"Illumina Laboratory Services, Illumina"[submitter] AND "COX10"[gene] - ClinVar

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 321802	NM_001303.3(COX10):c.-170C>G	COX10, COX10-DT	Single nucleotide variant (non-coding transcript variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 321803	NM_001303.3(COX10):c.-112G>A	COX10	Single nucleotide variant	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GBenign
Select item 321804	NM_001303.3(COX10):c.-109G>A	COX10	Single nucleotide variant	Leigh syndrome +2 more	GBenign/Likely benign
Select item 321805	NM_001303.4(COX10):c.-90G>T	COX10	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 891985	NM_001303.4(COX10):c.-89G>C	COX10	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex 4 deficiency, nuclear type 3 +2 more	GUncertain significance
Select item 889563	NM_001303.4(COX10):c.-89G>T	COX10	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +2 more	GUncertain significance
Select item 321806	NM_001303.4(COX10):c.-63C>T	COX10	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +1 more	GBenign/Likely benign
Select item 321807	NM_001303.4(COX10):c.-40G>A	COX10	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 321808	NM_001303.4(COX10):c.-29C>A	COX10	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 321809	NM_001303.4(COX10):c.-24G>A	COX10	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 137005	NM_001303.4(COX10):c.33C>T (p.Arg11=)	COX10, LOC130060303	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 890219	NM_001303.4(COX10):c.44-3T>C	COX10	Single nucleotide variant (intron variant)	Leigh syndrome +1 more	GUncertain significance
Select item 321810	NM_001303.4(COX10):c.64T>A (p.Trp22Arg)	COX10 (W22R)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 137004	NM_001303.4(COX10):c.83C>T (p.Thr28Ile)	COX10 (T28I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 377746	NM_001303.4(COX10):c.93C>A (p.Asp31Glu)	COX10 (D31E)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 321811	NM_001303.4(COX10):c.123G>A (p.Arg41=)	COX10	Single nucleotide variant (synonymous variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 321812	NM_001303.4(COX10):c.173G>A (p.Arg58His)	COX10 (R58H)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +4 more	GUncertain significance
Select item 137006	NM_001303.4(COX10):c.184A>T (p.Thr62Ser)	COX10 (T62S)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 321813	NM_001303.4(COX10):c.192G>A (p.Leu64=)	COX10	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 725217	NM_001303.4(COX10):c.260C>T (p.Thr87Ile)	COX10 (T87I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 137007	NM_001303.4(COX10):c.290A>G (p.Tyr97Cys)	COX10 (Y97C)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 137008	NM_001303.4(COX10):c.302C>T (p.Pro101Leu)	COX10 (P101L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 449007	NM_001303.4(COX10):c.311C>T (p.Pro104Leu)	COX10 (P104L)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 137009	NM_001303.4(COX10):c.476G>A (p.Arg159Gln)	COX10 (R159Q)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 137003	NM_001303.4(COX10):c.504G>A (p.Leu168=)	COX10	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 321814	NM_001303.4(COX10):c.543G>A (p.Pro181=)	COX10	Single nucleotide variant (synonymous variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 321815	NM_001303.4(COX10):c.624+4A>G	COX10	Single nucleotide variant (intron variant)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 667521	NM_001303.4(COX10):c.675G>T (p.Pro225=)	COX10	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 137010	NM_001303.4(COX10):c.682C>T (p.Arg228Cys)	COX10 (R228C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 136995	NM_001303.4(COX10):c.699A>G (p.Pro233=)	COX10, LOC105943586	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 890834	NM_001303.4(COX10):c.736C>T (p.Pro246Ser)	COX10, LOC105943586 (P246S)	Single nucleotide variant (missense variant)	Leigh syndrome +2 more	GUncertain significance
Select item 890835	NM_001303.4(COX10):c.870G>A (p.Val290=)	COX10, LOC105943586	Single nucleotide variant (synonymous variant)	Leigh syndrome +1 more	GUncertain significance
Select item 321816	NM_001303.4(COX10):c.909C>T (p.Ala303=)	COX10, LOC105943586	Single nucleotide variant (synonymous variant)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 136998	NM_001303.4(COX10):c.928+12G>A	COX10, LOC105943586	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 321817	NM_001303.4(COX10):c.929-9_929-7dup	COX10	Duplication (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 136999	NM_001303.4(COX10):c.929-7C>T	COX10	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 137000	NM_001303.4(COX10):c.981C>T (p.Asn327=)	COX10	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 137001	NM_001303.4(COX10):c.1038G>A (p.Ser346=)	COX10	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 137002	NM_001303.4(COX10):c.1096G>T (p.Val366Leu)	COX10 (V366L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 888614	NM_001303.4(COX10):c.1169C>T (p.Ala390Val)	COX10 (A390V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 445971	NM_001303.4(COX10):c.1291C>T (p.Arg431Trp)	COX10 (R431W)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 888615	NM_001303.4(COX10):c.1305C>T (p.Gly435=)	COX10	Single nucleotide variant (synonymous variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 321818	NM_001303.4(COX10):c.*13G>A	COX10	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 321820	NM_001303.4(COX10):c.150_152del	COX10	Deletion (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 321819	NM_001303.4(COX10):c.151_152del	COX10	Deletion (3 prime UTR variant)	not provided +2 more	GBenign
Select item 890315	NM_001303.4(COX10):c.*144T>C	COX10	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 321821	NM_001303.4(COX10):c.*152T>A	COX10	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 321822	NM_001303.4(COX10):c.*297G>A	COX10	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +2 more	GBenign
Select item 890316	NM_001303.4(COX10):c.*305A>G	COX10	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 321823	NM_001303.4(COX10):c.*322T>C	COX10	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GBenign
Select item 321824	NM_001303.4(COX10):c.*371A>G	COX10	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GBenign
Select item 321825	NM_001303.4(COX10):c.*408G>A	COX10	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 321826	NM_001303.4(COX10):c.*438G>C	COX10	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GBenign/Likely benign
Select item 892116	NM_001303.4(COX10):c.*485G>A	COX10	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 321827	NM_001303.4(COX10):c.*535C>A	COX10	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 892117	NM_001303.4(COX10):c.*539C>A	COX10	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 321828	NM_001303.4(COX10):c.*564dup	COX10	Duplication (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 321829	NM_001303.4(COX10):c.591_592del	COX10	Deletion (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 888669	NM_001303.4(COX10):c.*628C>T	COX10	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 321830	NM_001303.4(COX10):c.*628C>G	COX10	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 321832	NM_001303.4(COX10):c.*646C>G	COX10	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 321831	NM_001303.4(COX10):c.*646C>A	COX10	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +2 more	GBenign
Select item 888670	NM_001303.4(COX10):c.*653G>A	COX10	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 890373	NM_001303.4(COX10):c.*720G>A	COX10	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 321833	NM_001303.4(COX10):c.*739A>G	COX10	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 321834	NM_001303.4(COX10):c.*757T>C	COX10	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 321835	NM_001303.4(COX10):c.*823C>T	COX10	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 321836	NM_001303.4(COX10):c.*831CT[1]	COX10	Microsatellite (3 prime UTR variant)	Leigh syndrome +1 more	GBenign
Select item 890933	NM_001303.4(COX10):c.*859G>T	COX10	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 890934	NM_001303.4(COX10):c.*894G>T	COX10	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 890935	NM_001303.4(COX10):c.*904C>G	COX10	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GConflicting classifications of pathogenicity
Select item 321837	NM_001303.4(COX10):c.*974C>A	COX10	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GBenign/Likely benign
Select item 892165	NM_001303.4(COX10):c.*1002C>T	COX10	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 892166	NM_001303.4(COX10):c.*1032T>A	COX10	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 321838	NM_001303.4(COX10):c.*1076T>C	COX10	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GBenign
Select item 321839	NM_001303.4(COX10):c.*1078C>T	COX10	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 888723	NM_001303.4(COX10):c.*1079G>A	COX10	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 321840	NM_001303.4(COX10):c.*1101C>T	COX10	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 888724	NM_001303.4(COX10):c.*1148G>A	COX10	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 888725	NM_001303.4(COX10):c.*1267A>G	COX10	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 321841	NM_001303.4(COX10):c.*1324C>T	COX10	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GBenign/Likely benign
Select item 321842	NM_001303.4(COX10):c.*1367G>A	COX10	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 890428	NM_001303.4(COX10):c.*1383G>A	COX10	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 321843	NM_001303.4(COX10):c.*1385C>T	COX10	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 321844	NM_001303.4(COX10):c.*1459del	COX10	Deletion (3 prime UTR variant)	Mitochondrial complex 4 deficiency, nuclear type 3 +2 more	GUncertain significance
Select item 2671610	Single allele	CDRT15, CDRT4 +6 more	Deletion	not provided	GPathogenic
Select item 1803807	GRCh37/hg19 17p12(chr17:14098247-15475654)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 1328101	GRCh37/hg19 17p12(chr17:14073284-15442296)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1180510	GRCh37/hg19 17p12(chr17:14098196-15442500)x3	TEKT3, TVP23C +6 more	Copy number gain	not provided	GPathogenic

ClinVar

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Items: 89