ClinVar for MedGen (Select 815883) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1900186	NM_001916.5(CYC1):c.11C>T (p.Ala4Val)	CYC1 (A4V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1255440	NM_001916.5(CYC1):c.772+19_772+20del	CYC1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1255439	NM_001916.5(CYC1):c.226A>G (p.Met76Val)	CYC1 (M76V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 870566	NM_001916.5(CYC1):c.949C>T (p.Arg317Trp)	CYC1 (R317W)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 6	GUncertain significance
Select item 389380	NM_001916.5(CYC1):c.873+7G>A	CYC1	Single nucleotide variant (intron variant)	CYC1-related condition +3 more	GBenign/Likely benign
Select item 379959	NM_001916.5(CYC1):c.99T>G (p.Arg33=)	CYC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 66020	NM_001916.5(CYC1):c.643C>T (p.Leu215Phe)	CYC1 (L215F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66019	NM_001916.5(CYC1):c.288G>T (p.Trp96Cys)	CYC1 (W96C)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 6	GPathogenic

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