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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VWF
(N2679S)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
+4 more
GUncertain significance
VWF
(T2647M)
Single nucleotide variant
(missense variant)
Hereditary von Willebrand disease
+4 more
GConflicting classifications of pathogenicity
VWF
(V2540A)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
+3 more
GUncertain significance
VWF
(R2287W)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
VWF
(R2185Q)
Single nucleotide variant
(missense variant)
von Willebrand disease type 3
+5 more
GBenign/Likely benign
VWF
(D1891E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
VWF
(I1425F)
Single nucleotide variant
(missense variant)
not provided
+3 more
GLikely pathogenic
VWF
(V1316M)
Single nucleotide variant
(missense variant)
Von Willebrand disease type 2B
+6 more
GPathogenic
VWF
(P1266Q)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
+4 more
GConflicting classifications of pathogenicity
VWF
Single nucleotide variant
(synonymous variant)
von Willebrand disease type 3
+5 more
GBenign/Likely benign
VWF
Single nucleotide variant
(synonymous variant)
von Willebrand disease type 1
+3 more
GLikely benign
VWF
Single nucleotide variant
(intron variant)
not provided
+5 more
GBenign/Likely benign
VWF
(T1122M)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
+3 more
GUncertain significance
VWF
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GLikely benign
VWF
(R854Q)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2N
+7 more
GPathogenic/Likely pathogenic
VWF
(H817Q)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
+5 more
GBenign/Likely benign
VWF
(P812fs)
Deletion
(frameshift variant)
Abnormal bleeding
+5 more
GPathogenic
VWF
(R606Q)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
VWF
(A542G)
Single nucleotide variant
(missense variant)
VWF-related disorder
+6 more
GConflicting classifications of pathogenicity
VWF
(R402K)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
+3 more
GUncertain significance
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