"laboratory of biochemistry, Caen University Hospital"[submitter] AND - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 587699	NM_032861.4(SERAC1):c.92-165C>T	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GPathogenic
Select item 587693	NM_032861.4(SERAC1):c.92-239G>C	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GPathogenic