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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTHFR
(I153M +1 more)
Single nucleotide variant
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
+3 more
GPathogenic/Likely pathogenic
F2
(R117Q)
Single nucleotide variant
(missense variant)
Thrombophilia due to thrombin defect
GUncertain significance