ClinVar for Gene (Select 27089) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3031656	NM_014402.5(UQCRQ):c.84G>T (p.Pro28=)	LOC126807509, UQCRQ	Single nucleotide variant (synonymous variant)	UQCRQ-related condition	GLikely benign
Select item 2971717	NM_014402.5(UQCRQ):c.144del (p.Val49fs)	LOC126807509, UQCRQ (V49fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2620620	NM_014402.5(UQCRQ):c.152C>G (p.Pro51Arg)	LOC126807509, UQCRQ (P51R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598652	NM_014402.5(UQCRQ):c.193G>A (p.Glu65Lys)	UQCRQ (E65K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550150	NM_014402.5(UQCRQ):c.176T>C (p.Ile59Thr)	UQCRQ (I59T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506534	GRCh37/hg19 5q23.3-31.1(chr5:127800418-134002686)	ACSL6, ADAMTS19 +44 more	Copy number loss	Houge-Janssens syndrome 3	GPathogenic
Select item 2420693	NM_014402.5(UQCRQ):c.116T>G (p.Leu39Arg)	LOC126807509, UQCRQ (L39R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416445	NM_014402.5(UQCRQ):c.60A>G (p.Ser20=)	LOC126807509, UQCRQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2402585	NM_014402.5(UQCRQ):c.110A>G (p.Asn37Ser)	LOC126807509, UQCRQ (N37S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392753	NM_014402.5(UQCRQ):c.101G>T (p.Gly34Val)	LOC126807509, UQCRQ (G34V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312410	NM_014402.5(UQCRQ):c.218A>G (p.Lys73Arg)	UQCRQ (K73R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296737	NM_014402.5(UQCRQ):c.113T>A (p.Val38Asp)	LOC126807509, UQCRQ (V38D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1958085	NM_014402.5(UQCRQ):c.110A>C (p.Asn37Thr)	LOC126807509, UQCRQ (N37T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 1340293	GRCh37/hg19 5q31.1(chr5:132181132-132605222)x3	AFF4, FSTL4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1318354	NM_014402.5(UQCRQ):c.-13-22C>T	LOC126807509, UQCRQ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290985	NM_014402.5(UQCRQ):c.155-28T>G	UQCRQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245683	NM_014402.5(UQCRQ):c.*11C>T	UQCRQ	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1240834	NM_001288824.4(GDF9):c.-32+30T>C	GDF9, LOC126807509 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1225029	NM_014402.5(UQCRQ):c.-14+32C>G	LOC126807509, UQCRQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183892	NM_014402.5(UQCRQ):c.-14+20T>C	UQCRQ, LOC126807509	Single nucleotide variant (intron variant)	not provided	GBenign
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 871552	NM_014402.5(UQCRQ):c.226G>A (p.Ala76Thr)	UQCRQ (A76T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 737693	NM_014402.5(UQCRQ):c.81T>C (p.Tyr27=)	LOC126807509, UQCRQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722119	NM_014402.5(UQCRQ):c.237A>G (p.Glu79=)	UQCRQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 676789	NM_001288824.4(GDF9):c.-32+37A>G	GDF9, LOC126807509 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 676452	NM_014402.5(UQCRQ):c.155-123G>T	UQCRQ	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 559504	GRCh37/hg19 5q31.1(chr5:131484039-132998360)x3	SLC22A4, LEAP2 +19 more	Copy number gain	Blepharophimosis +5 more	GUncertain significance
Select item 513958	NM_014402.5(UQCRQ):c.90C>G (p.Val30=)	LOC126807509, UQCRQ	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 513951	NM_014402.5(UQCRQ):c.156G>A (p.Gln52=)	UQCRQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 510745	NM_014402.5(UQCRQ):c.-13-18C>T	LOC126807509, UQCRQ	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 508414	NM_014402.5(UQCRQ):c.-23G>C	LOC126807509, UQCRQ	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, CCDC69 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic
Select item 387639	NM_014402.5(UQCRQ):c.165G>C (p.Val55=)	UQCRQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 350862	NM_014402.5(UQCRQ):c.*1175del	UQCRQ	Deletion (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 1	GLikely benign
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)	not provided +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=)	UQCRQ, LOC126807509	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 350837	NM_014402.5(UQCRQ):c.-31del	LOC126807509, UQCRQ	Deletion (5 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 1	GUncertain significance
Select item 215352	NM_014402.5(UQCRQ):c.241G>C (p.Asp81His)	UQCRQ (D81H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 215351	NM_014402.5(UQCRQ):c.181A>C (p.Thr61Pro)	UQCRQ (T61P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 215350	NM_014402.5(UQCRQ):c.95C>T (p.Thr32Ile)	LOC126807509, UQCRQ (T32I)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129995052, LOC129995053 +1157 more	Copy number gain	See cases	GPathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	LOC129994691, LOC129994692 +263 more	Copy number loss	See cases	GPathogenic
Select item 137892	NM_014402.5(UQCRQ):c.154+17C>T	LOC126807509, UQCRQ	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58360	GRCh38/hg38 5q31.1(chr5:132816203-135383158)x1	AFF4, AFF4-DT +147 more	Copy number loss	See cases	GPathogenic
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	ACSL6, ACSL6-AS1 +200 more	Copy number loss	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

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