CCDC89[gene] - ClinVar

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Items: 54

	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 59771	GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3	ANKRD42, ANKRD42-DT +117 more	Copy number gain	See cases	GPathogenic
Select item 150919	GRCh38/hg38 11q14.1-14.2(chr11:84765986-86641166)x3	CCDC81, CCDC83 +51 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 2271663	NM_152723.3(CCDC89):c.1105C>T (p.Leu369Phe)	CCDC89 (L369F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547629	NM_152723.3(CCDC89):c.1103A>G (p.Lys368Arg)	CCDC89 (K368R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395353	NM_152723.3(CCDC89):c.1043C>A (p.Ser348Tyr)	CCDC89 (S348Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139599	NM_152723.3(CCDC89):c.1001T>C (p.Val334Ala)	CCDC89 (V334A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517009	NM_152723.3(CCDC89):c.938G>A (p.Arg313Gln)	CCDC89 (R313Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590757	NM_152723.3(CCDC89):c.901G>A (p.Glu301Lys)	CCDC89 (E301K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139605	NM_152723.3(CCDC89):c.854T>A (p.Val285Glu)	CCDC89 (V285E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410640	NM_152723.3(CCDC89):c.853G>A (p.Val285Met)	CCDC89 (V285M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264412	NM_152723.3(CCDC89):c.829C>G (p.Gln277Glu)	CCDC89 (Q277E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305092	NM_152723.3(CCDC89):c.817G>A (p.Glu273Lys)	CCDC89 (E273K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601614	NM_152723.3(CCDC89):c.758C>A (p.Thr253Lys)	CCDC89 (T253K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320316	NM_152723.3(CCDC89):c.738G>C (p.Gln246His)	CCDC89 (Q246H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139604	NM_152723.3(CCDC89):c.624G>T (p.Glu208Asp)	CCDC89 (E208D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607349	NM_152723.3(CCDC89):c.602C>T (p.Ala201Val)	CCDC89 (A201V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311778	NM_152723.3(CCDC89):c.548G>A (p.Cys183Tyr)	CCDC89 (C183Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139603	NM_152723.3(CCDC89):c.517G>C (p.Glu173Gln)	CCDC89 (E173Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317620	NM_152723.3(CCDC89):c.490C>A (p.Leu164Ile)	CCDC89 (L164I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317619	NM_152723.3(CCDC89):c.476T>A (p.Leu159Gln)	CCDC89 (L159Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139602	NM_152723.3(CCDC89):c.341C>T (p.Ala114Val)	CCDC89 (A114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481021	NM_152723.3(CCDC89):c.313A>T (p.Met105Leu)	CCDC89 (M105L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223769	NM_152723.3(CCDC89):c.279C>G (p.Ile93Met)	CCDC89 (I93M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139601	NM_152723.3(CCDC89):c.251C>T (p.Ser84Leu)	CCDC89 (S84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478522	NM_152723.3(CCDC89):c.250T>G (p.Ser84Ala)	CCDC89 (S84A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569793	NM_152723.3(CCDC89):c.206G>T (p.Arg69Leu)	CCDC89 (R69L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234642	NM_152723.3(CCDC89):c.205C>T (p.Arg69Cys)	CCDC89 (R69C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264411	NM_152723.3(CCDC89):c.203C>T (p.Ser68Phe)	CCDC89 (S68F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285220	NM_152723.3(CCDC89):c.109A>G (p.Thr37Ala)	CCDC89 (T37A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543205	NM_152723.3(CCDC89):c.50C>A (p.Pro17Gln)	CCDC89 (P17Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139600	NM_152723.3(CCDC89):c.13A>G (p.Met5Val)	CCDC89 (M5V)	Single nucleotide variant (missense variant)	not specified	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	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527657	GRCh37/hg19 11q14.1-14.2(chr11:85324893-85757693)	CCDC83, CCDC89 +6 more	Copy number loss	not specified	GUncertain significance
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 997825	Single allele	MMP13, MMP20 +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 560087	Single allele	EED, TMEM126A +13 more	Deletion	Exudative vitreoretinopathy 1	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 394269	GRCh37/hg19 11q14.1(chr11:85365100-85459435)x3	CCDC89, CREBZF +2 more	Copy number gain	See cases	GLikely benign

ClinVar

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Items: 54