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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
F8
(L1766*)
Single nucleotide variant
(nonsense)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(N1460fs)
Duplication
(frameshift variant)
Thrombophilia, X-linked, due to factor 8 defect
+2 more
GPathogenic/Likely pathogenic
F8
(I1213fs)
Deletion
(frameshift variant)
Hereditary factor IX deficiency disease
+1 more
GPathogenic/Likely pathogenic
F8
(F672del)
Microsatellite
(inframe_deletion)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
Single nucleotide variant
(splice acceptor variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(N583S)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GConflicting classifications of pathogenicity
F8
(E576V)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
(G469*)
Single nucleotide variant
(nonsense)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
Deletion
(nonsense)
Hereditary factor VIII deficiency disease
GPathogenic
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