Related gene-specific medical variations for Gene (Select 10718) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685384	GRCh37/hg19 10q23.1(chr10:84052682-84220300)x1	NRG3	Copy number loss	not provided	GUncertain significance
Select item 2684610	GRCh37/hg19 10q23.1(chr10:84171337-84996714)x3	NRG3	Copy number gain	not provided	GUncertain significance
Select item 1341182	GRCh37/hg19 10q23.1(chr10:84224173-84996714)x3	NRG3	Copy number gain	not provided	GUncertain significance
Select item 1340574	GRCh37/hg19 10q23.1(chr10:83955621-84084069)x1	NRG3	Copy number loss	not provided	GLikely benign
Select item 1340476	GRCh37/hg19 10q23.1(chr10:84101169-84147598)x1	NRG3	Copy number loss	not provided	GUncertain significance
Select item 1340431	GRCh37/hg19 10q23.1(chr10:83500374-83809170)x3	NRG3	Copy number gain	not provided	GLikely benign
Select item 979278	GRCh37/hg19 10q23.1(chr10:82802340-85645599)x1	NRG3	Copy number loss	not provided	GUncertain significance
Select item 979276	GRCh37/hg19 10q23.1(chr10:83872353-83993705)x1	NRG3	Copy number loss	not provided	GUncertain significance
Select item 815364	GRCh37/hg19 10q23.1(chr10:84213250-84415688)x3	NRG3	Copy number gain	not provided	GUncertain significance
Select item 691408	NM_001010848.4(NRG3):c.1986C>T (p.Ser662=)	NRG3	Single nucleotide variant (synonymous variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 691407	NM_001010848.4(NRG3):c.1770A>G (p.Pro590=)	NRG3	Single nucleotide variant (synonymous variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 691406	NM_001010848.4(NRG3):c.823+1856C>G	NRG3 (T20R)	Single nucleotide variant (missense variant +2 more)	Aganglionic megacolon	GUncertain significance
Select item 687484	GRCh37/hg19 10q23.1(chr10:83840541-85657735)x3	NRG3	Copy number gain	not provided	GUncertain significance
Select item 685280	GRCh37/hg19 10q23.1(chr10:83438978-83696170)x3	NRG3	Copy number gain	not provided	GUncertain significance
Select item 685029	GRCh37/hg19 10q23.1(chr10:83070210-84091078)x1	NRG3	Copy number loss	not provided	GUncertain significance
Select item 563773	GRCh37/hg19 10q23.1(chr10:82489622-84101126)x3	NRG3	Copy number gain	not provided	GUncertain significance
Select item 563753	GRCh37/hg19 10q23.1(chr10:83239071-83844327)x3	NRG3	Copy number gain	not provided	GUncertain significance
Select item 547136	GRCh37/hg19 10q23.1(chr10:84462140-85366702)x3	NRG3	Copy number gain	not provided	GLikely benign
Select item 394806	GRCh37/hg19 10q23.1(chr10:84232776-84392016)x1	NRG3	Copy number loss	See cases	GLikely benign
Select item 393752	GRCh37/hg19 10q23.1(chr10:84232776-84433985)x3	NRG3	Copy number gain	See cases	GBenign
Select item 242848	GRCh37/hg19 10q23.1(chr10:83920497-84062405)x1	NRG3	Copy number loss	See cases	GUncertain significance
Select item 157180	NM_001010848.3(NRG3):c.824-173790_824-159316del	NRG3	Deletion	Preeclampsia +1 more	Gnot provided
Select item 150463	GRCh38/hg38 10q23.1(chr10:82320104-82494758)x1	NRG3	Copy number loss	See cases	GLikely benign
Select item 148734	GRCh38/hg38 10q23.1(chr10:82855342-82888244)x3	NRG3	Copy number gain	See cases	GUncertain significance
Select item 145927	GRCh38/hg38 10q23.1(chr10:82781346-82801839)x1	NRG3	Copy number loss	See cases	GLikely benign
Select item 144989	GRCh38/hg38 10q23.1(chr10:82377919-82510252)x1	NRG3	Copy number loss	See cases	GBenign
Select item 59400	GRCh38/hg38 10q23.1(chr10:82322554-82359096)x1	NRG3	Copy number loss	See cases	GUncertain significance

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Links from Gene

Items: 27