ClinVar for Gene (Select 1048) - ClinVar

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Links from Gene

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265675	NM_004363.6(CEACAM5):c.263A>C (p.Gln88Pro)	CEACAM5 (Q88P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265674	NM_004363.6(CEACAM5):c.1802C>T (p.Pro601Leu)	CEACAM5 (P600L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265673	NM_004363.6(CEACAM5):c.973C>T (p.Pro325Ser)	CEACAM5 (P324S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141835	NM_004363.6(CEACAM5):c.781G>A (p.Ala261Thr)	CEACAM5 (A261T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141834	NM_004363.6(CEACAM5):c.517G>A (p.Asp173Asn)	CEACAM5 (D173N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3141833	NM_004363.6(CEACAM5):c.460T>G (p.Ser154Ala)	CEACAM5 (S154A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141832	NM_004363.6(CEACAM5):c.296A>G (p.Glu99Gly)	CEACAM5 (E99G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141831	NM_004363.6(CEACAM5):c.286A>G (p.Ser96Gly)	CEACAM5 (S96G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141830	NM_004363.6(CEACAM5):c.2080G>A (p.Gly694Arg)	CEACAM5 (G693R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141829	NM_004363.6(CEACAM5):c.1798C>T (p.Pro600Ser)	CEACAM5 (P599S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141828	NM_004363.6(CEACAM5):c.1793T>C (p.Ile598Thr)	CEACAM5 (I597T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141827	NM_004363.6(CEACAM5):c.1550A>T (p.Asp517Val)	CEACAM5 (D517V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598282	NM_004363.6(CEACAM5):c.1882C>T (p.Arg628Cys)	CEACAM5 (R627C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592296	NM_004363.6(CEACAM5):c.122C>T (p.Thr41Met)	CEACAM5 (T41M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543207	NM_004363.6(CEACAM5):c.493T>C (p.Phe165Leu)	CEACAM5 (F165L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2479152	NM_004363.6(CEACAM5):c.581C>T (p.Ser194Phe)	CEACAM5 (S194F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477752	NM_004363.6(CEACAM5):c.106C>T (p.Leu36Phe)	CEACAM5 (L36F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474785	NM_004363.6(CEACAM5):c.1088T>G (p.Leu363Arg)	CEACAM5 (L363R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	TWIST1-related craniosynostosis +3 more	GUncertain significance
Select item 2407822	NM_004363.6(CEACAM5):c.1801C>G (p.Pro601Ala)	CEACAM5 (P600A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405834	NM_004363.6(CEACAM5):c.469G>A (p.Val157Met)	CEACAM5 (V157M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396517	NM_004363.6(CEACAM5):c.1109A>T (p.Gln370Leu)	CEACAM5 (Q369L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394992	NM_004363.6(CEACAM5):c.1742G>A (p.Arg581His)	CEACAM5 (R580H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2384736	NM_004363.6(CEACAM5):c.845A>G (p.Gln282Arg)	CEACAM5 (Q282R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376198	NM_004363.6(CEACAM5):c.239T>C (p.Ile80Thr)	CEACAM5 (I80T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372462	NM_004363.6(CEACAM5):c.1802C>A (p.Pro601Gln)	CEACAM5 (P600Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359331	NM_004363.6(CEACAM5):c.1091C>T (p.Pro364Leu)	CEACAM5 (P363L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356279	NM_004363.6(CEACAM5):c.1256C>T (p.Thr419Ile)	CEACAM5 (T418I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351781	NM_004363.6(CEACAM5):c.1807T>G (p.Ser603Ala)	CEACAM5 (S602A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347682	NM_004363.6(CEACAM5):c.710C>T (p.Pro237Leu)	CEACAM5 (P237L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334972	NM_004363.6(CEACAM5):c.668C>A (p.Ala223Asp)	CEACAM5 (A223D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320284	NM_004363.6(CEACAM5):c.77C>A (p.Thr26Asn)	CEACAM5 (T26N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319660	NM_004363.6(CEACAM5):c.1613G>A (p.Gly538Asp)	CEACAM5 (G537D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278069	NM_004363.6(CEACAM5):c.1696G>A (p.Ala566Thr)	CEACAM5 (A566T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2275464	NM_004363.6(CEACAM5):c.1122C>G (p.Asp374Glu)	CEACAM5 (D373E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270647	NM_004363.6(CEACAM5):c.1486G>C (p.Val496Leu)	CEACAM5 (V496L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246527	NM_004363.6(CEACAM5):c.104A>G (p.Lys35Arg)	CEACAM5 (K35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224040	NM_004363.6(CEACAM5):c.39C>G (p.Ile13Met)	CEACAM5 (I13M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215783	NM_004363.6(CEACAM5):c.944C>T (p.Thr315Met)	CEACAM5 (T315M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205238	NM_004363.6(CEACAM5):c.1249G>A (p.Asp417Asn)	CEACAM5 (D416N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205028	NM_004363.6(CEACAM5):c.1820C>T (p.Ser607Leu)	CEACAM5 (S607L +1 more)	Single nucleotide variant (missense variant)	not specified	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 782345	NM_004363.6(CEACAM5):c.1003G>A (p.Val335Met)	CEACAM5 (V334M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778600	NM_004363.6(CEACAM5):c.1779G>A (p.Pro593=)	CEACAM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778599	NM_004363.6(CEACAM5):c.299T>C (p.Ile100Thr)	CEACAM5 (I100T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777492	NM_004363.6(CEACAM5):c.159A>C (p.Leu53=)	CEACAM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777478	NM_004363.6(CEACAM5):c.153G>T (p.Val51=)	CEACAM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775413	NM_004363.6(CEACAM5):c.557C>A (p.Pro186Gln)	CEACAM5 (P186Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 775412	NM_004363.6(CEACAM5):c.307C>T (p.Pro103Ser)	CEACAM5 (P103S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771777	NM_004363.6(CEACAM5):c.1869G>A (p.Pro623=)	CEACAM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770663	NM_004363.6(CEACAM5):c.338T>C (p.Ile113Thr)	CEACAM5 (I113T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770662	NM_004363.6(CEACAM5):c.334A>G (p.Ile112Val)	CEACAM5 (I112V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770661	NM_004363.6(CEACAM5):c.248T>C (p.Val83Ala)	CEACAM5 (V83A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770660	NM_004363.6(CEACAM5):c.238A>G (p.Ile80Val)	CEACAM5 (I80V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770659	NM_004363.6(CEACAM5):c.210T>C (p.Gly70=)	CEACAM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769976	NM_004363.6(CEACAM5):c.902C>T (p.Ala301Val)	CEACAM5 (A301V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769975	NM_004363.6(CEACAM5):c.519C>T (p.Asp173=)	CEACAM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769001	NM_004363.6(CEACAM5):c.1762G>A (p.Asp588Asn)	CEACAM5 (D588N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 737699	NM_004363.6(CEACAM5):c.1893G>C (p.Gly631=)	CEACAM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716790	NM_004363.6(CEACAM5):c.1450A>G (p.Ser484Gly)	CEACAM5 (S484G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
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 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

ClinVar

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Links from Gene

Items: 66