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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
F9
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GLikely pathogenic
F9
(R75Q)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
+4 more
GPathogenic/Likely pathogenic
F9
(K89*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
F9
(G106S)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor IX deficiency disease
GPathogenic
F9
(N100S +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 9 defect
+2 more
GUncertain significance
F9
(V115A +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
F9
(G122R +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
F9
(R191C +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 9 defect
+2 more
GPathogenic/Likely pathogenic
F9
(R191H +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
GPathogenic
F9
(G192R +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
F9
(H282R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
F9
(R294* +1 more)
Single nucleotide variant
(nonsense)
Hereditary factor IX deficiency disease
GPathogenic
F9
(I278T +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GPathogenic/Likely pathogenic
F9
(T342M +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
GPathogenic
F9
(R379* +1 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
F9
(I390F +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
F9
(I443T +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
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