"Elsea Laboratory, Baylor College of Medicine"[submitter] AND "MITD1"[ - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 189835	NM_145199.3(LIPT1):c.212C>T (p.Ser71Phe)	LIPT1, MITD1 (S71F)	Single nucleotide variant (missense variant +1 more)	Lipoyl transferase 1 deficiency +1 more	GLikely pathogenic
Select item 973443	NM_145199.3(LIPT1):c.539T>C (p.Leu180Ser)	LIPT1, MITD1 (L180S)	Single nucleotide variant (missense variant +1 more)	Lipoyl transferase 1 deficiency	GUncertain significance