ClinVar for MedGen (Select 1783451) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024091	NM_003365.3(UQCRC1):c.964G>A (p.Val322Met)	UQCRC1 (V322M)	Single nucleotide variant (missense variant)	Parkinsonism with polyneuropathy	GUncertain significance
Select item 2506569	NM_003365.3(UQCRC1):c.359T>C (p.Leu120Pro)	UQCRC1 (L120P)	Single nucleotide variant (missense variant)	Parkinsonism with polyneuropathy	GLikely pathogenic
Select item 2441752	NM_003365.3(UQCRC1):c.279G>C (p.Leu93Phe)	UQCRC1 (L93F)	Single nucleotide variant (missense variant)	Parkinsonism with polyneuropathy	GUncertain significance
Select item 2438491	NM_003365.3(UQCRC1):c.376C>T (p.Arg126Trp)	UQCRC1 (R126W)	Single nucleotide variant (missense variant)	Parkinsonism with polyneuropathy +1 more	GUncertain significance
Select item 1064665	NM_003365.3(UQCRC1):c.[70-1G>A;73dup]	LOC129936713, UQCRC1 (A25fs)	Duplication (frameshift variant +1 more)	Parkinsonism with polyneuropathy	GPathogenic
Select item 1064664	NM_003365.3(UQCRC1):c.931A>C (p.Ile311Leu)	UQCRC1 (I311L)	Single nucleotide variant (missense variant)	Parkinsonism with polyneuropathy	GPathogenic
Select item 1064663	NM_003365.3(UQCRC1):c.941A>C (p.Tyr314Ser)	UQCRC1 (Y314S)	Single nucleotide variant (missense variant)	Parkinsonism with polyneuropathy	GPathogenic

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