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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
F9
(R43Q)
Single nucleotide variant
(missense variant)
not specified
+3 more
GPathogenic
F9
(R294Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
+2 more
GPathogenic
F9
(C297Y +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
GLikely pathogenic
F9
(G357R +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
+1 more
GPathogenic/Likely pathogenic
F9
(G360V +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
GLikely pathogenic
F8
(A723T)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 8 defect
+3 more
GPathogenic
F8
(R602*)
Single nucleotide variant
(nonsense)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(R546W)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
+2 more
GPathogenic/Likely pathogenic
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