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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
FGA
(E545V)
Single nucleotide variant
(missense variant)
Familial visceral amyloidosis, Ostertag type
+3 more
GPathogenic
FGA
(T331A)
Single nucleotide variant
(missense variant)
Familial visceral amyloidosis, Ostertag type
+3 more
GConflicting classifications of pathogenicity
FGA
(R35H)
Single nucleotide variant
(missense variant)
Familial dysfibrinogenemia
+5 more
GPathogenic
FGG
(A108G)
Single nucleotide variant
(missense variant)
Congenital afibrinogenemia
+6 more
GConflicting classifications of pathogenicity
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