ClinVar for MedGen (Select 1675208) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619099	NM_205767.3(MICOS13):c.30-1G>A	MICOS13	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation deficiency 37	GPathogenic
Select item 617631	NM_205767.3(MICOS13):c.44del (p.Gly15fs)	MICOS13 (G15fs +1 more)	Deletion (frameshift variant)	Combined oxidative phosphorylation deficiency 37 +1 more	GConflicting classifications of pathogenicity
Select item 425157	NM_205767.3(MICOS13):c.260-2A>G	MICOS13	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic

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