CEACAM20[gene] - ClinVar

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Items: 52

	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 2544739	NM_001102597.3(CEACAM20):c.1718A>T (p.Asn573Ile)	CEACAM20 (N480I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141805	NM_001102597.3(CEACAM20):c.1667C>T (p.Pro556Leu)	CEACAM20 (P463L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598662	NM_001102597.3(CEACAM20):c.1586C>T (p.Pro529Leu)	CEACAM20 (P436L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546998	NM_001102597.3(CEACAM20):c.1526C>T (p.Pro509Leu)	CEACAM20 (P509L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141804	NM_001102597.3(CEACAM20):c.1419T>G (p.Asn473Lys)	CEACAM20 (N473K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265658	NM_001102597.3(CEACAM20):c.1411A>C (p.Ile471Leu)	CEACAM20 (I378L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265664	NM_001102597.3(CEACAM20):c.1349G>A (p.Gly450Asp)	CEACAM20 (G357D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141802	NM_001102597.3(CEACAM20):c.1280G>A (p.Arg427His)	CEACAM20 (R427H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265656	NM_001102597.3(CEACAM20):c.1277C>T (p.Ala426Val)	CEACAM20 (A426V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604443	NM_001102597.3(CEACAM20):c.1234G>A (p.Gly412Arg)	CEACAM20 (G412R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603232	NM_001102597.3(CEACAM20):c.1157G>A (p.Arg386His)	CEACAM20 (R386H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3265657	NM_001102597.3(CEACAM20):c.1132G>A (p.Glu378Lys)	CEACAM20 (E378K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218221	NM_001102597.3(CEACAM20):c.1060G>C (p.Glu354Gln)	CEACAM20 (E354Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346634	NM_001102597.3(CEACAM20):c.1003A>G (p.Ser335Gly)	CEACAM20 (S335G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525074	NM_001102597.3(CEACAM20):c.1000C>T (p.Arg334Trp)	CEACAM20 (R334W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141812	NM_001102597.3(CEACAM20):c.995G>A (p.Arg332Gln)	CEACAM20 (R332Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3141811	NM_001102597.3(CEACAM20):c.947G>A (p.Arg316Gln)	CEACAM20 (R316Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624111	NM_001102597.3(CEACAM20):c.922A>T (p.Thr308Ser)	CEACAM20 (T308S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265662	NM_001102597.3(CEACAM20):c.871G>T (p.Gly291Cys)	CEACAM20 (G291C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380932	NM_001102597.3(CEACAM20):c.857A>G (p.Gln286Arg)	CEACAM20 (Q286R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211361	NM_001102597.3(CEACAM20):c.854T>C (p.Val285Ala)	CEACAM20 (V285A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265655	NM_001102597.3(CEACAM20):c.775G>A (p.Val259Met)	CEACAM20 (V259M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230255	NM_001102597.3(CEACAM20):c.763A>G (p.Met255Val)	CEACAM20 (M255V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466345	NM_001102597.3(CEACAM20):c.739G>T (p.Val247Phe)	CEACAM20 (V247F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141810	NM_001102597.3(CEACAM20):c.650T>A (p.Ile217Asn)	CEACAM20 (I217N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265659	NM_001102597.3(CEACAM20):c.647C>T (p.Thr216Ile)	CEACAM20 (T216I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141809	NM_001102597.3(CEACAM20):c.557C>A (p.Thr186Asn)	CEACAM20 (T186N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553167	NM_001102597.3(CEACAM20):c.545G>T (p.Gly182Val)	CEACAM20 (G182V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141808	NM_001102597.3(CEACAM20):c.542A>G (p.Glu181Gly)	CEACAM20 (E181G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623372	NM_001102597.3(CEACAM20):c.448G>A (p.Asp150Asn)	CEACAM20 (D150N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141807	NM_001102597.3(CEACAM20):c.447C>G (p.Ser149Arg)	CEACAM20 (S149R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209847	NM_001102597.3(CEACAM20):c.427G>A (p.Ala143Thr)	CEACAM20 (A143T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281276	NM_001102597.3(CEACAM20):c.395A>G (p.Asp132Gly)	CEACAM20 (D132G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230579	NM_001102597.3(CEACAM20):c.337C>T (p.Arg113Cys)	CEACAM20 (R113C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265663	NM_001102597.3(CEACAM20):c.238A>G (p.Ile80Val)	CEACAM20 (I80V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141806	NM_001102597.3(CEACAM20):c.188G>A (p.Arg63Lys)	CEACAM20 (R63K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294239	NM_001102597.3(CEACAM20):c.164C>T (p.Pro55Leu)	CEACAM20 (P55L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141803	NM_001102597.3(CEACAM20):c.131G>A (p.Ser44Asn)	CEACAM20 (S44N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517093	NM_001102597.3(CEACAM20):c.112C>G (p.Pro38Ala)	CEACAM20 (P38A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513337	NM_001102597.3(CEACAM20):c.67G>A (p.Val23Ile)	CEACAM20 (V23I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617468	NM_001102597.3(CEACAM20):c.38G>C (p.Gly13Ala)	CEACAM20 (G13A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265660	NM_001102597.3(CEACAM20):c.10G>A (p.Ala4Thr)	CEACAM20 (A4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425936	NC_000019.9:g.(?_44011002)_(45213778_?)dup	CADM4, CEACAM16 +37 more	Duplication	Ethylmalonic encephalopathy	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
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 442437	GRCh37/hg19 19q13.31-13.32(chr19:44300416-45639540)x1	APOC1, APOC2 +39 more	Copy number loss	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
Select item 221402	GRCh37/hg19 19q13.31(chr19:44466919-45029206)x1	CEACAM20, ZNF112 +16 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221352	chr19:44501518-45322744 complex variant	BCAM, BCL3 +22 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 52