ClinVar for Gene (Select 3732) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336817	NM_002231.4(CD82):c.760C>T (p.Arg254Trp)	CD82 (R254W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336816	NM_002231.4(CD82):c.579C>T (p.Cys193=)	CD82	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3244782	NC_000011.9:g.(?_44129263)_(44745049_?)del	ALX4, CD82 +1 more	Deletion	not provided	GPathogenic
Select item 3140680	NM_002231.4(CD82):c.95T>C (p.Val32Ala)	CD82 (V32A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140679	NM_002231.4(CD82):c.680A>C (p.Asn227Thr)	CD82 (N202T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140678	NM_002231.4(CD82):c.615C>G (p.His205Gln)	CD82 (H180Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140677	NM_002231.4(CD82):c.584C>T (p.Ala195Val)	CD82 (A195V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140676	NM_002231.4(CD82):c.494T>G (p.Met165Arg)	CD82 (M165R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2684641	GRCh37/hg19 11p11.2(chr11:44444970-44629409)x3	CD82	Copy number gain	not provided	GUncertain significance
Select item 2400107	NM_002231.4(CD82):c.691A>G (p.Ile231Val)	CD82 (I231V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392152	NM_002231.4(CD82):c.124A>G (p.Ile42Val)	CD82 (I42V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388678	NM_002231.4(CD82):c.793C>T (p.Pro265Ser)	CD82 (P240S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386978	NM_002231.4(CD82):c.653A>G (p.Glu218Gly)	CD82 (E193G +1 more)	Single nucleotide variant (missense variant)	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 2355133	NM_002231.4(CD82):c.800A>G (p.Tyr267Cys)	CD82 (Y267C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338499	NM_002231.4(CD82):c.580G>A (p.Glu194Lys)	CD82 (E194K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309305	NM_002231.4(CD82):c.724G>A (p.Glu242Lys)	CD82 (E217K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291159	NM_002231.4(CD82):c.651G>A (p.Met217Ile)	CD82 (M192I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258225	NM_002231.4(CD82):c.517C>T (p.Pro173Ser)	CD82 (P148S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707462	Single allele	ACCS, ACCSL +64 more	Duplication	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703555	GRCh37/hg19 11p11.2(chr11:43769957-44952669)	ACCS, ACCSL +7 more	Copy number loss	Potocki-Shaffer syndrome	GPathogenic
Select item 1340048	GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1	ACCS, ACCSL +33 more	Copy number loss	not provided	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979916	GRCh37/hg19 11p11.2(chr11:44266593-46123796)x4	ALX4, CD82 +13 more	Copy number gain	not provided	GUncertain significance
Select item 815432	GRCh37/hg19 11p11.2(chr11:44568649-44842619)x3	CD82, TSPAN18	Copy number gain	not provided	GUncertain significance
Select item 815431	GRCh37/hg19 11p11.2(chr11:44502129-44788186)x3	CD82, TSPAN18	Copy number gain	not provided	GUncertain significance
Select item 815429	GRCh37/hg19 11p11.2(chr11:43664817-44889240)x3	CD82, C11orf96 +7 more	Copy number gain	not provided	GUncertain significance
Select item 789795	NM_002231.4(CD82):c.744G>C (p.Leu248=)	CD82	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786594	NM_002231.4(CD82):c.699C>T (p.Gly233=)	CD82	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 154372	GRCh38/hg38 11p12-11.2(chr11:39684826-44845260)x1	ACCS, ACCSL +72 more	Copy number loss	See cases	GPathogenic
Select item 154181	GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1	LOC132089937, LOC132089938 +112 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 144293	GRCh38/hg38 11p12-11.2(chr11:40688674-44913409)x3	ACCS, ACCSL +74 more	Copy number gain	See cases	GUncertain significance
Select item 58891	GRCh38/hg38 11p11.2(chr11:44136593-46121139)x1	ALX4, CD82 +79 more	Copy number loss	See cases	GPathogenic
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	ACCS, ACCSL +225 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 43