ClinVar for MedGen (Select 1840958) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061780	NM_004375.5(COX11):c.739C>A (p.Pro247Thr)	COX11	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex IV deficiency, nuclear type 23	GPathogenic
Select item 3061779	NM_004375.5(COX11):c.766dup (p.Thr256fs)	COX11 (T256fs)	Duplication (frameshift variant +2 more)	Mitochondrial complex IV deficiency, nuclear type 23	GPathogenic
Select item 2504641	NM_004375.5(COX11):c.668A>G (p.Gln223Arg)	COX11 (Q223R)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex IV deficiency, nuclear type 23	GUncertain significance
Select item 2504640	NM_004375.5(COX11):c.786T>G (p.Phe262Leu)	COX11 (F262L)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex IV deficiency, nuclear type 23	GUncertain significance
Select item 2443971	NM_004375.5(COX11):c.35_36delinsG (p.Val12fs)	COX11 (V12fs)	Indel (frameshift variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 23	GPathogenic
Select item 2443970	NM_004375.5(COX11):c.730G>C (p.Ala244Pro)	COX11 (A244P)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex IV deficiency, nuclear type 23	GPathogenic

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