"GeneDx"[submitter] AND "COX4I2"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 152494	GRCh38/hg38 20q11.21(chr20:31254983-31660401)x3	COX4I2, DEFB115 +27 more	Copy number gain	See cases	GUncertain significance
Select item 146032	GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3	LOC121627902, LOC121853002 +160 more	Copy number gain	See cases	GPathogenic
Select item 145102	GRCh38/hg38 20q11.21(chr20:31254983-32575288)x3	ABALON, ASXL1 +104 more	Copy number gain	See cases	GPathogenic
Select item 1292100	NC_000020.11:g.31637737G>T	COX4I2	Single nucleotide variant	not provided	GBenign
Select item 681930	NM_032609.3(COX4I2):c.-40G>A	COX4I2, LOC130065606	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1225894	NM_032609.3(COX4I2):c.-1+27C>T	COX4I2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258594	NM_032609.3(COX4I2):c.1-278C>G	COX4I2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267585	NM_032609.3(COX4I2):c.1-131G>A	COX4I2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244826	NM_032609.3(COX4I2):c.1-57G>C	COX4I2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 338031	NM_032609.3(COX4I2):c.1-6C>T	COX4I2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229499	NM_032609.3(COX4I2):c.83-97A>G	COX4I2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 338032	NM_032609.3(COX4I2):c.83-8_83-7del	COX4I2	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 668668	NM_032609.3(COX4I2):c.83-10G>T	COX4I2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 506588	NM_032609.3(COX4I2):c.114C>T (p.Thr38=)	COX4I2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 391212	NM_032609.3(COX4I2):c.234C>T (p.Ala78=)	COX4I2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1183218	NM_032609.3(COX4I2):c.247+257G>A	COX4I2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271777	NM_032609.3(COX4I2):c.379+299T>C	COX4I2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275666	NM_032609.3(COX4I2):c.380-282T>C	COX4I2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251432	NM_032609.3(COX4I2):c.380-119C>T	COX4I2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271229	NM_032609.3(COX4I2):c.380-67G>A	COX4I2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 338039	NM_032609.3(COX4I2):c.482G>A (p.Arg161His)	COX4I2 (R161H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1250923	NC_000020.11:g.31645101T>G	COX4I2	Single nucleotide variant	not provided	GBenign
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic

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Items: 24