CPQ[gene] and "single gene"[properties] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 524177	t(8;11)(q22;q23)dn	CPQ	Translocation	not specified	GUncertain significance

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Items: 27