CCT8[gene] - ClinVar

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Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	NCAM2, NDUFV3 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	PDE9A-AS1, PDXK +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	LOC130066843, LOC130066844 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653343, LOC126653344 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	LINC00315, LINC00316 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	ATP5PF, ATP5PO +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653350, LOC126653351 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LINC00111, LINC00112 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	ADAMTS1, ADAMTS5 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	TSPEAR-AS1, TSPEAR-AS2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC130066578, LOC130066579 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	LOC126653316, LOC126653317 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	LOC130066758, LOC130066759 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	LOC130066717, LOC130066718 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC125418051, LOC125418052 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	ABCG1, ADAMTS1 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	HSF2BP, HSPA13 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LOC130066756, LOC130066757 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	KRTAP12-3, KRTAP12-4 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC107403153, LOC107548109 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SON, SPATC1L +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066735, LOC130066736 +1156 more	Copy number loss	See cases	GPathogenic
Select item 59004	GRCh38/hg38 21q11.2-21.3(chr21:13194345-29257208)x1	ADAMTS1, ADAMTS5 +256 more	Copy number loss	See cases	GPathogenic
Select item 59005	GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)x1	ADAMTS1, ADAMTS5 +300 more	Copy number loss	See cases	GPathogenic
Select item 154063	GRCh38/hg38 21q21.1-22.11(chr21:19423169-31841150)x1	ADAMTS1, ADAMTS5 +213 more	Copy number loss	See cases	GPathogenic
Select item 236547	GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347)	CCT8, CLDN17 +215 more	Copy number loss	Monosomy 21	GPathogenic
Select item 155712	GRCh38/hg38 21q21.3(chr21:26773248-29573178)x1	ADAMTS1, ADAMTS5 +56 more	Copy number loss	See cases	GUncertain significance
Select item 1707470	Single allele	CCT8, LINC00161 +29 more	Duplication	not specified	GUncertain significance
Select item 2242874	NM_006585.4(CCT8):c.1603C>T (p.Pro535Ser)	CCT8 (P462S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140210	NM_006585.4(CCT8):c.1428A>T (p.Lys476Asn)	CCT8 (K476N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554661	NM_006585.4(CCT8):c.1372G>A (p.Val458Ile)	CCT8 (V439I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140209	NM_006585.4(CCT8):c.1352C>T (p.Ala451Val)	CCT8 (A432V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469613	NM_006585.4(CCT8):c.1351G>A (p.Ala451Thr)	CCT8 (A400T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140208	NM_006585.4(CCT8):c.1340C>T (p.Ala447Val)	CCT8 (A396V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769121	NM_006585.4(CCT8):c.1225G>A (p.Val409Ile)	CCT8 (V390I +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2228827	NM_006585.4(CCT8):c.1214A>T (p.Asp405Val)	CCT8 (D386V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540236	NM_006585.4(CCT8):c.1210A>G (p.Arg404Gly)	CCT8 (R331G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486129	NM_006585.4(CCT8):c.1127T>G (p.Val376Gly)	CCT8 (V357G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300747	NM_006585.4(CCT8):c.992C>T (p.Thr331Ile)	CCT8 (T280I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140216	NM_006585.4(CCT8):c.976A>G (p.Lys326Glu)	CCT8 (K275E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381612	NM_006585.4(CCT8):c.937G>A (p.Val313Met)	CCT8 (V240M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140214	NM_006585.4(CCT8):c.860G>T (p.Gly287Val)	CCT8 (G214V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314448	NM_006585.4(CCT8):c.694A>G (p.Thr232Ala)	CCT8, LOC130066508 (T181A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213810	NM_006585.4(CCT8):c.649G>T (p.Val217Leu)	CCT8, LOC130066508 (V144L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140213	NM_006585.4(CCT8):c.565T>C (p.Ser189Pro)	CCT8 (S189P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596074	NM_006585.4(CCT8):c.545T>C (p.Leu182Pro)	CCT8 (L163P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261928	NM_006585.4(CCT8):c.474T>A (p.Asp158Glu)	CCT8 (D139E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140212	NM_006585.4(CCT8):c.470T>C (p.Ile157Thr)	CCT8 (I106T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346839	NM_006585.4(CCT8):c.442T>C (p.Cys148Arg)	CCT8 (C129R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229417	NM_006585.4(CCT8):c.302C>T (p.Thr101Ile)	CCT8 (T101I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386880	NM_006585.4(CCT8):c.211A>G (p.Thr71Ala)	CCT8 (T52A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349958	NM_006585.4(CCT8):c.200A>C (p.Asn67Thr)	CCT8 (N67T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229462	NM_006585.4(CCT8):c.131G>A (p.Arg44His)	CCT8 (R25H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140207	NM_006585.4(CCT8):c.107G>T (p.Cys36Phe)	CCT8 (C17F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140215	NM_006585.4(CCT8):c.89A>T (p.Tyr30Phe)	CCT8 (Y30F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477569	NM_006585.4(CCT8):c.53G>A (p.Gly18Glu)	CCT8 (G18E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3140211	NM_006585.4(CCT8):c.43C>T (p.Leu15Phe)	CCT8 (L15F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2323529	NM_006585.4(CCT8):c.34G>A (p.Ala12Thr)	CCT8 (A12T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2471904	NM_006585.4(CCT8):c.22G>C (p.Ala8Pro)	CCT8 (A8P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	COL6A1, COL6A2 +201 more	Copy number gain	not specified	GPathogenic
Select item 2684913	GRCh37/hg19 21q21.1-21.3(chr21:21437700-30474088)x3	ADAMTS1, ADAMTS5 +14 more	Copy number gain	not provided	GPathogenic
Select item 2684912	GRCh37/hg19 21q21.1-22.11(chr21:20408138-32852758)x3	ADAMTS1, ADAMTS5 +52 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	ABCG1, ADAMTS1 +170 more	Copy number gain	not provided	GPathogenic
Select item 1809314	GRCh37/hg19 21q21.3-22.11(chr21:29243314-32472073)x3	BACH1, CCT8 +41 more	Copy number gain	not provided	GUncertain significance
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	DOP1B, DSCAM +217 more	Copy number gain	Complete trisomy 21 syndrome	GPathogenic
Select item 1526711	GRCh37/hg19 21q21.3(chr21:30178276-30550204)	CCT8, LTN1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1526710	GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)	KCNJ6, ATP5PO +91 more	Copy number gain	not specified	GPathogenic
Select item 1526709	GRCh37/hg19 21q21.3-22.12(chr21:27185913-35853445)	CRYZL1, CYYR1 +77 more	Copy number loss	not specified	GUncertain significance
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	FAM3B, FTCD +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KRTAP13-1, KRTAP13-2 +216 more	Copy number gain	not specified	GPathogenic
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	ABCG1, ADAMTS1 +220 more	Copy number gain	See cases	GPathogenic
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 980229	GRCh37/hg19 21q21.3(chr21:30394538-30471857)x1	USP16, MAP3K7CL +1 more	Copy number loss	not provided	GUncertain significance
Select item 816152	GRCh37/hg19 21q21.3-22.11(chr21:27826100-32468109)x1	BACH1, CLDN8 +44 more	Copy number loss	not provided	GPathogenic
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 686180	GRCh37/hg19 21q21.3(chr21:29859153-30437842)x3	CCT8, LTN1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 443320	GRCh37/hg19 21q21.3(chr21:30120768-30533959)x1	CCT8, LTN1 +4 more	Copy number loss	See cases	GUncertain significance
Select item 394309	GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	BTG3, C21orf58 +217 more	Copy number gain	See cases	GPathogenic
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic
Select item 153076	GRCh37/hg19 21q21.3-22.12(chr21:29880468-36062331)x1	ATP5PO, BACH1 +75 more	Copy number loss	See cases	GPathogenic

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Items: 91