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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VWF
(N2679S)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
+3 more
GUncertain significance
VWF
(L2380F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VWF
(R2287W)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
+4 more
GUncertain significance
VWF
(P2063S)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
VWF
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
VWF
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
VWF
(P1790L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VWF
(Y1780H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VWF
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
VWF
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
VWF
(P1682S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VWF
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
VWF
(G1643S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VWF
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
VWF
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
VWF
(R924W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VWF
(R854Q)
Single nucleotide variant
(missense variant)
VWF-related condition
+8 more
GPathogenic/Likely pathogenic
VWF
(P812fs)
Deletion
(frameshift variant)
not provided
+5 more
GPathogenic
VWF
(M740I)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
VWF
(N530D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VWF
(V444I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VWF
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
VWF
(N318K)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
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