CES1[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 1696636	Single allele	IRX5, IRX6 +189 more	Deletion	not provided	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 2205060	NM_001025195.2(CES1):c.1307G>A (p.Arg436Gln)	CES1 (R436Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143218	NM_001025195.2(CES1):c.1238A>G (p.Lys413Arg)	CES1 (K413R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621041	NM_001025195.2(CES1):c.1231A>G (p.Thr411Ala)	CES1 (T411A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143217	NM_001025195.2(CES1):c.1100A>G (p.Tyr367Cys)	CES1 (Y366C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388705	NM_001025195.2(CES1):c.1048G>A (p.Gly350Arg)	CES1 (G349R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403692	NM_001025195.2(CES1):c.1033G>T (p.Val345Phe)	CES1 (V344F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470373	NM_001025195.2(CES1):c.941G>A (p.Arg314Lys)	CES1 (R313K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304430	NM_001025195.2(CES1):c.893C>T (p.Thr298Met)	CES1 (T297M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 17603	NM_001025195.2(CES1):c.783del (p.Asp261fs)	CES1 (D260fs +1 more)	Deletion (frameshift variant)	DRUG METABOLISM, ALTERED, CES1-RELATED	GPathogenic
Select item 3143230	NM_001025195.2(CES1):c.661G>A (p.Glu221Lys)	CES1 (E221K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143229	NM_001025195.2(CES1):c.559C>T (p.Arg187Trp)	CES1 (R186W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143228	NM_001025195.2(CES1):c.496G>A (p.Val166Met)	CES1 (V166M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143227	NM_001025195.2(CES1):c.478G>A (p.Ala160Thr)	CES1 (A159T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 226014	NM_001025195.2(CES1):c.431G>A (p.Gly144Glu)	CES1 (G143E +1 more)	Single nucleotide variant (missense variant)	clopidogrel response - Efficacy +1 more	Gdrug response
Select item 17602	NM_001025195.2(CES1):c.428G>A (p.Gly143Glu)	CES1 (G143E +1 more)	Single nucleotide variant (missense variant)	DRUG METABOLISM, ALTERED, CES1-RELATED	GPathogenic
Select item 3143226	NM_001025195.2(CES1):c.413T>C (p.Val138Ala)	CES1 (V137A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143225	NM_001025195.2(CES1):c.410T>C (p.Met137Thr)	CES1 (M136T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214122	NM_001025195.2(CES1):c.388A>G (p.Lys130Glu)	CES1 (K130E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480701	NM_001025195.2(CES1):c.377C>T (p.Ala126Val)	CES1 (A125V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370575	NM_001025195.2(CES1):c.325A>G (p.Ile109Val)	CES1 (I108V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143223	NM_001025195.2(CES1):c.320A>G (p.Glu107Gly)	CES1 (E107G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589332	NM_001025195.2(CES1):c.291A>T (p.Leu97Phe)	CES1 (L97F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2213232	NM_001025195.2(CES1):c.263G>T (p.Cys88Phe)	CES1 (C87F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143222	NM_001025195.2(CES1):c.256C>A (p.Pro86Thr)	CES1 (P85T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143221	NM_001025195.2(CES1):c.215C>T (p.Ala72Val)	CES1 (A71V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143220	NM_001025195.2(CES1):c.206C>T (p.Pro69Leu)	CES1 (P69L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615788	NM_001025195.2(CES1):c.194G>A (p.Arg65Lys)	CES1 (R64K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143219	NM_001025195.2(CES1):c.157G>C (p.Gly53Arg)	CES1 (G52R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591966	NM_001025195.2(CES1):c.157G>A (p.Gly53Arg)	CES1 (G52R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307106	NM_001025195.2(CES1):c.139C>T (p.Pro47Ser)	CES1 (P46S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304151	NM_001025195.2(CES1):c.62C>T (p.Pro21Leu)	CES1 (P21L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143224	NM_001025195.2(CES1):c.31C>A (p.Leu11Ile)	CES1 (L11I)	Single nucleotide variant (missense variant)	not specified	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 3063463	GRCh37/hg19 16q12.2(chr16:55863970-56009260)x1	CES1, CES5A	Copy number loss	not specified	GUncertain significance
Select item 1808166	GRCh37/hg19 16q12.2(chr16:55723839-56330832)x3	CES1, CES5A +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
Select item 1705883	GRCh37/hg19 16q12.2(chr16:55103496-56391061)x1	AMFR, CAPNS2 +7 more	Copy number loss	Global developmental delay	GPathogenic
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 688224	GRCh37/hg19 16q12.2(chr16:55837726-55863303)x1	CES1	Copy number loss	not provided	GUncertain significance
Select item 687857	GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3	ADGRG1, ADGRG3 +68 more	Copy number gain	not provided	GUncertain significance
Select item 685406	GRCh37/hg19 16q12.2(chr16:55773119-55843724)x1	CES1	Copy number loss	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 443550	GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	ABCC11, ABCC12 +100 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
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

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Items: 56