"GeneDx"[submitter] AND "CSMD1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 58955	GRCh38/hg38 8p23.3-23.2(chr8:1891352-3929104)x1	ARHGEF10, CSMD1 +25 more	Copy number loss	See cases	GUncertain significance
Select item 58378	GRCh38/hg38 8p23.3-23.2(chr8:2475295-3391665)x3	CSMD1, LINC03021 +9 more	Copy number gain	See cases	GUncertain significance
Select item 58956	GRCh38/hg38 8p23.2(chr8:2605460-3989878)x1	CSMD1, LINC03021 +10 more	Copy number loss	See cases	GUncertain significance
Select item 1276961	NM_033225.6(CSMD1):c.10536-11G>A	CSMD1, LOC105377785	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244094	NM_033225.6(CSMD1):c.3108A>G (p.Thr1036=)	CSMD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1326599	NM_033225.6(CSMD1):c.2541G>A (p.Leu847=)	CSMD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 145753	GRCh38/hg38 8p23.2(chr8:4132365-4211848)x1	CSMD1, LOC107522030	Copy number loss	See cases	GBenign
Select item 145682	GRCh38/hg38 8p23.2(chr8:4479463-4557063)x1	CSMD1	Copy number loss	See cases	GBenign
Select item 152209	GRCh38/hg38 8p23.2(chr8:4725294-4774270)x3	CSMD1	Copy number gain	See cases	GBenign
Select item 152009	GRCh38/hg38 8p23.2(chr8:4867587-4891747)x1	CSMD1	Copy number loss	See cases	GBenign
Select item 145289	GRCh38/hg38 8p23.2(chr8:4867646-4891747)x1	CSMD1	Copy number loss	See cases	GBenign
Select item 253407	GRCh37/hg19 8p23.3-22(chr8:158991-13304906)x3	DEFB135, DEFB136 +73 more	Copy number gain	See cases	GPathogenic
Select item 253391	GRCh37/hg19 8p23.3-23.1(chr8:190822-6735381)x1	AGPAT5, ANGPT2 +13 more	Copy number loss	See cases	GPathogenic