CCDC82[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 2249738	NM_024725.4(CCDC82):c.1447T>C (p.Phe483Leu)	CCDC82 (F460L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139448	NM_024725.4(CCDC82):c.1412G>A (p.Arg471His)	CCDC82 (R448H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360648	NM_024725.4(CCDC82):c.1411C>T (p.Arg471Cys)	CCDC82 (R448C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565576	NM_024725.4(CCDC82):c.1408A>C (p.Ser470Arg)	CCDC82 (S447R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139447	NM_024725.4(CCDC82):c.1369C>T (p.His457Tyr)	CCDC82 (H457Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264326	NM_024725.4(CCDC82):c.1359T>A (p.Asn453Lys)	CCDC82 (N430K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367952	NM_024725.4(CCDC82):c.1341G>C (p.Arg447Ser)	CCDC82 (R447S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509011	NM_024725.4(CCDC82):c.1294T>C (p.Tyr432His)	CCDC82 (Y409H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2571726	NM_024725.4(CCDC82):c.1269del (p.Cys424fs)	CCDC82 (C401fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2224760	NM_024725.4(CCDC82):c.1219G>A (p.Glu407Lys)	CCDC82 (E407K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325016	NM_024725.4(CCDC82):c.1202A>G (p.Gln401Arg)	CCDC82 (Q401R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139445	NM_024725.4(CCDC82):c.1163G>A (p.Arg388His)	CCDC82 (R365H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305689	NM_024725.4(CCDC82):c.1045A>G (p.Ile349Val)	CCDC82 (I349V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538385	NM_024725.4(CCDC82):c.880A>G (p.Ile294Val)	CCDC82 (I271V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379099	NM_024725.4(CCDC82):c.868G>A (p.Gly290Arg)	CCDC82 (G290R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333102	NM_024725.4(CCDC82):c.790T>G (p.Ser264Ala)	CCDC82 (S264A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139455	NM_024725.4(CCDC82):c.787G>A (p.Asp263Asn)	CCDC82 (D240N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139454	NM_024725.4(CCDC82):c.763C>T (p.Arg255Cys)	CCDC82 (R232C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139453	NM_024725.4(CCDC82):c.754C>T (p.Arg252Cys)	CCDC82 (R229C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295179	NM_024725.4(CCDC82):c.731A>G (p.Lys244Arg)	CCDC82 (K221R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226089	NM_024725.4(CCDC82):c.653G>T (p.Gly218Val)	CCDC82 (G195V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359009	NM_024725.4(CCDC82):c.631C>T (p.Arg211Cys)	CCDC82 (R188C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264325	NM_024725.4(CCDC82):c.560C>T (p.Ser187Phe)	CCDC82 (S187F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139451	NM_024725.4(CCDC82):c.541A>G (p.Lys181Glu)	CCDC82 (K158E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351296	NM_024725.4(CCDC82):c.536G>A (p.Arg179Gln)	CCDC82 (R156Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1048083	NM_024725.4(CCDC82):c.535C>T (p.Arg179Ter)	CCDC82 (R156* +1 more)	Single nucleotide variant (nonsense)	Syndromic intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 2405184	NM_024725.4(CCDC82):c.475G>A (p.Asp159Asn)	CCDC82 (D159N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139450	NM_024725.4(CCDC82):c.429A>C (p.Gln143His)	CCDC82 (Q143H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607278	NM_024725.4(CCDC82):c.389T>C (p.Leu130Ser)	CCDC82 (L130S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2340127	NM_024725.4(CCDC82):c.386A>G (p.His129Arg)	CCDC82 (H129R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1687058	NM_024725.4(CCDC82):c.373del (p.Asp125fs)	CCDC82 (D125fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 786923	NM_024725.4(CCDC82):c.322A>G (p.Thr108Ala)	CCDC82 (T108A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2528458	NM_024725.4(CCDC82):c.289A>G (p.Ser97Gly)	CCDC82 (S97G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295720	NM_024725.4(CCDC82):c.265A>G (p.Lys89Glu)	CCDC82 (K89E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525254	NM_024725.4(CCDC82):c.215G>C (p.Gly72Ala)	CCDC82 (G72A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2571812	NM_024725.4(CCDC82):c.205del (p.Ser69fs)	CCDC82 (S69fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 986805	NM_024725.4(CCDC82):c.183del (p.Phe61fs)	CCDC82 (F61fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2268612	NM_024725.4(CCDC82):c.162G>T (p.Glu54Asp)	CCDC82 (E54D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297907	NM_024725.4(CCDC82):c.118A>G (p.Ser40Gly)	CCDC82 (S40G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642308	NM_024725.4(CCDC82):c.100A>G (p.Ile34Val)	CCDC82 (I34V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1708245	NM_024725.4(CCDC82):c.67C>T (p.Arg23Ter)	CCDC82 (R23*)	Single nucleotide variant (nonsense)	Intellectual disability	GLikely pathogenic
Select item 3139449	NM_024725.4(CCDC82):c.31A>G (p.Arg11Gly)	CCDC82 (R11G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599004	NM_024725.4(CCDC82):c.26C>G (p.Thr9Arg)	CCDC82 (T9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527655	GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	AMOTL1, ANKRD42 +66 more	Copy number loss	not specified	GPathogenic
Select item 1527654	GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	AMOTL1, ANKRD42 +72 more	Copy number loss	not specified	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	FDXACB1, FUT4 +94 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980971	GRCh37/hg19 11q21-22.1(chr11:95822513-97875558)x3	CCDC82, JRKL +1 more	Copy number gain	not provided	GUncertain significance
Select item 815459	GRCh37/hg19 11q21-22.1(chr11:95878455-98553076)x1	MAML2, CCDC82 +1 more	Copy number loss	not provided	GUncertain significance
Select item 815458	GRCh37/hg19 11q21(chr11:95841847-96810072)x3	JRKL, CCDC82 +1 more	Copy number gain	not provided	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
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 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 61