CPQ[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 60387	GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1	CPQ, DPY19L4 +139 more	Copy number loss	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 60388	GRCh38/hg38 8q22.1(chr8:96065893-97276981)x1	CPQ, GDF6 +22 more	Copy number loss	See cases	GPathogenic
Select item 422436	NM_016134.4(CPQ):c.1dup (p.Met1fs)	CPQ (M1fs)	Duplication (frameshift variant +1 more)	not specified	GLikely benign
Select item 2357321	NM_016134.4(CPQ):c.19G>T (p.Ala7Ser)	CPQ (A7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355948	NM_016134.4(CPQ):c.108A>G (p.Ile36Met)	CPQ (I36M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493072	NM_016134.4(CPQ):c.135T>A (p.Asp45Glu)	CPQ (D45E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319703	NM_016134.4(CPQ):c.148A>G (p.Ile50Val)	CPQ (I50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731407	NM_016134.4(CPQ):c.163_167dup (p.Tyr56Ter)	CPQ (Y56*)	Duplication (nonsense)	not provided	GLikely benign
Select item 2384119	NM_016134.4(CPQ):c.185G>A (p.Arg62Lys)	CPQ (R62K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785878	NM_016134.4(CPQ):c.274T>G (p.Tyr92Asp)	CPQ (Y92D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3076840	NM_016134.4(CPQ):c.308T>A (p.Val103Asp)	CPQ (V103D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522590	NM_016134.4(CPQ):c.346G>C (p.Gly116Arg)	CPQ (G116R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617914	NM_016134.4(CPQ):c.382C>T (p.His128Tyr)	CPQ (H128Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076841	NM_016134.4(CPQ):c.391G>A (p.Ala131Thr)	CPQ (A131T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781144	NM_016134.4(CPQ):c.413G>A (p.Ser138Asn)	CPQ (S138N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2523531	NM_016134.4(CPQ):c.416T>C (p.Ile139Thr)	CPQ (I139T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 712027	NM_016134.4(CPQ):c.433+8T>C	CPQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 712028	NM_016134.4(CPQ):c.452T>C (p.Leu151Pro)	CPQ (L151P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2459113	NM_016134.4(CPQ):c.461C>T (p.Thr154Ile)	CPQ (T154I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225922	NM_016134.4(CPQ):c.533T>A (p.Ile178Asn)	CPQ (I178N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293438	NM_016134.4(CPQ):c.545G>A (p.Arg182Lys)	CPQ (R182K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269259	NM_016134.4(CPQ):c.563C>T (p.Thr188Met)	CPQ (T188M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076842	NM_016134.4(CPQ):c.572C>T (p.Ala191Val)	CPQ (A191V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787329	NM_016134.4(CPQ):c.610A>G (p.Ile204Val)	CPQ (I204V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2360420	NM_016134.4(CPQ):c.619G>A (p.Val207Met)	CPQ (V207M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271948	NM_016134.4(CPQ):c.698G>A (p.Cys233Tyr)	CPQ (C233Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507452	NM_016134.4(CPQ):c.967C>T (p.Arg323Cys)	CPQ, LOC101927066 (R323C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777421	NM_016134.4(CPQ):c.985C>A (p.Arg329=)	CPQ, LOC101927066	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709343	NM_016134.4(CPQ):c.990G>A (p.Leu330=)	CPQ, LOC101927066	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2511060	NM_016134.4(CPQ):c.1100C>A (p.Thr367Asn)	CPQ, LOC101927066 (T367N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603068	NM_016134.4(CPQ):c.1163T>C (p.Val388Ala)	CPQ, LOC101927066 (V388A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269258	NM_016134.4(CPQ):c.1167G>A (p.Met389Ile)	CPQ, LOC101927066 (M389I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253880	NM_016134.4(CPQ):c.1186A>G (p.Asn396Asp)	CPQ, LOC101927066 (N396D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076838	NM_016134.4(CPQ):c.1196A>G (p.Gln399Arg)	CPQ, LOC101927066 (Q399R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336464	NM_016134.4(CPQ):c.1231T>A (p.Phe411Ile)	CPQ, LOC101927066 (F411I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272285	NM_016134.4(CPQ):c.1235G>C (p.Trp412Ser)	CPQ, LOC101927066 (W412S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507424	NM_016134.4(CPQ):c.1294T>C (p.Phe432Leu)	CPQ, LOC101927066 (F432L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685315	GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	ATP6V0D2, CA1 +53 more	Copy number loss	not provided	GPathogenic
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2506527	GRCh37/hg19 8q21.3-22.1(chr8:89179899-97978274)	LINC02906, LRRC69 +36 more	Copy number loss	not provided	GPathogenic
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 979843	GRCh37/hg19 8q22.1(chr8:95803280-97802022)x3	CFAP418, CCNE2 +11 more	Copy number gain	not provided	GLikely pathogenic
Select item 815147	GRCh37/hg19 8q22.1(chr8:97830138-97887447)x1	CPQ	Copy number loss	not provided	GUncertain significance
Select item 815146	GRCh37/hg19 8q22.1(chr8:97656087-98126625)x1	CPQ	Copy number loss	not provided	GUncertain significance
Select item 815145	GRCh37/hg19 8q22.1(chr8:96646399-98973327)x3	SDC2, CPQ +8 more	Copy number gain	not provided	GLikely pathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 666435	GRCh37/hg19 8q22.1(chr8:97154645-98155535)x3	CPQ, GDF6 +4 more	Copy number gain	Leri pleonosteosis	GPathogenic
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 563528	GRCh37/hg19 8q22.1(chr8:96468763-98522743)x1	SDC2, UQCRB +5 more	Copy number loss	not provided	GUncertain significance
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	RRM2B, SLC30A8 +160 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 524177	t(8;11)(q22;q23)dn	CPQ	Translocation	not specified	GUncertain significance

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Items: 77