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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIF4GD-DT, SLC25A19
(F281C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Amish lethal microcephaly
+1 more
GConflicting classifications of pathogenicity
MIF4GD-DT, SLC25A19
(R260Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Amish lethal microcephaly
+1 more
GUncertain significance