CEACAM8[gene] - ClinVar

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Items: 40

	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 60102	GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)x1	ATP1A3, CEACAM1 +95 more	Copy number loss	See cases	GPathogenic
Select item 3141853	NM_001816.4(CEACAM8):c.1034G>T (p.Arg345Met)	CEACAM8, LIPE-AS1 (R345M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141852	NM_001816.4(CEACAM8):c.1034G>A (p.Arg345Lys)	CEACAM8, LIPE-AS1 (R345K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247778	NM_001816.4(CEACAM8):c.1024G>A (p.Val342Ile)	CEACAM8, LIPE-AS1 (V342I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2523612	NM_001816.4(CEACAM8):c.945G>A (p.Met315Ile)	CEACAM8, LIPE-AS1 (M315I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265686	NM_001816.4(CEACAM8):c.920G>T (p.Gly307Val)	CEACAM8, LIPE-AS1 (G307V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141856	NM_001816.4(CEACAM8):c.878A>T (p.Asn293Ile)	CEACAM8, LIPE-AS1 (N293I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221083	NM_001816.4(CEACAM8):c.868A>G (p.Thr290Ala)	CEACAM8, LIPE-AS1 (T290A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326999	NM_001816.4(CEACAM8):c.782C>A (p.Ala261Glu)	CEACAM8, LIPE-AS1 (A261E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141855	NM_001816.4(CEACAM8):c.743A>G (p.Tyr248Cys)	CEACAM8, LIPE-AS1 (Y248C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493901	NM_001816.4(CEACAM8):c.742T>G (p.Tyr248Asp)	CEACAM8, LIPE-AS1 (Y248D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265684	NM_001816.4(CEACAM8):c.740C>T (p.Thr247Ile)	CEACAM8, LIPE-AS1 (T247I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554943	NM_001816.4(CEACAM8):c.737A>T (p.Asp246Val)	CEACAM8, LIPE-AS1 (D246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322693	NM_001816.4(CEACAM8):c.662C>T (p.Ala221Val)	CEACAM8, LIPE-AS1 (A221V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2377417	NM_001816.4(CEACAM8):c.659C>G (p.Pro220Arg)	CEACAM8, LIPE-AS1 (P220R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528566	NM_001816.4(CEACAM8):c.640G>A (p.Glu214Lys)	CEACAM8, LIPE-AS1 (E214K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350536	NM_001816.4(CEACAM8):c.632G>A (p.Gly211Glu)	CEACAM8, LIPE-AS1 (G211E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342059	NM_001816.4(CEACAM8):c.557C>T (p.Pro186Leu)	CEACAM8, LIPE-AS1 (P186L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2558740	NM_001816.4(CEACAM8):c.548A>T (p.Gln183Leu)	CEACAM8, LIPE-AS1 (Q183L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544530	NM_001816.4(CEACAM8):c.508G>C (p.Glu170Gln)	CEACAM8, LIPE-AS1 (E170Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265685	NM_001816.4(CEACAM8):c.431C>G (p.Thr144Ser)	CEACAM8, LIPE-AS1 (T144S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237254	NM_001816.4(CEACAM8):c.425C>T (p.Pro142Leu)	CEACAM8, LIPE-AS1 (P142L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141854	NM_001816.4(CEACAM8):c.293G>A (p.Arg98Gln)	CEACAM8, LIPE-AS1 (R98Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589249	NM_001816.4(CEACAM8):c.233G>A (p.Arg78Gln)	CEACAM8, LIPE-AS1 (R78Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259109	NM_001816.4(CEACAM8):c.232C>G (p.Arg78Gly)	CEACAM8, LIPE-AS1 (R78G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457488	NM_001816.4(CEACAM8):c.226A>C (p.Asn76His)	CEACAM8, LIPE-AS1 (N76H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371065	NM_001816.4(CEACAM8):c.215C>G (p.Thr72Arg)	CEACAM8, LIPE-AS1 (T72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211656	NM_001816.4(CEACAM8):c.211G>A (p.Glu71Lys)	CEACAM8, LIPE-AS1 (E71K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225074	NM_001816.4(CEACAM8):c.188G>A (p.Arg63His)	CEACAM8, LIPE-AS1 (R63H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467161	NM_001816.4(CEACAM8):c.141G>C (p.Glu47Asp)	CEACAM8, LIPE-AS1 (E47D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808065	GRCh37/hg19 19q13.2-13.31(chr19:43084067-44096910)x3	CD177, CEACAM8 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1526666	GRCh37/hg19 19q13.2-13.31(chr19:43082847-44100076)	CD177, CEACAM8 +19 more	Copy number gain	not specified	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394142	GRCh37/hg19 19q13.2-13.31(chr19:42891150-43922624)x3	CD177, CEACAM1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic

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Items: 40