CCDC9[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	AP2S1, ARHGAP35 +363 more	Copy number gain	See cases	GPathogenic
Select item 60103	GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	AP2S1, ARHGAP35 +123 more	Copy number loss	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	AP2S1, ARHGAP35 +290 more	Copy number gain	See cases	GPathogenic
Select item 149907	GRCh38/hg38 19q13.32-13.33(chr19:47253630-47744714)x3	BICRA, BICRA-AS2 +45 more	Copy number gain	See cases	GLikely benign
Select item 2579250	GRCh38/hg38 19q13.32-13.33(chr19:47257435-47886413)x1	BICRA, BICRA-AS2 +56 more	Copy number loss	Cone-rod dystrophy 2	GUncertain significance
Select item 2489424	NM_015603.3(CCDC9):c.64G>A (p.Glu22Lys)	CCDC9 (E22K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310777	NM_015603.3(CCDC9):c.98G>A (p.Arg33Gln)	CCDC9 (R33Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620689	NM_015603.3(CCDC9):c.148G>A (p.Val50Ile)	CCDC9 (V50I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550598	NM_015603.3(CCDC9):c.196G>C (p.Val66Leu)	CCDC9 (V66L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248120	NM_015603.3(CCDC9):c.196G>A (p.Val66Met)	CCDC9 (V66M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2315401	NM_015603.3(CCDC9):c.251C>T (p.Pro84Leu)	CCDC9 (P84L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372043	NM_015603.3(CCDC9):c.274G>C (p.Gly92Arg)	CCDC9 (G92R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374188	NM_015603.3(CCDC9):c.293A>G (p.Gln98Arg)	CCDC9 (Q98R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561286	NM_015603.3(CCDC9):c.304C>T (p.Arg102Trp)	CCDC9 (R102W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295763	NM_015603.3(CCDC9):c.305G>A (p.Arg102Gln)	CCDC9 (R102Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512632	NM_015603.3(CCDC9):c.313A>G (p.Met105Val)	CCDC9 (M105V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362471	NM_015603.3(CCDC9):c.382C>T (p.Arg128Cys)	CCDC9 (R128C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387330	NM_015603.3(CCDC9):c.433G>A (p.Asp145Asn)	CCDC9 (D145N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465751	NM_015603.3(CCDC9):c.451C>T (p.Arg151Cys)	CCDC9 (R151C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491308	NM_015603.3(CCDC9):c.452G>A (p.Arg151His)	CCDC9 (R151H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224292	NM_015603.3(CCDC9):c.610C>T (p.Pro204Ser)	CCDC9 (P204S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209608	NM_015603.3(CCDC9):c.622T>A (p.Ser208Thr)	CCDC9 (S208T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569646	NM_015603.3(CCDC9):c.637C>T (p.Arg213Trp)	CCDC9 (R213W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515458	NM_015603.3(CCDC9):c.649C>T (p.Arg217Cys)	CCDC9 (R217C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484997	NM_015603.3(CCDC9):c.652C>T (p.Arg218Trp)	CCDC9 (R218W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398238	NM_015603.3(CCDC9):c.679G>A (p.Asp227Asn)	CCDC9 (D227N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2562594	NM_015603.3(CCDC9):c.694C>T (p.Arg232Cys)	CCDC9 (R232C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550472	NM_015603.3(CCDC9):c.728G>A (p.Arg243Gln)	CCDC9 (R243Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260890	NM_015603.3(CCDC9):c.754A>G (p.Met252Val)	CCDC9 (M252V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402816	NM_015603.3(CCDC9):c.973C>T (p.Pro325Ser)	CCDC9 (P325S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232852	NM_015603.3(CCDC9):c.985A>G (p.Thr329Ala)	CCDC9 (T329A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529897	NM_015603.3(CCDC9):c.1030C>T (p.Arg344Cys)	CCDC9 (R344C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596128	NM_015603.3(CCDC9):c.1046G>A (p.Ser349Asn)	CCDC9 (S349N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384177	NM_015603.3(CCDC9):c.1091A>G (p.His364Arg)	CCDC9 (H364R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474343	NM_015603.3(CCDC9):c.1099C>T (p.Arg367Cys)	CCDC9 (R367C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362822	NM_015603.3(CCDC9):c.1175A>G (p.Lys392Arg)	CCDC9 (K392R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225618	NM_015603.3(CCDC9):c.1196C>G (p.Pro399Arg)	CCDC9 (P399R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470167	NM_015603.3(CCDC9):c.1219C>T (p.Arg407Trp)	CCDC9 (R407W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2650144	NM_015603.3(CCDC9):c.1236G>A (p.Glu412=)	CCDC9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2478464	NM_015603.3(CCDC9):c.1253G>A (p.Gly418Glu)	CCDC9 (G418E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399683	NM_015603.3(CCDC9):c.1264G>A (p.Glu422Lys)	CCDC9 (E422K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354362	NM_015603.3(CCDC9):c.1289A>G (p.Asp430Gly)	CCDC9 (D430G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290620	NM_015603.3(CCDC9):c.1302G>C (p.Glu434Asp)	CCDC9 (E434D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269095	NM_015603.3(CCDC9):c.1357C>T (p.Pro453Ser)	CCDC9 (P453S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619524	NM_015603.3(CCDC9):c.1370C>T (p.Pro457Leu)	CCDC9 (P457L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241334	NM_015603.3(CCDC9):c.1408C>T (p.Pro470Ser)	CCDC9 (P470S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591099	NM_015603.3(CCDC9):c.1409C>T (p.Pro470Leu)	CCDC9 (P470L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362970	NM_015603.3(CCDC9):c.1438C>T (p.Pro480Ser)	CCDC9 (P480S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237611	NM_015603.3(CCDC9):c.1460C>T (p.Ser487Phe)	CCDC9 (S487F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311453	NM_015603.3(CCDC9):c.1495G>A (p.Val499Met)	CCDC9 (V499M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2650145	NC_000019.10:g.47272131G>A	CCDC9	Single nucleotide variant	not provided	GLikely benign
Select item 2650146	NC_000019.10:g.47273406G>A	CCDC9, LOC130064806	Single nucleotide variant (genic downstream transcript variant)	not provided	GLikely benign
Select item 2515322	NM_178511.6(INAFM1):c.8G>A (p.Gly3Glu)	CCDC9, INAFM1 +1 more (G3E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485227	NM_178511.6(INAFM1):c.14G>C (p.Ser5Thr)	CCDC9, INAFM1 +1 more (S5T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617919	NM_178511.6(INAFM1):c.139C>G (p.Leu47Val)	CCDC9, INAFM1 +1 more (L47V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247111	NM_178511.6(INAFM1):c.145G>A (p.Val49Met)	CCDC9, INAFM1 +1 more (V49M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466148	NM_178511.6(INAFM1):c.149A>G (p.Tyr50Cys)	CCDC9, INAFM1 +1 more (Y50C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246701	NM_178511.6(INAFM1):c.157C>T (p.Leu53Phe)	CCDC9, INAFM1 +1 more (L53F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349830	NM_178511.6(INAFM1):c.218C>T (p.Ser73Phe)	CCDC9, INAFM1 +1 more (S73F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330281	NM_178511.6(INAFM1):c.230C>G (p.Ala77Gly)	CCDC9, INAFM1 +1 more (A77G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2343948	NM_178511.6(INAFM1):c.239C>G (p.Pro80Arg)	CCDC9, INAFM1 +1 more (P80R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455339	NM_178511.6(INAFM1):c.251C>G (p.Pro84Arg)	CCDC9, INAFM1 +1 more (P84R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386130	NM_178511.6(INAFM1):c.260C>T (p.Ala87Val)	CCDC9, INAFM1 +1 more (A87V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491205	NM_178511.6(INAFM1):c.350A>G (p.Tyr117Cys)	CCDC9, INAFM1 (Y117C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406321	NM_178511.6(INAFM1):c.356A>G (p.Asp119Gly)	INAFM1, CCDC9 (D119G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493856	NM_178511.6(INAFM1):c.371C>T (p.Pro124Leu)	CCDC9, INAFM1 (P124L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2589259	NM_178511.6(INAFM1):c.380A>G (p.Gln127Arg)	CCDC9, INAFM1 (Q127R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2504578	GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409)	CCDC9, DACT3 +25 more	Copy number gain	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 1526668	GRCh37/hg19 19q13.32(chr19:46918881-47782258)	AP2S1, ARHGAP35 +18 more	Copy number gain	not specified	GUncertain significance
Select item 816087	GRCh37/hg19 19q13.32-13.33(chr19:47331662-48234260)x3	ZNF541, EHD2 +17 more	Copy number gain	not provided	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	GPR4, LOC400706 +75 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 625762	GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536)	AP2S1, ARHGAP35 +33 more	Copy number gain	not provided	GPathogenic
Select item 493602	GRCh37/hg19 19q13.32(chr19:47228251-47867279)x3	AP2S1, ARHGAP35 +13 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 441540	GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1	SELENOW, SLC1A5 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 394131	GRCh37/hg19 19q13.32(chr19:47567615-47856225)x3	BBC3, C5AR1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 393971	GRCh37/hg19 19q13.32(chr19:47450549-47880338)x3	ARHGAP35, BBC3 +9 more	Copy number gain	See cases	GLikely pathogenic

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Items: 80