CCDC81[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	AAMDC, ACER3 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	LINC02553, LINC02700 +528 more	Copy number loss	See cases	GPathogenic
Select item 150919	GRCh38/hg38 11q14.1-14.2(chr11:84765986-86641166)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 144652	GRCh38/hg38 11q14.1-14.2(chr11:84828513-86641208)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 160941	GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 33851	GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
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 2381504	NM_001156474.2(CCDC81):c.152T>C (p.Ile51Thr)	CCDC81 (I51T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554315	NM_001156474.2(CCDC81):c.157G>C (p.Ala53Pro)	CCDC81 (A53P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139436	NM_001156474.2(CCDC81):c.200G>A (p.Gly67Glu)	CCDC81 (G67E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517469	NM_001156474.2(CCDC81):c.236T>G (p.Phe79Cys)	CCDC81 (F79C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139437	NM_001156474.2(CCDC81):c.241A>G (p.Met81Val)	CCDC81 (M81V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252079	NM_001156474.2(CCDC81):c.283A>G (p.Lys95Glu)	CCDC81 (K95E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235762	NM_001156474.2(CCDC81):c.313G>A (p.Val105Ile)	CCDC81 (V105I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139439	NM_001156474.2(CCDC81):c.317C>T (p.Pro106Leu)	CCDC81 (P106L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411820	NM_001156474.2(CCDC81):c.407G>A (p.Arg136His)	CCDC81 (R136H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254406	NM_001156474.2(CCDC81):c.428A>C (p.Asn143Thr)	CCDC81 (N143T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313615	NM_001156474.2(CCDC81):c.440C>T (p.Thr147Ile)	CCDC81 (T147I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622629	NM_001156474.2(CCDC81):c.470G>T (p.Arg157Ile)	CCDC81 (R157I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622630	NM_001156474.2(CCDC81):c.471A>T (p.Arg157Ser)	CCDC81 (R157S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139440	NM_001156474.2(CCDC81):c.491G>C (p.Arg164Thr)	CCDC81 (R164T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139441	NM_001156474.2(CCDC81):c.503A>T (p.Asp168Val)	CCDC81 (D168V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229977	NM_001156474.2(CCDC81):c.517A>G (p.Met173Val)	CCDC81 (M173V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278815	NM_001156474.2(CCDC81):c.518T>C (p.Met173Thr)	CCDC81 (M173T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398833	NM_001156474.2(CCDC81):c.789A>T (p.Arg263Ser)	CCDC81 (R173S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395609	NM_001156474.2(CCDC81):c.791A>G (p.Gln264Arg)	CCDC81 (Q264R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139443	NM_001156474.2(CCDC81):c.856G>A (p.Gly286Ser)	CCDC81 (G196S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139444	NM_001156474.2(CCDC81):c.886T>C (p.Ser296Pro)	CCDC81 (S206P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139431	NM_001156474.2(CCDC81):c.1024A>G (p.Ser342Gly)	CCDC81 (S252G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2616104	NM_001156474.2(CCDC81):c.1043A>T (p.Glu348Val)	CCDC81 (E348V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139432	NM_001156474.2(CCDC81):c.1048G>C (p.Glu350Gln)	CCDC81 (E350Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550853	NM_001156474.2(CCDC81):c.1064T>C (p.Ile355Thr)	CCDC81 (I265T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139433	NM_001156474.2(CCDC81):c.1241G>A (p.Arg414Gln)	CCDC81 (R414Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387279	NM_001156474.2(CCDC81):c.1256C>T (p.Ala419Val)	CCDC81 (A329V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540232	NM_001156474.2(CCDC81):c.1455A>C (p.Arg485Ser)	CCDC81 (R395S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228340	NM_001156474.2(CCDC81):c.1521G>C (p.Glu507Asp)	CCDC81 (E417D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365173	NM_001156474.2(CCDC81):c.1553T>C (p.Met518Thr)	CCDC81 (M518T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139434	NM_001156474.2(CCDC81):c.1583A>C (p.Tyr528Ser)	CCDC81 (Y438S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139435	NM_001156474.2(CCDC81):c.1586T>C (p.Met529Thr)	CCDC81 (M439T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246885	NM_001156474.2(CCDC81):c.1587G>T (p.Met529Ile)	CCDC81 (M529I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549589	NM_001156474.2(CCDC81):c.1658G>A (p.Arg553Gln)	CCDC81 (R463Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382568	NM_001156474.2(CCDC81):c.1666C>A (p.Gln556Lys)	CCDC81 (Q466K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613725	NM_001156474.2(CCDC81):c.1721A>C (p.Glu574Ala)	CCDC81 (E484A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518727	NM_001156474.2(CCDC81):c.1724G>A (p.Arg575Gln)	CCDC81 (R485Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364264	NM_001156474.2(CCDC81):c.1816C>T (p.Arg606Trp)	CCDC81 (R516W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296968	NM_001156474.2(CCDC81):c.1828A>G (p.Lys610Glu)	CCDC81 (K520E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397527	NM_001156474.2(CCDC81):c.1847A>G (p.Gln616Arg)	CCDC81 (Q616R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389181	NM_001156474.2(CCDC81):c.1862G>C (p.Arg621Pro)	CCDC81 (R621P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684651	GRCh37/hg19 11q14.2(chr11:86059790-86278534)x3	CCDC81, ME3	Copy number gain	not provided	GUncertain significance
Select item 2427027	NC_000011.9:g.(?_85339652)_(86666127_?)del	CCDC81, CCDC83 +11 more	Deletion	not provided	GPathogenic
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 1808656	GRCh37/hg19 11q14.1-14.3(chr11:80562738-88663067)x1	ANKRD42, CCDC81 +23 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527656	GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)	C11orf54, CCDC81 +39 more	Copy number loss	not specified	GLikely pathogenic
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	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815449	GRCh37/hg19 11q14.1-14.3(chr11:84830143-92029933)x3	CCDC81, CCDC83 +29 more	Copy number gain	not provided	GPathogenic
Select item 815445	GRCh37/hg19 11q14.1-14.2(chr11:83530179-87059742)x1	TMEM126A, PRSS23 +13 more	Copy number loss	not provided	GPathogenic
Select item 590793	GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187)	GRM5, HIKESHI +36 more	Copy number loss	Intellectual disability	GPathogenic
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 563851	GRCh37/hg19 11q14.2(chr11:85689406-86208902)x3	PICALM, CCDC81 +3 more	Copy number gain	not provided	GUncertain significance
Select item 560087	Single allele	EED, TMEM126A +13 more	Deletion	Exudative vitreoretinopathy 1	GPathogenic
Select item 443004	GRCh37/hg19 11q14.1-14.2(chr11:85506017-86930835)x3	CCDC81, CCDC83 +8 more	Copy number gain	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 67