"Ambry Genetics"[submitter] AND "CES1"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3266354	NM_001025195.2(CES1):c.1306C>G (p.Arg436Gly)	CES1 (R435G +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 3266352	NM_001025195.2(CES1):c.1132A>T (p.Thr378Ser)	CES1 (T377S +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 +1 more	GConflicting classifications of pathogenicity
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 3266356	NM_001025195.2(CES1):c.811A>G (p.Ile271Val)	CES1 (I270V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3266358	NM_001025195.2(CES1):c.544G>C (p.Gly182Arg)	CES1 (G182R +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 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 3266353	NM_001025195.2(CES1):c.394A>T (p.Asn132Tyr)	CES1 (N132Y +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 3266357	NM_001025195.2(CES1):c.225G>C (p.Trp75Cys)	CES1 (W74C +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 3266355	NM_001025195.2(CES1):c.205C>T (p.Pro69Ser)	CES1 (P68S +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

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Items: 36