(M771V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VWF
(M771fs)
Duplication
(frameshift variant)
von Willebrand disease type 3
GPathogenic
VWF
(M771fs)
Deletion
(frameshift variant)
von Willebrand disease type 3
GPathogenic
VWF
(Q77*)
Single nucleotide variant
(nonsense)
von Willebrand disease type 3
GPathogenic
VWF
Single nucleotide variant
(splice acceptor variant)
von Willebrand disease type 3
GUncertain significance
VWF
Single nucleotide variant
(splice donor variant)
von Willebrand disease type 3
GUncertain significance
VWF
(G1996fs)
Insertion
(frameshift variant)
von Willebrand disease type 3
GPathogenic
VWF
(Q198*)
Single nucleotide variant
(nonsense)
von Willebrand disease type 3
GLikely pathogenic
VWF
(Q1931*)
Single nucleotide variant
(nonsense)
von Willebrand disease type 3
GPathogenic
VWF
(C1927R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 3
GUncertain significance
VWF
Single nucleotide variant
(splice donor variant)
von Willebrand disease type 3
GUncertain significance
VWF
(A1810E)
Single nucleotide variant
(missense variant)
von Willebrand disease type 3
GUncertain significance
VWF
Single nucleotide variant
(intron variant)
von Willebrand disease type 3
GUncertain significance
VWF
Single nucleotide variant
(splice donor variant)
von Willebrand disorder
GLikely pathogenic
VWF
(A1716T)
Single nucleotide variant
(missense variant)
von Willebrand disease type 3
GUncertain significance
VWF
(S1699F)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GLikely pathogenic
VWF
(L1696del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
VWF
(N166K)
Single nucleotide variant
(missense variant)
von Willebrand disease type 3
GUncertain significance
VWF
(G74R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 3
GUncertain significance
VWF
Single nucleotide variant
(splice donor variant)
von Willebrand disease type 3
GUncertain significance
VWF
(P691fs)
Indel
(frameshift variant)
von Willebrand disease type 3
GPathogenic
VWF
(S673fs)
Microsatellite
(frameshift variant)
von Willebrand disease type 3
GPathogenic
VWF
Single nucleotide variant
(splice donor variant)
von Willebrand disease type 3
GUncertain significance
VWF
Deletion
(splice donor variant)
von Willebrand disease type 3
GLikely pathogenic
VWF
Single nucleotide variant
(intron variant)
von Willebrand disease type 3
GUncertain significance
VWF
(Q565*)
Single nucleotide variant
(nonsense)
von Willebrand disease type 3
GPathogenic
VWF
(W553*)
Single nucleotide variant
(nonsense)
von Willebrand disease type 3
GPathogenic
VWF
Deletion
(nonsense)
von Willebrand disease type 3
GPathogenic
VWF
(G525E)
Single nucleotide variant
(missense variant)
von Willebrand disease type 3
GUncertain significance
VWF
(C440*)
Single nucleotide variant
(nonsense)
von Willebrand disease type 3
GPathogenic
VWF
(L414fs)
Duplication
(frameshift variant)
not provided
GPathogenic
VWF
(W377*)
Single nucleotide variant
(nonsense)
von Willebrand disease type 3
GPathogenic
VWF
(C372*)
Single nucleotide variant
(nonsense)
von Willebrand disease type 3
GPathogenic
VWF
(V351fs)
Deletion
(frameshift variant)
von Willebrand disease type 3
GLikely pathogenic
VWF
Deletion
von Willebrand disease type 3
GPathogenic
VWF
Copy number gain
von Willebrand disease type 3
GPathogenic
VWF
Deletion
von Willebrand disease type 3
GPathogenic
VWF
Deletion
von Willebrand disease type 3
GPathogenic
VWF
Deletion
von Willebrand disease type 3
GPathogenic
VWF
Deletion
von Willebrand disease type 3
GPathogenic
VWF
Deletion
von Willebrand disease type 3
GPathogenic
VWF
Deletion
von Willebrand disease type 3
GPathogenic
VWF
Deletion
von Willebrand disease type 3
GPathogenic
VWF
Deletion
von Willebrand disease type 3
GPathogenic
VWF
Indel
von Willebrand disease type 3
GPathogenic
VWF
Indel
von Willebrand disease type 3
GPathogenic
VWF
(S2775P)
Single nucleotide variant
(missense variant)
von Willebrand disease type 3
GUncertain significance
VWF
(C2724Y)
Single nucleotide variant
(missense variant)
von Willebrand disease type 3
GUncertain significance
VWF
Single nucleotide variant
(intron variant)
von Willebrand disease type 3
GLikely pathogenic
VWF
Single nucleotide variant
(intron variant)
von Willebrand disease type 3
GUncertain significance
VWF
Single nucleotide variant
(splice donor variant)
von Willebrand disease type 3
GLikely pathogenic
Format
Items per page
Sort by
Choose Destination