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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EPM2A, EPM2A-DT
+1 more
(Q55K)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+3 more
GBenign
EPM2A, EPM2A-DT
+1 more
(A46P)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+4 more
GBenign/Likely benign