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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
F8
(G2102S)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
+2 more
GConflicting classifications of pathogenicity
F8
(S2030N)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 8 defect
+4 more
GPathogenic/Likely pathogenic
F8
(R1768C)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic/Likely pathogenic
F8
(A1610S)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 8 defect
+1 more
GConflicting classifications of pathogenicity
F8
(E1057K)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 8 defect
+2 more
GConflicting classifications of pathogenicity
F8
(P947R)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 8 defect
+1 more
GConflicting classifications of pathogenicity
F8
(M721I)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(R612H)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GUncertain significance
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