CES3[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LINC02168, LINC02169 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	AARS1, ACD +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59491	GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1	ACD, AGRP +176 more	Copy number loss	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	LOC128772417, LOC128772418 +939 more	Copy number gain	See cases	GPathogenic
Select item 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	ACD, ACSF3 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC130059153, LOC130059154 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	AARS1, ACD +869 more	Copy number gain	See cases	GPathogenic
Select item 145310	GRCh38/hg38 16q21-22.1(chr16:66245888-67473023)x1	ATP6V0D1, B3GNT9 +113 more	Copy number loss	See cases	GPathogenic
Select item 59494	GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1	ACD, AGRP +155 more	Copy number loss	See cases	GPathogenic
Select item 148293	GRCh38/hg38 16q22.1(chr16:66893204-67357178)x3	LOC130059181, LOC130059182 +70 more	Copy number gain	See cases	GUncertain significance
Select item 154697	GRCh38/hg38 16q22.1(chr16:66921669-67312444)x3	B3GNT9, CBFB +65 more	Copy number gain	See cases	GUncertain significance
Select item 152800	GRCh38/hg38 16q22.1(chr16:66945487-67024713)x3	CES3, CES4A +9 more	Copy number gain	See cases	GUncertain significance
Select item 2288264	NM_024922.6(CES3):c.88G>A (p.Glu30Lys)	CES3 (E30K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2307973	NM_024922.6(CES3):c.91G>A (p.Val31Ile)	CES3 (V31I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534385	NM_024922.6(CES3):c.109G>T (p.Asp37Tyr)	CES3 (D37Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538463	NM_024922.6(CES3):c.131G>A (p.Arg44Gln)	CES3 (R44Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478723	NM_024922.6(CES3):c.187A>G (p.Ile63Val)	CES3 (I63V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221339	NM_024922.6(CES3):c.203C>T (p.Pro68Leu)	CES3 (P68L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471902	NM_024922.6(CES3):c.220C>T (p.Arg74Trp)	CES3 (R74W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 59993	GRCh38/hg38 16q22.1(chr16:66963495-67004242)x3	CES3, CES4A +3 more	Copy number gain	See cases	GUncertain significance
Select item 2308404	NM_024922.6(CES3):c.535C>T (p.Arg179Cys)	CES3 (R179C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274776	NM_024922.6(CES3):c.536G>A (p.Arg179His)	CES3 (R179H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2513864	NM_024922.6(CES3):c.608T>A (p.Val203Glu)	CES3 (V203E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265941	NM_024922.6(CES3):c.619C>T (p.Arg207Cys)	CES3 (R207C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511220	NM_024922.6(CES3):c.640G>A (p.Ala214Thr)	CES3 (A214T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2484735	NM_024922.6(CES3):c.641C>T (p.Ala214Val)	CES3 (A214V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237493	NM_024922.6(CES3):c.796T>C (p.Ser266Pro)	CES3 (S266P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235562	NM_024922.6(CES3):c.893G>A (p.Gly298Glu)	CES3 (G298E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597260	NM_024922.6(CES3):c.946G>A (p.Val316Ile)	CES3 (V316I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2360223	NM_024922.6(CES3):c.955A>T (p.Thr319Ser)	CES3 (T319S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247610	NM_024922.6(CES3):c.982C>A (p.Leu328Ile)	CES3 (L328I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400512	NM_024922.6(CES3):c.1129G>A (p.Val377Ile)	CES3 (V16I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340574	NM_024922.6(CES3):c.1265C>T (p.Thr422Ile)	CES3, LOC126862377 (T422I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289252	NM_024922.6(CES3):c.1282T>C (p.Tyr428His)	CES3, LOC126862377 (Y428H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516509	NM_024922.6(CES3):c.1316A>G (p.Tyr439Cys)	CES3 (Y439C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480231	NM_024922.6(CES3):c.1562A>T (p.Asn521Ile)	CES3 (N518I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468398	NM_024922.6(CES3):c.1601G>A (p.Arg534Gln)	CES3 (R173Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403287	NM_024922.6(CES3):c.1604C>T (p.Ala535Val)	CES3 (A535V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2295619	NM_024922.6(CES3):c.1615T>C (p.Phe539Leu)	CES3 (F178L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2570080	NM_024922.6(CES3):c.1649C>T (p.Thr550Met)	CES3 (T547M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 2684807	GRCh37/hg19 16q21-22.1(chr16:66110708-67240652)x3	B3GNT9, BEAN1 +30 more	Copy number gain	not provided	GUncertain significance
Select item 2424194	NC_000016.9:g.(?_65821800)_(67208957_?)del	B3GNT9, BEAN1 +25 more	Deletion	not provided	GPathogenic
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	AARS1, ACD +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815823	GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	EXOC3L1, ESRP2 +95 more	Copy number loss	not provided	GPathogenic
Select item 688030	GRCh37/hg19 16q22.1(chr16:66797153-67109495)x3	CA7, CBFB +9 more	Copy number gain	not provided	GUncertain significance
Select item 685973	GRCh37/hg19 16q22.1(chr16:66876199-67150370)x3	PDP2, PHAF1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AGRP, AHSP +590 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 442784	GRCh37/hg19 16q21-22.1(chr16:66537021-67369281)x3	B3GNT9, CA7 +35 more	Copy number gain	See cases	GUncertain significance
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ADGRG3 +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
Select item 393763	GRCh37/hg19 16q22.1(chr16:66975093-67039211)x3	CES2, CES3 +1 more	Copy number gain	See cases	GLikely benign
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	CARMIL2, CIAPIN1 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 66