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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
F7
(R148C +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital factor VII deficiency
GUncertain significance
F7
(R128* +2 more)
Single nucleotide variant
(nonsense +1 more)
Congenital factor VII deficiency
GPathogenic
F7
(A354V +2 more)
Single nucleotide variant
(missense variant +1 more)
Factor VII deficiency
+4 more
GPathogenic/Likely pathogenic
F7
(R342Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Myocardial infarction, susceptibility to
+3 more
GPathogenic/Likely pathogenic; other
F7
(Y359* +2 more)
Single nucleotide variant
(nonsense +1 more)
Congenital factor VII deficiency
GPathogenic
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