Related gene-specific medical variations for Gene (Select 4685) - ClinVar - NCBI

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Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148897	GRCh37/hg19 21q21.1-21.2(chr21:21927356-24277822)x1	NCAM2	Copy number loss	not provided	GUncertain significance
Select item 2685657	GRCh37/hg19 21q21.1(chr21:22512344-22865665)x1	NCAM2	Copy number loss	not provided	GUncertain significance
Select item 1808220	GRCh37/hg19 21q21.1-21.2(chr21:22789290-24987949)x1	NCAM2	Copy number loss	not provided	GUncertain significance
Select item 1340057	GRCh37/hg19 21q21.1-21.2(chr21:22483884-24243920)x1	NCAM2	Copy number loss	not provided	GUncertain significance
Select item 980225	GRCh37/hg19 21q21.1-21.2(chr21:21315654-24758721)x1	NCAM2	Copy number loss	not provided	GUncertain significance
Select item 980223	GRCh37/hg19 21q21.1(chr21:21547660-22421168)x1	NCAM2	Copy number loss	not provided	GUncertain significance
Select item 979747	GRCh37/hg19 21q21.1(chr21:22206704-22504398)x3	NCAM2	Copy number gain	not provided	GLikely benign
Select item 816150	GRCh37/hg19 21q21.1(chr21:22751212-23009366)x3	NCAM2	Copy number gain	not provided	GUncertain significance
Select item 816149	GRCh37/hg19 21q21.1(chr21:22041946-22396557)x3	NCAM2	Copy number gain	not provided	GUncertain significance
Select item 688737	GRCh37/hg19 21q21.1(chr21:22828560-23175982)x3	NCAM2	Copy number gain	not provided	GUncertain significance
Select item 564673	GRCh37/hg19 21q21.1(chr21:21068283-22747570)x3	NCAM2	Copy number gain	not provided	GUncertain significance
Select item 564671	GRCh37/hg19 21q21.1(chr21:22162495-23773351)x3	NCAM2	Copy number gain	not provided	GUncertain significance
Select item 564663	GRCh37/hg19 21q21.1(chr21:22589601-23392840)x1	NCAM2	Copy number loss	not provided	GUncertain significance
Select item 221888	GRCh37/hg19 21q21.1-21.2(chr21:19888645-25594975)x3	NCAM2	Copy number gain	Premature ovarian failure	GBenign
Select item 147392	GRCh38/hg38 21q21.1(chr21:21391425-21632779)x3	NCAM2	Copy number gain	See cases	GUncertain significance