CEACAM6[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 2322499	NM_002483.7(CEACAM6):c.46A>G (p.Lys16Glu)	CEACAM6 (K16E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141838	NM_002483.7(CEACAM6):c.50A>T (p.Glu17Val)	CEACAM6 (E17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346395	NM_002483.7(CEACAM6):c.122C>T (p.Thr41Met)	CEACAM6 (T41M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782649	NM_002483.7(CEACAM6):c.254G>A (p.Gly85Glu)	CEACAM6 (G85E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2247051	NM_002483.7(CEACAM6):c.275G>T (p.Gly92Val)	CEACAM6 (G92V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141836	NM_002483.7(CEACAM6):c.307C>A (p.Pro103Thr)	CEACAM6 (P103T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283540	NM_002483.7(CEACAM6):c.307C>T (p.Pro103Ser)	CEACAM6 (P103S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2308585	NM_002483.7(CEACAM6):c.317C>T (p.Ser106Phe)	CEACAM6 (S106F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378783	NM_002483.7(CEACAM6):c.334G>A (p.Val112Ile)	CEACAM6 (V112I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357139	NM_002483.7(CEACAM6):c.371T>C (p.Val124Ala)	CEACAM6 (V124A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521447	NM_002483.7(CEACAM6):c.388G>C (p.Val130Leu)	CEACAM6 (V130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141837	NM_002483.7(CEACAM6):c.401C>T (p.Ala134Val)	CEACAM6 (A134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222384	NM_002483.7(CEACAM6):c.425C>T (p.Pro142Leu)	CEACAM6 (P142L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558347	NM_002483.7(CEACAM6):c.429G>C (p.Glu143Asp)	CEACAM6 (E143D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468541	NM_002483.7(CEACAM6):c.487G>A (p.Val163Met)	CEACAM6 (V163M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377817	NM_002483.7(CEACAM6):c.535T>A (p.Trp179Arg)	CEACAM6 (W179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141839	NM_002483.7(CEACAM6):c.575A>T (p.Gln192Leu)	CEACAM6 (Q192L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141840	NM_002483.7(CEACAM6):c.613G>A (p.Val205Ile)	CEACAM6 (V205I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308841	NM_002483.7(CEACAM6):c.625G>A (p.Asp209Asn)	CEACAM6 (D209N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141841	NM_002483.7(CEACAM6):c.649A>G (p.Ile217Val)	CEACAM6 (I217V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141842	NM_002483.7(CEACAM6):c.662C>T (p.Ala221Val)	CEACAM6 (A221V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2455374	NM_002483.7(CEACAM6):c.748C>T (p.Arg250Cys)	CEACAM6 (R250C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769002	NM_002483.7(CEACAM6):c.780C>T (p.His260=)	CEACAM6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2386758	NM_002483.7(CEACAM6):c.803A>T (p.Gln268Leu)	CEACAM6 (Q268L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590991	NM_002483.7(CEACAM6):c.883G>A (p.Gly295Arg)	CEACAM6 (G295R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141843	NM_002483.7(CEACAM6):c.991G>A (p.Val331Ile)	CEACAM6 (V331I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	Diamond-Blackfan anemia +3 more	GUncertain significance
Select item 980764	GRCh37/hg19 19q13.2(chr19:42259135-42393370)x3	ARHGEF1, CD79A +5 more	Copy number gain	not provided	GUncertain significance
Select item 816083	GRCh37/hg19 19q13.2(chr19:41889319-42338832)x3	B3GNT8, BCKDHA +10 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395323	GRCh37/hg19 19q13.2(chr19:42259386-42274960)x1	CEACAM6	Copy number loss	See cases	GLikely benign

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Items: 36