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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTHFR
(A222V +1 more)
Single nucleotide variant
(missense variant)
methotrexate response - Toxicity
Gdrug response
MTHFR
(R157Q +1 more)
Single nucleotide variant
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
+3 more
GPathogenic/Likely pathogenic
F2
(E200K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity; risk factor
F2
(R596L)
Single nucleotide variant
(missense variant)
Thrombophilia due to thrombin defect
GPathogenic
F2
Single nucleotide variant
Pregnancy loss, recurrent, susceptibility to, 2
+5 more
GConflicting classifications of pathogenicity; risk factor
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