ClinVar for Gene (Select 10575) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062602	GRCh37/hg19 2p15(chr2:61518864-62195531)x3	CCT4, COMMD1 +3 more	Copy number gain	not specified	GUncertain significance
Select item 3062588	GRCh37/hg19 2p16.1-15(chr2:61215496-62175386)x3	C2orf74, CCT4 +7 more	Copy number gain	not specified	GUncertain significance
Select item 2776153	NM_006430.4(CCT4):c.128-17_128-16dup	CCT4	Duplication (intron variant)	not provided	GBenign
Select item 2650989	NM_006430.4(CCT4):c.330CAT[1] (p.Ile112del)	CCT4 (I112del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2637153	NM_006430.4(CCT4):c.892C>T (p.Leu298Phe)	CCT4 (L268F +1 more)	Single nucleotide variant (missense variant)	CCT4-related condition	GUncertain significance
Select item 2610886	NM_006430.4(CCT4):c.812A>G (p.Gln271Arg)	CCT4 (Q271R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594976	NM_006430.4(CCT4):c.444G>T (p.Leu148Phe)	CCT4 (L118F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555806	NM_006430.4(CCT4):c.1313A>G (p.Glu438Gly)	CCT4 (E408G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546230	NM_006430.4(CCT4):c.59G>A (p.Gly20Glu)	CCT4, COMMD1 (G20E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530039	NM_006430.4(CCT4):c.121G>A (p.Ala41Thr)	CCT4 (A41T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456452	NM_006430.4(CCT4):c.1552G>T (p.Ala518Ser)	CCT4 (A488S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405041	NM_006430.4(CCT4):c.670G>A (p.Val224Met)	CCT4 (V224M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400552	NM_006430.4(CCT4):c.71A>T (p.Tyr24Phe)	CCT4, COMMD1 (Y24F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398506	NM_006430.4(CCT4):c.514A>G (p.Asn172Asp)	CCT4 (N142D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393526	NM_006430.4(CCT4):c.1448G>A (p.Arg483Gln)	CCT4 (R453Q +1 more)	Single nucleotide variant (missense variant)	CCT4-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2349005	NM_006430.4(CCT4):c.605G>A (p.Ser202Asn)	CCT4 (S172N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344715	NM_006430.4(CCT4):c.1531C>T (p.Pro511Ser)	CCT4 (P481S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284097	NM_006430.4(CCT4):c.903G>T (p.Gln301His)	CCT4 (Q301H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255881	NM_006430.4(CCT4):c.394A>G (p.Ile132Val)	CCT4 (I102V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255880	NM_006430.4(CCT4):c.1372A>G (p.Met458Val)	CCT4 (M428V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254656	NM_006430.4(CCT4):c.386A>G (p.His129Arg)	CCT4 (H129R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253285	NM_006430.4(CCT4):c.460C>T (p.Pro154Ser)	CCT4 (P124S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250676	NM_006430.4(CCT4):c.485C>T (p.Thr162Ile)	CCT4 (T162I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225316	NM_006430.4(CCT4):c.1487G>A (p.Arg496Gln)	CCT4 (R466Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 814269	GRCh37/hg19 2p15(chr2:61523951-62262243)x3	USP34, XPO1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687086	GRCh37/hg19 2p15(chr2:61968083-62238312)x1	CCT4, COMMD1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 625544	GRCh37/hg19 2p16.1-15(chr2:57445335-62733206)	B3GNT2, BCL11A +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 545283	Single allele	B3GNT2, CCT4 +59 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523277	GRCh37/hg19 2p16.1-15(chr2:60308869-62368583)	USP34, XPO1 +10 more	Copy number gain	Macrocephaly +2 more	GLikely pathogenic
Select item 523276	GRCh37/hg19 2p15(chr2:61576332-62775261)	B3GNT2, CCT4 +5 more	Copy number gain	Dolichocephaly +3 more	GUncertain significance
Select item 443366	GRCh37/hg19 2p15-14(chr2:61701437-65731084)x1	ACTR2, AFTPH +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 253686	GRCh37/hg19 2p16.1-15(chr2:60405806-62442792)x3	B3GNT2, BCL11A +11 more	Copy number gain	See cases	GUncertain significance
Select item 154940	GRCh38/hg38 2p16.1-15(chr2:58031916-63611810)x1	B3GNT2, BCL11A +177 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	C2orf74, CCT4 +768 more	Copy number gain	See cases	GPathogenic
Select item 60179	GRCh38/hg38 2p15(chr2:61515438-62305848)x1	B3GNT2, CCT4 +32 more	Copy number loss	See cases	GPathogenic
Select item 60148	GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1	B3GNT2, BCL11A +187 more	Copy number loss	See cases	GPathogenic
Select item 60146	GRCh38/hg38 2p16.1-15(chr2:56738054-62473668)x1	B3GNT2, BCL11A +161 more	Copy number loss	See cases	GPathogenic
Select item 58870	GRCh38/hg38 2p16.1-15(chr2:60009106-62006709)x3	BCL11A, C2orf74 +96 more	Copy number gain	See cases	GUncertain significance
Select item 57148	GRCh38/hg38 2p16.1-15(chr2:59658846-62336083)x1	B3GNT2, BCL11A +118 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 45