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Links from MedGen

Items: 1 to 100 of 229

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VWF
(A873V)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GUncertain significance
VWF
(C1173R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GUncertain significance
VWF
(Y629S)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GUncertain significance
VWF
(C1126R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GUncertain significance
VWF
(V1083I)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GUncertain significance
VWF
(A1250G)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
+1 more
GUncertain significance
VWF
(V2465M)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GLikely pathogenic
VWF
(C1190F)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GLikely pathogenic
VWF
(C1177Y)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GUncertain significance
VWF
Single nucleotide variant
(intron variant)
von Willebrand disease type 2
GUncertain significance
VWF
(R1569C)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
+1 more
GUncertain significance
VWF
Single nucleotide variant
(intron variant)
von Willebrand disease type 2
GUncertain significance
VWF
Single nucleotide variant
(intron variant)
von Willebrand disease type 2
GUncertain significance
VWF
(D437E)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GUncertain significance
VWF
(R447W)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
+1 more
GUncertain significance
VWF
(G1417W)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GLikely pathogenic
VWF
(F1654I)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GUncertain significance
VWF
(Y1542C)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GLikely pathogenic
VWF
(L1422R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GUncertain significance
VWF
(N1421K)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GLikely pathogenic
VWF
(L1282P)
Single nucleotide variant
(missense variant)
Von Willebrand disease type 2B
+2 more
GConflicting classifications of pathogenicity
VWF
(C570R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GLikely pathogenic
VWF
(L1657P)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GLikely pathogenic
VWF
Indel
von Willebrand disease type 2
GUncertain significance
VWF
Indel
von Willebrand disease type 2
GUncertain significance
VWF
Indel
von Willebrand disease type 2
GUncertain significance
VWF
Indel
von Willebrand disease type 2
GUncertain significance
VWF
Indel
von Willebrand disease type 2
GUncertain significance
VWF
Indel
von Willebrand disease type 2
GUncertain significance
VWF
Indel
von Willebrand disease type 2
GUncertain significance
VWF
Indel
von Willebrand disease type 2
GUncertain significance
VWF
Indel
von Willebrand disease type 2
GUncertain significance
VWF
Single nucleotide variant
(splice acceptor variant)
von Willebrand disease type 2
GPathogenic
VWF
Single nucleotide variant
(intron variant)
von Willebrand disease type 2
GLikely pathogenic
VWF
(I1628N)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GPathogenic
VWF
(L893R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GUncertain significance
VWF
(Y1780N)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GUncertain significance
VWF
(V1820E)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GUncertain significance
VWF
(A1716P)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GLikely pathogenic
VWF
(S1731L)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GUncertain significance
VWF
Deletion
(inframe_deletion)
von Willebrand disease type 2
GPathogenic
VWF
(R1426P)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GUncertain significance
VWF
(L1278P)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GUncertain significance
VWF
(D1283H)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GUncertain significance
VWF
(S1310P)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GLikely pathogenic
VWF
(G1172V)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GLikely pathogenic
VWF
(C849Y)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GLikely pathogenic
VWF
(G1629R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GLikely pathogenic
VWF
(R1583Q)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GLikely benign
VWF
(L1281R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GUncertain significance
VWF
(C1142F)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GUncertain significance
VWF
(C1130Y)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GLikely pathogenic
VWF
(D366fs)
Microsatellite
(frameshift variant)
von Willebrand disease type 2
GPathogenic
VWF
(T1578N)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GPathogenic
VWF
(S1517R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GLikely pathogenic
VWF
(R1308L)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GLikely pathogenic
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
(S1517R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VWF
(M50V)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GUncertain significance
VWF
(D1891E)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
+3 more
GUncertain significance
VWF
(W191G)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GUncertain significance
VWF
(S1699F)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GLikely pathogenic
VWF
(H2009Y)
Single nucleotide variant
(missense variant)
von Willebrand disease type 3
+2 more
GUncertain significance
VWF
Single nucleotide variant
(splice donor variant)
von Willebrand disease type 2
GUncertain significance
VWF
Single nucleotide variant
(splice donor variant)
von Willebrand disease type 2
GPathogenic
VWF
Single nucleotide variant
(synonymous variant)
von Willebrand disease type 1
+3 more
GLikely benign
VWF
(R1564W)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
VWF
(C1126Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWF
(V2540A)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
+3 more
GUncertain significance
VWF
(R2185W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
VWF
Deletion
(inframe_indel)
von Willebrand disease type 2
GLikely pathogenic
VWF
(V1546G)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GLikely pathogenic
VWF
(L536P)
Single nucleotide variant
(missense variant)
von Willebrand disorder
+1 more
GLikely pathogenic
VWF
(L1281P)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
+1 more
GConflicting classifications of pathogenicity
VWF
Single nucleotide variant
(synonymous variant)
von Willebrand disease type 1
+2 more
GPathogenic/Likely pathogenic
VWF
(V2141I)
Single nucleotide variant
(missense variant)
von Willebrand disorder
+1 more
GUncertain significance
VWF
(V1454I)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GUncertain significance
VWF
(Y1321C)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GLikely pathogenic
VWF
(C1190Y)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
+2 more
GConflicting classifications of pathogenicity
VWF
(T1951A)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
VWF
(R202W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VWF
(G967D)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
VWF
(A1377V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VWF
(N2679S)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
+3 more
GUncertain significance
VWF
(T1122M)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
+3 more
GUncertain significance
VWF
(V1499E)
Single nucleotide variant
(missense variant)
not specified
+1 more
GPathogenic
VWF
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
VWF
Single nucleotide variant
(synonymous variant)
von Willebrand disease type 2
+3 more
GBenign/Likely benign
VWF
(I1416T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
VWF
(R402K)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
+3 more
GUncertain significance
VWF
(N857S)
Single nucleotide variant
(missense variant)
von Willebrand disorder
GUncertain significance
VWF
(R606Q)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
VWF
(A542G)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
VWF
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
VWF
(I1380V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
VWF
(N1435S)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
+4 more
GBenign/Likely benign
VWF
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign
VWF
(G2705R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
+4 more
GBenign/Likely benign
VWF
Single nucleotide variant
(intron variant)
von Willebrand disease type 3
+4 more
GBenign/Likely benign
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