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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
F2
(R541W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
F2
Single nucleotide variant
(intron variant)
Ischemic stroke
+4 more
GBenign
F2
(R596L)
Single nucleotide variant
(missense variant)
Thrombophilia due to thrombin defect
GPathogenic
F2
Single nucleotide variant
(3 prime UTR variant)
Thrombophilia due to thrombin defect
Gnot provided
F2
Single nucleotide variant
not provided
+5 more
GConflicting classifications of pathogenicity; risk factor
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