"GeneDx"[submitter] AND "DLGAP2"[gene] - ClinVar

	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 60328	GRCh38/hg38 8p23.3(chr8:202100-2017223)x1	LOC126860273, LOC126860274 +49 more	Copy number loss	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 1272088	NM_001346810.2(DLGAP2):c.1391C>A (p.Pro464Gln)	DLGAP2, DLGAP2-AS1 (P464Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1221044	NM_001346810.2(DLGAP2):c.1810+14A>G	DLGAP2, LOC126860276	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264860	NM_001346810.2(DLGAP2):c.2034A>G (p.Glu678=)	DLGAP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1302831	NM_001346810.2(DLGAP2):c.2160+19C>G	DLGAP2	Single nucleotide variant (intron variant)	not provided	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

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