LOC126806299[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 57183	GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3	C2orf49, C2orf49-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
Select item 145956	GRCh38/hg38 2q12.1-12.3(chr2:104381722-107312459)x1	C2orf49, C2orf49-DT +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 58900	GRCh38/hg38 2q12.2-12.3(chr2:105828398-108080417)x3	CD8B2, ECRG4 +33 more	Copy number gain	See cases	GUncertain significance
Select item 154199	GRCh38/hg38 2q12.2-12.3(chr2:106170872-106809420)x3	UXS1, CD8B2 +11 more	Copy number gain	See cases	GUncertain significance
Select item 57562	GRCh38/hg38 2q12.2-12.3(chr2:106260759-107904531)x1	CD8B2, GACAT1 +15 more	Copy number loss	See cases	GUncertain significance
Select item 152541	GRCh38/hg38 2q12.2-12.3(chr2:106261594-107166471)x3	CD8B2, LOC112695111 +6 more	Copy number gain	See cases	GLikely benign
Select item 57563	GRCh38/hg38 2q12.2-12.3(chr2:106261594-107786796)x1	CD8B2, GACAT1 +12 more	Copy number loss	See cases	GUncertain significance
Select item 560118	Single allele	CD8B2, GACAT1 +13 more	Deletion	not provided	GUncertain significance
Select item 152239	GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3	ACOXL, ACOXL-AS1 +154 more	Copy number gain	See cases	GUncertain significance
Select item 545240	NC_000002.12:g.(?_106445028)_(107839483_?)del	CD8B2, GACAT1 +11 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 150754	GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3	CCDC138, CD8B2 +99 more	Copy number gain	See cases	GUncertain significance
Select item 59313	GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3	CCDC138, EDAR +93 more	Copy number gain	See cases	GUncertain significance