C4748767[trait identifier] AND "OMIM"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6016	NM_004553.6(NDUFS6):c.186+2T>A	NDUFS6	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 6017	nsv1197507	NDUFS6	Deletion	Mitochondrial complex 1 deficiency, nuclear type 9	GPathogenic
Select item 6018	NM_004553.6(NDUFS6):c.344G>A (p.Cys115Tyr)	NDUFS6 (C115Y)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 9 +1 more	GLikely pathogenic

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