Related gene-specific medical variations for Gene (Select 10404) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3076838	NM_016134.4(CPQ):c.1196A>G (p.Gln399Arg)	CPQ, LOC101927066 (Q399R)	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 2511060	NM_016134.4(CPQ):c.1100C>A (p.Thr367Asn)	CPQ, LOC101927066 (T367N)	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 2507424	NM_016134.4(CPQ):c.1294T>C (p.Phe432Leu)	CPQ, LOC101927066 (F432L)	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 2253880	NM_016134.4(CPQ):c.1186A>G (p.Asn396Asp)	CPQ, LOC101927066 (N396D)	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 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 524177	t(8;11)(q22;q23)dn	CPQ	Translocation	not specified	GUncertain significance