COX7C[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 144777	GRCh38/hg38 5q14.3(chr5:85816744-86713048)x3	COX7C, LOC113002595 +7 more	Copy number gain	See cases	GLikely benign
Select item 57325	GRCh38/hg38 5q14.3(chr5:85876480-88958682)x1	CCNH, COX7C +60 more	Copy number loss	See cases	GPathogenic
Select item 3235905	GRCh38/hg38 5q14.3(chr5:86235182-91734581)	ADGRV1, ARRDC3 +119 more	Copy number loss	5q14.3 microdeletion	GPathogenic
Select item 59628	GRCh38/hg38 5q14.3(chr5:86343721-88779835)x1	LOC129994182, LOC132089304 +52 more	Copy number loss	See cases	GPathogenic
Select item 3269062	NM_001867.3(COX7C):c.125G>A (p.Cys42Tyr)	COX7C (C42Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076490	NM_001867.3(COX7C):c.163G>A (p.Val55Ile)	COX7C (V55I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2685161	GRCh37/hg19 5q14.3(chr5:83186450-85958969)x1	COX7C, EDIL3	Copy number loss	not provided	GUncertain significance
Select item 1809474	GRCh37/hg19 5q14.3(chr5:85849576-86109647)x3	COX7C	Copy number gain	not provided	GUncertain significance
Select item 1527175	GRCh37/hg19 5q14.2-14.3(chr5:82185951-90110454)	ADGRV1, CCNH +15 more	Copy number loss	not specified	GPathogenic
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 689011	GRCh37/hg19 5q14.3(chr5:83497559-88416354)x1	CCNH, COX7C +5 more	Copy number loss	not provided	GPathogenic
Select item 686615	GRCh37/hg19 5q14.3(chr5:85607233-86539904)x3	COX7C	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +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 395337	GRCh37/hg19 5q14.3(chr5:85914403-86096388)x3	COX7C	Copy number gain	See cases	GLikely benign
Select item 221444	GRCh37/hg19 5q14.3(chr5:85913910-87524304)x3	CCNH, COX7C +2 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 20