C0342791[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1001568	NM_000387.6(SLC25A20):c.721C>A (p.Pro241Thr)	SLC25A20 (P241T)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 1067105	NM_000387.6(SLC25A20):c.105+1G>T	SLC25A20	Single nucleotide variant (splice donor variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic