"Ambry Genetics"[submitter] AND "CES5A"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2352334	NM_001143685.2(CES5A):c.1708T>C (p.Phe570Leu)	CES5A (F570L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350889	NM_001143685.2(CES5A):c.1680A>C (p.Leu560Phe)	CES5A (L510F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143265	NM_001143685.2(CES5A):c.1601C>T (p.Pro534Leu)	CES5A (P563L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352789	NM_001143685.2(CES5A):c.1492A>G (p.Thr498Ala)	CES5A (T498A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304538	NM_001143685.2(CES5A):c.1421T>C (p.Phe474Ser)	CES5A (F474S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143264	NM_001143685.2(CES5A):c.1393G>C (p.Ala465Pro)	CES5A (A465P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244859	NM_001143685.2(CES5A):c.1363G>A (p.Ala455Thr)	CES5A (A484T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2360435	NM_001143685.2(CES5A):c.1357G>A (p.Asp453Asn)	CES5A (D453N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322578	NM_001143685.2(CES5A):c.1302G>T (p.Glu434Asp)	CES5A (E434D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143263	NM_001143685.2(CES5A):c.1298A>G (p.Tyr433Cys)	CES5A (Y433C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304537	NM_001143685.2(CES5A):c.1292A>G (p.Tyr431Cys)	CES5A (Y460C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143262	NM_001143685.2(CES5A):c.1286C>T (p.Pro429Leu)	CES5A (P458L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288969	NM_001143685.2(CES5A):c.1267C>T (p.His423Tyr)	CES5A (H423Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611609	NM_001143685.2(CES5A):c.1228G>A (p.Val410Met)	CES5A (V439M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143261	NM_001143685.2(CES5A):c.1177A>G (p.Lys393Glu)	CES5A (K422E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321252	NM_001143685.2(CES5A):c.1121T>C (p.Ile374Thr)	CES5A (I374T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467907	NM_001143685.2(CES5A):c.1092G>T (p.Lys364Asn)	CES5A (K364N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143260	NM_001143685.2(CES5A):c.1043T>C (p.Phe348Ser)	CES5A (F377S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609520	NM_001143685.2(CES5A):c.941T>C (p.Val314Ala)	CES5A (V343A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458042	NM_001143685.2(CES5A):c.892A>G (p.Lys298Glu)	CES5A (K327E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2326017	NM_001143685.2(CES5A):c.857A>G (p.Glu286Gly)	CES5A (E315G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552450	NM_001143685.2(CES5A):c.845C>T (p.Ala282Val)	CES5A (A282V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143274	NM_001143685.2(CES5A):c.779T>A (p.Leu260Gln)	CES5A (L260Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266369	NM_001143685.2(CES5A):c.631G>A (p.Glu211Lys)	CES5A (E240K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2622018	NM_001143685.2(CES5A):c.584C>T (p.Ala195Val)	CES5A (A224V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143273	NM_001143685.2(CES5A):c.578A>G (p.Asn193Ser)	CES5A (N193S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484091	NM_001143685.2(CES5A):c.572C>T (p.Pro191Leu)	CES5A (P220L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395510	NM_001143685.2(CES5A):c.494A>T (p.Tyr165Phe)	CES5A (Y165F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143272	NM_001143685.2(CES5A):c.481G>A (p.Ala161Thr)	CES5A (A190T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364504	NM_001143685.2(CES5A):c.416C>G (p.Pro139Arg)	CES5A (P168R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520448	NM_001143685.2(CES5A):c.397G>A (p.Asp133Asn)	CES5A (D162N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539093	NM_001143685.2(CES5A):c.332A>G (p.His111Arg)	CES5A (H111R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306403	NM_001143685.2(CES5A):c.254G>A (p.Arg85Gln)	CES5A (R85Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143271	NM_001143685.2(CES5A):c.244G>A (p.Asp82Asn)	CES5A (D111N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2621559	NM_001143685.2(CES5A):c.193C>T (p.Pro65Ser)	CES5A (P94S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143270	NM_001143685.2(CES5A):c.172C>T (p.Leu58Phe)	CES5A (L87F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143269	NM_001143685.2(CES5A):c.133G>A (p.Val45Ile)	CES5A (V45I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143268	NM_001143685.2(CES5A):c.124G>A (p.Gly42Ser)	CES5A (G42S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143266	NM_001143685.2(CES5A):c.86A>G (p.Glu29Gly)	CES5A (E29G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 39