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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGB
(R44C)
Single nucleotide variant
(missense variant)
Hypofibrinogenemia
+2 more
GLikely pathogenic
FGB
(G45fs)
Deletion
(frameshift variant)
not provided
GPathogenic
FGB
(R47*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
FGB
(Q160R +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
FGB
(P265L +1 more)
Single nucleotide variant
(missense variant)
Congenital afibrinogenemia
+6 more
GConflicting classifications of pathogenicity
FGB
(D252E +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
FGB
(Q323fs +5 more)
Deletion
(frameshift variant +2 more)
not provided
GLikely pathogenic
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