ClinVar for Gene (Select 7203) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2598179	NM_005998.5(CCT3):c.688C>T (p.Arg230Trp)	CCT3 (R192W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593072	NM_005998.5(CCT3):c.1382G>A (p.Arg461His)	CCT3 (R423H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2558828	NM_005998.5(CCT3):c.562A>G (p.Asn188Asp)	CCT3 (N188D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554566	NM_005998.5(CCT3):c.77A>G (p.Asn26Ser)	CCT3 (N26S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552031	NM_005998.5(CCT3):c.592T>A (p.Tyr198Asn)	CCT3 (Y198N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548753	NM_005998.5(CCT3):c.1109A>C (p.Lys370Thr)	CCT3 (K370T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530160	NM_005998.5(CCT3):c.274G>C (p.Gly92Arg)	CCT3 (G54R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528958	NM_005998.5(CCT3):c.556G>A (p.Glu186Lys)	CCT3 (E186K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518549	NM_005998.5(CCT3):c.695A>G (p.Tyr232Cys)	CCT3 (Y232C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477230	NM_005998.5(CCT3):c.500G>A (p.Arg167Gln)	CCT3 (R129Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458621	NM_005998.5(CCT3):c.1346G>A (p.Arg449His)	CCT3 (R449H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399648	NM_005998.5(CCT3):c.1412C>T (p.Thr471Ile)	CCT3 (T433I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370968	NM_005998.5(CCT3):c.208A>G (p.Ile70Val)	CCT3 (I70V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369698	NM_005998.5(CCT3):c.46C>T (p.Arg16Cys)	CCT3 (R16C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364726	NM_005998.5(CCT3):c.938G>A (p.Arg313His)	CCT3 (R313H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2337782	NM_005998.5(CCT3):c.919G>A (p.Ala307Thr)	CCT3 (A307T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335145	NM_005998.5(CCT3):c.881A>G (p.Lys294Arg)	CCT3 (K294R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316841	NM_005998.5(CCT3):c.35A>G (p.Gln12Arg)	CCT3 (Q12R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315694	NM_005998.5(CCT3):c.689G>A (p.Arg230Gln)	CCT3 (R192Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2310434	NM_005998.5(CCT3):c.1553G>A (p.Arg518Gln)	CCT3 (R480Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299589	NM_005998.5(CCT3):c.631G>A (p.Asp211Asn)	CCT3 (D211N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272115	NM_005998.5(CCT3):c.478A>G (p.Ile160Val)	CCT3 (I122V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268060	NM_005998.5(CCT3):c.1262C>G (p.Ala421Gly)	CCT3 (A383G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255687	NM_005998.5(CCT3):c.83A>G (p.Asn28Ser)	CCT3 (N28S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1460461	NC_000001.10:g.(?_155581953)_(156851434_?)del	CRABP2, DAP3 +45 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	MUC1, PMVK +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CKS1B, CLK2 +228 more	Duplication	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 930642	NM_005998.5(CCT3):c.1552C>T (p.Arg518Ter)	CCT3 (R480* +1 more)	Single nucleotide variant (nonsense +1 more)	See cases	GUncertain significance
Select item 720021	NM_005998.5(CCT3):c.94-3T>C	CCT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 688120	GRCh37/hg19 1q22-23.1(chr1:155770505-156652136)x3	ARHGEF2, BCAN +33 more	Copy number gain	not provided	GUncertain significance
Select item 685546	GRCh37/hg19 1q22(chr1:156037369-156463980)x3	BGLAP, CCT3 +17 more	Copy number gain	not provided	GUncertain significance
Select item 617477	LMNA-NTRK1 fusion	BCAN, BGLAP +31 more	Fusion	Congenital fibrosarcoma	GPathogenic
Select item 565184	GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3	BCAN, BGLAP +35 more	Copy number gain	not provided	GUncertain significance
Select item 565183	GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	ARHGEF11, ARHGEF2 +57 more	Copy number loss	not provided	GPathogenic
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 149955	GRCh38/hg38 1q22(chr1:155834419-156434205)x3	ARHGEF2, ARHGEF2-AS2 +90 more	Copy number gain	See cases	GUncertain significance
Select item 149564	GRCh38/hg38 1q22-23.1(chr1:156256495-156681863)x1	BCAN, BCAN-AS1 +47 more	Copy number loss	See cases	GLikely pathogenic

ClinVar

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Links from Gene

Items: 47