ClinVar for MedGen (Select 767521) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033694	NM_014402.5(UQCRQ):c.22C>A (p.Leu8Met)	LOC126807509, UQCRQ (L8M)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 907687	NM_014402.5(UQCRQ):c.*970A>G	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 907686	NM_014402.5(UQCRQ):c.*953A>T	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 907685	NM_014402.5(UQCRQ):c.*882G>T	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 907684	NM_014402.5(UQCRQ):c.*803A>G	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 906654	NM_014402.5(UQCRQ):c.*697G>C	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 906653	NM_014402.5(UQCRQ):c.*622T>G	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 906652	NM_014402.5(UQCRQ):c.*552C>T	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 906651	NM_014402.5(UQCRQ):c.*485G>A	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 905153	NM_014402.5(UQCRQ):c.*1239A>G	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 905152	NM_014402.5(UQCRQ):c.*1193A>G	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 905151	NM_014402.5(UQCRQ):c.*1177G>A	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 905150	NM_014402.5(UQCRQ):c.*1120A>C	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 905070	NM_014402.5(UQCRQ):c.*468G>A	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 905069	NM_014402.5(UQCRQ):c.*359G>T	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 905068	NM_014402.5(UQCRQ):c.*342C>T	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 904349	NM_014402.5(UQCRQ):c.*1115G>C	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 904348	NM_014402.5(UQCRQ):c.*1010C>G	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 904278	NM_014402.5(UQCRQ):c.*102T>C	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 904277	NM_014402.5(UQCRQ):c.-16C>T	LOC126807509, UQCRQ	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 669826	NM_014402.5(UQCRQ):c.90C>T (p.Val30=)	LOC126807509, UQCRQ	Single nucleotide variant (synonymous variant)	Mitochondrial complex III deficiency nuclear type 4 +1 more	GConflicting classifications of pathogenicity
Select item 350863	NM_014402.5(UQCRQ):c.*1204G>A	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 350861	NM_014402.5(UQCRQ):c.*1086A>C	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 350860	NM_014402.5(UQCRQ):c.*1078T>A	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 350859	NM_014402.5(UQCRQ):c.*1058A>G	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 350858	NM_014402.5(UQCRQ):c.*1026C>G	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 350857	NM_014402.5(UQCRQ):c.*979G>A	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 350856	NM_014402.5(UQCRQ):c.*971C>A	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 350855	NM_014402.5(UQCRQ):c.*970A>C	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4 +1 more	GConflicting classifications of pathogenicity
Select item 350854	NM_014402.5(UQCRQ):c.*757G>A	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GBenign
Select item 350853	NM_014402.5(UQCRQ):c.*756C>T	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 350852	NM_014402.5(UQCRQ):c.*723A>G	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GBenign
Select item 350851	NM_014402.5(UQCRQ):c.*678G>A	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GBenign
Select item 350850	NM_014402.5(UQCRQ):c.*658A>C	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 350849	NM_014402.5(UQCRQ):c.*644C>T	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GLikely benign
Select item 350848	NM_014402.5(UQCRQ):c.*545A>C	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 350847	NM_014402.5(UQCRQ):c.*364C>T	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 350846	NM_014402.5(UQCRQ):c.*334C>T	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GLikely benign
Select item 350845	NM_014402.5(UQCRQ):c.*332G>A	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 350844	NM_014402.5(UQCRQ):c.*249A>G	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 350843	NM_014402.5(UQCRQ):c.*236C>T	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 350842	NM_014402.5(UQCRQ):c.*236C>G	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4 +1 more	GConflicting classifications of pathogenicity
Select item 350841	NM_014402.5(UQCRQ):c.*19G>T	UQCRQ	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 350840	NM_014402.5(UQCRQ):c.*18C>T	UQCRQ	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 350839	NM_014402.5(UQCRQ):c.45C>T (p.Ile15=)	LOC126807509, UQCRQ	Single nucleotide variant (synonymous variant)	Mitochondrial complex III deficiency nuclear type 4 +1 more	GConflicting classifications of pathogenicity
Select item 350838	NM_014402.5(UQCRQ):c.-18G>C	LOC126807509, UQCRQ	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 215349	NM_014402.5(UQCRQ):c.10G>A (p.Glu4Lys)	LOC126807509, UQCRQ (E4K)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 4 +2 more	GConflicting classifications of pathogenicity
Select item 137891	NM_014402.5(UQCRQ):c.108C>G (p.Pro36=)	LOC126807509, UQCRQ	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 729	NM_014402.5(UQCRQ):c.134C>T (p.Ser45Phe)	LOC126807509, UQCRQ (S45F)	Single nucleotide variant (missense variant)	not provided	GPathogenic

ClinVar

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Links from MedGen

Items: 49