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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
F5
(K2185R)
Single nucleotide variant
(missense variant)
not provided
+7 more
GBenign/Likely benign
F5
(I1755M)
Single nucleotide variant
(missense variant)
Hemorrhage
+9 more
GConflicting classifications of pathogenicity
F5
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+8 more
GBenign/Likely benign
F5
(Q1318K)
Single nucleotide variant
(missense variant)
Factor V deficiency
+6 more
GLikely benign
F5
(E1054D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GConflicting classifications of pathogenicity
F5
(H710R)
Single nucleotide variant
(missense variant)
Congenital factor V deficiency
+6 more
GBenign
INSL6, JAK2
(G127D)
Single nucleotide variant
(missense variant +2 more)
not provided
+6 more
GBenign/Likely benign
INSL6, JAK2
Single nucleotide variant
(intron variant)
Acquired polycythemia vera
+7 more
GConflicting classifications of pathogenicity
INSL6, JAK2
(V617F +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
INSL6, JAK2
(R1063H +2 more)
Single nucleotide variant
(missense variant +1 more)
JAK2-related condition
+8 more
GBenign/Likely benign
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