COP1[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 1321890	NC_000001.11:g.173686375_176083118del	ANKRD45, CACYBP +88 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 3147959	NM_022457.7(COP1):c.2140A>C (p.Asn714His)	COP1 (N714H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 756996	NM_022457.7(COP1):c.2109G>A (p.Val703=)	COP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3147958	NM_022457.7(COP1):c.2043T>A (p.Asp681Glu)	COP1 (D657E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147956	NM_022457.7(COP1):c.1963A>G (p.Ile655Val)	COP1 (I631V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147955	NM_022457.7(COP1):c.1952A>G (p.Asn651Ser)	COP1 (N651S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147952	NM_022457.7(COP1):c.1775T>G (p.Ile592Ser)	COP1 (I592S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715553	NM_022457.7(COP1):c.1767A>G (p.Lys589=)	COP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 735689	NM_022457.7(COP1):c.1542G>A (p.Lys514=)	COP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3147951	NM_022457.7(COP1):c.1483G>A (p.Val495Ile)	COP1 (V495I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147950	NM_022457.7(COP1):c.1298G>A (p.Cys433Tyr)	COP1 (C409Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147949	NM_022457.7(COP1):c.1256A>G (p.Asn419Ser)	COP1 (N179S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530270	NM_022457.7(COP1):c.1151G>A (p.Arg384Gln)	COP1 (R360Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769544	NM_022457.7(COP1):c.1142-7C>T	COP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 788692	NM_022457.7(COP1):c.1142-10_1142-8del	COP1	Deletion (intron variant)	not provided	GBenign
Select item 742388	NM_022457.7(COP1):c.1142-8T>C	COP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3147948	NM_022457.7(COP1):c.1139C>T (p.Ser380Leu)	COP1 (S356L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147947	NM_022457.7(COP1):c.1030A>G (p.Lys344Glu)	COP1 (K320E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608221	NM_022457.7(COP1):c.996C>A (p.Ser332Arg)	COP1 (S332R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147969	NM_022457.7(COP1):c.983C>A (p.Ser328Tyr)	COP1 (S328Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601352	NM_022457.7(COP1):c.911C>G (p.Ser304Cys)	COP1 (S280C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721265	NM_022457.7(COP1):c.895A>G (p.Met299Val)	COP1 (M275V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 722313	NM_022457.7(COP1):c.884G>C (p.Arg295Thr)	COP1 (R295T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3147968	NM_022457.7(COP1):c.863T>A (p.Val288Asp)	COP1 (V288D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268936	NM_022457.7(COP1):c.821A>G (p.Asn274Ser)	COP1 (N270S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147967	NM_022457.7(COP1):c.787A>G (p.Ile263Val)	COP1 (I23V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748947	NM_022457.7(COP1):c.786G>C (p.Gln262His)	COP1 (Q258H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3147966	NM_022457.7(COP1):c.746A>G (p.Lys249Arg)	COP1 (K245R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539721	NM_022457.7(COP1):c.661A>G (p.Ile221Val)	COP1 (I221V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147965	NM_022457.7(COP1):c.599T>C (p.Phe200Ser)	COP1 (F200S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147964	NM_022457.7(COP1):c.529G>A (p.Val177Met)	COP1 (V177M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470986	NM_022457.7(COP1):c.392G>A (p.Ser131Asn)	COP1 (S131N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147962	NM_022457.7(COP1):c.350C>T (p.Ala117Val)	COP1 (A117V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147961	NM_022457.7(COP1):c.287G>C (p.Ser96Thr)	COP1 (S96T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147960	NM_022457.7(COP1):c.251C>T (p.Thr84Met)	COP1, LOC129931972 (T84M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147957	NM_022457.7(COP1):c.202G>A (p.Val68Met)	COP1, LOC129931972 (V68M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147954	NM_022457.7(COP1):c.188G>A (p.Gly63Asp)	COP1, LOC129931972 (G63D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147953	NM_022457.7(COP1):c.182T>G (p.Leu61Arg)	COP1, LOC129931972 (L61R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147946	NM_022457.7(COP1):c.101C>T (p.Ser34Phe)	COP1, LOC129931972 (S34F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147963	NM_022457.7(COP1):c.44G>A (p.Ser15Asn)	COP1, LOC129931972 (S15N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464831	NM_022457.7(COP1):c.31T>A (p.Ser11Thr)	COP1, LOC129931972 (S11T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542379	NM_022457.7(COP1):c.20C>T (p.Ala7Val)	COP1, LOC129931972 (A7V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3063177	GRCh37/hg19 1q25.1-25.2(chr1:175999385-176105676)x1	COP1	Copy number loss	not specified	GUncertain significance
Select item 3062833	GRCh37/hg19 1q25.1-25.2(chr1:174833865-176232490)x1	CACYBP, COP1 +5 more	Copy number loss	not specified	GUncertain significance
Select item 3062800	GRCh37/hg19 1q25.1-25.2(chr1:175917018-176316555)x1	COP1	Copy number loss	not specified	GUncertain significance
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 1527426	GRCh37/hg19 1q25.1-25.2(chr1:175172938-176036351)	COP1, TNR	Copy number gain	not specified	GUncertain significance
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979311	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not provided	GPathogenic
Select item 979310	GRCh37/hg19 1q25.1-25.2(chr1:174410914-178743636)x1	CACYBP, TEX35 +13 more	Copy number loss	not provided	GUncertain significance
Select item 814143	GRCh37/hg19 1q25.1-25.2(chr1:175926347-176214557)x1	COP1	Copy number loss	not provided	GUncertain significance
Select item 814142	GRCh37/hg19 1q25.1-25.2(chr1:174974791-177024710)x1	MRPS14, KIAA0040 +6 more	Copy number loss	not provided	GUncertain significance
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic
Select item 599187	NC_000001.10:g.172652343_183538289del10885947	ANKRD45, ASTN1 +61 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 253471	GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1	ABL2, ACBD6 +46 more	Copy number loss	See cases	GPathogenic

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Items: 70