Related gene-specific medical variations for Gene (Select 114788) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063047	GRCh37/hg19 8q23.3(chr8:113311613-113358518)x1	CSMD3	Copy number loss	not specified	GUncertain significance
Select item 2688893	NM_198123.2(CSMD3):c.4499T>C (p.Ile1500Thr)	CSMD3 (I1370T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1808904	GRCh37/hg19 8q23.3(chr8:113250743-114226754)x1	CSMD3	Copy number loss	not provided	GUncertain significance
Select item 1807618	GRCh37/hg19 8q23.3(chr8:113499263-116350969)x1	CSMD3	Copy number loss	not provided	GUncertain significance
Select item 1679774	NM_198123.2(CSMD3):c.1929G>A (p.Thr643=)	CSMD3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1527463	GRCh37/hg19 8q23.3(chr8:113621572-113688239)	CSMD3	Copy number gain	not specified	GUncertain significance
Select item 1527462	GRCh37/hg19 8q23.3(chr8:113385673-113734387)	CSMD3	Copy number loss	not specified	GUncertain significance
Select item 1342524	NM_198123.2(CSMD3):c.8282A>T (p.Glu2761Val)	CSMD3 (E2561V +3 more)	Single nucleotide variant (missense variant)	CSMD3-associated Hirschsprung disease	GUncertain significance
Select item 979852	GRCh37/hg19 8q23.3(chr8:114162022-114432412)x1	CSMD3	Copy number loss	not provided	GUncertain significance
Select item 979850	GRCh37/hg19 8q23.3(chr8:113376420-113612654)x1	CSMD3	Copy number loss	not provided	GUncertain significance
Select item 688238	GRCh37/hg19 8q23.3(chr8:114207756-114372528)x1	CSMD3	Copy number loss	not provided	GUncertain significance
Select item 687647	GRCh37/hg19 8q23.3(chr8:113552685-113612559)x1	CSMD3	Copy number loss	not provided	GUncertain significance
Select item 563515	GRCh37/hg19 8q23.3(chr8:113543376-114635779)x3	CSMD3	Copy number gain	not provided	GLikely benign
Select item 563503	GRCh37/hg19 8q23.3(chr8:113652238-114290032)x1	CSMD3	Copy number loss	not provided	GUncertain significance
Select item 563488	GRCh37/hg19 8q23.3(chr8:113593865-113999858)x1	CSMD3	Copy number loss	not provided	GUncertain significance
Select item 563464	GRCh37/hg19 8q23.3(chr8:113594164-113840118)x1	CSMD3	Copy number loss	not provided	GUncertain significance
Select item 563460	GRCh37/hg19 8q23.3(chr8:114128302-114353437)x1	CSMD3	Copy number loss	not provided	GUncertain significance
Select item 443918	GRCh37/hg19 8q23.3(chr8:114132971-114353437)x1	CSMD3	Copy number loss	See cases	GUncertain significance
Select item 442482	GRCh37/hg19 8q23.3(chr8:114132971-114357413)x1	CSMD3	Copy number loss	See cases	GUncertain significance
Select item 442351	GRCh37/hg19 8q23.3(chr8:112550601-113533307)x1	CSMD3	Copy number loss	See cases	GLikely benign
Select item 394169	GRCh37/hg19 8q23.3(chr8:114236551-114327680)x3	CSMD3	Copy number gain	See cases	GBenign
Select item 154705	GRCh38/hg38 8q23.3(chr8:112917511-113118926)x1	CSMD3	Copy number loss	See cases	GUncertain significance
Select item 150367	GRCh38/hg38 8q23.3(chr8:113104074-113326221)x1	CSMD3	Copy number loss	See cases	GUncertain significance
Select item 144942	GRCh38/hg38 8q23.3(chr8:113187763-113326162)x3	CSMD3	Copy number gain	See cases	GBenign

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Links from Gene

Items: 24