"ISCA Site 6"[submitter] AND "CSMD1"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59736	GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3	AGPAT5, ANGPT2 +380 more	Copy number gain	See cases	GPathogenic
Select item 60330	GRCh38/hg38 8p23.3-23.1(chr8:219853-7084815)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 60329	GRCh38/hg38 8p23.3-23.2(chr8:219853-3814398)x1	ARHGEF10, CLN8 +68 more	Copy number loss	See cases	GPathogenic
Select item 59737	GRCh38/hg38 8p23.3-23.1(chr8:219853-10165486)x3	AGPAT5, ANGPT2 +255 more	Copy number gain	See cases	GPathogenic
Select item 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	LOC101929290, LOC102723313 +448 more	Copy number gain	See cases	GPathogenic
Select item 145967	GRCh38/hg38 8p23.3-23.1(chr8:410369-7477103)x1	AGPAT5, ANGPT2 +135 more	Copy number loss	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394656	GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4	AGPAT5, ANGPT2 +86 more	Copy number gain	See cases	GPathogenic
Select item 394635	GRCh37/hg19 8p23.3-23.1(chr8:163166-6735327)x1	AGPAT5, ANGPT2 +13 more	Copy number loss	See cases	GPathogenic
Select item 394377	GRCh37/hg19 8p23.3-23.1(chr8:190822-6735327)x1	AGPAT5, ANGPT2 +13 more	Copy number loss	See cases	GPathogenic
Select item 394303	GRCh37/hg19 8p23.2(chr8:3988085-4069370)x1	CSMD1	Copy number loss	See cases	GBenign
Select item 394162	GRCh37/hg19 8p23.2(chr8:4328231-4406745)x1	CSMD1	Copy number loss	See cases	GBenign