CCT6A[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
Select item 58866	GRCh38/hg38 7p12.1-11.2(chr7:52114454-57434735)x1	CCT6A, CHCHD2 +107 more	Copy number loss	See cases	GUncertain significance
Select item 59596	GRCh38/hg38 7p12.1-11.2(chr7:52192528-57823293)x3	CCT6A, CHCHD2 +107 more	Copy number gain	See cases	GUncertain significance
Select item 545348	Single allele	CCT6A, CHCHD2 +95 more	Duplication	Autism	GLikely pathogenic
Select item 59682	GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3	ASL, CCT6A +229 more	Copy number gain	See cases	GPathogenic
Select item 59597	GRCh38/hg38 7p12.1-11.2(chr7:53450330-56107195)x3	CCT6A, CHCHD2 +93 more	Copy number gain	See cases	GUncertain significance
Select item 153106	GRCh38/hg38 7p11.2(chr7:55538414-56107195)x3	CCT6A, CHCHD2 +44 more	Copy number gain	See cases	GUncertain significance
Select item 154478	GRCh38/hg38 7p11.2(chr7:55733060-56107195)x1	CCT6A, CHCHD2 +30 more	Copy number loss	See cases	GBenign
Select item 145628	GRCh38/hg38 7p11.2(chr7:55805157-56107195)x1	CCT6A, CHCHD2 +30 more	Copy number loss	See cases	GUncertain significance
Select item 2610544	NM_001762.4(CCT6A):c.41C>T (p.Ala14Val)	CCT6A, LOC129998497 (A14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344194	NM_001762.4(CCT6A):c.244A>G (p.Thr82Ala)	CCT6A (T82A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140187	NM_001762.4(CCT6A):c.248C>T (p.Ala83Val)	CCT6A (A83V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252521	NM_001762.4(CCT6A):c.332C>T (p.Ser111Phe)	CCT6A (S111F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250583	NM_001762.4(CCT6A):c.406G>A (p.Glu136Lys)	CCT6A (E136K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317187	NM_001762.4(CCT6A):c.446T>A (p.Ile149Lys)	CCT6A (I104K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541936	NM_001762.4(CCT6A):c.464C>G (p.Ser155Cys)	CCT6A (S110C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205790	NM_001762.4(CCT6A):c.481C>G (p.His161Asp)	CCT6A (H161D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140188	NM_001762.4(CCT6A):c.545A>G (p.Gln182Arg)	CCT6A (Q137R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252731	NM_001762.4(CCT6A):c.650G>A (p.Arg217Gln)	CCT6A (R172Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494246	NM_001762.4(CCT6A):c.685T>C (p.Tyr229His)	CCT6A (Y184H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140190	NM_001762.4(CCT6A):c.811G>T (p.Val271Phe)	CCT6A (V226F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613282	NM_001762.4(CCT6A):c.819A>C (p.Lys273Asn)	CCT6A (K228N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366498	NM_001762.4(CCT6A):c.820A>G (p.Ile274Val)	CCT6A (I229V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408902	NM_001762.4(CCT6A):c.1056G>C (p.Glu352Asp)	CCT6A (E307D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140182	NM_001762.4(CCT6A):c.1150C>G (p.Leu384Val)	CCT6A (L384V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140183	NM_001762.4(CCT6A):c.1171G>A (p.Val391Met)	CCT6A (V346M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140184	NM_001762.4(CCT6A):c.1202C>G (p.Ala401Gly)	CCT6A (A356G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140185	NM_001762.4(CCT6A):c.1291G>A (p.Gly431Ser)	CCT6A (G386S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493808	NM_001762.4(CCT6A):c.1354G>T (p.Ala452Ser)	CCT6A (A452S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221903	NM_001762.4(CCT6A):c.1403C>G (p.Ala468Gly)	CCT6A (A423G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1221249	NM_001762.4(CCT6A):c.1419A>G (p.Ser473=)	CCT6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2535879	NM_001762.4(CCT6A):c.1456C>A (p.Pro486Thr)	CCT6A, LOC121175344 (P486T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556578	NM_001762.4(CCT6A):c.1459A>G (p.Met487Val)	CCT6A, LOC121175344 (M487V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140186	NM_001762.4(CCT6A):c.1460T>C (p.Met487Thr)	CCT6A, LOC121175344 (M487T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684487	GRCh37/hg19 7p11.2-11.1(chr7:55498635-58025873)x3	CCT6A, CHCHD2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1809442	GRCh37/hg19 7p12.1-11.2(chr7:53991820-56148011)x3	CCT6A, EGFR +12 more	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1467711	NC_000007.13:g.(?_56079455)_(56174106_?)dup	CCT6A, CHCHD2 +3 more	Duplication	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1411250	NC_000007.13:g.(?_56079455)_(56174106_?)del	CCT6A, CHCHD2 +3 more	Deletion	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1340760	GRCh37/hg19 7p11.2(chr7:55776531-56393852)x3	CCT6A, CHCHD2 +8 more	Copy number gain	not provided	GLikely benign
Select item 1340644	GRCh37/hg19 7p11.2(chr7:55757106-56489653)x3	CCT6A, CHCHD2 +8 more	Copy number gain	not provided	GLikely benign
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 685442	GRCh37/hg19 7p12.1-11.1(chr7:52809787-58025873)x1	CCT6A, CHCHD2 +17 more	Copy number loss	not provided	GUncertain significance
Select item 503572	GRCh37/hg19 7p11.2(chr7:55848150-56344705)x3	PHKG1, PSPH +8 more	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442331	GRCh37/hg19 7p11.2(chr7:55550741-56945077)x1	CCT6A, CHCHD2 +9 more	Copy number loss	See cases	GLikely benign
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395009	GRCh37/hg19 7p11.2(chr7:54972516-56172165)x1	CCT6A, CHCHD2 +10 more	Copy number loss	See cases	GPathogenic
Select item 394272	GRCh37/hg19 7p11.2(chr7:55874737-56172165)x3	CCT6A, CHCHD2 +7 more	Copy number gain	See cases	GBenign
Select item 253758	GRCh37/hg19 7p11.2(chr7:55874737-56172217)x1	SUMF2, CCT6A +7 more	Copy number loss	See cases	GUncertain significance
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 55