C4225379[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1802992	NM_145199.3(LIPT1):c.316G>A (p.Val106Ile)	LIPT1, MITD1 (V106I)	Single nucleotide variant (missense variant +1 more)	Lipoyl transferase 1 deficiency +1 more	GUncertain significance
Select item 242526	NM_145199.3(LIPT1):c.806G>A (p.Trp269Ter)	LIPT1, MITD1 (W269*)	Single nucleotide variant (nonsense +1 more)	Lipoyl transferase 1 deficiency	GLikely pathogenic