"Ambry Genetics"[submitter] AND "CES2"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2206363	NM_003869.6(CES2):c.-143G>A	CES2 (S17N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2256775	NM_001365405.1(CES2):c.-107C>T	CES2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2610550	NM_001365405.1(CES2):c.-95G>A	CES2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2309840	NM_001365405.1(CES2):c.-65C>T	CES2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3143233	NM_001365405.1(CES2):c.-56C>T	CES2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3143236	NM_001365405.1(CES2):c.-16G>T	CES2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3266360	NM_001365405.1(CES2):c.19C>T (p.Arg7Cys)	CES2 (R7C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266361	NM_001365405.1(CES2):c.68G>A (p.Arg23Gln)	CES2 (R23Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3143237	NM_001365405.1(CES2):c.139C>T (p.His47Tyr)	CES2 (H47Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282208	NM_001365405.1(CES2):c.230A>C (p.Glu77Ala)	CES2 (E77A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266362	NM_001365405.1(CES2):c.284G>A (p.Cys95Tyr)	CES2 (C95Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404659	NM_001365405.1(CES2):c.395C>T (p.Ala132Val)	CES2 (A132V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318005	NM_001365405.1(CES2):c.421C>G (p.Pro141Ala)	CES2 (P48A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209488	NM_001365405.1(CES2):c.451C>T (p.Leu151Phe)	CES2 (L151F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486724	NM_001365405.1(CES2):c.599A>G (p.Asp200Gly)	CES2 (D200G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207530	NM_001365405.1(CES2):c.637G>C (p.Ala213Pro)	CES2 (A120P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143238	NM_001365405.1(CES2):c.662G>A (p.Arg221His)	CES2 (R128H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457041	NM_001365405.1(CES2):c.695C>T (p.Thr232Met)	CES2 (T139M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143239	NM_001365405.1(CES2):c.766G>A (p.Val256Met)	CES2 (V256M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143240	NM_001365405.1(CES2):c.805G>T (p.Val269Phe)	CES2 (V176F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569815	NM_001365405.1(CES2):c.806T>C (p.Val269Ala)	CES2 (V269A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143231	NM_001365405.1(CES2):c.827A>T (p.Asn276Ile)	CES2, LOC126862376 (N183I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143232	NM_001365405.1(CES2):c.1029C>A (p.Asn343Lys)	CES2, LOC126862376 (N250K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494343	NM_001365405.1(CES2):c.1062G>T (p.Met354Ile)	CES2, LOC126862376 (M261I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556145	NM_001365405.1(CES2):c.1241C>G (p.Ser414Cys)	CES2, LOC126862376 (S414C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143234	NM_001365405.1(CES2):c.1288C>T (p.Arg430Trp)	CES2 (R337W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303813	NM_001365405.1(CES2):c.1339A>G (p.Asn447Asp)	CES2 (N354D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2303814	NM_001365405.1(CES2):c.1340A>T (p.Asn447Ile)	CES2 (N447I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612451	NM_001365405.1(CES2):c.1463T>A (p.Met488Lys)	CES2 (M379K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143235	NM_001365405.1(CES2):c.1534G>A (p.Asp512Asn)	CES2 (D512N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266363	NM_001365405.1(CES2):c.1669A>G (p.Thr557Ala)	CES2 (T448A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 31