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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC25A20
(P241T)
Single nucleotide variant
(missense variant)
Carnitine acylcarnitine translocase deficiency
GUncertain significance
SLC25A20
Single nucleotide variant
(splice donor variant)
Carnitine acylcarnitine translocase deficiency
GLikely pathogenic