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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VWF
(V2465M)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GLikely pathogenic
VWF
(R2313H)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
+1 more
GUncertain significance
VWF
(T1951A)
Single nucleotide variant
(missense variant)
Hereditary von Willebrand disease
+6 more
GConflicting classifications of pathogenicity
VWF
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
VWF
(W1745*)
Single nucleotide variant
(nonsense)
von Willebrand disease type 3
GPathogenic
VWF
(D1498N)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(R1399C)
Single nucleotide variant
(missense variant)
von Willebrand disorder
+3 more
GConflicting classifications of pathogenicity
VWF
(R960W)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(R760C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
VWF
(A542G)
Single nucleotide variant
(missense variant)
VWF-related disorder
+6 more
GConflicting classifications of pathogenicity
VWF
(R202W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACRBP, ACSM4
+102 more
Copy number gain
not provided
GPathogenic
ACRBP, ACSM4
+105 more
Copy number gain
not provided
GPathogenic
A2M, A2ML1
+193 more
Copy number gain
not provided
GPathogenic
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