"Baylor Genetics"[submitter] AND "LIPT1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 433559	NM_145199.3(LIPT1):c.131A>G (p.Asn44Ser)	LIPT1, MITD1 (N44S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 285871	NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter)	LIPT1, MITD1 (S292*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic