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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EFHC1
(I315F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
EFHC1
(R366C +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
Single nucleotide variant
(intron variant)
Absence seizure
+1 more
GConflicting classifications of pathogenicity
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