"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "COX10"[gen - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1335255	NM_001303.4(COX10):c.306C>T (p.Leu102=)	COX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 449007	NM_001303.4(COX10):c.311C>T (p.Pro104Leu)	COX10 (P104L)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 3 +3 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 3026902	NM_001303.4(COX10):c.675G>A (p.Pro225=)	COX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1013385	NM_001303.4(COX10):c.724TGT[1] (p.Cys243del)	COX10, LOC105943586 (C243del)	Microsatellite (inframe_deletion)	Mitochondrial complex 4 deficiency, nuclear type 3 +1 more	GUncertain significance
Select item 808237	NM_001303.4(COX10):c.763G>A (p.Val255Met)	COX10, LOC105943586 (V255M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647496	NM_001303.4(COX10):c.858G>C (p.Trp286Cys)	COX10, LOC105943586 (W286C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 444400	NM_001303.4(COX10):c.906G>A (p.Ala302=)	LOC105943586, COX10	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 444401	NM_001303.4(COX10):c.1061G>A (p.Arg354Gln)	COX10 (R354Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1335256	NM_001303.4(COX10):c.1104C>A (p.Ser368=)	COX10	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
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 384245	NM_001303.4(COX10):c.1305C>G (p.Gly435=)	COX10	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 2672715	GRCh37/hg19 17p12(chr17:14095306-15472344)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 2498729	GRCh37/hg19 17p12(chr17:14095306-15472344)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 2498728	GRCh37/hg19 17p12(chr17:14095306-15466762)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1879390	GRCh37/hg19 17p12(chr17:14110127-15472344)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 20