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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
F8
(P2319L +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
+1 more
GPathogenic
F8
(Q2265R +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
+1 more
GPathogenic
F8
(D117H +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
F8
(R1985Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
F8
(R1800H)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(R1708C)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
+1 more
GPathogenic
F8
Single nucleotide variant
(synonymous variant)
Hereditary factor VIII deficiency disease
GBenign
F8
(D1260E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
F8
(H1234L)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 8 defect
GUncertain significance
F8
(R814*)
Single nucleotide variant
(nonsense)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(N637S)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
+1 more
GPathogenic/Likely pathogenic
F8
(R245W)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 8 defect
+1 more
GPathogenic/Likely pathogenic
F8
(V181M)
Single nucleotide variant
(missense variant)
F8-related disorder
+1 more
GPathogenic
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