ClinVar for Gene (Select 126568847) - ClinVar - NCBI

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Links from Gene

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3140675	NM_002231.4(CD82):c.169T>C (p.Tyr57His)	CD82, CD82-AS1 (Y57H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2382012	NM_002231.4(CD82):c.226G>A (p.Gly76Ser)	CD82, CD82-AS1 (G76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707462	Single allele	ACCS, ACCSL +63 more	Duplication	not specified	GUncertain significance
Select item 711550	NM_002231.4(CD82):c.186G>A (p.Val62=)	CD82, CD82-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 154372	GRCh38/hg38 11p12-11.2(chr11:39684826-44845260)x1	ACCS, ACCSL +71 more	Copy number loss	See cases	GPathogenic
Select item 154181	GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1	LOC130005592, LOC130005593 +111 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +254 more	Copy number gain	See cases	GLikely pathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +264 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	LOC130005585, LOC130005586 +258 more	Copy number loss	See cases	GPathogenic
Select item 144293	GRCh38/hg38 11p12-11.2(chr11:40688674-44913409)x3	ACCS, ACCSL +73 more	Copy number gain	See cases	GUncertain significance
Select item 58891	GRCh38/hg38 11p11.2(chr11:44136593-46121139)x1	ALX4, CD82 +78 more	Copy number loss	See cases	GPathogenic
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	LOC130005622, LOC130005623 +224 more	Copy number loss	See cases	GPathogenic