ClinVar for MedGen (Select 767521) - ClinVar

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Items: 49

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 10336941.	NM_014402.5(UQCRQ):c.22C>A (p.Leu8Met) GRCh37: Chr5:132202595 GRCh38: Chr5:132866903	LOC126807509, UQCRQ	L8M	Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 27, 2018)	criteria provided, single submitter
Select item 9076872.	NM_014402.5(UQCRQ):c.*970A>G GRCh37: Chr5:132204244 GRCh38: Chr5:132868552	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 9076863.	NM_014402.5(UQCRQ):c.*953A>T GRCh37: Chr5:132204227 GRCh38: Chr5:132868535	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 9076854.	NM_014402.5(UQCRQ):c.*882G>T GRCh37: Chr5:132204156 GRCh38: Chr5:132868464	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9076845.	NM_014402.5(UQCRQ):c.*803A>G GRCh37: Chr5:132204077 GRCh38: Chr5:132868385	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 9066546.	NM_014402.5(UQCRQ):c.*697G>C GRCh37: Chr5:132203971 GRCh38: Chr5:132868279	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9066537.	NM_014402.5(UQCRQ):c.*622T>G GRCh37: Chr5:132203896 GRCh38: Chr5:132868204	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9066528.	NM_014402.5(UQCRQ):c.*552C>T GRCh37: Chr5:132203826 GRCh38: Chr5:132868134	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9066519.	NM_014402.5(UQCRQ):c.*485G>A GRCh37: Chr5:132203759 GRCh38: Chr5:132868067	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90515310.	NM_014402.5(UQCRQ):c.*1239A>G GRCh37: Chr5:132204513 GRCh38: Chr5:132868821	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90515211.	NM_014402.5(UQCRQ):c.*1193A>G GRCh37: Chr5:132204467 GRCh38: Chr5:132868775	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90515112.	NM_014402.5(UQCRQ):c.*1177G>A GRCh37: Chr5:132204451 GRCh38: Chr5:132868759	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90515013.	NM_014402.5(UQCRQ):c.*1120A>C GRCh37: Chr5:132204394 GRCh38: Chr5:132868702	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90507014.	NM_014402.5(UQCRQ):c.*468G>A GRCh37: Chr5:132203742 GRCh38: Chr5:132868050	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90506915.	NM_014402.5(UQCRQ):c.*359G>T GRCh37: Chr5:132203633 GRCh38: Chr5:132867941	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90506816.	NM_014402.5(UQCRQ):c.*342C>T GRCh37: Chr5:132203616 GRCh38: Chr5:132867924	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90434917.	NM_014402.5(UQCRQ):c.*1115G>C GRCh37: Chr5:132204389 GRCh38: Chr5:132868697	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90434818.	NM_014402.5(UQCRQ):c.*1010C>G GRCh37: Chr5:132204284 GRCh38: Chr5:132868592	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90427819.	NM_014402.5(UQCRQ):c.*102T>C GRCh37: Chr5:132203376 GRCh38: Chr5:132867684	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90427720.	NM_014402.5(UQCRQ):c.-16C>T GRCh37: Chr5:132202377 GRCh38: Chr5:132866685	LOC126807509, UQCRQ		Mitochondrial complex III deficiency nuclear type 4, not provided	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 66982621.	NM_014402.5(UQCRQ):c.90C>T (p.Val30=) GRCh37: Chr5:132202663 GRCh38: Chr5:132866971	LOC126807509, UQCRQ		Mitochondrial complex III deficiency nuclear type 4, not provided	Conflicting interpretations of pathogenicity (Aug 19, 2022)	criteria provided, conflicting interpretations
Select item 35086322.	NM_014402.5(UQCRQ):c.*1204G>A GRCh37: Chr5:132204478 GRCh38: Chr5:132868786	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35086123.	NM_014402.5(UQCRQ):c.*1086A>C GRCh37: Chr5:132204360 GRCh38: Chr5:132868668	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35086024.	NM_014402.5(UQCRQ):c.*1078T>A GRCh37: Chr5:132204352 GRCh38: Chr5:132868660	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35085925.	NM_014402.5(UQCRQ):c.*1058A>G GRCh37: Chr5:132204332 GRCh38: Chr5:132868640	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35085826.	NM_014402.5(UQCRQ):c.*1026C>G GRCh37: Chr5:132204300 GRCh38: Chr5:132868608	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35085727.	NM_014402.5(UQCRQ):c.*979G>A GRCh37: Chr5:132204253 GRCh38: Chr5:132868561	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35085628.	NM_014402.5(UQCRQ):c.*971C>A GRCh37: Chr5:132204245 GRCh38: Chr5:132868553	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35085529.	NM_014402.5(UQCRQ):c.*970A>C GRCh37: Chr5:132204244 GRCh38: Chr5:132868552	UQCRQ		Mitochondrial complex III deficiency nuclear type 4, not provided	Conflicting interpretations of pathogenicity (May 1, 2023)	criteria provided, conflicting interpretations
Select item 35085430.	NM_014402.5(UQCRQ):c.*757G>A GRCh37: Chr5:132204031 GRCh38: Chr5:132868339	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35085331.	NM_014402.5(UQCRQ):c.*756C>T GRCh37: Chr5:132204030 GRCh38: Chr5:132868338	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35085232.	NM_014402.5(UQCRQ):c.*723A>G GRCh37: Chr5:132203997 GRCh38: Chr5:132868305	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35085133.	NM_014402.5(UQCRQ):c.*678G>A GRCh37: Chr5:132203952 GRCh38: Chr5:132868260	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35085034.	NM_014402.5(UQCRQ):c.*658A>C GRCh37: Chr5:132203932 GRCh38: Chr5:132868240	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35084935.	NM_014402.5(UQCRQ):c.*644C>T GRCh37: Chr5:132203918 GRCh38: Chr5:132868226	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35084836.	NM_014402.5(UQCRQ):c.*545A>C GRCh37: Chr5:132203819 GRCh38: Chr5:132868127	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35084737.	NM_014402.5(UQCRQ):c.*364C>T GRCh37: Chr5:132203638 GRCh38: Chr5:132867946	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35084638.	NM_014402.5(UQCRQ):c.*334C>T GRCh37: Chr5:132203608 GRCh38: Chr5:132867916	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35084539.	NM_014402.5(UQCRQ):c.*332G>A GRCh37: Chr5:132203606 GRCh38: Chr5:132867914	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35084440.	NM_014402.5(UQCRQ):c.*249A>G GRCh37: Chr5:132203523 GRCh38: Chr5:132867831	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35084341.	NM_014402.5(UQCRQ):c.*236C>T GRCh37: Chr5:132203510 GRCh38: Chr5:132867818	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35084242.	NM_014402.5(UQCRQ):c.*236C>G GRCh37: Chr5:132203510 GRCh38: Chr5:132867818	UQCRQ		not provided, Mitochondrial complex III deficiency nuclear type 4	Conflicting interpretations of pathogenicity (Aug 14, 2018)	criteria provided, conflicting interpretations
Select item 35084143.	NM_014402.5(UQCRQ):c.*19G>T GRCh37: Chr5:132203293 GRCh38: Chr5:132867601	UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35084044.	NM_014402.5(UQCRQ):c.*18C>T GRCh37: Chr5:132203292 GRCh38: Chr5:132867600	UQCRQ		not specified, Mitochondrial complex III deficiency nuclear type 4	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 35083945.	NM_014402.5(UQCRQ):c.45C>T (p.Ile15=) GRCh37: Chr5:132202618 GRCh38: Chr5:132866926	LOC126807509, UQCRQ		Mitochondrial complex III deficiency nuclear type 4, not provided	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations
Select item 35083846.	NM_014402.5(UQCRQ):c.-18G>C GRCh37: Chr5:132202375 GRCh38: Chr5:132866683	LOC126807509, UQCRQ		Mitochondrial complex III deficiency nuclear type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 21534947.	NM_014402.5(UQCRQ):c.10G>A (p.Glu4Lys) GRCh37: Chr5:132202583 GRCh38: Chr5:132866891	LOC126807509, UQCRQ	E4K	Mitochondrial complex III deficiency nuclear type 4, not provided	Conflicting interpretations of pathogenicity (Jun 29, 2022)	criteria provided, conflicting interpretations
Select item 13789148.	NM_014402.5(UQCRQ):c.108C>G (p.Pro36=) GRCh37: Chr5:132202681 GRCh38: Chr5:132866989	LOC126807509, UQCRQ		not specified, not provided, Mitochondrial complex III deficiency nuclear type 4	Conflicting interpretations of pathogenicity (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 72949.	NM_014402.5(UQCRQ):c.134C>T (p.Ser45Phe) GRCh37: Chr5:132202707 GRCh38: Chr5:132867015	LOC126807509, UQCRQ	S45F	not provided	Pathogenic (Jun 16, 2015)	criteria provided, single submitter

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Items: 49