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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIF4GD-DT, SLC25A19
Single nucleotide variant
(non-coding transcript variant +1 more)
Amish lethal microcephaly
GPathogenic
SLC25A19
(T157M)
Single nucleotide variant
(missense variant)
Amish lethal microcephaly
GLikely pathogenic