CCT8L2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59275	GRCh38/hg38 22q11.1-11.21(chr22:11121452-18167952)x3	CECR7, GAB4 +116 more	Copy number gain	See cases	GPathogenic
Select item 152141	GRCh38/hg38 22p11.2-q11.1(chr22:16367190-18178957)x4	LOC130066920, LOC130066917 +112 more	Copy number gain	See cases	GPathogenic
Select item 153998	GRCh38/hg38 22q11.1(chr22:16408173-17154559)x4	CCT8L2, CECR7 +30 more	Copy number gain	See cases	GUncertain significance
Select item 57553	GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1	ADA2, ARVCF +234 more	Copy number loss	See cases	GPathogenic
Select item 58170	GRCh38/hg38 22q11.1-11.21(chr22:16578056-18134332)x3	ADA2, CECR7 +107 more	Copy number gain	See cases	GPathogenic
Select item 3140223	NM_014406.5(CCT8L2):c.1609T>C (p.Ser537Pro)	CCT8L2 (S537P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3140221	NM_014406.5(CCT8L2):c.1577G>T (p.Ser526Ile)	CCT8L2 (S526I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304002	NM_014406.5(CCT8L2):c.1561G>A (p.Val521Ile)	CCT8L2 (V521I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140220	NM_014406.5(CCT8L2):c.1426C>T (p.Leu476Phe)	CCT8L2 (L476F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2297791	NM_014406.5(CCT8L2):c.1425C>A (p.Asn475Lys)	CCT8L2 (N475K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622148	NM_014406.5(CCT8L2):c.1418G>C (p.Gly473Ala)	CCT8L2 (G473A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3140219	NM_014406.5(CCT8L2):c.1400T>C (p.Met467Thr)	CCT8L2 (M467T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471585	NM_014406.5(CCT8L2):c.1189G>A (p.Asp397Asn)	CCT8L2 (D397N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289751	NM_014406.5(CCT8L2):c.1183G>T (p.Gly395Cys)	CCT8L2 (G395C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140218	NM_014406.5(CCT8L2):c.1181A>G (p.His394Arg)	CCT8L2 (H394R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466293	NM_014406.5(CCT8L2):c.1156C>T (p.Arg386Trp)	CCT8L2 (R386W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140217	NM_014406.5(CCT8L2):c.1136G>A (p.Gly379Glu)	CCT8L2 (G379E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605361	NM_014406.5(CCT8L2):c.1132A>T (p.Arg378Trp)	CCT8L2 (R378W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782172	NM_014406.5(CCT8L2):c.1030C>A (p.Pro344Thr)	CCT8L2 (P344T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2297155	NM_014406.5(CCT8L2):c.991G>C (p.Asp331His)	CCT8L2 (D331H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140231	NM_014406.5(CCT8L2):c.984G>T (p.Glu328Asp)	CCT8L2 (E328D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140230	NM_014406.5(CCT8L2):c.940G>A (p.Val314Met)	CCT8L2 (V314M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140229	NM_014406.5(CCT8L2):c.937G>A (p.Val313Met)	CCT8L2 (V313M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3140228	NM_014406.5(CCT8L2):c.934A>G (p.Ile312Val)	CCT8L2 (I312V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362007	NM_014406.5(CCT8L2):c.913A>G (p.Thr305Ala)	CCT8L2 (T305A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652839	NM_014406.5(CCT8L2):c.822C>T (p.Ser274=)	CCT8L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3140227	NM_014406.5(CCT8L2):c.778C>T (p.Arg260Cys)	CCT8L2 (R260C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492999	NM_014406.5(CCT8L2):c.775G>T (p.Ala259Ser)	CCT8L2 (A259S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279591	NM_014406.5(CCT8L2):c.762T>G (p.Asn254Lys)	CCT8L2 (N254K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206539	NM_014406.5(CCT8L2):c.727C>T (p.Leu243Phe)	CCT8L2 (L243F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208249	NM_014406.5(CCT8L2):c.704T>C (p.Val235Ala)	CCT8L2 (V235A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291158	NM_014406.5(CCT8L2):c.672A>G (p.Ile224Met)	CCT8L2 (I224M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2550854	NM_014406.5(CCT8L2):c.659C>T (p.Pro220Leu)	CCT8L2 (P220L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140226	NM_014406.5(CCT8L2):c.650G>A (p.Cys217Tyr)	CCT8L2 (C217Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205788	NM_014406.5(CCT8L2):c.620C>T (p.Ala207Val)	CCT8L2 (A207V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478228	NM_014406.5(CCT8L2):c.605G>A (p.Arg202His)	CCT8L2 (R202H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140225	NM_014406.5(CCT8L2):c.604C>T (p.Arg202Cys)	CCT8L2 (R202C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381400	NM_014406.5(CCT8L2):c.534C>A (p.Asp178Glu)	CCT8L2 (D178E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238529	NM_014406.5(CCT8L2):c.421G>T (p.Ala141Ser)	CCT8L2 (A141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140224	NM_014406.5(CCT8L2):c.409G>A (p.Ala137Thr)	CCT8L2 (A137T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236528	NM_014406.5(CCT8L2):c.386G>A (p.Arg129His)	CCT8L2 (R129H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600167	NM_014406.5(CCT8L2):c.385C>T (p.Arg129Cys)	CCT8L2 (R129C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394789	NM_014406.5(CCT8L2):c.317C>G (p.Ala106Gly)	CCT8L2 (A106G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260708	NM_014406.5(CCT8L2):c.91C>G (p.Pro31Ala)	CCT8L2 (P31A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485553	NM_014406.5(CCT8L2):c.40C>T (p.Arg14Trp)	CCT8L2 (R14W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345754	NM_014406.5(CCT8L2):c.38A>T (p.Gln13Leu)	CCT8L2 (Q13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492033	NM_014406.5(CCT8L2):c.7A>G (p.Ser3Gly)	CCT8L2 (S3G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148863	GRCh37/hg19 22q11.1-11.21(chr22:16888900-20312661)x3	ADA2, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 3062457	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18590640)x3	ADA2, ATP6V1E1 +13 more	Copy number gain	not specified	GPathogenic
Select item 3062445	GRCh37/hg19 22q11.1-11.21(chr22:16888899-17937630)x3	ADA2, CCT8L2 +6 more	Copy number gain	not specified	GUncertain significance
Select item 2685061	GRCh37/hg19 22q11.1(chr22:16888900-17635449)x4	CCT8L2, GAB4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684924	GRCh37/hg19 22q11.1(chr22:16888900-17611140)x3	CCT8L2, GAB4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1809245	GRCh37/hg19 22q11.1-11.21(chr22:17034543-17948922)x3	ADA2, CCT8L2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1808549	GRCh37/hg19 22q11.1-11.21(chr22:16888900-17948922)x3	ADA2, CCT8L2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1808352	GRCh37/hg19 22q11.1(chr22:16888900-17597713)x3	CCT8L2, GAB4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807693	GRCh37/hg19 22q11.1-11.21(chr22:16888900-18916828)x3	ADA2, ATP6V1E1 +17 more	Copy number gain	not provided	GPathogenic
Select item 1807686	GRCh37/hg19 22q11.1-11.21(chr22:16888900-18649190)x4	BCL2L13, BID +15 more	Copy number gain	not provided	GPathogenic
Select item 1703650	GRCh37/hg19 22q11.1-11.21(chr22:16888899-21915509)	ADA2, AIFM3 +68 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1676305	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18644241)x4	HDHD5, IL17RA +15 more	Copy number gain	Cat eye syndrome	GPathogenic
Select item 1340106	GRCh37/hg19 22q11.1(chr22:16888900-17619816)x3	CCT8L2, GAB4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1340011	GRCh37/hg19 22q11.1(chr22:16964385-17358927)x1	CCT8L2, XKR3	Copy number loss	not provided	GLikely benign
Select item 1321995	GRCh37/hg19 22q11.1-11.21(chr22:16850000-18885000)x3	TMEM121B, ADA2 +15 more	Copy number gain	See cases	GPathogenic
Select item 988911	GRCh37/hg19 22q11.1-11.21(chr22:16800000-21500000)x4	ADA2, AIFM3 +62 more	Copy number gain	not provided	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 981206	GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3	RTN4R, SCARF2 +124 more	Copy number gain	Cat eye syndrome +1 more	GPathogenic
Select item 980800	GRCh37/hg19 22q11.1(chr22:16888899-17811229)x1	ADA2, CCT8L2 +6 more	Copy number loss	not provided	GUncertain significance
Select item 980799	GRCh37/hg19 22q11.1(chr22:16888899-17536145)x4	CCT8L2, GAB4 +1 more	Copy number gain	not provided	GLikely pathogenic
Select item 816197	GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3	HIC2, HIRA +133 more	Copy number gain	not provided	GPathogenic
Select item 816196	GRCh37/hg19 22q11.1-11.22(chr22:16888899-22290476)x3	ADA2, AIFM3 +76 more	Copy number gain	not provided	GPathogenic
Select item 816195	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18644773)x4	CCT8L2, BCL2L13 +15 more	Copy number gain	not provided	GPathogenic
Select item 816194	GRCh37/hg19 22q11.1-11.21(chr22:16888899-17948922)x3	XKR3, CCT8L2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 816193	GRCh37/hg19 22q11.1-11.21(chr22:16888899-20730144)x1	ADA2, ARVCF +49 more	Copy number loss	not provided	GPathogenic
Select item 816192	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18916828)x4	TUBA8, USP18 +17 more	Copy number gain	not provided	GPathogenic
Select item 816191	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18629207)x3	TMEM121B, ADA2 +14 more	Copy number gain	not provided	GPathogenic
Select item 816190	GRCh37/hg19 22q11.1-11.21(chr22:16888899-20125005)x1	CECR3, HIRA +42 more	Copy number loss	not provided	GPathogenic
Select item 816189	GRCh37/hg19 22q11.1(chr22:16888899-17303481)x4	CCT8L2, XKR3	Copy number gain	not provided	GUncertain significance
Select item 816188	GRCh37/hg19 22q11.1(chr22:16888899-17309436)x3	CCT8L2, XKR3	Copy number gain	not provided	GUncertain significance
Select item 816187	GRCh37/hg19 22q11.1(chr22:16888899-17239029)x3	CCT8L2	Copy number gain	not provided	GUncertain significance
Select item 816186	GRCh37/hg19 22q11.1(chr22:16888899-17619816)x3	XKR3, TMEM121B +4 more	Copy number gain	not provided	GUncertain significance
Select item 686107	GRCh37/hg19 22q11.1-11.21(chr22:16888899-20312661)x3	ADA2, ARVCF +44 more	Copy number gain	not provided	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 685064	GRCh37/hg19 22q11.1-11.21(chr22:16888899-17979434)x3	ADA2, CCT8L2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 684996	GRCh37/hg19 22q11.1-11.21(chr22:17055733-20312661)x3	ADA2, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 635901	Single allele	ADA2, ARVCF +43 more	Duplication	Neurodevelopmental disorder	GLikely pathogenic
Select item 625806	GRCh37/hg19 22q11.1-11.21(chr22:17072086-20130474)	ADA2, ARVCF +42 more	Copy number gain	not provided	GPathogenic
Select item 565046	GRCh37/hg19 22q11.1-11.21(chr22:16888899-20312661)x3	TRMT2A, MRPL40 +44 more	Copy number gain	not provided	GPathogenic
Select item 565026	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18649190)x3	SLC25A18, BID +15 more	Copy number gain	not provided	GPathogenic
Select item 565003	GRCh37/hg19 22q11.1(chr22:16888899-17464771)x3	CCT8L2, XKR3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 565000	GRCh37/hg19 22q11.1(chr22:16888899-17303480)x3	XKR3, CCT8L2	Copy number gain	not provided	GUncertain significance
Select item 446351	GRCh37/hg19 22q11.1-11.21(chr22:16114244-18917748)x4	ADA2, ATP6V1E1 +19 more	Copy number gain	See cases	GPathogenic
Select item 443783	GRCh37/hg19 22q11.1-11.21(chr22:16888900-20026751)x1	ADA2, ARVCF +38 more	Copy number loss	See cases	GPathogenic
Select item 443782	GRCh37/hg19 22q11.1-11.21(chr22:16888900-18640300)	ADA2, ATP6V1E1 +15 more	Copy number gain	See cases	GPathogenic
Select item 443578	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18648856)x4	ADA2, ATP6V1E1 +15 more	Copy number gain	See cases	GPathogenic
Select item 442773	GRCh37/hg19 22q11.1-11.21(chr22:16888899-20311858)x3	ADA2, ARVCF +44 more	Copy number gain	See cases	GPathogenic
Select item 442367	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18649190)x4	ADA2, ATP6V1E1 +15 more	Copy number gain	See cases	GPathogenic
Select item 442174	GRCh37/hg19 22q11.1(chr22:16888899-17669306)x4	ADA2, CCT8L2 +5 more	Copy number gain	See cases	GUncertain significance
Select item 441973	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18916828)	ADA2, ATP6V1E1 +17 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

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