CCDC117[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 59072	GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1	AP1B1, ASPHD2 +122 more	Copy number loss	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 59056	GRCh38/hg38 22q12.1(chr22:27557778-28988149)x3	CCDC117, CHEK2 +32 more	Copy number gain	See cases	GUncertain significance
Select item 59074	GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)x1	AP1B1, ASCC2 +89 more	Copy number loss	See cases	GPathogenic
Select item 150220	GRCh38/hg38 22q12.1(chr22:28441053-28819615)x3	CCDC117, CHEK2 +11 more	Copy number gain	See cases	GLikely benign
Select item 2384117	NM_173510.4(CCDC117):c.94T>C (p.Phe32Leu)	CCDC117 (F32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487709	NM_173510.4(CCDC117):c.120G>C (p.Glu40Asp)	CCDC117 (E40D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2333655	NM_173510.4(CCDC117):c.130C>T (p.Arg44Trp)	CCDC117 (R44W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138278	NM_173510.4(CCDC117):c.151C>T (p.Pro51Ser)	CCDC117 (P51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263362	NM_173510.4(CCDC117):c.155G>C (p.Ser52Thr)	CCDC117 (S52T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138279	NM_173510.4(CCDC117):c.157A>G (p.Ser53Gly)	CCDC117 (S53G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263799	NM_173510.4(CCDC117):c.164C>T (p.Ala55Val)	CCDC117 (A55V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138280	NM_173510.4(CCDC117):c.164C>G (p.Ala55Gly)	CCDC117 (A55G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2355598	NM_173510.4(CCDC117):c.169A>C (p.Ser57Arg)	CCDC117 (S57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138281	NM_173510.4(CCDC117):c.191C>T (p.Ser64Phe)	CCDC117 (S64F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2407361	NM_173510.4(CCDC117):c.322G>T (p.Val108Leu)	CCDC117 (V90L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2468259	NM_173510.4(CCDC117):c.380A>G (p.Asp127Gly)	CCDC117 (D109G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2471622	NM_173510.4(CCDC117):c.392A>T (p.Glu131Val)	CCDC117 (E113V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2370537	NM_173510.4(CCDC117):c.406A>G (p.Thr136Ala)	CCDC117 (T136A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316344	NM_173510.4(CCDC117):c.453G>T (p.Glu151Asp)	CCDC117 (E19D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309302	NM_173510.4(CCDC117):c.460G>A (p.Asp154Asn)	CCDC117 (D136N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138282	NM_173510.4(CCDC117):c.533C>G (p.Ser178Cys)	CCDC117 (S178C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259119	NM_173510.4(CCDC117):c.557A>G (p.Lys186Arg)	CCDC117 (K168R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263798	NM_173510.4(CCDC117):c.608G>A (p.Arg203His)	CCDC117 (R185H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138284	NM_173510.4(CCDC117):c.673T>A (p.Ser225Thr)	CCDC117 (S93T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138285	NM_173510.4(CCDC117):c.761C>T (p.Ser254Leu)	CCDC117 (S122L +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2324640	NM_173510.4(CCDC117):c.788T>C (p.Leu263Pro)	CCDC117 (L245P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316725	NM_173510.4(CCDC117):c.812C>G (p.Thr271Ser)	CCDC117 (T196S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247093	NC_000022.10:g.(?_29083885)_(30090791_?)del	AP1B1, C22orf31 +17 more	Deletion	Neurofibromatosis, type 2	GPathogenic
Select item 1807757	GRCh37/hg19 22q12.1-12.2(chr22:26614429-29847680)x1	AP1B1, ASPHD2 +25 more	Copy number loss	not provided	GPathogenic
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	AP1B1, ASCC2 +71 more	Duplication	not provided	GUncertain significance
Select item 1076756	NC_000022.10:g.(?_29105984)_(30337586_?)del	AP1B1, ASCC2 +22 more	Deletion	Familial cancer of breast	GPathogenic
Select item 1076222	NC_000022.10:g.(?_29083885)_(30337586_?)del	AP1B1, ASCC2 +22 more	Deletion	Neurofibromatosis, type 2	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 979602	GRCh37/hg19 22q12.1-12.2(chr22:28291202-30450920)x1	AP1B1, ASCC2 +24 more	Copy number loss	not provided	GPathogenic
Select item 832675	NC_000022.10:g.(?_29083875)_(30090801_?)del	AP1B1, C22orf31 +17 more	Deletion	Familial cancer of breast	GPathogenic
Select item 832563	NC_000022.10:g.(?_29083885)_(29621477_?)del	C22orf31, CCDC117 +6 more	Deletion	Familial cancer of breast	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 685157	GRCh37/hg19 22q12.1(chr22:29167380-29205638)x1	CCDC117, XBP1	Copy number loss	not provided	GUncertain significance
Select item 685123	GRCh37/hg19 22q12.1(chr22:29167380-29205638)x1	CCDC117, XBP1	Copy number loss	not provided	GUncertain significance
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 442415	GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	DEPDC5, DRG1 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 54