ClinVar for MedGen (Select 1754683) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1392701	NM_001863.5(COX6B1):c.200C>T (p.Thr67Ile)	COX6B1 (T67I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1356406	NM_001863.5(COX6B1):c.157G>A (p.Val53Met)	COX6B1 (V53M)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 7 +1 more	GUncertain significance
Select item 889433	NM_001863.5(COX6B1):c.212C>T (p.Thr71Ile)	COX6B1 (T71I)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 509612	NM_001863.5(COX6B1):c.243G>A (p.Thr81=)	COX6B1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 508010	NM_001863.5(COX6B1):c.-11-8G>A	COX6B1	Single nucleotide variant (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 7 +1 more	GLikely benign
Select item 377750	NM_001863.5(COX6B1):c.107-16A>G	COX6B1	Single nucleotide variant (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 7 +2 more	GBenign/Likely benign

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